Incidental Mutation 'R5984:Git1'
| ID |
481568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Git1
|
| Ensembl Gene |
ENSMUSG00000011877 |
| Gene Name |
GIT ArfGAP 1 |
| Synonyms |
p95Cat, Cat-1 |
| MMRRC Submission |
043251-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77384388-77398612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77397309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 721
(P721S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037285]
[ENSMUST00000060417]
[ENSMUST00000100812]
|
| AlphaFold |
Q68FF6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037285
AA Change: P730S
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: P730S
| 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: ENSMUST00000060417
|
| SMART Domains |
Protein: ENSMUSP00000057592
Gene: ENSMUSG00000044328
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
299 |
N/A |
INTRINSIC |
|
transmembrane domain
|
303 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100812
AA Change: P721S
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: P721S
| 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: ENSMUST00000124690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136101
|
| SMART Domains |
Protein: ENSMUSP00000122898
Gene: ENSMUSG00000044328
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
176 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,439,165 (GRCm39) |
L130F |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,137,881 (GRCm39) |
T420A |
possibly damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,412 (GRCm39) |
I795T |
probably damaging |
Het |
| Atpsckmt |
C |
T |
15: 31,617,065 (GRCm39) |
R99* |
probably null |
Het |
| Crlf2 |
G |
A |
5: 109,703,469 (GRCm39) |
P92L |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,386,458 (GRCm39) |
Y492C |
probably damaging |
Het |
| Dna2 |
G |
C |
10: 62,798,285 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,211,344 (GRCm39) |
H982R |
probably benign |
Het |
| F13b |
A |
G |
1: 139,435,950 (GRCm39) |
D252G |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,887,049 (GRCm39) |
E151V |
probably damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,488,573 (GRCm39) |
T264A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,047,587 (GRCm39) |
E329G |
probably damaging |
Het |
| Hcn3 |
T |
C |
3: 89,055,570 (GRCm39) |
E559G |
probably benign |
Het |
| Invs |
G |
A |
4: 48,421,674 (GRCm39) |
A769T |
probably benign |
Het |
| Ism2 |
T |
A |
12: 87,333,809 (GRCm39) |
T79S |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,377,773 (GRCm39) |
E1673K |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,111,656 (GRCm39) |
L792H |
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,543 (GRCm39) |
S380T |
probably benign |
Het |
| Mff |
A |
G |
1: 82,708,848 (GRCm39) |
I66V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,623,284 (GRCm39) |
K2045E |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,364,120 (GRCm39) |
W4393L |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,690,407 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8k32 |
A |
T |
2: 86,368,512 (GRCm39) |
V249E |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,733 (GRCm39) |
D414G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,835,022 (GRCm39) |
E149G |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,666 (GRCm39) |
R240G |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,927 (GRCm39) |
F389Y |
possibly damaging |
Het |
| Prex1 |
T |
G |
2: 166,427,664 (GRCm39) |
D826A |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,454 (GRCm39) |
S253T |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,957,459 (GRCm39) |
D705G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,655,335 (GRCm39) |
N544I |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,618,685 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,595 (GRCm39) |
Y207H |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,613,082 (GRCm39) |
R836H |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,212 (GRCm39) |
T32A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,810,982 (GRCm39) |
M1L |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,759,561 (GRCm39) |
D190G |
possibly damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,068,464 (GRCm39) |
D1677N |
probably damaging |
Het |
| Tmem132e |
G |
A |
11: 82,335,923 (GRCm39) |
D1002N |
probably damaging |
Het |
| Usp8 |
C |
A |
2: 126,584,401 (GRCm39) |
Q526K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,597 (GRCm39) |
S488G |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,344,272 (GRCm39) |
S318P |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGATGCAGGTAAGCTGAC -3'
(R):5'- TGGCACTAAGGGCACTTGTG -3'
Sequencing Primer
(F):5'- ACTGCTGCCTGGGTGGAG -3'
(R):5'- AGTGTCTGGAGTGGCCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation