Incidental Mutation 'R0255:Itsn1'
| ID |
34712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itsn1
|
| Ensembl Gene |
ENSMUSG00000022957 |
| Gene Name |
intersectin 1 (SH3 domain protein 1A) |
| Synonyms |
Eh domain, SH3 domain regulator of endocytosis 1, Sh3p17, Ese1, Intersectin-L, EHSH1 |
| MMRRC Submission |
038486-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0255 (G1)
|
| Quality Score |
156 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91526198-91717479 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 91602978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056482]
[ENSMUST00000064797]
[ENSMUST00000095909]
[ENSMUST00000113993]
[ENSMUST00000113996]
[ENSMUST00000113999]
[ENSMUST00000114001]
[ENSMUST00000114002]
[ENSMUST00000135057]
[ENSMUST00000231535]
[ENSMUST00000159295]
[ENSMUST00000231974]
|
| AlphaFold |
Q9Z0R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056482
|
| SMART Domains |
Protein: ENSMUSP00000056011
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
798 |
1.05e-19 |
SMART |
|
SH3
|
909 |
963 |
2.64e-16 |
SMART |
|
SH3
|
998 |
1052 |
1.82e-19 |
SMART |
|
SH3
|
1070 |
1130 |
2.46e-16 |
SMART |
|
SH3
|
1151 |
1206 |
7.97e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064797
|
| SMART Domains |
Protein: ENSMUSP00000066361
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
803 |
1.62e-16 |
SMART |
|
SH3
|
914 |
968 |
2.64e-16 |
SMART |
|
SH3
|
1003 |
1057 |
1.82e-19 |
SMART |
|
SH3
|
1075 |
1135 |
2.46e-16 |
SMART |
|
SH3
|
1156 |
1211 |
7.97e-25 |
SMART |
|
RhoGEF
|
1239 |
1420 |
1e-63 |
SMART |
|
PH
|
1461 |
1571 |
6.07e-13 |
SMART |
|
C2
|
1595 |
1692 |
1.58e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095909
|
| SMART Domains |
Protein: ENSMUSP00000093598
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113993
|
| SMART Domains |
Protein: ENSMUSP00000109626
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
803 |
1.62e-16 |
SMART |
|
SH3
|
914 |
968 |
2.64e-16 |
SMART |
|
SH3
|
1004 |
1064 |
2.46e-16 |
SMART |
|
SH3
|
1085 |
1140 |
7.97e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113996
|
| SMART Domains |
Protein: ENSMUSP00000109629
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
798 |
1.05e-19 |
SMART |
|
SH3
|
909 |
963 |
2.64e-16 |
SMART |
|
SH3
|
999 |
1059 |
2.46e-16 |
SMART |
|
SH3
|
1080 |
1135 |
7.97e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113999
|
| SMART Domains |
Protein: ENSMUSP00000109632
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
803 |
1.62e-16 |
SMART |
|
SH3
|
914 |
968 |
2.64e-16 |
SMART |
|
SH3
|
1003 |
1057 |
1.82e-19 |
SMART |
|
SH3
|
1075 |
1135 |
2.46e-16 |
SMART |
|
SH3
|
1156 |
1211 |
7.97e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114001
|
| SMART Domains |
Protein: ENSMUSP00000109634
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
145 |
155 |
N/A |
INTRINSIC |
|
EH
|
177 |
272 |
2.55e-49 |
SMART |
|
EFh
|
221 |
249 |
1.77e-2 |
SMART |
|
low complexity region
|
293 |
305 |
N/A |
INTRINSIC |
|
coiled coil region
|
315 |
410 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
500 |
N/A |
INTRINSIC |
|
coiled coil region
|
524 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
659 |
N/A |
INTRINSIC |
|
SH3
|
704 |
761 |
1.05e-19 |
SMART |
|
SH3
|
872 |
926 |
2.64e-16 |
SMART |
|
SH3
|
961 |
1015 |
1.82e-19 |
SMART |
|
SH3
|
1033 |
1093 |
2.46e-16 |
SMART |
|
SH3
|
1114 |
1169 |
7.97e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114002
|
| SMART Domains |
Protein: ENSMUSP00000109635
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
|
EH
|
214 |
309 |
2.55e-49 |
SMART |
|
EFh
|
258 |
286 |
1.77e-2 |
SMART |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
352 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
696 |
N/A |
INTRINSIC |
|
SH3
|
741 |
798 |
1.05e-19 |
SMART |
|
SH3
|
909 |
963 |
2.64e-16 |
SMART |
|
SH3
|
998 |
1052 |
1.82e-19 |
SMART |
|
SH3
|
1070 |
1130 |
2.46e-16 |
SMART |
|
SH3
|
1151 |
1206 |
7.97e-25 |
SMART |
|
RhoGEF
|
1234 |
1415 |
1e-63 |
SMART |
|
PH
|
1456 |
1566 |
6.07e-13 |
SMART |
|
C2
|
1590 |
1687 |
1.58e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135057
|
| SMART Domains |
Protein: ENSMUSP00000117018
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
14 |
108 |
1.34e-43 |
SMART |
|
EFh
|
57 |
85 |
2.14e-1 |
SMART |
|
low complexity region
|
121 |
131 |
N/A |
INTRINSIC |
|
EH
|
153 |
248 |
2.55e-49 |
SMART |
|
EFh
|
197 |
225 |
1.77e-2 |
SMART |
|
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
|
coiled coil region
|
291 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133389
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159295
|
| SMART Domains |
Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OSCP
|
1 |
89 |
1.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231974
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
93% (102/110) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous for a gene trapped allele exhibit embryonic lethal. Mice homozygous for a null allele exhibit some postnatal lethality and impaired vesicle recycling in surviving mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,061,907 (GRCm39) |
F119S |
probably damaging |
Het |
| Abca13 |
C |
A |
11: 9,531,545 (GRCm39) |
Q4591K |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,476,631 (GRCm39) |
M1329K |
probably damaging |
Het |
| Aoah |
A |
T |
13: 21,163,710 (GRCm39) |
K338* |
probably null |
Het |
| Ascc3 |
A |
T |
10: 50,521,154 (GRCm39) |
T416S |
probably benign |
Het |
| Baz2a |
A |
G |
10: 127,950,508 (GRCm39) |
T484A |
possibly damaging |
Het |
| Btnl6 |
T |
C |
17: 34,727,477 (GRCm39) |
N351S |
probably benign |
Het |
| Cacna1s |
T |
G |
1: 136,046,544 (GRCm39) |
I1772S |
possibly damaging |
Het |
| Ccdc8 |
A |
G |
7: 16,729,582 (GRCm39) |
D357G |
unknown |
Het |
| Ccna1 |
T |
C |
3: 54,958,049 (GRCm39) |
E152G |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,949,073 (GRCm39) |
D273G |
probably damaging |
Het |
| Cd9 |
A |
G |
6: 125,440,703 (GRCm39) |
V96A |
probably damaging |
Het |
| Cdc5l |
G |
A |
17: 45,726,610 (GRCm39) |
R321W |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 109,922,036 (GRCm39) |
S43P |
probably benign |
Het |
| Cep95 |
G |
A |
11: 106,702,097 (GRCm39) |
V365M |
probably benign |
Het |
| Ces1c |
T |
C |
8: 93,854,152 (GRCm39) |
T128A |
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,926,583 (GRCm39) |
V82A |
probably damaging |
Het |
| Clmn |
T |
C |
12: 104,748,023 (GRCm39) |
D508G |
probably benign |
Het |
| Cog8 |
A |
T |
8: 107,775,777 (GRCm39) |
|
probably benign |
Het |
| Cst3 |
A |
T |
2: 148,717,089 (GRCm39) |
V70E |
probably damaging |
Het |
| Ctcf |
A |
G |
8: 106,390,671 (GRCm39) |
T93A |
possibly damaging |
Het |
| Ctsk |
C |
A |
3: 95,416,188 (GRCm39) |
N315K |
probably benign |
Het |
| Cyp2j12 |
G |
T |
4: 96,029,262 (GRCm39) |
D6E |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,939,917 (GRCm39) |
V655A |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,583,593 (GRCm39) |
Y203C |
probably damaging |
Het |
| Dok7 |
A |
T |
5: 35,221,678 (GRCm39) |
D26V |
probably damaging |
Het |
| Epha8 |
G |
A |
4: 136,667,597 (GRCm39) |
H295Y |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 139,990,843 (GRCm39) |
|
probably benign |
Het |
| Fam83c |
A |
G |
2: 155,671,672 (GRCm39) |
S588P |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,881,002 (GRCm39) |
|
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,360,817 (GRCm39) |
|
probably benign |
Het |
| Frmd4b |
A |
G |
6: 97,285,047 (GRCm39) |
V338A |
probably damaging |
Het |
| Fsd1l |
A |
G |
4: 53,694,727 (GRCm39) |
T394A |
probably damaging |
Het |
| Gbf1 |
A |
G |
19: 46,242,549 (GRCm39) |
|
probably benign |
Het |
| Glg1 |
G |
T |
8: 111,886,490 (GRCm39) |
Q1101K |
possibly damaging |
Het |
| Glt8d2 |
T |
A |
10: 82,487,361 (GRCm39) |
|
probably null |
Het |
| Gm19345 |
T |
C |
7: 19,588,855 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
A |
T |
11: 97,226,892 (GRCm39) |
D1754E |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,291,650 (GRCm39) |
T3381A |
probably benign |
Het |
| Igkv12-41 |
G |
A |
6: 69,835,822 (GRCm39) |
T16I |
possibly damaging |
Het |
| Insl5 |
A |
G |
4: 102,875,313 (GRCm39) |
*146Q |
probably null |
Het |
| Iqce |
A |
T |
5: 140,651,957 (GRCm39) |
I655N |
possibly damaging |
Het |
| Irf2bp1 |
G |
A |
7: 18,738,927 (GRCm39) |
R189H |
possibly damaging |
Het |
| Itprid2 |
T |
A |
2: 79,490,810 (GRCm39) |
L976Q |
probably damaging |
Het |
| Kansl3 |
A |
T |
1: 36,384,050 (GRCm39) |
I724N |
probably benign |
Het |
| Kcna4 |
T |
C |
2: 107,126,907 (GRCm39) |
I547T |
probably damaging |
Het |
| Klk1b4 |
A |
T |
7: 43,860,158 (GRCm39) |
I91F |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,457,753 (GRCm39) |
S282P |
probably damaging |
Het |
| Lrrc17 |
G |
A |
5: 21,765,967 (GRCm39) |
A150T |
probably benign |
Het |
| Lrrc2 |
A |
G |
9: 110,809,966 (GRCm39) |
E334G |
possibly damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,866,475 (GRCm39) |
Q1077* |
probably null |
Het |
| Mapk8 |
A |
T |
14: 33,109,264 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
T |
A |
8: 85,638,650 (GRCm39) |
T1560S |
probably benign |
Het |
| Mdh1b |
C |
A |
1: 63,758,777 (GRCm39) |
A272S |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,777,109 (GRCm39) |
Y912H |
probably damaging |
Het |
| Nf1 |
T |
G |
11: 79,299,525 (GRCm39) |
|
probably null |
Het |
| Nme7 |
T |
A |
1: 164,172,944 (GRCm39) |
D218E |
probably damaging |
Het |
| Nsun7 |
T |
A |
5: 66,446,751 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
A |
G |
9: 48,251,870 (GRCm39) |
|
probably null |
Het |
| Or1e34 |
A |
G |
11: 73,778,655 (GRCm39) |
V181A |
probably benign |
Het |
| Or2ag16 |
G |
A |
7: 106,352,196 (GRCm39) |
T133I |
probably benign |
Het |
| Or2n1c |
T |
G |
17: 38,519,286 (GRCm39) |
I50R |
probably benign |
Het |
| Or5p53 |
T |
A |
7: 107,533,375 (GRCm39) |
V216D |
probably damaging |
Het |
| P2ry1 |
T |
C |
3: 60,910,951 (GRCm39) |
V30A |
probably benign |
Het |
| Pgm2 |
T |
A |
5: 64,269,386 (GRCm39) |
I491N |
possibly damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,365,386 (GRCm39) |
D1169V |
probably damaging |
Het |
| Poldip2 |
T |
A |
11: 78,403,189 (GRCm39) |
S18T |
probably benign |
Het |
| Prg4 |
C |
T |
1: 150,331,558 (GRCm39) |
|
probably benign |
Het |
| Prkab2 |
T |
A |
3: 97,574,728 (GRCm39) |
Y241* |
probably null |
Het |
| Prmt7 |
A |
G |
8: 106,953,839 (GRCm39) |
|
probably benign |
Het |
| Proser3 |
T |
A |
7: 30,245,842 (GRCm39) |
R80W |
probably damaging |
Het |
| Prr12 |
A |
G |
7: 44,699,415 (GRCm39) |
|
probably benign |
Het |
| Psmd1 |
A |
T |
1: 86,006,304 (GRCm39) |
L223F |
probably damaging |
Het |
| Rab13 |
A |
G |
3: 90,131,088 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
C |
T |
1: 152,428,347 (GRCm39) |
C294Y |
probably damaging |
Het |
| Rpl21-ps4 |
C |
A |
14: 11,227,556 (GRCm38) |
|
noncoding transcript |
Het |
| Rusc2 |
T |
C |
4: 43,423,954 (GRCm39) |
V1036A |
probably damaging |
Het |
| Sae1 |
T |
A |
7: 16,104,247 (GRCm39) |
K121* |
probably null |
Het |
| Sap130 |
C |
T |
18: 31,813,559 (GRCm39) |
P539S |
probably damaging |
Het |
| Saxo4 |
C |
T |
19: 10,452,418 (GRCm39) |
R364Q |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,424,079 (GRCm39) |
L475P |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,321,198 (GRCm39) |
D1298G |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,222,003 (GRCm39) |
F206L |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,788,534 (GRCm39) |
Y202* |
probably null |
Het |
| Shprh |
T |
A |
10: 11,062,135 (GRCm39) |
C1177S |
possibly damaging |
Het |
| Slc27a6 |
T |
C |
18: 58,742,937 (GRCm39) |
Y542H |
possibly damaging |
Het |
| Slc41a1 |
T |
C |
1: 131,771,650 (GRCm39) |
|
probably benign |
Het |
| Slc46a1 |
T |
C |
11: 78,361,625 (GRCm39) |
F424L |
probably damaging |
Het |
| Slc66a2 |
C |
T |
18: 80,306,733 (GRCm39) |
A101V |
probably benign |
Het |
| Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,493,686 (GRCm39) |
V65A |
probably damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,374,663 (GRCm39) |
S343T |
probably benign |
Het |
| Spcs3 |
C |
A |
8: 54,981,415 (GRCm39) |
R60I |
probably benign |
Het |
| Tbc1d16 |
C |
A |
11: 119,038,401 (GRCm39) |
R764L |
possibly damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,619,838 (GRCm39) |
V63E |
possibly damaging |
Het |
| Tmc1 |
G |
T |
19: 20,766,951 (GRCm39) |
A750E |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,530,320 (GRCm39) |
K83E |
possibly damaging |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tmx3 |
T |
C |
18: 90,558,130 (GRCm39) |
I394T |
probably damaging |
Het |
| Trank1 |
G |
A |
9: 111,195,092 (GRCm39) |
E1039K |
possibly damaging |
Het |
| Trpc4ap |
A |
G |
2: 155,499,866 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
T |
C |
11: 115,706,234 (GRCm39) |
C123R |
probably damaging |
Het |
| Ubtd1 |
A |
G |
19: 42,020,373 (GRCm39) |
D39G |
possibly damaging |
Het |
| Vmn1r181 |
A |
T |
7: 23,683,759 (GRCm39) |
M75L |
probably benign |
Het |
| Zc3h7a |
T |
C |
16: 10,958,601 (GRCm39) |
T847A |
probably damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,313,485 (GRCm39) |
C187R |
probably damaging |
Het |
| Zfp692 |
G |
A |
11: 58,201,229 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
G |
A |
14: 25,654,919 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Itsn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Itsn1
|
APN |
16 |
91,603,089 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01799:Itsn1
|
APN |
16 |
91,645,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02328:Itsn1
|
APN |
16 |
91,612,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02333:Itsn1
|
APN |
16 |
91,617,564 (GRCm39) |
intron |
probably benign |
|
|
IGL02503:Itsn1
|
APN |
16 |
91,686,092 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02628:Itsn1
|
APN |
16 |
91,696,511 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02666:Itsn1
|
APN |
16 |
91,617,606 (GRCm39) |
intron |
probably benign |
|
|
IGL03007:Itsn1
|
APN |
16 |
91,581,050 (GRCm39) |
splice site |
probably benign |
|
|
IGL03223:Itsn1
|
APN |
16 |
91,702,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
raphael
|
UTSW |
16 |
91,617,684 (GRCm39) |
intron |
probably benign |
|
|
Sector
|
UTSW |
16 |
91,705,375 (GRCm39) |
critical splice donor site |
probably null |
|
|
Weevil
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R0234:Itsn1
|
UTSW |
16 |
91,625,168 (GRCm39) |
nonsense |
probably null |
|
|
R0234:Itsn1
|
UTSW |
16 |
91,625,168 (GRCm39) |
nonsense |
probably null |
|
|
R0432:Itsn1
|
UTSW |
16 |
91,612,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Itsn1
|
UTSW |
16 |
91,665,036 (GRCm39) |
intron |
probably benign |
|
|
R0471:Itsn1
|
UTSW |
16 |
91,696,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Itsn1
|
UTSW |
16 |
91,696,511 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0563:Itsn1
|
UTSW |
16 |
91,617,684 (GRCm39) |
intron |
probably benign |
|
|
R1657:Itsn1
|
UTSW |
16 |
91,706,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1671:Itsn1
|
UTSW |
16 |
91,609,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Itsn1
|
UTSW |
16 |
91,613,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1859:Itsn1
|
UTSW |
16 |
91,686,042 (GRCm39) |
intron |
probably benign |
|
|
R1898:Itsn1
|
UTSW |
16 |
91,696,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Itsn1
|
UTSW |
16 |
91,702,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2221:Itsn1
|
UTSW |
16 |
91,650,656 (GRCm39) |
intron |
probably benign |
|
|
R2244:Itsn1
|
UTSW |
16 |
91,650,659 (GRCm39) |
missense |
probably null |
|
|
R3160:Itsn1
|
UTSW |
16 |
91,649,932 (GRCm39) |
nonsense |
probably null |
|
|
R3162:Itsn1
|
UTSW |
16 |
91,649,932 (GRCm39) |
nonsense |
probably null |
|
|
R3814:Itsn1
|
UTSW |
16 |
91,649,809 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4162:Itsn1
|
UTSW |
16 |
91,649,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4254:Itsn1
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R4319:Itsn1
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R4321:Itsn1
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R4323:Itsn1
|
UTSW |
16 |
91,615,440 (GRCm39) |
intron |
probably benign |
|
|
R4326:Itsn1
|
UTSW |
16 |
91,650,743 (GRCm39) |
intron |
probably benign |
|
|
R4515:Itsn1
|
UTSW |
16 |
91,696,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4584:Itsn1
|
UTSW |
16 |
91,617,471 (GRCm39) |
intron |
probably benign |
|
|
R4600:Itsn1
|
UTSW |
16 |
91,696,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Itsn1
|
UTSW |
16 |
91,638,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Itsn1
|
UTSW |
16 |
91,703,677 (GRCm39) |
nonsense |
probably null |
|
|
R4868:Itsn1
|
UTSW |
16 |
91,582,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5036:Itsn1
|
UTSW |
16 |
91,579,123 (GRCm39) |
splice site |
probably benign |
|
|
R5122:Itsn1
|
UTSW |
16 |
91,690,732 (GRCm39) |
intron |
probably benign |
|
|
R5161:Itsn1
|
UTSW |
16 |
91,705,726 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5437:Itsn1
|
UTSW |
16 |
91,615,479 (GRCm39) |
intron |
probably benign |
|
|
R5538:Itsn1
|
UTSW |
16 |
91,580,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Itsn1
|
UTSW |
16 |
91,702,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5697:Itsn1
|
UTSW |
16 |
91,598,477 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5749:Itsn1
|
UTSW |
16 |
91,703,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6083:Itsn1
|
UTSW |
16 |
91,649,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6148:Itsn1
|
UTSW |
16 |
91,613,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Itsn1
|
UTSW |
16 |
91,664,984 (GRCm39) |
intron |
probably benign |
|
|
R6524:Itsn1
|
UTSW |
16 |
91,708,883 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7175:Itsn1
|
UTSW |
16 |
91,664,938 (GRCm39) |
missense |
unknown |
|
|
R7261:Itsn1
|
UTSW |
16 |
91,702,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7320:Itsn1
|
UTSW |
16 |
91,636,587 (GRCm39) |
missense |
unknown |
|
|
R7366:Itsn1
|
UTSW |
16 |
91,705,338 (GRCm39) |
missense |
unknown |
|
|
R7462:Itsn1
|
UTSW |
16 |
91,650,073 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7665:Itsn1
|
UTSW |
16 |
91,638,491 (GRCm39) |
missense |
unknown |
|
|
R7720:Itsn1
|
UTSW |
16 |
91,664,971 (GRCm39) |
missense |
unknown |
|
|
R7856:Itsn1
|
UTSW |
16 |
91,705,375 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7864:Itsn1
|
UTSW |
16 |
91,598,454 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7896:Itsn1
|
UTSW |
16 |
91,615,446 (GRCm39) |
missense |
unknown |
|
|
R7897:Itsn1
|
UTSW |
16 |
91,615,446 (GRCm39) |
missense |
unknown |
|
|
R7980:Itsn1
|
UTSW |
16 |
91,702,182 (GRCm39) |
missense |
unknown |
|
|
R7998:Itsn1
|
UTSW |
16 |
91,647,824 (GRCm39) |
missense |
unknown |
|
|
R8075:Itsn1
|
UTSW |
16 |
91,686,097 (GRCm39) |
missense |
unknown |
|
|
R8144:Itsn1
|
UTSW |
16 |
91,708,893 (GRCm39) |
missense |
unknown |
|
|
R8160:Itsn1
|
UTSW |
16 |
91,615,446 (GRCm39) |
missense |
unknown |
|
|
R8161:Itsn1
|
UTSW |
16 |
91,615,446 (GRCm39) |
missense |
unknown |
|
|
R8176:Itsn1
|
UTSW |
16 |
91,645,597 (GRCm39) |
splice site |
probably null |
|
|
R8215:Itsn1
|
UTSW |
16 |
91,608,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8385:Itsn1
|
UTSW |
16 |
91,690,699 (GRCm39) |
missense |
unknown |
|
|
R8725:Itsn1
|
UTSW |
16 |
91,636,721 (GRCm39) |
missense |
unknown |
|
|
R9012:Itsn1
|
UTSW |
16 |
91,645,849 (GRCm39) |
missense |
unknown |
|
|
R9039:Itsn1
|
UTSW |
16 |
91,703,658 (GRCm39) |
missense |
unknown |
|
|
R9092:Itsn1
|
UTSW |
16 |
91,609,002 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9134:Itsn1
|
UTSW |
16 |
91,666,514 (GRCm39) |
missense |
unknown |
|
|
R9401:Itsn1
|
UTSW |
16 |
91,612,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Itsn1
|
UTSW |
16 |
91,625,264 (GRCm39) |
makesense |
probably null |
|
|
R9568:Itsn1
|
UTSW |
16 |
91,649,782 (GRCm39) |
missense |
probably benign |
|
|
R9616:Itsn1
|
UTSW |
16 |
91,650,055 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGACTGGCTTAGTGGCAGGAC -3'
(R):5'- CTTCAGCAGAGGCACATTGGAGAG -3'
Sequencing Primer
(F):5'- AGTGGCAGGACTTTCCCTC -3'
(R):5'- TTCTAGTTTACCAACAGGAGACAGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation