Incidental Mutation 'R5703:Git1'
ID |
451803 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Git1
|
Ensembl Gene |
ENSMUSG00000011877 |
Gene Name |
GIT ArfGAP 1 |
Synonyms |
p95Cat, Cat-1 |
MMRRC Submission |
043183-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5703 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
77384388-77398612 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CCG to C
at 77395494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037285]
[ENSMUST00000060417]
[ENSMUST00000100812]
|
AlphaFold |
Q68FF6 |
Predicted Effect |
probably null
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: 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 null
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: 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,459,640 (GRCm39) |
N605I |
probably damaging |
Het |
Btd |
C |
T |
14: 31,389,004 (GRCm39) |
R242* |
probably null |
Het |
Cdc42bpg |
A |
G |
19: 6,372,703 (GRCm39) |
D1502G |
possibly damaging |
Het |
Chst2 |
A |
G |
9: 95,286,985 (GRCm39) |
F454L |
probably damaging |
Het |
Col16a1 |
G |
A |
4: 129,947,092 (GRCm39) |
A146T |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,797,183 (GRCm39) |
S399T |
probably benign |
Het |
Dspp |
C |
T |
5: 104,324,917 (GRCm39) |
H427Y |
possibly damaging |
Het |
Dtx4 |
A |
T |
19: 12,459,574 (GRCm39) |
M410K |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,877,171 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
C |
T |
10: 25,317,665 (GRCm39) |
R61W |
probably damaging |
Het |
Gbp6 |
T |
C |
5: 105,421,147 (GRCm39) |
K553E |
probably benign |
Het |
Gm13199 |
C |
T |
2: 5,867,259 (GRCm39) |
|
probably benign |
Het |
Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
Hoxa2 |
G |
T |
6: 52,140,243 (GRCm39) |
Q248K |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,185,577 (GRCm39) |
|
probably null |
Het |
Krt33b |
T |
C |
11: 99,916,374 (GRCm39) |
T228A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,444,573 (GRCm39) |
E324G |
probably damaging |
Het |
Map3k20 |
A |
G |
2: 72,232,514 (GRCm39) |
N390S |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,565,757 (GRCm39) |
Y126H |
possibly damaging |
Het |
Muc4 |
G |
A |
16: 32,555,059 (GRCm39) |
W15* |
probably null |
Het |
Ndrg2 |
T |
A |
14: 52,147,579 (GRCm39) |
|
probably null |
Het |
Ntsr1 |
T |
C |
2: 180,142,226 (GRCm39) |
S6P |
probably damaging |
Het |
Or5m10 |
T |
C |
2: 85,717,783 (GRCm39) |
I213T |
probably benign |
Het |
Or5p70 |
G |
A |
7: 107,994,707 (GRCm39) |
V127I |
probably benign |
Het |
Pcdhb6 |
A |
T |
18: 37,467,753 (GRCm39) |
T225S |
probably benign |
Het |
Rfng |
C |
A |
11: 120,672,842 (GRCm39) |
V294L |
probably benign |
Het |
Scml4 |
C |
T |
10: 42,741,566 (GRCm39) |
|
probably benign |
Het |
Slc5a2 |
A |
G |
7: 127,869,787 (GRCm39) |
I407V |
possibly damaging |
Het |
Strc |
T |
C |
2: 121,201,295 (GRCm39) |
T1267A |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,626,341 (GRCm39) |
V566A |
probably damaging |
Het |
Tas1r2 |
T |
C |
4: 139,394,647 (GRCm39) |
S468P |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,914,626 (GRCm39) |
T2304S |
probably benign |
Het |
Tirap |
A |
T |
9: 35,100,054 (GRCm39) |
L210Q |
probably damaging |
Het |
Vav3 |
A |
T |
3: 109,248,557 (GRCm39) |
Q68L |
probably benign |
Het |
Vmn2r54 |
C |
T |
7: 12,363,594 (GRCm39) |
S433N |
probably benign |
Het |
Wars1 |
A |
T |
12: 108,841,047 (GRCm39) |
Y244N |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,835,372 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAGGCTAAGGCACTGTTG -3'
(R):5'- CCATCTGACAGATCTGAGGAGTC -3'
Sequencing Primer
(F):5'- CACTGTTGCAGGCCCTG -3'
(R):5'- ACAGATCTGAGGAGTCCATGCTC -3'
|
Posted On |
2017-01-03 |