Incidental Mutation 'IGL00500:Rab40c'
| ID |
3893 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab40c
|
| Ensembl Gene |
ENSMUSG00000025730 |
| Gene Name |
Rab40C, member RAS oncogene family |
| Synonyms |
RAR3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
IGL00500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26101088-26138688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26104059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 111
(E111G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026826]
[ENSMUST00000095487]
[ENSMUST00000163356]
[ENSMUST00000164738]
[ENSMUST00000164982]
[ENSMUST00000166146]
[ENSMUST00000179998]
[ENSMUST00000167018]
[ENSMUST00000167626]
[ENSMUST00000176696]
|
| AlphaFold |
Q8VHQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026826
AA Change: E111G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026826
Gene: ENSMUSG00000025730
AA Change: E111G
| 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 damaging
Transcript: ENSMUST00000164738
AA Change: E111G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130093
Gene: ENSMUSG00000025730
AA Change: E111G
| 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: E111G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127868
Gene: ENSMUSG00000025730
AA Change: E111G
| 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: ENSMUST00000179998
AA Change: E111G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136612
Gene: ENSMUSG00000025730
AA Change: E111G
| 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 |
probably damaging
Transcript: ENSMUST00000167018
AA Change: E111G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131055
Gene: ENSMUSG00000025730
AA Change: E111G
| 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: E111G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127546
Gene: ENSMUSG00000025730
AA Change: E111G
| 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: ENSMUST00000180868
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,383,567 (GRCm39) |
E576G |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,243 (GRCm39) |
V684A |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,566,469 (GRCm39) |
W965R |
probably damaging |
Het |
| AI467606 |
G |
A |
7: 126,691,505 (GRCm39) |
V27I |
probably benign |
Het |
| Ankrd34b |
G |
A |
13: 92,575,295 (GRCm39) |
G176R |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,931,946 (GRCm39) |
Q114R |
probably benign |
Het |
| B4galt2 |
A |
T |
4: 117,734,378 (GRCm39) |
L257Q |
probably damaging |
Het |
| Chrna10 |
A |
T |
7: 101,761,615 (GRCm39) |
C325* |
probably null |
Het |
| Clip2 |
A |
G |
5: 134,529,011 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
C |
T |
1: 93,144,766 (GRCm39) |
Q1437* |
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,971,139 (GRCm39) |
V3059M |
probably damaging |
Het |
| Cst5 |
C |
A |
2: 149,247,501 (GRCm39) |
S72R |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,618 (GRCm39) |
D1077G |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,341,494 (GRCm39) |
T585A |
probably damaging |
Het |
| Fam210a |
G |
A |
18: 68,408,854 (GRCm39) |
T152I |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,159,436 (GRCm39) |
Q2214L |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,400,581 (GRCm39) |
|
probably null |
Het |
| Gcdh |
C |
T |
8: 85,615,146 (GRCm39) |
|
probably benign |
Het |
| Gm18856 |
T |
C |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
T |
A |
10: 77,400,558 (GRCm39) |
W724R |
probably damaging |
Het |
| Klhl2 |
T |
C |
8: 65,202,120 (GRCm39) |
T519A |
probably benign |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,814 (GRCm39) |
C119F |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,361,341 (GRCm39) |
K369N |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,312,342 (GRCm39) |
|
probably null |
Het |
| Plekhh3 |
T |
A |
11: 101,056,519 (GRCm39) |
|
probably null |
Het |
| Ppm1b |
A |
G |
17: 85,310,712 (GRCm39) |
S289G |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,550 (GRCm39) |
*313C |
probably null |
Het |
| Skint11 |
T |
A |
4: 114,051,906 (GRCm39) |
C85S |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,802,743 (GRCm39) |
E598K |
possibly damaging |
Het |
| Slfn8 |
T |
A |
11: 82,904,310 (GRCm39) |
D360V |
possibly damaging |
Het |
| Sspo |
C |
A |
6: 48,474,355 (GRCm39) |
C4925* |
probably null |
Het |
| Vps8 |
A |
G |
16: 21,261,084 (GRCm39) |
T75A |
possibly damaging |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,405 (GRCm39) |
T61S |
probably benign |
Het |
|
| Other mutations in Rab40c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01793:Rab40c
|
APN |
17 |
26,103,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01936:Rab40c
|
APN |
17 |
26,103,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0089:Rab40c
|
UTSW |
17 |
26,104,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Rab40c
|
UTSW |
17 |
26,103,631 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0837:Rab40c
|
UTSW |
17 |
26,103,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Rab40c
|
UTSW |
17 |
26,102,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5488:Rab40c
|
UTSW |
17 |
26,109,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5955:Rab40c
|
UTSW |
17 |
26,103,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7047:Rab40c
|
UTSW |
17 |
26,138,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8923:Rab40c
|
UTSW |
17 |
26,102,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8951:Rab40c
|
UTSW |
17 |
26,138,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Rab40c
|
UTSW |
17 |
26,109,682 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation