Incidental Mutation 'R6972:Git1'
ID |
542312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Git1
|
Ensembl Gene |
ENSMUSG00000011877 |
Gene Name |
GIT ArfGAP 1 |
Synonyms |
p95Cat, Cat-1 |
MMRRC Submission |
045082-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6972 (G1)
|
Quality Score |
153.008 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77384388-77398612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 77390347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 64
(V64G)
|
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: V64G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037210 Gene: ENSMUSG00000011877 AA Change: V64G
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: V64G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098375 Gene: ENSMUSG00000011877 AA Change: V64G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.8%
|
Validation Efficiency |
100% (41/41) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
A |
G |
7: 79,003,775 (GRCm39) |
S285G |
probably benign |
Het |
Afg1l |
T |
C |
10: 42,354,370 (GRCm39) |
T10A |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
Bdp1 |
T |
C |
13: 100,174,269 (GRCm39) |
E2089G |
probably null |
Het |
Calcrl |
T |
G |
2: 84,198,922 (GRCm39) |
I156L |
probably benign |
Het |
Cd69 |
T |
C |
6: 129,246,543 (GRCm39) |
S122G |
probably benign |
Het |
Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
A |
2: 91,436,658 (GRCm39) |
I1586K |
probably damaging |
Het |
Cyp4f14 |
C |
T |
17: 33,124,483 (GRCm39) |
A523T |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,723,971 (GRCm39) |
C466* |
probably null |
Het |
Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,842,439 (GRCm39) |
I220V |
probably benign |
Het |
Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
Fuz |
T |
C |
7: 44,546,755 (GRCm39) |
|
probably benign |
Het |
Gpr162 |
C |
T |
6: 124,838,272 (GRCm39) |
R126H |
probably damaging |
Het |
Grm5 |
T |
C |
7: 87,252,131 (GRCm39) |
V127A |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,653,750 (GRCm39) |
D665G |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 191,959,144 (GRCm39) |
I233V |
probably damaging |
Het |
Lmcd1 |
C |
T |
6: 112,287,659 (GRCm39) |
T115I |
probably damaging |
Het |
Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
Or2ag16 |
A |
G |
7: 106,351,906 (GRCm39) |
S230P |
possibly damaging |
Het |
Orc4 |
T |
C |
2: 48,817,196 (GRCm39) |
Q164R |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,582,745 (GRCm39) |
V617E |
probably damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Plscr3 |
G |
A |
11: 69,738,784 (GRCm39) |
E149K |
probably damaging |
Het |
Pltp |
A |
G |
2: 164,688,512 (GRCm39) |
|
probably null |
Het |
Pramel11 |
A |
G |
4: 143,623,472 (GRCm39) |
L234P |
probably damaging |
Het |
Prg2 |
G |
A |
2: 84,812,617 (GRCm39) |
R109H |
probably benign |
Het |
Ptprj |
G |
A |
2: 90,410,747 (GRCm39) |
S62F |
possibly damaging |
Het |
Resf1 |
T |
A |
6: 149,227,607 (GRCm39) |
Y218N |
probably damaging |
Het |
Skint3 |
T |
A |
4: 112,116,089 (GRCm39) |
S240T |
probably damaging |
Het |
Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,946,404 (GRCm39) |
V409A |
possibly damaging |
Het |
Tafa2 |
A |
G |
10: 123,540,278 (GRCm39) |
T45A |
probably benign |
Het |
Trim29 |
T |
A |
9: 43,238,409 (GRCm39) |
N504K |
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,452,202 (GRCm39) |
Y461H |
probably damaging |
Het |
Zeb2 |
T |
C |
2: 44,887,330 (GRCm39) |
K531E |
probably damaging |
Het |
Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCAAGCTCTGAAACGTTCTG -3'
(R):5'- TTAGGGAAGAGACCTTTCAGGC -3'
Sequencing Primer
(F):5'- ACGTTCTGAAGCTTGGCGAAC -3'
(R):5'- AGACCTTTCAGGCCCCGTC -3'
|
Posted On |
2018-11-28 |