Incidental Mutation 'R4658:Rabgap1'
| ID |
352573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1
|
| Ensembl Gene |
ENSMUSG00000035437 |
| Gene Name |
RAB GTPase activating protein 1 |
| Synonyms |
Gapcena |
| MMRRC Submission |
041918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R4658 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 37377561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 353
(R353*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000133434]
[ENSMUST00000183690]
|
| AlphaFold |
A2AWA9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061179
AA Change: R353*
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: R353*
| 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: ENSMUST00000066055
AA Change: R353*
|
| SMART Domains |
Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: R353*
| 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 null
Transcript: ENSMUST00000112920
AA Change: R353*
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: R353*
| 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: ENSMUST00000130601
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133434
AA Change: R353*
|
| SMART Domains |
Protein: ENSMUSP00000121963
Gene: ENSMUSG00000035437
AA Change: R353*
| 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 |
noncoding transcript
Transcript: ENSMUST00000153145
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203017
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
99% (88/89) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,338,625 (GRCm39) |
R778S |
probably damaging |
Het |
| Adam17 |
A |
G |
12: 21,382,161 (GRCm39) |
C567R |
probably damaging |
Het |
| Ankrd28 |
G |
A |
14: 31,432,825 (GRCm39) |
A758V |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,775,349 (GRCm39) |
Y151H |
probably damaging |
Het |
| B3gat3 |
A |
G |
19: 8,902,996 (GRCm39) |
T118A |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,228,367 (GRCm39) |
C822R |
probably damaging |
Het |
| Capn15 |
G |
T |
17: 26,179,742 (GRCm39) |
Q807K |
probably benign |
Het |
| Clec12a |
T |
C |
6: 129,331,493 (GRCm39) |
Y145H |
probably damaging |
Het |
| Clk1 |
T |
C |
1: 58,452,146 (GRCm39) |
I393V |
probably benign |
Het |
| Cpm |
A |
G |
10: 117,503,956 (GRCm39) |
I121V |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,279,448 (GRCm39) |
I405T |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,549,874 (GRCm39) |
S3471P |
probably damaging |
Het |
| Dok6 |
A |
G |
18: 89,491,971 (GRCm39) |
|
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,504,684 (GRCm39) |
D1124V |
possibly damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,933,443 (GRCm39) |
E1756G |
probably damaging |
Het |
| Exo5 |
A |
G |
4: 120,779,748 (GRCm39) |
V39A |
probably benign |
Het |
| Fmnl1 |
A |
T |
11: 103,088,520 (GRCm39) |
I90F |
probably damaging |
Het |
| Fryl |
G |
T |
5: 73,238,396 (GRCm39) |
T1450K |
probably damaging |
Het |
| Gde1 |
T |
C |
7: 118,293,751 (GRCm39) |
M91V |
probably benign |
Het |
| Gimd1 |
T |
C |
3: 132,350,343 (GRCm39) |
I84T |
probably damaging |
Het |
| Gm13889 |
C |
T |
2: 93,787,453 (GRCm39) |
|
probably benign |
Het |
| Gm6445 |
T |
A |
19: 9,585,561 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8113 |
T |
C |
14: 44,169,867 (GRCm39) |
S483P |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,399,888 (GRCm39) |
I281V |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,760,152 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,386,773 (GRCm39) |
I3796F |
possibly damaging |
Het |
| Hoxb13 |
A |
T |
11: 96,085,309 (GRCm39) |
D14V |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,261,041 (GRCm39) |
Y1645C |
probably damaging |
Het |
| Igkv8-16 |
G |
T |
6: 70,363,762 (GRCm39) |
R87S |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,760,054 (GRCm39) |
V140E |
possibly damaging |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,917 (GRCm39) |
D505E |
possibly damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,427,583 (GRCm39) |
C300Y |
probably damaging |
Het |
| Kmt2d |
G |
C |
15: 98,750,410 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,578,493 (GRCm39) |
V539A |
probably benign |
Het |
| Lipo5 |
C |
T |
19: 33,441,922 (GRCm39) |
G200D |
unknown |
Het |
| Lmo7 |
C |
A |
14: 102,124,393 (GRCm39) |
A284D |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mcpt8 |
T |
C |
14: 56,321,285 (GRCm39) |
M60V |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,730,749 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
A |
G |
7: 64,038,722 (GRCm39) |
|
probably null |
Het |
| Muc5b |
G |
A |
7: 141,395,135 (GRCm39) |
S47N |
unknown |
Het |
| Notch3 |
A |
T |
17: 32,373,737 (GRCm39) |
N490K |
probably damaging |
Het |
| Nr1d1 |
G |
A |
11: 98,662,738 (GRCm39) |
S85L |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,945,114 (GRCm39) |
R4635* |
probably null |
Het |
| Or10al5 |
G |
T |
17: 38,063,054 (GRCm39) |
C103F |
probably damaging |
Het |
| Or13f5 |
T |
C |
4: 52,826,240 (GRCm39) |
L281P |
probably damaging |
Het |
| Or9i16 |
T |
C |
19: 13,864,912 (GRCm39) |
I221V |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,233,033 (GRCm39) |
|
probably null |
Het |
| Pcdhb17 |
G |
A |
18: 37,619,652 (GRCm39) |
G481S |
probably damaging |
Het |
| Pde1a |
TCC |
TC |
2: 79,728,525 (GRCm39) |
|
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,902,169 (GRCm39) |
M48K |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,843,933 (GRCm39) |
V613E |
probably damaging |
Het |
| Poc1a |
T |
C |
9: 106,226,887 (GRCm39) |
S327P |
possibly damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,927,321 (GRCm39) |
H66R |
probably benign |
Het |
| Rcc1l |
G |
T |
5: 134,200,729 (GRCm39) |
N134K |
probably damaging |
Het |
| Rims1 |
G |
A |
1: 22,497,793 (GRCm39) |
T787I |
probably damaging |
Het |
| Rreb1 |
T |
G |
13: 38,132,777 (GRCm39) |
S1651A |
probably damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,019,238 (GRCm39) |
D100G |
probably damaging |
Het |
| Samd4 |
C |
T |
14: 47,301,703 (GRCm39) |
R147C |
probably damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,025,299 (GRCm39) |
|
probably benign |
Het |
| Ska1 |
T |
C |
18: 74,330,111 (GRCm39) |
I210V |
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,062,543 (GRCm39) |
I237V |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,336 (GRCm39) |
S231T |
probably benign |
Het |
| Slc7a4 |
T |
A |
16: 17,393,797 (GRCm39) |
M66L |
probably damaging |
Het |
| Snapc1 |
A |
G |
12: 74,030,642 (GRCm39) |
T381A |
possibly damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,575,351 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
C |
T |
10: 23,817,401 (GRCm39) |
L314F |
probably benign |
Het |
| Tmem74b |
A |
G |
2: 151,548,561 (GRCm39) |
D96G |
probably damaging |
Het |
| Tnfrsf17 |
T |
C |
16: 11,131,833 (GRCm39) |
F6S |
probably benign |
Het |
| Tpp2 |
G |
T |
1: 43,993,870 (GRCm39) |
G252W |
probably damaging |
Het |
| Trf |
A |
G |
9: 103,100,807 (GRCm39) |
F209L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,728,935 (GRCm39) |
|
probably benign |
Het |
| Uhmk1 |
A |
T |
1: 170,034,774 (GRCm39) |
H311Q |
probably damaging |
Het |
| Unc13c |
G |
T |
9: 73,840,108 (GRCm39) |
Q248K |
probably damaging |
Het |
| Uqcrc2 |
A |
G |
7: 120,250,144 (GRCm39) |
Y253C |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,697,390 (GRCm39) |
F101L |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,070 (GRCm39) |
N381S |
probably benign |
Het |
| Zfp879 |
T |
A |
11: 50,724,024 (GRCm39) |
Y271F |
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 |
|
|
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'- CAGCTAACAAAGAACTTGCCATTG -3'
(R):5'- AGACTTGTAACTCCCATGTCCC -3'
Sequencing Primer
(F):5'- CTAACAAAGAACTTGCCATTGAAAGG -3'
(R):5'- GCTTTGTTGCTTACACAAACAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation