Incidental Mutation 'R4245:Rab3il1'
| ID |
320401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab3il1
|
| Ensembl Gene |
ENSMUSG00000024663 |
| Gene Name |
RAB3A interacting protein (rabin3)-like 1 |
| Synonyms |
1200014K04Rik, Rab3ail1 |
| MMRRC Submission |
041061-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
9979033-10015744 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10007518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 222
(D222V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113161]
[ENSMUST00000117641]
[ENSMUST00000121418]
[ENSMUST00000131407]
[ENSMUST00000137637]
[ENSMUST00000144788]
[ENSMUST00000149967]
|
| AlphaFold |
Q8VDV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113161
AA Change: D222V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108786
Gene: ENSMUSG00000024663
AA Change: D222V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec2p
|
90 |
173 |
2e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117641
AA Change: D149V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113551
Gene: ENSMUSG00000024663
AA Change: D149V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec2p
|
89 |
158 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121418
AA Change: D153V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663
AA Change: D153V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec2p
|
20 |
129 |
4.3e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131407
|
| SMART Domains |
Protein: ENSMUSP00000115976
Gene: ENSMUSG00000024663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec2p
|
20 |
86 |
7.6e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137637
|
| SMART Domains |
Protein: ENSMUSP00000120366
Gene: ENSMUSG00000024663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec2p
|
20 |
58 |
5.9e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144788
AA Change: D222V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663
AA Change: D222V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec2p
|
89 |
198 |
4.4e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149967
|
| SMART Domains |
Protein: ENSMUSP00000120401
Gene: ENSMUSG00000024663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec2p
|
20 |
51 |
3.2e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.8851 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
| Acacb |
A |
T |
5: 114,368,845 (GRCm39) |
T1688S |
probably damaging |
Het |
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| C8a |
A |
G |
4: 104,733,543 (GRCm39) |
V4A |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,473,045 (GRCm39) |
D158G |
probably damaging |
Het |
| Ccdc184 |
T |
A |
15: 98,066,750 (GRCm39) |
|
probably null |
Het |
| Cdc23 |
T |
C |
18: 34,770,100 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,219,335 (GRCm39) |
N51S |
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Eepd1 |
T |
C |
9: 25,505,920 (GRCm39) |
I460T |
probably benign |
Het |
| Fen1 |
T |
A |
19: 10,177,731 (GRCm39) |
I238F |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm5493 |
A |
G |
17: 22,966,199 (GRCm39) |
E28G |
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,440,272 (GRCm39) |
Q577K |
probably damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,348,047 (GRCm39) |
S564P |
probably damaging |
Het |
| Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
| Ndufs6 |
A |
T |
13: 73,468,512 (GRCm39) |
D62E |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,708,604 (GRCm39) |
Y257H |
probably damaging |
Het |
| Or7e178 |
T |
C |
9: 20,225,629 (GRCm39) |
I196V |
possibly damaging |
Het |
| Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptk2 |
C |
T |
15: 73,103,825 (GRCm39) |
G749D |
probably benign |
Het |
| Radil |
T |
C |
5: 142,529,546 (GRCm39) |
D50G |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
| Sf3a1 |
C |
T |
11: 4,117,774 (GRCm39) |
R179C |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,721,161 (GRCm39) |
N1340D |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,928,685 (GRCm39) |
E309G |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,568,318 (GRCm39) |
V1335A |
possibly damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
| Vill |
T |
A |
9: 118,900,359 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,624 (GRCm39) |
D341G |
possibly damaging |
Het |
| Wdr59 |
T |
C |
8: 112,216,996 (GRCm39) |
N272D |
possibly damaging |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zfp985 |
A |
G |
4: 147,667,396 (GRCm39) |
K88R |
probably damaging |
Het |
| Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rab3il1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4737:Rab3il1
|
UTSW |
19 |
10,011,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Rab3il1
|
UTSW |
19 |
10,005,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Rab3il1
|
UTSW |
19 |
10,005,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Rab3il1
|
UTSW |
19 |
10,004,752 (GRCm39) |
small insertion |
probably benign |
|
|
R3752:Rab3il1
|
UTSW |
19 |
10,007,841 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3765:Rab3il1
|
UTSW |
19 |
10,005,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Rab3il1
|
UTSW |
19 |
10,003,988 (GRCm39) |
missense |
probably benign |
|
|
R4803:Rab3il1
|
UTSW |
19 |
10,004,808 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4820:Rab3il1
|
UTSW |
19 |
10,004,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7744:Rab3il1
|
UTSW |
19 |
10,005,641 (GRCm39) |
splice site |
probably null |
|
|
R8047:Rab3il1
|
UTSW |
19 |
10,011,166 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8154:Rab3il1
|
UTSW |
19 |
10,004,936 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8812:Rab3il1
|
UTSW |
19 |
10,004,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGACAGGACCTCTTCTTTGC -3'
(R):5'- CTGAGAGCTGTGACAAATCAGG -3'
Sequencing Primer
(F):5'- AGGACCTCTTCTTTGCCTGGAC -3'
(R):5'- CTGGGTGACAGGGAACTACTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation