Incidental Mutation 'R0837:Rab40c'
| ID |
78017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab40c
|
| Ensembl Gene |
ENSMUSG00000025730 |
| Gene Name |
Rab40C, member RAS oncogene family |
| Synonyms |
RAR3 |
| MMRRC Submission |
039016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R0837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25882114-25919727 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25884693 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 151
(T151I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026826]
[ENSMUST00000095487]
[ENSMUST00000163356]
[ENSMUST00000164738]
[ENSMUST00000164982]
[ENSMUST00000166146]
[ENSMUST00000167018]
[ENSMUST00000167626]
[ENSMUST00000176696]
[ENSMUST00000179998]
|
| AlphaFold |
Q8VHQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026826
AA Change: T151I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026826
Gene: ENSMUSG00000025730
AA Change: T151I
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
15 |
177 |
9.2e-77 |
SMART |
|
SOCS
|
183 |
226 |
1.6e-18 |
SMART |
|
SOCS_box
|
189 |
225 |
7.2e-10 |
SMART |
|
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095487
|
| SMART Domains |
Protein: ENSMUSP00000093141
Gene: ENSMUSG00000071192
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
WAP
|
32 |
82 |
4.04e-3 |
SMART |
|
KAZAL
|
119 |
161 |
1.96e-2 |
SMART |
|
IGc2
|
202 |
274 |
2.54e-14 |
SMART |
|
KU
|
301 |
356 |
4.2e-3 |
SMART |
|
KU
|
361 |
414 |
1.82e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163356
|
| SMART Domains |
Protein: ENSMUSP00000130209
Gene: ENSMUSG00000025731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF938
|
1 |
172 |
1.6e-74 |
PFAM |
|
Pfam:Methyltransf_25
|
31 |
133 |
9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164738
|
| SMART Domains |
Protein: ENSMUSP00000130093
Gene: ENSMUSG00000025730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
5 |
110 |
5.2e-7 |
PFAM |
|
Pfam:Miro
|
16 |
111 |
4.2e-12 |
PFAM |
|
Pfam:Ras
|
16 |
111 |
2.6e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164982
AA Change: T132I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127868
Gene: ENSMUSG00000025730
AA Change: T132I
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
15 |
158 |
5.56e-54 |
SMART |
|
SOCS
|
164 |
207 |
2.56e-16 |
SMART |
|
SOCS_box
|
170 |
206 |
9.29e-6 |
SMART |
|
low complexity region
|
219 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166146
|
| SMART Domains |
Protein: ENSMUSP00000132355
Gene: ENSMUSG00000025730
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d3raba_
|
10 |
43 |
3e-9 |
SMART |
|
Blast:RAB
|
15 |
49 |
1e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166619
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167018
AA Change: T151I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131055
Gene: ENSMUSG00000025730
AA Change: T151I
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
15 |
177 |
1.88e-74 |
SMART |
|
SOCS
|
183 |
226 |
2.56e-16 |
SMART |
|
SOCS_box
|
189 |
225 |
9.29e-6 |
SMART |
|
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167626
AA Change: T151I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127546
Gene: ENSMUSG00000025730
AA Change: T151I
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
15 |
177 |
9.2e-77 |
SMART |
|
SOCS
|
183 |
226 |
1.6e-18 |
SMART |
|
SOCS_box
|
189 |
225 |
7.2e-10 |
SMART |
|
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172168
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176696
|
| SMART Domains |
Protein: ENSMUSP00000135083
Gene: ENSMUSG00000071192
| Domain | Start | End | E-Value | Type |
|---|
|
WAP
|
2 |
48 |
8.8e-2 |
SMART |
|
KAZAL
|
85 |
127 |
1.96e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179998
AA Change: T151I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136612
Gene: ENSMUSG00000025730
AA Change: T151I
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
15 |
177 |
9.4e-77 |
SMART |
|
SOCS
|
183 |
226 |
1.7e-18 |
SMART |
|
SOCS_box
|
189 |
225 |
7.3e-10 |
SMART |
|
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Meta Mutation Damage Score |
0.3303 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
C |
14: 60,095,926 (GRCm38) |
|
probably benign |
Het |
| 4930579C12Rik |
A |
G |
9: 89,168,207 (GRCm38) |
|
noncoding transcript |
Het |
| Adam34 |
T |
A |
8: 43,651,500 (GRCm38) |
K369N |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 109,851,065 (GRCm38) |
W481R |
probably damaging |
Het |
| Bicdl1 |
G |
A |
5: 115,731,292 (GRCm38) |
P26S |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,630,270 (GRCm38) |
C1224* |
probably null |
Het |
| Cpsf2 |
C |
T |
12: 101,997,242 (GRCm38) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,853,641 (GRCm38) |
R210W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,989,258 (GRCm38) |
V1048I |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,077,979 (GRCm38) |
A2908S |
probably benign |
Het |
| Elane |
A |
G |
10: 79,887,108 (GRCm38) |
D116G |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,507,816 (GRCm38) |
R153C |
probably damaging |
Het |
| Gucy2c |
G |
A |
6: 136,722,420 (GRCm38) |
P617L |
probably damaging |
Het |
| Hist2h2ab |
G |
A |
3: 96,220,123 (GRCm38) |
A70T |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,746,861 (GRCm38) |
I106L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,096,829 (GRCm38) |
N931D |
possibly damaging |
Het |
| Mthfs |
A |
G |
9: 89,215,390 (GRCm38) |
E100G |
probably damaging |
Het |
| Mto1 |
A |
T |
9: 78,473,790 (GRCm38) |
I639F |
probably damaging |
Het |
| Myo15 |
A |
G |
11: 60,487,251 (GRCm38) |
E177G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,230,743 (GRCm38) |
M282L |
probably benign |
Het |
| Olfr433 |
A |
G |
1: 174,042,487 (GRCm38) |
D179G |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,957,699 (GRCm38) |
|
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,714,338 (GRCm38) |
M64L |
probably benign |
Het |
| Prnp |
A |
T |
2: 131,936,524 (GRCm38) |
N32I |
probably damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,149,111 (GRCm38) |
V406I |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,234,271 (GRCm38) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,524,988 (GRCm38) |
V10A |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,880,692 (GRCm38) |
N70S |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,859,042 (GRCm38) |
C483* |
probably null |
Het |
| Sema4a |
T |
A |
3: 88,453,098 (GRCm38) |
Q58L |
possibly damaging |
Het |
| Slf1 |
T |
C |
13: 77,100,948 (GRCm38) |
|
probably null |
Het |
| Sycp1 |
G |
T |
3: 102,915,245 (GRCm38) |
N364K |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,896,275 (GRCm38) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,450,707 (GRCm38) |
T537A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,703,597 (GRCm38) |
I573T |
possibly damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,411,773 (GRCm38) |
T420I |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,789,545 (GRCm38) |
|
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,648,944 (GRCm38) |
C2367Y |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,703,502 (GRCm38) |
G135C |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,793,927 (GRCm38) |
Y327C |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,488,027 (GRCm38) |
H407L |
probably damaging |
Het |
| Zfp804a |
A |
C |
2: 82,259,162 (GRCm38) |
T1112P |
probably damaging |
Het |
| Zfr2 |
A |
G |
10: 81,245,408 (GRCm38) |
K431E |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 725,850 (GRCm38) |
Y638* |
probably null |
Het |
|
| Other mutations in Rab40c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Rab40c
|
APN |
17 |
25,885,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01793:Rab40c
|
APN |
17 |
25,884,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01936:Rab40c
|
APN |
17 |
25,884,670 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0089:Rab40c
|
UTSW |
17 |
25,885,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0456:Rab40c
|
UTSW |
17 |
25,884,657 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1547:Rab40c
|
UTSW |
17 |
25,883,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5488:Rab40c
|
UTSW |
17 |
25,890,669 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5955:Rab40c
|
UTSW |
17 |
25,884,657 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7047:Rab40c
|
UTSW |
17 |
25,919,484 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8923:Rab40c
|
UTSW |
17 |
25,883,690 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8951:Rab40c
|
UTSW |
17 |
25,919,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Rab40c
|
UTSW |
17 |
25,890,708 (GRCm38) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTGAGTTGCACATCCTGCC -3'
(R):5'- GTGCCTCTGCTAAGTTCTGAACCC -3'
Sequencing Primer
(F):5'- TAGGTCTGAGCAGGCAGTC -3'
(R):5'- GCTAAGTTCTGAACCCCCTATC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation