Incidental Mutation 'IGL02933:Git1'
| ID |
364193 |
| 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 # |
IGL02933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
77384388-77398612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 77391902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 241
(H241Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037285]
[ENSMUST00000100812]
|
| AlphaFold |
Q68FF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037285
AA Change: H241Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: H241Q
| 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 damaging
Transcript: ENSMUST00000100812
AA Change: H241Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: H241Q
| 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: ENSMUST00000128796
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
G |
T |
7: 44,012,436 (GRCm39) |
S24Y |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,250,790 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,612,881 (GRCm39) |
T1485I |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,473,740 (GRCm39) |
N357D |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,644,697 (GRCm39) |
F267S |
possibly damaging |
Het |
| C2cd2 |
A |
T |
16: 97,693,401 (GRCm39) |
F157I |
probably benign |
Het |
| Cd55 |
T |
C |
1: 130,380,261 (GRCm39) |
E239G |
probably damaging |
Het |
| Cnpy1 |
T |
A |
5: 28,412,119 (GRCm39) |
H138L |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,896,966 (GRCm39) |
V373A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,567 (GRCm39) |
S880T |
probably benign |
Het |
| Etv1 |
C |
T |
12: 38,831,832 (GRCm39) |
T27I |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,908 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
C |
11: 59,694,583 (GRCm39) |
S130G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,902 (GRCm39) |
|
probably benign |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Idh1 |
C |
T |
1: 65,201,072 (GRCm39) |
S293N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,214,402 (GRCm39) |
S1449P |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,968,087 (GRCm39) |
L141Q |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,661 (GRCm39) |
I109T |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,596 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,310 (GRCm39) |
Y60N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,117,991 (GRCm39) |
I578T |
probably damaging |
Het |
| Reg2 |
A |
G |
6: 78,384,917 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,484 (GRCm39) |
S902G |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,232,504 (GRCm39) |
T259M |
probably damaging |
Het |
| Traf1 |
C |
A |
2: 34,839,107 (GRCm39) |
D73Y |
possibly damaging |
Het |
| Trnt1 |
G |
A |
6: 106,750,387 (GRCm39) |
G97D |
probably benign |
Het |
| Ttll11 |
T |
C |
2: 35,869,422 (GRCm39) |
H72R |
probably benign |
Het |
| Txndc12 |
T |
C |
4: 108,715,193 (GRCm39) |
|
probably null |
Het |
| Zan |
C |
A |
5: 137,426,676 (GRCm39) |
S2490I |
unknown |
Het |
| Zfp955a |
T |
C |
17: 33,462,683 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
C |
12: 79,326,854 (GRCm39) |
S756R |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,670,238 (GRCm39) |
N412S |
possibly damaging |
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 |
|
|
IGL00401:Git1
|
APN |
11 |
77,389,782 (GRCm39) |
splice site |
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 |
|
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 |
2015-12-18 |
Incidental Mutation