Incidental Mutation 'R0117:Rabgap1'
| ID |
20856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1
|
| Ensembl Gene |
ENSMUSG00000035437 |
| Gene Name |
RAB GTPase activating protein 1 |
| Synonyms |
Gapcena |
| MMRRC Submission |
038403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R0117 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 37451897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000061179]
[ENSMUST00000112920]
[ENSMUST00000112920]
[ENSMUST00000183690]
|
| AlphaFold |
A2AWA9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061179
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
PTB
|
138 |
271 |
2.99e-30 |
SMART |
|
Pfam:DUF3694
|
301 |
433 |
1.1e-38 |
PFAM |
|
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
TBC
|
558 |
770 |
9.27e-74 |
SMART |
|
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
|
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000061179
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
PTB
|
138 |
271 |
2.99e-30 |
SMART |
|
Pfam:DUF3694
|
301 |
433 |
1.1e-38 |
PFAM |
|
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
TBC
|
558 |
770 |
9.27e-74 |
SMART |
|
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
|
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112920
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
PTB
|
138 |
271 |
2.99e-30 |
SMART |
|
Pfam:DUF3694
|
301 |
432 |
1.6e-35 |
PFAM |
|
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
TBC
|
558 |
770 |
9.27e-74 |
SMART |
|
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
|
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112920
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
PTB
|
138 |
271 |
2.99e-30 |
SMART |
|
Pfam:DUF3694
|
301 |
432 |
1.6e-35 |
PFAM |
|
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
TBC
|
558 |
770 |
9.27e-74 |
SMART |
|
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
|
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159092
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183690
|
| SMART Domains |
Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
| Domain | Start | End | E-Value | Type |
|---|
|
DZF
|
81 |
334 |
2.45e-168 |
SMART |
|
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
|
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
|
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
|
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.1%
|
| Validation Efficiency |
95% (59/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
A |
T |
17: 33,999,776 (GRCm39) |
I141K |
probably damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,194 (GRCm39) |
D102E |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,947,368 (GRCm39) |
T486A |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,640,817 (GRCm39) |
T624A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,983,808 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
C |
18: 67,759,744 (GRCm39) |
Y323C |
possibly damaging |
Het |
| CK137956 |
T |
A |
4: 127,840,585 (GRCm39) |
T374S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,539 (GRCm39) |
F359I |
probably benign |
Het |
| Cyp4f13 |
G |
T |
17: 33,149,580 (GRCm39) |
H194Q |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,240,016 (GRCm39) |
D667E |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,106,037 (GRCm39) |
R716* |
probably null |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
A |
13: 45,670,560 (GRCm39) |
|
probably null |
Het |
| Gsta5 |
C |
T |
9: 78,211,700 (GRCm39) |
T154I |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,863,359 (GRCm39) |
|
probably benign |
Het |
| Htr2a |
G |
A |
14: 74,882,533 (GRCm39) |
R173H |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,082,005 (GRCm39) |
N979S |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,670 (GRCm39) |
Y417C |
probably damaging |
Het |
| Lmf1 |
G |
T |
17: 25,874,965 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,790,036 (GRCm39) |
R659C |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,413,832 (GRCm39) |
V416A |
possibly damaging |
Het |
| Mgarp |
G |
T |
3: 51,304,133 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
G |
A |
11: 101,891,399 (GRCm39) |
P580S |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Ninl |
G |
A |
2: 150,779,593 (GRCm39) |
R269W |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,595 (GRCm39) |
E2G |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,056,146 (GRCm39) |
I250N |
probably damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,214 (GRCm39) |
I221F |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,244,561 (GRCm39) |
L1173* |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,139,979 (GRCm39) |
E314G |
probably damaging |
Het |
| Peds1 |
A |
G |
2: 167,486,678 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,623,003 (GRCm39) |
M1V |
probably null |
Het |
| Pkdrej |
T |
A |
15: 85,700,300 (GRCm39) |
|
probably null |
Het |
| Plch2 |
T |
A |
4: 155,069,815 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
G |
A |
11: 70,448,214 (GRCm39) |
R887Q |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,934,286 (GRCm39) |
D838G |
possibly damaging |
Het |
| Postn |
C |
T |
3: 54,290,902 (GRCm39) |
|
probably benign |
Het |
| Prl8a8 |
T |
A |
13: 27,692,473 (GRCm39) |
I172F |
probably damaging |
Het |
| Psmc4 |
A |
T |
7: 27,742,165 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,986,484 (GRCm39) |
S1017P |
probably benign |
Het |
| Rbak |
G |
T |
5: 143,159,387 (GRCm39) |
Y555* |
probably null |
Het |
| Serpina1c |
T |
G |
12: 103,861,271 (GRCm39) |
*414C |
probably null |
Het |
| Sntb1 |
A |
G |
15: 55,769,749 (GRCm39) |
V80A |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,944,873 (GRCm39) |
V884A |
probably benign |
Het |
| Stmnd1 |
C |
A |
13: 46,438,962 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Tgm5 |
C |
T |
2: 120,905,583 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
T |
C |
2: 174,299,577 (GRCm39) |
S420P |
probably benign |
Het |
| Tvp23b |
T |
C |
11: 62,770,430 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,347,464 (GRCm39) |
A3235V |
possibly damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,488,427 (GRCm39) |
S122P |
possibly damaging |
Het |
|
| Other mutations in Rabgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Rabgap1
|
APN |
2 |
37,359,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01456:Rabgap1
|
APN |
2 |
37,431,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01599:Rabgap1
|
APN |
2 |
37,446,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01834:Rabgap1
|
APN |
2 |
37,454,773 (GRCm39) |
intron |
probably benign |
|
|
IGL01940:Rabgap1
|
APN |
2 |
37,377,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02416:Rabgap1
|
APN |
2 |
37,451,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02683:Rabgap1
|
APN |
2 |
37,392,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Rabgap1
|
APN |
2 |
37,427,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02999:Rabgap1
|
APN |
2 |
37,373,838 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03144:Rabgap1
|
APN |
2 |
37,430,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Dread
|
UTSW |
2 |
37,427,319 (GRCm39) |
nonsense |
probably null |
|
|
Evanescence
|
UTSW |
2 |
37,422,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
foreboding
|
UTSW |
2 |
37,422,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Temporality
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02796:Rabgap1
|
UTSW |
2 |
37,362,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0455:Rabgap1
|
UTSW |
2 |
37,377,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Rabgap1
|
UTSW |
2 |
37,379,729 (GRCm39) |
intron |
probably benign |
|
|
R0586:Rabgap1
|
UTSW |
2 |
37,433,235 (GRCm39) |
missense |
probably benign |
|
|
R0962:Rabgap1
|
UTSW |
2 |
37,450,481 (GRCm39) |
intron |
probably benign |
|
|
R1055:Rabgap1
|
UTSW |
2 |
37,382,080 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1086:Rabgap1
|
UTSW |
2 |
37,359,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1251:Rabgap1
|
UTSW |
2 |
37,433,246 (GRCm39) |
splice site |
probably null |
|
|
R1598:Rabgap1
|
UTSW |
2 |
37,451,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Rabgap1
|
UTSW |
2 |
37,385,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1957:Rabgap1
|
UTSW |
2 |
37,373,774 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2134:Rabgap1
|
UTSW |
2 |
37,453,499 (GRCm39) |
nonsense |
probably null |
|
|
R2154:Rabgap1
|
UTSW |
2 |
37,365,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Rabgap1
|
UTSW |
2 |
37,422,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4351:Rabgap1
|
UTSW |
2 |
37,373,794 (GRCm39) |
missense |
probably benign |
|
|
R4658:Rabgap1
|
UTSW |
2 |
37,377,561 (GRCm39) |
nonsense |
probably null |
|
|
R4821:Rabgap1
|
UTSW |
2 |
37,422,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Rabgap1
|
UTSW |
2 |
37,450,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5014:Rabgap1
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5252:Rabgap1
|
UTSW |
2 |
37,365,369 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5392:Rabgap1
|
UTSW |
2 |
37,359,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5794:Rabgap1
|
UTSW |
2 |
37,392,914 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5941:Rabgap1
|
UTSW |
2 |
37,451,908 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6002:Rabgap1
|
UTSW |
2 |
37,363,614 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6209:Rabgap1
|
UTSW |
2 |
37,453,610 (GRCm39) |
nonsense |
probably null |
|
|
R6317:Rabgap1
|
UTSW |
2 |
37,432,659 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7011:Rabgap1
|
UTSW |
2 |
37,430,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Rabgap1
|
UTSW |
2 |
37,450,575 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7514:Rabgap1
|
UTSW |
2 |
37,427,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7543:Rabgap1
|
UTSW |
2 |
37,359,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7599:Rabgap1
|
UTSW |
2 |
37,392,908 (GRCm39) |
frame shift |
probably null |
|
|
R7709:Rabgap1
|
UTSW |
2 |
37,427,339 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7784:Rabgap1
|
UTSW |
2 |
37,377,544 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7816:Rabgap1
|
UTSW |
2 |
37,453,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7834:Rabgap1
|
UTSW |
2 |
37,359,419 (GRCm39) |
intron |
probably benign |
|
|
R7869:Rabgap1
|
UTSW |
2 |
37,377,142 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7888:Rabgap1
|
UTSW |
2 |
37,427,319 (GRCm39) |
nonsense |
probably null |
|
|
R7949:Rabgap1
|
UTSW |
2 |
37,453,491 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8084:Rabgap1
|
UTSW |
2 |
37,427,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8333:Rabgap1
|
UTSW |
2 |
37,385,710 (GRCm39) |
missense |
probably benign |
|
|
R8440:Rabgap1
|
UTSW |
2 |
37,432,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9210:Rabgap1
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9212:Rabgap1
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9574:Rabgap1
|
UTSW |
2 |
37,433,246 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Rabgap1
|
UTSW |
2 |
37,450,556 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Rabgap1
|
UTSW |
2 |
37,359,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAGTGCCCAGCATATAGGAG -3'
(R):5'- TGAATTAAGAATCCCCGCCTCAAGC -3'
Sequencing Primer
(F):5'- GGAGTCTGAATATTAGCAAACCAC -3'
(R):5'- TTGTTGAACCTGAACCAGGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation