Incidental Mutation 'R5197:Rab3gap1'
| ID |
400305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab3gap1
|
| Ensembl Gene |
ENSMUSG00000036104 |
| Gene Name |
RAB3 GTPase activating protein subunit 1 |
| Synonyms |
1700003B17Rik, 4732493F09Rik, p130 |
| MMRRC Submission |
042773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R5197 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
127796510-127871605 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127816931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 63
(D63E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037649]
[ENSMUST00000212506]
|
| AlphaFold |
Q80UJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037649
AA Change: D63E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042070
Gene: ENSMUSG00000036104
AA Change: D63E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
587 |
N/A |
INTRINSIC |
|
Pfam:Rab3-GTPase_cat
|
612 |
769 |
2.9e-67 |
PFAM |
|
low complexity region
|
856 |
868 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142662
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212506
AA Change: D63E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display abnormal synaptic transmission but have normal gross brain morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
T |
C |
9: 54,529,866 (GRCm39) |
E247G |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 50,118,096 (GRCm39) |
F1151L |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aldh4a1 |
A |
C |
4: 139,375,612 (GRCm39) |
|
probably benign |
Het |
| Anln |
A |
T |
9: 22,264,077 (GRCm39) |
|
probably null |
Het |
| Aste1 |
T |
C |
9: 105,282,253 (GRCm39) |
S74P |
probably damaging |
Het |
| Atp6v0e2 |
G |
A |
6: 48,517,051 (GRCm39) |
R77H |
probably benign |
Het |
| Brpf1 |
A |
G |
6: 113,296,902 (GRCm39) |
D962G |
possibly damaging |
Het |
| Btbd2 |
T |
C |
10: 80,482,253 (GRCm39) |
D249G |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,955,989 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
A |
G |
19: 47,885,811 (GRCm39) |
L268P |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,255,413 (GRCm39) |
V540A |
probably benign |
Het |
| Col22a1 |
C |
T |
15: 71,881,255 (GRCm39) |
G32D |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,432,241 (GRCm39) |
P804Q |
probably benign |
Het |
| Cyp2d41-ps |
A |
G |
15: 82,662,981 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp39a1 |
T |
G |
17: 44,057,429 (GRCm39) |
L423V |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,748,607 (GRCm39) |
V484G |
probably benign |
Het |
| Eps8 |
C |
A |
6: 137,467,288 (GRCm39) |
Q656H |
probably damaging |
Het |
| Eps8 |
T |
C |
6: 137,467,289 (GRCm39) |
Q656R |
possibly damaging |
Het |
| Fshb |
T |
C |
2: 106,887,854 (GRCm39) |
D55G |
possibly damaging |
Het |
| Garin1a |
G |
T |
6: 29,281,221 (GRCm39) |
|
probably benign |
Het |
| H3c4 |
T |
A |
13: 23,760,304 (GRCm39) |
L110Q |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,355,786 (GRCm39) |
Q2346K |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,550,833 (GRCm39) |
D328E |
probably benign |
Het |
| Kif21b |
A |
T |
1: 136,072,363 (GRCm39) |
K23M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,705,673 (GRCm39) |
E470V |
probably benign |
Het |
| Lrrc4 |
G |
T |
6: 28,830,142 (GRCm39) |
T68K |
probably damaging |
Het |
| Lrrc63 |
T |
A |
14: 75,322,322 (GRCm39) |
H594L |
possibly damaging |
Het |
| Mfsd14a |
A |
T |
3: 116,442,150 (GRCm39) |
|
probably benign |
Het |
| Mob2 |
T |
C |
7: 141,563,274 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
T |
A |
1: 126,150,410 (GRCm39) |
H105L |
possibly damaging |
Het |
| Ngef |
C |
A |
1: 87,437,090 (GRCm39) |
G133* |
probably null |
Het |
| Or14j2 |
T |
G |
17: 37,886,111 (GRCm39) |
I68L |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
T |
A |
14: 14,328,462 (GRCm38) |
M117K |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,207 (GRCm39) |
V47I |
probably benign |
Het |
| Or5b120 |
G |
T |
19: 13,479,748 (GRCm39) |
V14F |
possibly damaging |
Het |
| Or5g23 |
T |
C |
2: 85,438,791 (GRCm39) |
I154M |
probably benign |
Het |
| Pard3 |
A |
G |
8: 127,800,040 (GRCm39) |
|
probably null |
Het |
| Pgm2 |
C |
T |
5: 64,263,175 (GRCm39) |
A274V |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,156,177 (GRCm39) |
S1144R |
probably damaging |
Het |
| Pramel23 |
A |
C |
4: 143,424,632 (GRCm39) |
C270W |
possibly damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,227 (GRCm39) |
P590L |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,474,374 (GRCm39) |
|
probably null |
Het |
| Rag2 |
C |
A |
2: 101,461,085 (GRCm39) |
T465K |
probably damaging |
Het |
| Rnase6 |
A |
G |
14: 51,367,670 (GRCm39) |
M21V |
unknown |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,653,316 (GRCm39) |
|
probably null |
Het |
| Sash1 |
T |
G |
10: 8,615,989 (GRCm39) |
R624S |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,460 (GRCm39) |
I355V |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,036,358 (GRCm39) |
S1097P |
probably benign |
Het |
| Sugct |
C |
T |
13: 17,497,861 (GRCm39) |
A271T |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,034,350 (GRCm39) |
V1065A |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,338,389 (GRCm39) |
Y307F |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,642,126 (GRCm39) |
N216S |
probably benign |
Het |
| Ttk |
T |
C |
9: 83,721,394 (GRCm39) |
V93A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,195,408 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,871,937 (GRCm39) |
K364E |
probably benign |
Het |
| Xrcc2 |
G |
T |
5: 25,897,656 (GRCm39) |
H98N |
probably benign |
Het |
| Zdhhc11 |
A |
G |
13: 74,113,688 (GRCm39) |
I77V |
probably benign |
Het |
| Zfp54 |
C |
T |
17: 21,654,442 (GRCm39) |
S312L |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Rab3gap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Rab3gap1
|
APN |
1 |
127,858,124 (GRCm39) |
splice site |
probably benign |
|
|
IGL01467:Rab3gap1
|
APN |
1 |
127,858,121 (GRCm39) |
splice site |
probably null |
|
|
IGL01554:Rab3gap1
|
APN |
1 |
127,855,745 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01773:Rab3gap1
|
APN |
1 |
127,845,958 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01866:Rab3gap1
|
APN |
1 |
127,818,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02078:Rab3gap1
|
APN |
1 |
127,796,652 (GRCm39) |
splice site |
probably benign |
|
|
IGL02251:Rab3gap1
|
APN |
1 |
127,865,237 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02268:Rab3gap1
|
APN |
1 |
127,796,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02274:Rab3gap1
|
APN |
1 |
127,866,817 (GRCm39) |
missense |
probably benign |
|
|
IGL02372:Rab3gap1
|
APN |
1 |
127,847,298 (GRCm39) |
splice site |
probably benign |
|
|
IGL02399:Rab3gap1
|
APN |
1 |
127,855,840 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02629:Rab3gap1
|
APN |
1 |
127,837,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02700:Rab3gap1
|
APN |
1 |
127,866,342 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02748:Rab3gap1
|
APN |
1 |
127,865,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
little_bighorn
|
UTSW |
1 |
127,818,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03048:Rab3gap1
|
UTSW |
1 |
127,865,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Rab3gap1
|
UTSW |
1 |
127,865,922 (GRCm39) |
splice site |
probably benign |
|
|
R1382:Rab3gap1
|
UTSW |
1 |
127,870,333 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1729:Rab3gap1
|
UTSW |
1 |
127,870,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Rab3gap1
|
UTSW |
1 |
127,862,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1990:Rab3gap1
|
UTSW |
1 |
127,870,166 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2001:Rab3gap1
|
UTSW |
1 |
127,831,456 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2041:Rab3gap1
|
UTSW |
1 |
127,865,727 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3955:Rab3gap1
|
UTSW |
1 |
127,862,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Rab3gap1
|
UTSW |
1 |
127,853,207 (GRCm39) |
intron |
probably benign |
|
|
R4243:Rab3gap1
|
UTSW |
1 |
127,865,304 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4244:Rab3gap1
|
UTSW |
1 |
127,865,304 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4354:Rab3gap1
|
UTSW |
1 |
127,843,378 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4592:Rab3gap1
|
UTSW |
1 |
127,852,996 (GRCm39) |
intron |
probably benign |
|
|
R4622:Rab3gap1
|
UTSW |
1 |
127,870,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4738:Rab3gap1
|
UTSW |
1 |
127,862,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4917:Rab3gap1
|
UTSW |
1 |
127,816,914 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4918:Rab3gap1
|
UTSW |
1 |
127,816,914 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5090:Rab3gap1
|
UTSW |
1 |
127,843,415 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5310:Rab3gap1
|
UTSW |
1 |
127,870,110 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5580:Rab3gap1
|
UTSW |
1 |
127,858,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6670:Rab3gap1
|
UTSW |
1 |
127,858,512 (GRCm39) |
missense |
probably benign |
|
|
R6825:Rab3gap1
|
UTSW |
1 |
127,858,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Rab3gap1
|
UTSW |
1 |
127,818,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7274:Rab3gap1
|
UTSW |
1 |
127,855,249 (GRCm39) |
missense |
probably benign |
|
|
R7380:Rab3gap1
|
UTSW |
1 |
127,865,727 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7583:Rab3gap1
|
UTSW |
1 |
127,858,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7654:Rab3gap1
|
UTSW |
1 |
127,837,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:Rab3gap1
|
UTSW |
1 |
127,837,655 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8392:Rab3gap1
|
UTSW |
1 |
127,866,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8864:Rab3gap1
|
UTSW |
1 |
127,837,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9190:Rab3gap1
|
UTSW |
1 |
127,858,495 (GRCm39) |
missense |
probably benign |
|
|
R9799:Rab3gap1
|
UTSW |
1 |
127,858,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACTCCAAATAGCCACTG -3'
(R):5'- GATGCAGTACTAGCACATAAGC -3'
Sequencing Primer
(F):5'- TGACTCCAAATAGCCACTGTGATAAG -3'
(R):5'- GGAGACTCTTGTACAAGATAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation