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 |
Incidental Mutation