Incidental Mutation 'R7888:Rabgap1'
| ID |
609146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1
|
| Ensembl Gene |
ENSMUSG00000035437 |
| Gene Name |
RAB GTPase activating protein 1 |
| Synonyms |
Gapcena |
| MMRRC Submission |
045940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R7888 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 37427319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 633
(Y633*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000183690]
|
| AlphaFold |
A2AWA9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061179
AA Change: Y633*
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: Y633*
| 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: Y633*
|
| SMART Domains |
Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: Y633*
| 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: Y633*
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: Y633*
| 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 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 |
0.9702 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
G |
T |
14: 8,246,415 (GRCm38) |
Q459K |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,773 (GRCm39) |
Y792F |
probably damaging |
Het |
| Aoc3 |
C |
T |
11: 101,223,323 (GRCm39) |
H520Y |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,439,811 (GRCm39) |
F137S |
probably damaging |
Het |
| Blvrb |
A |
G |
7: 27,165,159 (GRCm39) |
T160A |
probably damaging |
Het |
| Brd2 |
G |
A |
17: 34,335,995 (GRCm39) |
R73W |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,943,036 (GRCm39) |
T306A |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,383,578 (GRCm39) |
V212M |
possibly damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,119,967 (GRCm39) |
E3G |
unknown |
Het |
| Cenpb |
T |
A |
2: 131,021,762 (GRCm39) |
E12V |
probably damaging |
Het |
| Cnot8 |
T |
C |
11: 58,002,137 (GRCm39) |
S57P |
probably benign |
Het |
| Cryba4 |
T |
C |
5: 112,398,918 (GRCm39) |
E42G |
probably benign |
Het |
| Fam72a |
T |
A |
1: 131,456,578 (GRCm39) |
I47N |
probably damaging |
Het |
| Gm27027 |
A |
C |
2: 93,787,880 (GRCm39) |
|
probably null |
Het |
| Itgb2 |
T |
C |
10: 77,400,478 (GRCm39) |
V697A |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,262,208 (GRCm39) |
N336D |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,233,248 (GRCm39) |
T760A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,392,307 (GRCm39) |
E1039D |
probably benign |
Het |
| Meaf6 |
T |
G |
4: 125,003,213 (GRCm39) |
|
probably null |
Het |
| Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
| Mtss1 |
A |
T |
15: 58,844,373 (GRCm39) |
M82K |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,203,947 (GRCm39) |
S1063P |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,812,137 (GRCm39) |
Y406* |
probably null |
Het |
| Nsun6 |
T |
A |
2: 15,001,355 (GRCm39) |
E400D |
probably benign |
Het |
| Or10al5 |
A |
T |
17: 38,062,888 (GRCm39) |
N48Y |
probably damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,354 (GRCm39) |
D70G |
probably damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,334 (GRCm39) |
M37L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,266 (GRCm39) |
Y61H |
probably damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,120,006 (GRCm39) |
Y253* |
probably null |
Het |
| Or5au1 |
A |
G |
14: 52,273,347 (GRCm39) |
S74P |
probably damaging |
Het |
| Or8j3b |
C |
A |
2: 86,205,270 (GRCm39) |
C162F |
probably benign |
Het |
| Pfdn5 |
T |
A |
15: 102,237,024 (GRCm39) |
V92E |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,842,470 (GRCm39) |
V801A |
|
Het |
| Psme2b |
T |
A |
11: 48,836,402 (GRCm39) |
T182S |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,860,431 (GRCm39) |
A592V |
probably damaging |
Het |
| Rnf39 |
A |
T |
17: 37,258,133 (GRCm39) |
T222S |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,342,878 (GRCm39) |
N277S |
probably damaging |
Het |
| Slc16a13 |
T |
G |
11: 70,109,806 (GRCm39) |
I232L |
possibly damaging |
Het |
| Slco2b1 |
T |
G |
7: 99,338,050 (GRCm39) |
R111S |
unknown |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Tmc3 |
T |
C |
7: 83,249,217 (GRCm39) |
W269R |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,313,943 (GRCm39) |
E346G |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,184,725 (GRCm39) |
N666S |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,812,920 (GRCm39) |
D1618N |
|
Het |
| Zfp773 |
C |
A |
7: 7,135,978 (GRCm39) |
C206F |
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 |
|
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 |
|
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'- GCCTCTTACCATGAAGACATTGG -3'
(R):5'- TGGTCCGTACAAGACACAAG -3'
Sequencing Primer
(F):5'- CTTACCATGAAGACATTGGGATTGG -3'
(R):5'- AGCTACTCACGTGGAGAA -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation