Incidental Mutation 'R5749:Itsn1'
| ID |
445939 |
| 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 |
043200-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
91526198-91717479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91703743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 87
(L87H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064797]
[ENSMUST00000114002]
[ENSMUST00000141625]
[ENSMUST00000159295]
[ENSMUST00000231735]
[ENSMUST00000231852]
|
| AlphaFold |
Q9Z0R4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000064797
AA Change: L1549H
|
| SMART Domains |
Protein: ENSMUSP00000066361
Gene: ENSMUSG00000022957
AA Change: L1549H
| 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 |
unknown
Transcript: ENSMUST00000114002
AA Change: L1544H
|
| SMART Domains |
Protein: ENSMUSP00000109635
Gene: ENSMUSG00000022957
AA Change: L1544H
| 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 |
unknown
Transcript: ENSMUST00000125052
AA Change: L259H
|
| SMART Domains |
Protein: ENSMUSP00000115985
Gene: ENSMUSG00000022957
AA Change: L259H
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
6 |
185 |
1.19e-38 |
SMART |
|
PH
|
172 |
282 |
6.07e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131739
|
| SMART Domains |
Protein: ENSMUSP00000114145
Gene: ENSMUSG00000022957
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ki1b1
|
2 |
46 |
2e-11 |
SMART |
|
Blast:PH
|
2 |
58 |
5e-32 |
BLAST |
|
PDB:3QBV|D
|
2 |
59 |
8e-33 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141625
AA Change: L87H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115563
Gene: ENSMUSG00000022957
AA Change: L87H
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
109 |
2.02e0 |
SMART |
|
Pfam:C2
|
134 |
173 |
7.4e-6 |
PFAM |
|
| 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 damaging
Transcript: ENSMUST00000231735
AA Change: L109H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231852
AA Change: L109H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232198
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
G |
A |
11: 54,214,881 (GRCm39) |
|
probably null |
Het |
| Ankrd12 |
T |
C |
17: 66,293,091 (GRCm39) |
S781G |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,782,799 (GRCm39) |
S523P |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,571,309 (GRCm39) |
C44* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,873,156 (GRCm39) |
T400A |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,216,965 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,844 (GRCm39) |
I242T |
possibly damaging |
Het |
| Efnb2 |
A |
C |
8: 8,689,347 (GRCm39) |
C92G |
probably damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,057 (GRCm39) |
S137R |
possibly damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,704,288 (GRCm39) |
L324P |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,849 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,045,983 (GRCm39) |
|
probably null |
Het |
| Ifi209 |
A |
C |
1: 173,464,893 (GRCm39) |
I8L |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,889 (GRCm39) |
E182G |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,790,210 (GRCm39) |
I160T |
probably benign |
Het |
| Lbp |
T |
A |
2: 158,161,673 (GRCm39) |
V52D |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,764,347 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myo16 |
C |
T |
8: 10,463,245 (GRCm39) |
S604L |
probably benign |
Het |
| Or10ag52 |
C |
T |
2: 87,043,287 (GRCm39) |
T17I |
probably benign |
Het |
| Or10g1 |
T |
A |
14: 52,647,961 (GRCm39) |
M123L |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,589 (GRCm39) |
V28A |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,928,966 (GRCm39) |
N292K |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,525 (GRCm39) |
D346G |
probably damaging |
Het |
| Ppara |
A |
T |
15: 85,673,229 (GRCm39) |
D140V |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Prss36 |
T |
A |
7: 127,532,814 (GRCm39) |
I192F |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,258,776 (GRCm39) |
E300G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,738,424 (GRCm39) |
F26L |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,073,101 (GRCm39) |
T796S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,267 (GRCm39) |
H3508R |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,081,529 (GRCm39) |
D1282V |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,310 (GRCm39) |
E59G |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,177 (GRCm39) |
H1040Q |
probably benign |
Het |
| Usp10 |
G |
A |
8: 120,667,872 (GRCm39) |
E58K |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
| Vmn2r52 |
C |
T |
7: 9,892,959 (GRCm39) |
D727N |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,979 (GRCm39) |
K346* |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,546 (GRCm39) |
F2I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,332,780 (GRCm39) |
S69P |
probably benign |
Het |
| Zftraf1 |
A |
C |
15: 76,542,844 (GRCm39) |
|
probably null |
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 |
|
|
R0255:Itsn1
|
UTSW |
16 |
91,602,978 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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'- CACCTGCCGTCTAGATTACTGG -3'
(R):5'- CTCATGCCAGATGTCTAACTTTTG -3'
Sequencing Primer
(F):5'- CTAGATTACTGGGTTGCACGCAC -3'
(R):5'- ATGATACCACTGCAGTGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation