Incidental Mutation 'R7543:Rabgap1'
| ID |
583990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1
|
| Ensembl Gene |
ENSMUSG00000035437 |
| Gene Name |
RAB GTPase activating protein 1 |
| Synonyms |
Gapcena |
| MMRRC Submission |
045615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R7543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37359444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 2
(D2E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000133434]
[ENSMUST00000148470]
|
| AlphaFold |
A2AWA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061179
AA Change: D2E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: D2E
| 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: D2E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: D2E
| 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: D2E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: D2E
| 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: D2E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121963
Gene: ENSMUSG00000035437
AA Change: D2E
| 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 |
|
| Meta Mutation Damage Score |
0.1001 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,559,920 (GRCm39) |
S54T |
probably damaging |
Het |
| Acsl5 |
G |
A |
19: 55,266,615 (GRCm39) |
V59I |
|
Het |
| Acss2 |
A |
T |
2: 155,391,755 (GRCm39) |
I203F |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,083,207 (GRCm39) |
N435S |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,889,972 (GRCm39) |
D88G |
probably benign |
Het |
| Ajm1 |
C |
A |
2: 25,467,410 (GRCm39) |
A834S |
possibly damaging |
Het |
| Ank3 |
C |
T |
10: 69,786,846 (GRCm39) |
T970M |
possibly damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,115,894 (GRCm39) |
|
probably null |
Het |
| Apc2 |
A |
G |
10: 80,150,720 (GRCm39) |
K1925E |
possibly damaging |
Het |
| Aspscr1 |
A |
G |
11: 120,600,249 (GRCm39) |
N130D |
unknown |
Het |
| B3glct |
A |
G |
5: 149,677,604 (GRCm39) |
D411G |
probably damaging |
Het |
| Bard1 |
T |
C |
1: 71,114,589 (GRCm39) |
K131E |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,609,066 (GRCm39) |
D120G |
probably damaging |
Het |
| Brms1l |
A |
T |
12: 55,914,997 (GRCm39) |
D302V |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,718,572 (GRCm39) |
Y56* |
probably null |
Het |
| Cela3a |
T |
A |
4: 137,129,883 (GRCm39) |
H246L |
probably damaging |
Het |
| Col11a2 |
A |
T |
17: 34,269,430 (GRCm39) |
D440V |
unknown |
Het |
| Cplane1 |
T |
C |
15: 8,254,876 (GRCm39) |
I21T |
unknown |
Het |
| Dag1 |
C |
T |
9: 108,095,280 (GRCm39) |
V71I |
probably benign |
Het |
| Ddx23 |
A |
G |
15: 98,556,139 (GRCm39) |
S60P |
unknown |
Het |
| Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
| Dync1i1 |
T |
C |
6: 5,784,464 (GRCm39) |
S103P |
possibly damaging |
Het |
| Erap1 |
T |
A |
13: 74,822,753 (GRCm39) |
D755E |
probably damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,669 (GRCm39) |
T221A |
probably benign |
Het |
| Fbxo4 |
T |
C |
15: 4,007,385 (GRCm39) |
D93G |
probably damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,999 (GRCm39) |
V254A |
probably damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,341 (GRCm39) |
V281A |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,107,086 (GRCm39) |
I774K |
probably benign |
Het |
| Gpr132 |
A |
C |
12: 112,815,822 (GRCm39) |
C335G |
probably benign |
Het |
| Gpr162 |
G |
T |
6: 124,838,355 (GRCm39) |
Y98* |
probably null |
Het |
| H2-T24 |
T |
C |
17: 36,325,743 (GRCm39) |
T283A |
possibly damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,186 (GRCm39) |
Y50C |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,486,199 (GRCm39) |
N53S |
possibly damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,431,425 (GRCm39) |
K60R |
possibly damaging |
Het |
| Kif24 |
A |
T |
4: 41,413,993 (GRCm39) |
Y316* |
probably null |
Het |
| Krt18 |
A |
G |
15: 101,939,896 (GRCm39) |
K365E |
probably damaging |
Het |
| Lrguk |
T |
A |
6: 34,025,870 (GRCm39) |
L222* |
probably null |
Het |
| Mbd1 |
T |
G |
18: 74,407,520 (GRCm39) |
V210G |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,499,155 (GRCm39) |
I90V |
not run |
Het |
| Muc16 |
A |
G |
9: 18,556,028 (GRCm39) |
S3422P |
unknown |
Het |
| Mynn |
G |
A |
3: 30,661,188 (GRCm39) |
W90* |
probably null |
Het |
| Or5p5 |
T |
A |
7: 107,414,308 (GRCm39) |
N172K |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,859,520 (GRCm39) |
H687Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,814,227 (GRCm39) |
E4199G |
probably damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,192,491 (GRCm39) |
E517G |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,299,837 (GRCm39) |
D1644G |
probably damaging |
Het |
| Pon1 |
C |
T |
6: 5,168,400 (GRCm39) |
V336M |
possibly damaging |
Het |
| Pop1 |
T |
A |
15: 34,530,593 (GRCm39) |
L1027Q |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,124,993 (GRCm39) |
S306P |
probably damaging |
Het |
| Prpsap2 |
A |
T |
11: 61,635,797 (GRCm39) |
F168I |
possibly damaging |
Het |
| Rgmb |
A |
T |
17: 16,027,777 (GRCm39) |
L314Q |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,653,317 (GRCm39) |
|
probably null |
Het |
| Samd4b |
A |
T |
7: 28,113,711 (GRCm39) |
S85T |
probably benign |
Het |
| Sfrp5 |
T |
C |
19: 42,187,302 (GRCm39) |
D256G |
possibly damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,365,106 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
G |
6: 143,786,905 (GRCm39) |
I589T |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,546,848 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 75,953,616 (GRCm39) |
E515G |
possibly damaging |
Het |
| Tbc1d17 |
G |
A |
7: 44,495,503 (GRCm39) |
A107V |
probably benign |
Het |
| Tcstv2c |
A |
C |
13: 120,616,290 (GRCm39) |
E43A |
probably damaging |
Het |
| Tex50 |
G |
T |
1: 160,984,817 (GRCm39) |
T141K |
possibly damaging |
Het |
| Tmc7 |
A |
G |
7: 118,144,979 (GRCm39) |
L527P |
probably benign |
Het |
| Tns4 |
T |
A |
11: 98,963,079 (GRCm39) |
D547V |
probably benign |
Het |
| Topors |
A |
G |
4: 40,268,312 (GRCm39) |
S65P |
probably damaging |
Het |
| Trdc |
T |
A |
14: 54,381,692 (GRCm39) |
S126T |
|
Het |
| Ttc27 |
A |
T |
17: 75,024,745 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,083,925 (GRCm39) |
I787S |
probably benign |
Het |
| Zc3h11a |
T |
C |
1: 133,554,768 (GRCm39) |
D404G |
possibly damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,534 (GRCm39) |
I244T |
probably benign |
Het |
| Zfp93 |
A |
G |
7: 23,974,533 (GRCm39) |
T173A |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,495,953 (GRCm39) |
L29F |
probably 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 |
|
|
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 |
|
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'- GCAGCCCTATAAGTAGGTGGTG -3'
(R):5'- GTTTAGCAAGGCACACTTTGG -3'
Sequencing Primer
(F):5'- TCTTGACCTACATAGCACAGAATATC -3'
(R):5'- GGCTGTCAAACTTTACCTTGAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation