Incidental Mutation 'R1924:Rabgap1'
ID |
213257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rabgap1
|
Ensembl Gene |
ENSMUSG00000035437 |
Gene Name |
RAB GTPase activating protein 1 |
Synonyms |
Gapcena |
MMRRC Submission |
039942-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.239)
|
Stock # |
R1924 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 37385771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000112920]
[ENSMUST00000133434]
[ENSMUST00000183690]
|
AlphaFold |
A2AWA9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061179
|
SMART Domains |
Protein: ENSMUSP00000061624 Gene: ENSMUSG00000035437
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
|
SMART Domains |
Protein: ENSMUSP00000068835 Gene: ENSMUSG00000035437
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
|
SMART Domains |
Protein: ENSMUSP00000108542 Gene: ENSMUSG00000035437
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 null
Transcript: ENSMUST00000112920
|
SMART Domains |
Protein: ENSMUSP00000108542 Gene: ENSMUSG00000035437
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 benign
Transcript: ENSMUST00000133434
|
SMART Domains |
Protein: ENSMUSP00000121963 Gene: ENSMUSG00000035437
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: 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
|
Meta Mutation Damage Score |
0.9500 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
Validation Efficiency |
94% (63/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
G |
A |
5: 114,368,781 (GRCm39) |
M1666I |
possibly damaging |
Het |
Adamts13 |
A |
T |
2: 26,874,153 (GRCm39) |
Q434L |
probably damaging |
Het |
Adgrg3 |
G |
A |
8: 95,762,562 (GRCm39) |
R204H |
probably benign |
Het |
Arhgef28 |
A |
C |
13: 98,073,324 (GRCm39) |
|
probably benign |
Het |
AU041133 |
T |
A |
10: 81,987,101 (GRCm39) |
C251* |
probably null |
Het |
Axin2 |
T |
A |
11: 108,833,794 (GRCm39) |
N580K |
probably benign |
Het |
C4b |
A |
G |
17: 34,948,631 (GRCm39) |
C1560R |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,334,880 (GRCm39) |
I809T |
possibly damaging |
Het |
Cacna1s |
C |
A |
1: 136,016,755 (GRCm39) |
|
probably null |
Het |
Cadps2 |
T |
C |
6: 23,688,857 (GRCm39) |
S151G |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,086 (GRCm39) |
|
probably null |
Het |
Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
Ccdc73 |
A |
G |
2: 104,822,637 (GRCm39) |
D862G |
probably damaging |
Het |
Cdk17 |
T |
C |
10: 93,061,979 (GRCm39) |
L237P |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,440,802 (GRCm39) |
I1120V |
possibly damaging |
Het |
Chad |
A |
C |
11: 94,456,384 (GRCm39) |
N154T |
possibly damaging |
Het |
Cog1 |
C |
T |
11: 113,547,038 (GRCm39) |
T544I |
probably benign |
Het |
Cracd |
A |
T |
5: 77,006,470 (GRCm39) |
T944S |
unknown |
Het |
Ctnna2 |
T |
C |
6: 76,931,830 (GRCm39) |
E590G |
possibly damaging |
Het |
Dapk2 |
T |
A |
9: 66,072,642 (GRCm39) |
M6K |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,421,487 (GRCm39) |
E311G |
possibly damaging |
Het |
Ddr2 |
T |
A |
1: 169,809,641 (GRCm39) |
T779S |
probably benign |
Het |
Dhtkd1 |
A |
G |
2: 5,916,744 (GRCm39) |
V644A |
probably damaging |
Het |
Dock2 |
A |
G |
11: 34,414,934 (GRCm39) |
V147A |
possibly damaging |
Het |
Ear10 |
A |
T |
14: 44,160,357 (GRCm39) |
*157K |
probably null |
Het |
Gm10801 |
T |
C |
2: 98,494,197 (GRCm39) |
I113T |
probably damaging |
Het |
Gmps |
T |
G |
3: 63,906,049 (GRCm39) |
C449G |
probably damaging |
Het |
Grin3a |
A |
G |
4: 49,844,988 (GRCm39) |
S32P |
possibly damaging |
Het |
Igkv1-115 |
A |
T |
6: 68,138,592 (GRCm39) |
D65V |
probably damaging |
Het |
Klk1b4 |
A |
G |
7: 43,859,105 (GRCm39) |
N41S |
probably benign |
Het |
Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
Lrrc8a |
T |
A |
2: 30,145,262 (GRCm39) |
D25E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,421,960 (GRCm39) |
R4426G |
possibly damaging |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Myo5a |
G |
T |
9: 75,023,489 (GRCm39) |
D17Y |
probably damaging |
Het |
Nat1 |
C |
G |
8: 67,944,076 (GRCm39) |
L154V |
probably benign |
Het |
Nek3 |
T |
A |
8: 22,647,047 (GRCm39) |
T163S |
probably damaging |
Het |
Or2w25 |
G |
T |
11: 59,503,949 (GRCm39) |
R53L |
possibly damaging |
Het |
Or5p80 |
A |
G |
7: 108,229,562 (GRCm39) |
D121G |
probably damaging |
Het |
Or6c204 |
A |
G |
10: 129,023,044 (GRCm39) |
I82T |
possibly damaging |
Het |
Or8d2b |
T |
A |
9: 38,789,147 (GRCm39) |
I225N |
probably damaging |
Het |
Or8g32 |
A |
T |
9: 39,305,163 (GRCm39) |
E22D |
possibly damaging |
Het |
Or9s13 |
T |
C |
1: 92,548,525 (GRCm39) |
L299P |
probably damaging |
Het |
Osr1 |
T |
G |
12: 9,629,268 (GRCm39) |
L47R |
probably damaging |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Pik3ap1 |
T |
A |
19: 41,291,053 (GRCm39) |
N493I |
possibly damaging |
Het |
Polr3e |
T |
A |
7: 120,539,820 (GRCm39) |
N522K |
probably damaging |
Het |
Rp1l1 |
C |
A |
14: 64,268,992 (GRCm39) |
A1526E |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,291,878 (GRCm39) |
I1623F |
probably damaging |
Het |
Serpinb9e |
A |
G |
13: 33,437,428 (GRCm39) |
T104A |
probably benign |
Het |
Sh3rf3 |
T |
C |
10: 58,939,989 (GRCm39) |
|
probably benign |
Het |
Slc30a3 |
A |
G |
5: 31,245,748 (GRCm39) |
Y213H |
probably damaging |
Het |
Sptbn4 |
C |
T |
7: 27,106,563 (GRCm39) |
R955H |
probably damaging |
Het |
Tfb1m |
A |
T |
17: 3,569,946 (GRCm39) |
Y307N |
probably damaging |
Het |
Tnrc6b |
G |
T |
15: 80,768,407 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,938,936 (GRCm39) |
Y501H |
probably damaging |
Het |
Zbtb17 |
A |
G |
4: 141,191,914 (GRCm39) |
H315R |
probably damaging |
Het |
Zeb2 |
A |
G |
2: 44,892,624 (GRCm39) |
Y142H |
probably damaging |
Het |
Zfr |
T |
C |
15: 12,160,715 (GRCm39) |
S763P |
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 |
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 |
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'- TGTGGATTCAAGAAACACCACTTG -3'
(R):5'- GGTGTGCATAACAACTTCAGTG -3'
Sequencing Primer
(F):5'- CTTGTTCTTGCATCCAATACAAAAC -3'
(R):5'- GTGCATAACAACTTCAGTGATTTTC -3'
|
Posted On |
2014-07-14 |