Incidental Mutation 'R1752:Itsn2'
| ID |
193647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itsn2
|
| Ensembl Gene |
ENSMUSG00000020640 |
| Gene Name |
intersectin 2 |
| Synonyms |
Sh3d1B, Sh3p18, Ese2, Eh domain, SH3 domain regulator of endocytosis 2 |
| MMRRC Submission |
039784-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1752 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 4761950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000062580]
[ENSMUST00000111154]
[ENSMUST00000219007]
[ENSMUST00000220311]
[ENSMUST00000222363]
[ENSMUST00000220978]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062580
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
15 |
109 |
8.44e-41 |
SMART |
|
EFh
|
58 |
86 |
7.18e-3 |
SMART |
|
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
231 |
N/A |
INTRINSIC |
|
EH
|
238 |
333 |
4.06e-43 |
SMART |
|
EFh
|
282 |
310 |
6.16e-2 |
SMART |
|
coiled coil region
|
366 |
462 |
N/A |
INTRINSIC |
|
coiled coil region
|
516 |
556 |
N/A |
INTRINSIC |
|
coiled coil region
|
580 |
715 |
N/A |
INTRINSIC |
|
SH3
|
721 |
778 |
2.65e-21 |
SMART |
|
low complexity region
|
791 |
811 |
N/A |
INTRINSIC |
|
SH3
|
855 |
909 |
8.83e-18 |
SMART |
|
SH3
|
945 |
999 |
9.1e-20 |
SMART |
|
SH3
|
1017 |
1077 |
1.55e-13 |
SMART |
|
SH3
|
1091 |
1146 |
7.22e-23 |
SMART |
|
RhoGEF
|
1174 |
1355 |
1.93e-56 |
SMART |
|
PH
|
1396 |
1507 |
1.16e-9 |
SMART |
|
C2
|
1531 |
1628 |
3.96e-19 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000062580
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
15 |
109 |
8.44e-41 |
SMART |
|
EFh
|
58 |
86 |
7.18e-3 |
SMART |
|
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
231 |
N/A |
INTRINSIC |
|
EH
|
238 |
333 |
4.06e-43 |
SMART |
|
EFh
|
282 |
310 |
6.16e-2 |
SMART |
|
coiled coil region
|
366 |
462 |
N/A |
INTRINSIC |
|
coiled coil region
|
516 |
556 |
N/A |
INTRINSIC |
|
coiled coil region
|
580 |
715 |
N/A |
INTRINSIC |
|
SH3
|
721 |
778 |
2.65e-21 |
SMART |
|
low complexity region
|
791 |
811 |
N/A |
INTRINSIC |
|
SH3
|
855 |
909 |
8.83e-18 |
SMART |
|
SH3
|
945 |
999 |
9.1e-20 |
SMART |
|
SH3
|
1017 |
1077 |
1.55e-13 |
SMART |
|
SH3
|
1091 |
1146 |
7.22e-23 |
SMART |
|
RhoGEF
|
1174 |
1355 |
1.93e-56 |
SMART |
|
PH
|
1396 |
1507 |
1.16e-9 |
SMART |
|
C2
|
1531 |
1628 |
3.96e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218211
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220978
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,842,468 (GRCm39) |
V1134A |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,688,375 (GRCm39) |
G420S |
probably damaging |
Het |
| Adam29 |
A |
G |
8: 56,325,309 (GRCm39) |
S382P |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,038,766 (GRCm39) |
L393P |
probably benign |
Het |
| Arhgef19 |
T |
G |
4: 140,978,354 (GRCm39) |
S616A |
probably benign |
Het |
| Atp11a |
C |
T |
8: 12,863,094 (GRCm39) |
T91I |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,830,690 (GRCm39) |
V751I |
probably benign |
Het |
| Ccni |
T |
C |
5: 93,350,315 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
G |
A |
3: 101,183,511 (GRCm39) |
A266V |
probably benign |
Het |
| Cd33 |
T |
C |
7: 43,181,722 (GRCm39) |
D146G |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,346,505 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
C |
17: 15,963,494 (GRCm39) |
|
probably null |
Het |
| Chd5 |
A |
T |
4: 152,459,590 (GRCm39) |
I1109F |
probably damaging |
Het |
| Cir1 |
T |
C |
2: 73,140,882 (GRCm39) |
E29G |
probably damaging |
Het |
| Clec5a |
T |
C |
6: 40,559,187 (GRCm39) |
T66A |
probably damaging |
Het |
| Cpa2 |
A |
G |
6: 30,552,023 (GRCm39) |
D250G |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,961 (GRCm39) |
L707H |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,523,669 (GRCm39) |
T2646A |
probably benign |
Het |
| Cul7 |
G |
A |
17: 46,964,093 (GRCm39) |
R390Q |
probably benign |
Het |
| Cyp2c69 |
T |
A |
19: 39,869,597 (GRCm39) |
I141F |
probably damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,713,434 (GRCm39) |
V470I |
possibly damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,593,850 (GRCm39) |
V530A |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,854,681 (GRCm39) |
F1528L |
probably damaging |
Het |
| Edn1 |
T |
A |
13: 42,457,075 (GRCm39) |
V36E |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,563,404 (GRCm39) |
V319A |
probably benign |
Het |
| Epb41l2 |
A |
G |
10: 25,336,690 (GRCm39) |
K229E |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,550,666 (GRCm39) |
N698S |
probably benign |
Het |
| Fndc7 |
T |
C |
3: 108,776,646 (GRCm39) |
N465S |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,077,622 (GRCm39) |
V793A |
probably benign |
Het |
| Gm9797 |
A |
T |
10: 11,485,287 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b4 |
T |
C |
18: 50,303,834 (GRCm39) |
S436P |
probably benign |
Het |
| Kank3 |
T |
C |
17: 34,038,791 (GRCm39) |
V570A |
probably damaging |
Het |
| Kif13a |
A |
T |
13: 46,951,885 (GRCm39) |
F733Y |
probably damaging |
Het |
| Kif16b |
G |
T |
2: 142,532,586 (GRCm39) |
D1184E |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,764,634 (GRCm39) |
D727G |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,915,736 (GRCm39) |
S504R |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,505,381 (GRCm39) |
T2196A |
possibly damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Luzp2 |
T |
C |
7: 54,914,088 (GRCm39) |
S306P |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,377,465 (GRCm39) |
I1490V |
possibly damaging |
Het |
| Manba |
T |
A |
3: 135,212,706 (GRCm39) |
W72R |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,651,965 (GRCm39) |
V339A |
probably benign |
Het |
| Mnx1 |
A |
G |
5: 29,682,727 (GRCm39) |
S183P |
unknown |
Het |
| Muc5b |
T |
G |
7: 141,421,488 (GRCm39) |
L4326R |
possibly damaging |
Het |
| Myb |
T |
C |
10: 21,032,336 (GRCm39) |
D15G |
possibly damaging |
Het |
| Ncapg2 |
A |
T |
12: 116,390,338 (GRCm39) |
D429V |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,656,511 (GRCm39) |
V42A |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,698,218 (GRCm39) |
C276S |
probably damaging |
Het |
| Nptx2 |
C |
A |
5: 144,492,171 (GRCm39) |
T316N |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,777,600 (GRCm39) |
F135Y |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,837 (GRCm39) |
F57Y |
probably benign |
Het |
| Or4c109 |
C |
A |
2: 88,817,659 (GRCm39) |
A296S |
possibly damaging |
Het |
| Or51ag1 |
T |
A |
7: 103,155,765 (GRCm39) |
R129S |
probably benign |
Het |
| Osbpl11 |
T |
C |
16: 33,025,205 (GRCm39) |
Y144H |
probably damaging |
Het |
| Pax5 |
T |
C |
4: 44,609,729 (GRCm39) |
Y233C |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,998,906 (GRCm39) |
N388S |
probably benign |
Het |
| Plcd3 |
T |
A |
11: 102,971,085 (GRCm39) |
Q157L |
probably benign |
Het |
| Pnma2 |
A |
C |
14: 67,153,785 (GRCm39) |
M70L |
probably benign |
Het |
| Pogk |
T |
C |
1: 166,235,997 (GRCm39) |
K35E |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,176,895 (GRCm39) |
V1227E |
probably benign |
Het |
| Pygm |
T |
A |
19: 6,441,064 (GRCm39) |
V450E |
probably damaging |
Het |
| Rb1 |
T |
A |
14: 73,525,064 (GRCm39) |
I190F |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,423,673 (GRCm39) |
Y2243N |
probably damaging |
Het |
| Slc11a2 |
A |
T |
15: 100,303,687 (GRCm39) |
L182Q |
probably damaging |
Het |
| Slc45a3 |
T |
C |
1: 131,905,259 (GRCm39) |
L94P |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,421 (GRCm39) |
F688S |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,455,480 (GRCm39) |
I196F |
probably damaging |
Het |
| Sprn |
G |
A |
7: 139,733,408 (GRCm39) |
|
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,787,292 (GRCm39) |
D242G |
probably benign |
Het |
| Srpk2 |
A |
G |
5: 23,733,017 (GRCm39) |
I111T |
probably damaging |
Het |
| St8sia4 |
T |
A |
1: 95,519,537 (GRCm39) |
Y317F |
probably benign |
Het |
| Stat5a |
T |
A |
11: 100,774,884 (GRCm39) |
*798K |
probably null |
Het |
| Sult1c2 |
C |
T |
17: 54,271,777 (GRCm39) |
V137M |
possibly damaging |
Het |
| Synj1 |
T |
C |
16: 90,735,361 (GRCm39) |
T1531A |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,193,885 (GRCm39) |
Y1028* |
probably null |
Het |
| Tax1bp1 |
A |
G |
6: 52,698,398 (GRCm39) |
T37A |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,648,768 (GRCm39) |
D1888V |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,536,311 (GRCm39) |
T1994A |
probably damaging |
Het |
| Tmco3 |
A |
C |
8: 13,341,741 (GRCm39) |
D5A |
probably benign |
Het |
| Tnk1 |
T |
A |
11: 69,747,532 (GRCm39) |
N74I |
possibly damaging |
Het |
| Ttc16 |
A |
T |
2: 32,662,162 (GRCm39) |
S120T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,774,448 (GRCm39) |
T2153S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,594,606 (GRCm39) |
V20480A |
probably damaging |
Het |
| Usp4 |
T |
C |
9: 108,251,441 (GRCm39) |
Y539H |
probably damaging |
Het |
| Zar1 |
A |
C |
5: 72,734,715 (GRCm39) |
V168G |
probably damaging |
Het |
| Zcchc9 |
T |
C |
13: 91,953,899 (GRCm39) |
K119E |
possibly damaging |
Het |
| Zfp251 |
T |
C |
15: 76,737,863 (GRCm39) |
N410S |
possibly damaging |
Het |
| Zfp605 |
A |
T |
5: 110,271,639 (GRCm39) |
D10V |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,062,479 (GRCm39) |
N107K |
possibly damaging |
Het |
|
| Other mutations in Itsn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Itsn2
|
APN |
12 |
4,708,027 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00647:Itsn2
|
APN |
12 |
4,663,311 (GRCm39) |
splice site |
probably benign |
|
|
IGL00933:Itsn2
|
APN |
12 |
4,757,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01686:Itsn2
|
APN |
12 |
4,686,693 (GRCm39) |
splice site |
probably benign |
|
|
IGL01873:Itsn2
|
APN |
12 |
4,682,366 (GRCm39) |
splice site |
probably benign |
|
|
IGL02200:Itsn2
|
APN |
12 |
4,686,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02280:Itsn2
|
APN |
12 |
4,758,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02388:Itsn2
|
APN |
12 |
4,679,557 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02938:Itsn2
|
APN |
12 |
4,747,216 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Gopher
|
UTSW |
12 |
4,756,983 (GRCm39) |
nonsense |
probably null |
|
|
inversus
|
UTSW |
12 |
4,689,670 (GRCm39) |
nonsense |
probably null |
|
|
Liberator
|
UTSW |
12 |
4,716,176 (GRCm39) |
nonsense |
probably null |
|
|
rolled
|
UTSW |
12 |
4,684,792 (GRCm39) |
nonsense |
probably null |
|
|
Stratofortress
|
UTSW |
12 |
4,674,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Underground
|
UTSW |
12 |
4,751,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Vole
|
UTSW |
12 |
4,723,420 (GRCm39) |
nonsense |
probably null |
|
|
R0101:Itsn2
|
UTSW |
12 |
4,683,058 (GRCm39) |
unclassified |
probably benign |
|
|
R0268:Itsn2
|
UTSW |
12 |
4,750,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0584:Itsn2
|
UTSW |
12 |
4,747,180 (GRCm39) |
missense |
probably benign |
|
|
R0604:Itsn2
|
UTSW |
12 |
4,708,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0639:Itsn2
|
UTSW |
12 |
4,762,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0738:Itsn2
|
UTSW |
12 |
4,685,681 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1132:Itsn2
|
UTSW |
12 |
4,708,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Itsn2
|
UTSW |
12 |
4,762,009 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1169:Itsn2
|
UTSW |
12 |
4,689,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1258:Itsn2
|
UTSW |
12 |
4,723,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1297:Itsn2
|
UTSW |
12 |
4,750,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Itsn2
|
UTSW |
12 |
4,723,572 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1572:Itsn2
|
UTSW |
12 |
4,700,044 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1601:Itsn2
|
UTSW |
12 |
4,708,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1628:Itsn2
|
UTSW |
12 |
4,679,652 (GRCm39) |
missense |
probably benign |
|
|
R1650:Itsn2
|
UTSW |
12 |
4,687,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1758:Itsn2
|
UTSW |
12 |
4,708,160 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1942:Itsn2
|
UTSW |
12 |
4,689,670 (GRCm39) |
nonsense |
probably null |
|
|
R1976:Itsn2
|
UTSW |
12 |
4,722,733 (GRCm39) |
splice site |
probably benign |
|
|
R2000:Itsn2
|
UTSW |
12 |
4,716,176 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Itsn2
|
UTSW |
12 |
4,677,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Itsn2
|
UTSW |
12 |
4,757,025 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2168:Itsn2
|
UTSW |
12 |
4,683,044 (GRCm39) |
unclassified |
probably benign |
|
|
R2394:Itsn2
|
UTSW |
12 |
4,757,005 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2860:Itsn2
|
UTSW |
12 |
4,750,315 (GRCm39) |
splice site |
probably benign |
|
|
R2861:Itsn2
|
UTSW |
12 |
4,750,315 (GRCm39) |
splice site |
probably benign |
|
|
R2900:Itsn2
|
UTSW |
12 |
4,680,713 (GRCm39) |
unclassified |
probably benign |
|
|
R2991:Itsn2
|
UTSW |
12 |
4,708,474 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3087:Itsn2
|
UTSW |
12 |
4,716,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Itsn2
|
UTSW |
12 |
4,684,546 (GRCm39) |
unclassified |
probably benign |
|
|
R4022:Itsn2
|
UTSW |
12 |
4,674,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4332:Itsn2
|
UTSW |
12 |
4,762,611 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4657:Itsn2
|
UTSW |
12 |
4,763,197 (GRCm39) |
makesense |
probably null |
|
|
R4727:Itsn2
|
UTSW |
12 |
4,757,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4745:Itsn2
|
UTSW |
12 |
4,711,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Itsn2
|
UTSW |
12 |
4,677,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Itsn2
|
UTSW |
12 |
4,684,583 (GRCm39) |
unclassified |
probably benign |
|
|
R5269:Itsn2
|
UTSW |
12 |
4,683,553 (GRCm39) |
unclassified |
probably benign |
|
|
R5314:Itsn2
|
UTSW |
12 |
4,677,960 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5345:Itsn2
|
UTSW |
12 |
4,722,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Itsn2
|
UTSW |
12 |
4,703,535 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5566:Itsn2
|
UTSW |
12 |
4,676,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5725:Itsn2
|
UTSW |
12 |
4,680,767 (GRCm39) |
unclassified |
probably benign |
|
|
R5773:Itsn2
|
UTSW |
12 |
4,757,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Itsn2
|
UTSW |
12 |
4,679,939 (GRCm39) |
unclassified |
probably benign |
|
|
R6254:Itsn2
|
UTSW |
12 |
4,674,982 (GRCm39) |
splice site |
probably null |
|
|
R6325:Itsn2
|
UTSW |
12 |
4,756,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Itsn2
|
UTSW |
12 |
4,679,655 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6456:Itsn2
|
UTSW |
12 |
4,679,923 (GRCm39) |
unclassified |
probably benign |
|
|
R6494:Itsn2
|
UTSW |
12 |
4,684,792 (GRCm39) |
nonsense |
probably null |
|
|
R6854:Itsn2
|
UTSW |
12 |
4,702,382 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6941:Itsn2
|
UTSW |
12 |
4,679,641 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6961:Itsn2
|
UTSW |
12 |
4,723,420 (GRCm39) |
nonsense |
probably null |
|
|
R7326:Itsn2
|
UTSW |
12 |
4,682,985 (GRCm39) |
missense |
unknown |
|
|
R7387:Itsn2
|
UTSW |
12 |
4,689,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7465:Itsn2
|
UTSW |
12 |
4,756,983 (GRCm39) |
nonsense |
probably null |
|
|
R7471:Itsn2
|
UTSW |
12 |
4,758,198 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7814:Itsn2
|
UTSW |
12 |
4,708,561 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7854:Itsn2
|
UTSW |
12 |
4,751,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Itsn2
|
UTSW |
12 |
4,751,265 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7990:Itsn2
|
UTSW |
12 |
4,685,629 (GRCm39) |
missense |
unknown |
|
|
R8009:Itsn2
|
UTSW |
12 |
4,714,553 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8115:Itsn2
|
UTSW |
12 |
4,723,602 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8143:Itsn2
|
UTSW |
12 |
4,683,003 (GRCm39) |
missense |
unknown |
|
|
R8248:Itsn2
|
UTSW |
12 |
4,712,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8735:Itsn2
|
UTSW |
12 |
4,721,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Itsn2
|
UTSW |
12 |
4,751,337 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9018:Itsn2
|
UTSW |
12 |
4,708,091 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9386:Itsn2
|
UTSW |
12 |
4,679,730 (GRCm39) |
missense |
unknown |
|
|
R9681:Itsn2
|
UTSW |
12 |
4,683,499 (GRCm39) |
missense |
unknown |
|
|
Z1088:Itsn2
|
UTSW |
12 |
4,762,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCAGGAGCTGGAAGCATAGCC -3'
(R):5'- TGCATTCTCGTGCAGTAGCAGTC -3'
Sequencing Primer
(F):5'- GCATAGCCAATGGCAGAGC -3'
(R):5'- CTGTGAATGATATTGGCCCAATCC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation