Incidental Mutation 'R9162:Git1'
| ID |
695796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Git1
|
| Ensembl Gene |
ENSMUSG00000011877 |
| Gene Name |
GIT ArfGAP 1 |
| Synonyms |
p95Cat, Cat-1 |
| MMRRC Submission |
068943-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77384388-77398612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77396331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 565
(I565N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037285]
[ENSMUST00000060417]
[ENSMUST00000100812]
|
| AlphaFold |
Q68FF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037285
AA Change: I565N
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: I565N
| 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 |
probably benign
Transcript: ENSMUST00000100812
AA Change: I556N
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: I556N
| 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,611,732 (GRCm39) |
D516G |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,058,926 (GRCm39) |
M506T |
probably benign |
Het |
| Abhd17a |
T |
C |
10: 80,422,577 (GRCm39) |
Y35C |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,311,721 (GRCm39) |
N1326S |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,414,645 (GRCm39) |
Y8H |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,050,569 (GRCm39) |
V484A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,883 (GRCm39) |
D2623G |
unknown |
Het |
| Cul9 |
A |
C |
17: 46,837,529 (GRCm39) |
D1005E |
probably benign |
Het |
| Dchs1 |
A |
C |
7: 105,414,732 (GRCm39) |
V770G |
probably damaging |
Het |
| Dcst2 |
C |
A |
3: 89,274,088 (GRCm39) |
S213* |
probably null |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,089,215 (GRCm39) |
T926I |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 53,208,504 (GRCm39) |
R86* |
probably null |
Het |
| Fat1 |
T |
C |
8: 45,404,352 (GRCm39) |
F368L |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,455,860 (GRCm39) |
C2097R |
probably damaging |
Het |
| Gpr22 |
A |
G |
12: 31,758,724 (GRCm39) |
V466A |
probably benign |
Het |
| Hacd4 |
T |
A |
4: 88,338,017 (GRCm39) |
T194S |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,445,042 (GRCm39) |
K93R |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,972,450 (GRCm39) |
S478G |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,759,363 (GRCm39) |
S829G |
probably benign |
Het |
| Lnp1 |
A |
T |
16: 56,737,844 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Lrp1 |
C |
T |
10: 127,441,368 (GRCm39) |
A252T |
probably benign |
Het |
| Msl2 |
T |
C |
9: 100,978,928 (GRCm39) |
V434A |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,460,897 (GRCm39) |
I716F |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,958,927 (GRCm39) |
|
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,777,454 (GRCm39) |
Y53* |
probably null |
Het |
| Or5b12 |
A |
T |
19: 12,897,024 (GRCm39) |
Y216* |
probably null |
Het |
| Or7e175 |
A |
G |
9: 20,040,457 (GRCm39) |
I6V |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,123,040 (GRCm39) |
S792T |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,168 (GRCm39) |
S653P |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,601,362 (GRCm39) |
K574R |
probably benign |
Het |
| Scyl3 |
C |
A |
1: 163,773,891 (GRCm39) |
Q372K |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,430,577 (GRCm39) |
D269E |
probably damaging |
Het |
| Siah2 |
C |
A |
3: 58,599,104 (GRCm39) |
G45C |
unknown |
Het |
| Slc4a11 |
T |
A |
2: 130,534,214 (GRCm39) |
D28V |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,939,453 (GRCm39) |
E200V |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,528,301 (GRCm39) |
M412K |
probably damaging |
Het |
| Spata31e1 |
T |
G |
13: 49,939,310 (GRCm39) |
Q800P |
possibly damaging |
Het |
| Spef2 |
T |
G |
15: 9,602,017 (GRCm39) |
N1415T |
unknown |
Het |
| Stat6 |
A |
G |
10: 127,487,089 (GRCm39) |
K199E |
probably damaging |
Het |
| Syndig1l |
A |
G |
12: 84,727,291 (GRCm39) |
F91S |
probably damaging |
Het |
| Tank |
C |
A |
2: 61,480,432 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Tars3 |
G |
A |
7: 65,332,518 (GRCm39) |
E540K |
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,050,415 (GRCm39) |
V70A |
possibly damaging |
Het |
| Tmem87b |
C |
T |
2: 128,681,150 (GRCm39) |
T358I |
probably benign |
Het |
| Ttyh3 |
G |
A |
5: 140,621,820 (GRCm39) |
A42V |
possibly damaging |
Het |
| Xrn1 |
T |
C |
9: 95,915,660 (GRCm39) |
I1261T |
probably benign |
Het |
| Zfp229 |
T |
C |
17: 21,964,495 (GRCm39) |
S242P |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,163,361 (GRCm39) |
C638S |
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 |
|
|
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 |
|
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'- TGCCATCTACTCAGTGCATG -3'
(R):5'- ACTCTGTGTGTTCTCATAGTCACTG -3'
Sequencing Primer
(F):5'- ACTCAGTGCATGTCCCTGC -3'
(R):5'- ATAGTCACTGTCCGCACCACTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation