Incidental Mutation 'R2154:Rabgap1'
| ID |
234590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1
|
| Ensembl Gene |
ENSMUSG00000035437 |
| Gene Name |
RAB GTPase activating protein 1 |
| Synonyms |
Gapcena |
| MMRRC Submission |
040157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R2154 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37365453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 242
(V242A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000133434]
[ENSMUST00000148470]
|
| AlphaFold |
A2AWA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061179
AA Change: V242A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: V242A
| 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 damaging
Transcript: ENSMUST00000066055
AA Change: V242A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: V242A
| 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 |
7.1e-39 |
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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112920
AA Change: V242A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: V242A
| 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 damaging
Transcript: ENSMUST00000133434
AA Change: V242A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121963
Gene: ENSMUSG00000035437
AA Change: V242A
| 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 |
7.2e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148470
|
| SMART Domains |
Protein: ENSMUSP00000119831
Gene: ENSMUSG00000035437
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ddma_
|
68 |
148 |
2e-17 |
SMART |
|
Blast:PTB
|
70 |
148 |
1e-51 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153145
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,208,959 (GRCm39) |
E363G |
probably benign |
Het |
| Abca3 |
A |
G |
17: 24,596,693 (GRCm39) |
Y382C |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,183,000 (GRCm39) |
I1019T |
probably benign |
Het |
| Acox3 |
A |
T |
5: 35,762,568 (GRCm39) |
S481C |
probably damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,870,030 (GRCm39) |
M261K |
probably benign |
Het |
| Aqr |
A |
C |
2: 113,967,485 (GRCm39) |
M510R |
probably damaging |
Het |
| Arpc1a |
A |
T |
5: 145,029,369 (GRCm39) |
T56S |
probably benign |
Het |
| Asap2 |
A |
T |
12: 21,162,084 (GRCm39) |
T14S |
probably damaging |
Het |
| Aspg |
A |
G |
12: 112,087,408 (GRCm39) |
E288G |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,482,841 (GRCm39) |
N901S |
probably benign |
Het |
| Cabcoco1 |
A |
G |
10: 68,267,092 (GRCm39) |
L205P |
probably damaging |
Het |
| Cant1 |
A |
G |
11: 118,302,263 (GRCm39) |
L18P |
probably damaging |
Het |
| Cdca2 |
G |
A |
14: 67,914,425 (GRCm39) |
P945S |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,513,753 (GRCm39) |
K522E |
possibly damaging |
Het |
| Chek1 |
C |
A |
9: 36,635,279 (GRCm39) |
V35F |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,407,547 (GRCm39) |
M330K |
probably damaging |
Het |
| Creb3l4 |
G |
T |
3: 90,145,792 (GRCm39) |
N246K |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,022,819 (GRCm39) |
V319D |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,877,317 (GRCm39) |
S519T |
probably benign |
Het |
| Dhx38 |
T |
C |
8: 110,287,306 (GRCm39) |
S221G |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,214,545 (GRCm39) |
N981I |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,870,661 (GRCm39) |
V1467E |
probably damaging |
Het |
| Dock4 |
ACCTGCTCTGCC |
ACCTGCTCTGCCTGCTCTGCC |
12: 40,894,547 (GRCm39) |
|
probably benign |
Het |
| Dok5 |
G |
A |
2: 170,642,816 (GRCm39) |
G38D |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,013,821 (GRCm39) |
S631P |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,688 (GRCm39) |
S194C |
probably damaging |
Het |
| Fcsk |
T |
A |
8: 111,615,704 (GRCm39) |
T542S |
probably benign |
Het |
| Garem2 |
T |
C |
5: 30,313,297 (GRCm39) |
S54P |
probably damaging |
Het |
| Gdf10 |
T |
C |
14: 33,656,346 (GRCm39) |
I436T |
probably damaging |
Het |
| Gfod1 |
T |
C |
13: 43,456,946 (GRCm39) |
T10A |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,018,458 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
G |
T |
17: 79,138,873 (GRCm39) |
Q90K |
probably benign |
Het |
| Ikzf3 |
T |
A |
11: 98,376,475 (GRCm39) |
K211* |
probably null |
Het |
| Itgam |
A |
C |
7: 127,684,749 (GRCm39) |
D373A |
probably damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,089,107 (GRCm39) |
F484S |
probably damaging |
Het |
| Kat6b |
A |
T |
14: 21,718,735 (GRCm39) |
H1138L |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,532,500 (GRCm39) |
K1213R |
probably damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Mmp25 |
T |
A |
17: 23,850,048 (GRCm39) |
Y504F |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,228,797 (GRCm39) |
K38E |
possibly damaging |
Het |
| Myh14 |
A |
C |
7: 44,301,853 (GRCm39) |
|
probably null |
Het |
| Nedd4l |
T |
A |
18: 65,343,401 (GRCm39) |
H820Q |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,307,240 (GRCm39) |
T562A |
probably benign |
Het |
| Or8b49 |
G |
T |
9: 38,505,707 (GRCm39) |
L63F |
probably damaging |
Het |
| Pds5a |
A |
T |
5: 65,807,841 (GRCm39) |
V464E |
probably damaging |
Het |
| Peak1 |
C |
T |
9: 56,114,496 (GRCm39) |
V452M |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,973,549 (GRCm39) |
Y372C |
unknown |
Het |
| Poc1a |
T |
A |
9: 106,162,773 (GRCm39) |
|
probably null |
Het |
| Prss33 |
C |
T |
17: 24,053,817 (GRCm39) |
V87M |
probably damaging |
Het |
| Psmc2 |
C |
G |
5: 22,008,127 (GRCm39) |
L344V |
possibly damaging |
Het |
| Ptpn12 |
C |
A |
5: 21,207,466 (GRCm39) |
Q297H |
probably damaging |
Het |
| Rad1 |
C |
A |
15: 10,486,721 (GRCm39) |
H39Q |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,986 (GRCm39) |
H636R |
probably benign |
Het |
| Samd9l |
C |
T |
6: 3,372,945 (GRCm39) |
D1439N |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,516,574 (GRCm39) |
D1266E |
probably benign |
Het |
| Sidt2 |
T |
C |
9: 45,856,638 (GRCm39) |
D477G |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,753 (GRCm39) |
K125R |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,139,402 (GRCm39) |
Y771H |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,757,299 (GRCm39) |
|
probably benign |
Het |
| Spinkl |
A |
T |
18: 44,302,194 (GRCm39) |
N32K |
probably benign |
Het |
| Stxbp1 |
T |
A |
2: 32,692,868 (GRCm39) |
I383F |
probably damaging |
Het |
| Taf3 |
C |
T |
2: 9,956,377 (GRCm39) |
E597K |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,209,842 (GRCm39) |
T432A |
probably damaging |
Het |
| Tmco6 |
T |
C |
18: 36,874,740 (GRCm39) |
V409A |
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,129,235 (GRCm39) |
T198A |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,063 (GRCm39) |
M84K |
probably damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,965 (GRCm39) |
S2C |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,816,805 (GRCm39) |
T259S |
probably benign |
Het |
| Vmn2r70 |
A |
G |
7: 85,212,923 (GRCm39) |
S495P |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,167,584 (GRCm39) |
R613* |
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,052,520 (GRCm39) |
L58P |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,412,511 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,466,801 (GRCm39) |
T2320A |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,227,774 (GRCm39) |
D1945G |
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 |
|
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 |
|
|
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'- TCTCTCTGGACAAATACCCTAATG -3'
(R):5'- TCTGTGGCACTTGTAGCAAC -3'
Sequencing Primer
(F):5'- AAGTTGCTCATTATTAATCTCTTGCC -3'
(R):5'- CACTTGTAGCAACAGAGATAGTGGTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation