Incidental Mutation 'IGL00401:Git1'
ID |
4538 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Git1
|
Ensembl Gene |
ENSMUSG00000011877 |
Gene Name |
GIT ArfGAP 1 |
Synonyms |
p95Cat, Cat-1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00401
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
77384388-77398612 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 77389782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037285]
[ENSMUST00000100812]
|
AlphaFold |
Q68FF6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037285
|
SMART Domains |
Protein: ENSMUSP00000037210 Gene: ENSMUSG00000011877
Domain | Start | End | E-Value | Type |
ArfGap
|
1 |
124 |
1.82e-45 |
SMART |
ANK
|
132 |
161 |
2.55e2 |
SMART |
ANK
|
166 |
195 |
2.47e0 |
SMART |
ANK
|
199 |
228 |
4.6e0 |
SMART |
GIT
|
273 |
303 |
1.01e-10 |
SMART |
GIT
|
337 |
367 |
1.99e-9 |
SMART |
Pfam:GIT_CC
|
418 |
483 |
8.6e-34 |
PFAM |
Pfam:GIT1_C
|
647 |
763 |
3.2e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100812
|
SMART Domains |
Protein: ENSMUSP00000098375 Gene: ENSMUSG00000011877
Domain | Start | End | E-Value | Type |
ArfGap
|
1 |
124 |
1.82e-45 |
SMART |
ANK
|
132 |
161 |
2.55e2 |
SMART |
ANK
|
166 |
195 |
2.47e0 |
SMART |
ANK
|
199 |
228 |
4.6e0 |
SMART |
GIT
|
264 |
294 |
1.01e-10 |
SMART |
GIT
|
328 |
358 |
1.99e-9 |
SMART |
PDB:2W6A|B
|
417 |
473 |
3e-28 |
PDB |
low complexity region
|
474 |
484 |
N/A |
INTRINSIC |
Pfam:GIT1_C
|
632 |
756 |
4.9e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127302
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152428
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality associated with abnormal lung vascular development with surviving mice exhibiting abnormal learning and anxiety related behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alk |
T |
A |
17: 72,202,743 (GRCm39) |
D1164V |
probably damaging |
Het |
Baiap3 |
T |
G |
17: 25,463,302 (GRCm39) |
L964F |
probably damaging |
Het |
Cacna2d2 |
T |
A |
9: 107,392,072 (GRCm39) |
V471E |
probably damaging |
Het |
Carmil3 |
C |
T |
14: 55,735,755 (GRCm39) |
T569M |
probably damaging |
Het |
Dapk2 |
G |
T |
9: 66,176,060 (GRCm39) |
|
probably benign |
Het |
Eps15l1 |
A |
T |
8: 73,138,682 (GRCm39) |
Y291* |
probably null |
Het |
Fancd2 |
T |
C |
6: 113,541,357 (GRCm39) |
|
probably null |
Het |
Fmnl2 |
T |
G |
2: 53,004,929 (GRCm39) |
D674E |
probably damaging |
Het |
Foxq1 |
A |
T |
13: 31,743,260 (GRCm39) |
I121F |
probably damaging |
Het |
Galnt13 |
C |
T |
2: 54,406,547 (GRCm39) |
|
probably benign |
Het |
Gm10220 |
A |
T |
5: 26,323,609 (GRCm39) |
F146Y |
possibly damaging |
Het |
Gm7353 |
A |
G |
7: 3,160,630 (GRCm39) |
|
noncoding transcript |
Het |
Hspa9 |
G |
A |
18: 35,071,633 (GRCm39) |
|
probably benign |
Het |
Kptn |
A |
G |
7: 15,854,050 (GRCm39) |
D56G |
possibly damaging |
Het |
Krtap4-13 |
A |
T |
11: 99,700,543 (GRCm39) |
C39S |
unknown |
Het |
Lgsn |
A |
G |
1: 31,242,647 (GRCm39) |
K243R |
possibly damaging |
Het |
Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
Mettl3 |
T |
A |
14: 52,534,424 (GRCm39) |
|
probably benign |
Het |
Myh6 |
T |
A |
14: 55,190,874 (GRCm39) |
M934L |
probably benign |
Het |
Nmnat2 |
A |
G |
1: 152,969,863 (GRCm39) |
|
probably null |
Het |
Pias2 |
T |
A |
18: 77,220,907 (GRCm39) |
C381S |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
Smc4 |
T |
A |
3: 68,937,712 (GRCm39) |
D887E |
probably damaging |
Het |
Sorcs2 |
C |
A |
5: 36,194,745 (GRCm39) |
|
probably null |
Het |
Tet2 |
T |
C |
3: 133,172,643 (GRCm39) |
E1873G |
possibly damaging |
Het |
Txlng |
T |
A |
X: 161,565,305 (GRCm39) |
K341* |
probably null |
Het |
Ugt2b37 |
T |
A |
5: 87,390,340 (GRCm39) |
T369S |
possibly damaging |
Het |
Usp46 |
C |
A |
5: 74,163,832 (GRCm39) |
V302F |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,808,683 (GRCm39) |
C1454R |
probably benign |
Het |
|
Other mutations in Git1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Git1
|
APN |
11 |
77,396,783 (GRCm39) |
missense |
probably benign |
|
IGL02143:Git1
|
APN |
11 |
77,396,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02451:Git1
|
APN |
11 |
77,391,513 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02474:Git1
|
APN |
11 |
77,394,217 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02517:Git1
|
APN |
11 |
77,390,413 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02933:Git1
|
APN |
11 |
77,391,902 (GRCm39) |
missense |
probably damaging |
0.98 |
R0148:Git1
|
UTSW |
11 |
77,396,554 (GRCm39) |
missense |
probably benign |
0.28 |
R0195:Git1
|
UTSW |
11 |
77,391,899 (GRCm39) |
missense |
probably benign |
0.07 |
R0762:Git1
|
UTSW |
11 |
77,390,660 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1439:Git1
|
UTSW |
11 |
77,397,244 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1739:Git1
|
UTSW |
11 |
77,389,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R4471:Git1
|
UTSW |
11 |
77,390,650 (GRCm39) |
missense |
probably benign |
0.26 |
R4482:Git1
|
UTSW |
11 |
77,391,333 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4653:Git1
|
UTSW |
11 |
77,395,869 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4783:Git1
|
UTSW |
11 |
77,390,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R5014:Git1
|
UTSW |
11 |
77,389,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R5703:Git1
|
UTSW |
11 |
77,395,494 (GRCm39) |
frame shift |
probably null |
|
R5984:Git1
|
UTSW |
11 |
77,397,309 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6962:Git1
|
UTSW |
11 |
77,395,469 (GRCm39) |
missense |
probably benign |
0.31 |
R6972:Git1
|
UTSW |
11 |
77,390,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R7012:Git1
|
UTSW |
11 |
77,390,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R8204:Git1
|
UTSW |
11 |
77,396,161 (GRCm39) |
missense |
probably benign |
0.23 |
R9072:Git1
|
UTSW |
11 |
77,389,901 (GRCm39) |
missense |
probably benign |
0.03 |
R9073:Git1
|
UTSW |
11 |
77,389,901 (GRCm39) |
missense |
probably benign |
0.03 |
R9124:Git1
|
UTSW |
11 |
77,395,498 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9126:Git1
|
UTSW |
11 |
77,390,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R9162:Git1
|
UTSW |
11 |
77,396,331 (GRCm39) |
missense |
probably benign |
0.31 |
R9658:Git1
|
UTSW |
11 |
77,390,581 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Git1
|
UTSW |
11 |
77,389,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-04-20 |