Incidental Mutation 'R4897:Rabgap1'
| ID |
375788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1
|
| Ensembl Gene |
ENSMUSG00000035437 |
| Gene Name |
RAB GTPase activating protein 1 |
| Synonyms |
Gapcena |
| MMRRC Submission |
042501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R4897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37450583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 904
(S904P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000112920]
[ENSMUST00000183690]
|
| AlphaFold |
A2AWA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061179
AA Change: S904P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: S904P
| 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 benign
Transcript: ENSMUST00000112920
AA Change: S904P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: S904P
| 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 |
0.0701 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
C |
A |
2: 35,266,309 (GRCm39) |
M120I |
probably damaging |
Het |
| 4933427D14Rik |
A |
T |
11: 72,082,342 (GRCm39) |
L328Q |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,709,704 (GRCm39) |
|
probably null |
Het |
| Ankrd46 |
A |
T |
15: 36,484,279 (GRCm39) |
|
probably benign |
Het |
| Arhgef18 |
A |
T |
8: 3,494,979 (GRCm39) |
M413L |
probably benign |
Het |
| Atp6v1e1 |
G |
A |
6: 120,781,044 (GRCm39) |
T87M |
probably null |
Het |
| Bap1 |
T |
C |
14: 30,980,402 (GRCm39) |
|
probably benign |
Het |
| Brf1 |
A |
G |
12: 112,929,507 (GRCm39) |
L385P |
probably benign |
Het |
| C1qtnf1 |
A |
T |
11: 118,338,938 (GRCm39) |
N203Y |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
| Ccnjl |
A |
C |
11: 43,470,718 (GRCm39) |
D162A |
probably damaging |
Het |
| Cd248 |
A |
C |
19: 5,119,195 (GRCm39) |
I348L |
probably benign |
Het |
| Cdc20 |
T |
C |
4: 118,293,029 (GRCm39) |
T265A |
probably benign |
Het |
| Cdca5 |
T |
A |
19: 6,140,427 (GRCm39) |
L196* |
probably null |
Het |
| Cdk4 |
T |
A |
10: 126,900,444 (GRCm39) |
|
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Clec4b2 |
G |
T |
6: 123,177,999 (GRCm39) |
E105* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,909,600 (GRCm39) |
D1404E |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,989,496 (GRCm39) |
Y3308C |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,969,419 (GRCm39) |
Y2260D |
probably damaging |
Het |
| Dock8 |
T |
G |
19: 25,159,001 (GRCm39) |
S1720A |
probably benign |
Het |
| Erc1 |
A |
G |
6: 119,754,947 (GRCm39) |
|
probably null |
Het |
| Ergic1 |
A |
G |
17: 26,848,597 (GRCm39) |
I66V |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,843,158 (GRCm39) |
T1029A |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,034,781 (GRCm39) |
Y2811F |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,306,110 (GRCm39) |
M310T |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,892,355 (GRCm39) |
C844S |
probably benign |
Het |
| Gas2l2 |
C |
A |
11: 83,320,041 (GRCm39) |
V72F |
probably damaging |
Het |
| Gm14401 |
T |
A |
2: 176,778,573 (GRCm39) |
C220S |
probably damaging |
Het |
| Hmmr |
A |
T |
11: 40,619,261 (GRCm39) |
V73E |
probably benign |
Het |
| Idi2l |
T |
G |
13: 8,990,637 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
G |
T |
2: 62,465,358 (GRCm39) |
|
probably benign |
Het |
| Jak3 |
A |
G |
8: 72,138,048 (GRCm39) |
E833G |
probably damaging |
Het |
| Lama2 |
TTTGCGCATT |
TTT |
10: 26,919,639 (GRCm39) |
|
probably null |
Het |
| Ldb1 |
G |
A |
19: 46,023,132 (GRCm39) |
A217V |
probably benign |
Het |
| Lrrc8c |
A |
G |
5: 105,755,955 (GRCm39) |
T577A |
probably benign |
Het |
| Mfn1 |
T |
A |
3: 32,600,711 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,298,474 (GRCm39) |
P2187S |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,323,952 (GRCm39) |
D1096E |
probably benign |
Het |
| Msi1 |
A |
G |
5: 115,573,654 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
T |
A |
3: 88,819,559 (GRCm39) |
I152F |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,803,800 (GRCm39) |
R2060G |
probably benign |
Het |
| Nnt |
A |
T |
13: 119,541,107 (GRCm39) |
C44* |
probably null |
Het |
| Nup210l |
A |
G |
3: 90,100,378 (GRCm39) |
D1468G |
probably damaging |
Het |
| Or1j16 |
T |
C |
2: 36,530,906 (GRCm39) |
L285P |
probably damaging |
Het |
| Or4c10b |
A |
G |
2: 89,711,476 (GRCm39) |
E102G |
probably benign |
Het |
| Or5d46 |
C |
A |
2: 88,174,686 (GRCm39) |
C129F |
possibly damaging |
Het |
| Or7a40 |
T |
C |
16: 16,491,482 (GRCm39) |
D121G |
probably damaging |
Het |
| P2rx3 |
G |
A |
2: 84,855,270 (GRCm39) |
T62I |
probably damaging |
Het |
| Pabpc4l |
G |
T |
3: 46,401,578 (GRCm39) |
T22K |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,108,646 (GRCm39) |
D557G |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,639,298 (GRCm39) |
K608R |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,939 (GRCm39) |
S369G |
probably damaging |
Het |
| Plod1 |
T |
C |
4: 148,004,736 (GRCm39) |
I455V |
probably benign |
Het |
| Prune2 |
A |
T |
19: 17,099,219 (GRCm39) |
E1574D |
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,680,472 (GRCm39) |
L96H |
probably damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,815,467 (GRCm39) |
V176I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,771,459 (GRCm39) |
M1K |
probably null |
Het |
| Serinc4 |
T |
A |
2: 121,282,905 (GRCm39) |
Y419F |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,056 (GRCm39) |
M192K |
possibly damaging |
Het |
| Spata21 |
T |
A |
4: 140,832,261 (GRCm39) |
M474K |
probably damaging |
Het |
| Stpg1 |
T |
C |
4: 135,246,676 (GRCm39) |
S135P |
possibly damaging |
Het |
| Tdrkh |
A |
G |
3: 94,336,671 (GRCm39) |
D481G |
probably damaging |
Het |
| Ube2e1 |
A |
C |
14: 18,285,268 (GRCm38) |
S68R |
probably damaging |
Het |
| Vcpip1 |
A |
C |
1: 9,817,572 (GRCm39) |
N270K |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,650,675 (GRCm39) |
F154L |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,153,684 (GRCm39) |
|
probably benign |
Het |
| Xdh |
C |
A |
17: 74,207,703 (GRCm39) |
V885L |
probably benign |
Het |
| Zfp141 |
A |
T |
7: 42,125,629 (GRCm39) |
V281D |
probably benign |
Het |
| Zfp317 |
T |
A |
9: 19,558,143 (GRCm39) |
I119N |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,314,608 (GRCm39) |
R310C |
probably benign |
Het |
| Zfp760 |
G |
A |
17: 21,942,229 (GRCm39) |
C468Y |
probably benign |
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 |
|
R0117:Rabgap1
|
UTSW |
2 |
37,451,897 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- TCTACCTTCTCACAATAGGAGCC -3'
(R):5'- CTGGTCCCACCTCAAATGATG -3'
Sequencing Primer
(F):5'- CCCAAGTTCTGAGCTCATAATGAGTG -3'
(R):5'- CCTCAAATGATGTACTAACTCATGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation