Incidental Mutation 'IGL01902:4931406B18Rik'
| ID |
179560 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4931406B18Rik
|
| Ensembl Gene |
ENSMUSG00000013353 |
| Gene Name |
RIKEN cDNA 4931406B18 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL01902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43141468-43155364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43147267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 228
(S228P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013497]
[ENSMUST00000163474]
[ENSMUST00000163619]
[ENSMUST00000168213]
[ENSMUST00000168883]
[ENSMUST00000171174]
[ENSMUST00000191516]
|
| AlphaFold |
A2RSL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013497
AA Change: S322P
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000013497
Gene: ENSMUSG00000013353
AA Change: S322P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PDB:2ZG3|A
|
24 |
185 |
9e-7 |
PDB |
|
Blast:IG_like
|
119 |
185 |
3e-19 |
BLAST |
|
low complexity region
|
186 |
205 |
N/A |
INTRINSIC |
|
SCOP:d1iray3
|
219 |
297 |
6e-3 |
SMART |
|
transmembrane domain
|
311 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163474
AA Change: S228P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126619
Gene: ENSMUSG00000013353
AA Change: S228P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
23 |
111 |
3e-12 |
BLAST |
|
SCOP:d1he7a_
|
111 |
203 |
1e-3 |
SMART |
|
Blast:IG_like
|
125 |
194 |
1e-5 |
BLAST |
|
transmembrane domain
|
217 |
239 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163619
|
| SMART Domains |
Protein: ENSMUSP00000131071
Gene: ENSMUSG00000013353
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
PDB:2ZG3|A
|
17 |
88 |
1e-5 |
PDB |
|
Blast:IG_like
|
22 |
88 |
2e-21 |
BLAST |
|
low complexity region
|
89 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168213
|
| SMART Domains |
Protein: ENSMUSP00000129928
Gene: ENSMUSG00000013353
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
23 |
119 |
2e-13 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168636
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171174
AA Change: S322P
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000129888
Gene: ENSMUSG00000013353
AA Change: S322P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Ig_2
|
113 |
216 |
5.6e-3 |
PFAM |
|
Pfam:Ig_2
|
200 |
297 |
7.7e-3 |
PFAM |
|
transmembrane domain
|
311 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191516
AA Change: S322P
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139468
Gene: ENSMUSG00000013353
AA Change: S322P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Ig_2
|
113 |
216 |
5.6e-3 |
PFAM |
|
Pfam:Ig_2
|
200 |
297 |
7.7e-3 |
PFAM |
|
transmembrane domain
|
311 |
333 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
T |
2: 26,977,264 (GRCm39) |
I242F |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,789,933 (GRCm39) |
L284P |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,309,181 (GRCm39) |
I138T |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,731 (GRCm39) |
L2704S |
probably damaging |
Het |
| Col7a1 |
C |
A |
9: 108,806,895 (GRCm39) |
P2442T |
unknown |
Het |
| Cpne6 |
A |
T |
14: 55,750,207 (GRCm39) |
T113S |
possibly damaging |
Het |
| Crnkl1 |
T |
C |
2: 145,766,632 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
T |
A |
19: 39,637,470 (GRCm39) |
D2V |
probably damaging |
Het |
| Frzb |
T |
A |
2: 80,243,711 (GRCm39) |
S323C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Ins2 |
C |
T |
7: 142,233,179 (GRCm39) |
C31Y |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,948,179 (GRCm39) |
N234Y |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,698,720 (GRCm39) |
F73L |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,395,919 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
A |
G |
12: 82,025,868 (GRCm39) |
T1538A |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,940,732 (GRCm39) |
V47D |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,096,002 (GRCm39) |
E502G |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,156,934 (GRCm39) |
V1886M |
probably damaging |
Het |
| Rapgef3 |
T |
A |
15: 97,648,181 (GRCm39) |
H676L |
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,829,422 (GRCm39) |
N607Y |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,237,132 (GRCm39) |
T233I |
possibly damaging |
Het |
| Snx13 |
A |
T |
12: 35,183,306 (GRCm39) |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 79,916,776 (GRCm39) |
C510S |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,795,756 (GRCm39) |
M242K |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,103,548 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in 4931406B18Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:4931406B18Rik
|
APN |
7 |
43,153,599 (GRCm39) |
splice site |
probably benign |
|
|
IGL02616:4931406B18Rik
|
APN |
7 |
43,150,437 (GRCm39) |
splice site |
probably null |
|
|
IGL02677:4931406B18Rik
|
APN |
7 |
43,150,519 (GRCm39) |
nonsense |
probably null |
|
|
IGL03030:4931406B18Rik
|
APN |
7 |
43,145,057 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0007:4931406B18Rik
|
UTSW |
7 |
43,147,466 (GRCm39) |
splice site |
probably benign |
|
|
R0788:4931406B18Rik
|
UTSW |
7 |
43,148,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1544:4931406B18Rik
|
UTSW |
7 |
43,147,543 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2995:4931406B18Rik
|
UTSW |
7 |
43,148,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:4931406B18Rik
|
UTSW |
7 |
43,150,565 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5595:4931406B18Rik
|
UTSW |
7 |
43,147,296 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6288:4931406B18Rik
|
UTSW |
7 |
43,147,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6389:4931406B18Rik
|
UTSW |
7 |
43,147,254 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6651:4931406B18Rik
|
UTSW |
7 |
43,147,496 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6912:4931406B18Rik
|
UTSW |
7 |
43,150,571 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7254:4931406B18Rik
|
UTSW |
7 |
43,147,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7615:4931406B18Rik
|
UTSW |
7 |
43,147,273 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8167:4931406B18Rik
|
UTSW |
7 |
43,147,288 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9052:4931406B18Rik
|
UTSW |
7 |
43,147,631 (GRCm39) |
nonsense |
probably null |
|
|
R9109:4931406B18Rik
|
UTSW |
7 |
43,148,702 (GRCm39) |
missense |
|
|
|
R9182:4931406B18Rik
|
UTSW |
7 |
43,153,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9201:4931406B18Rik
|
UTSW |
7 |
43,150,709 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9787:4931406B18Rik
|
UTSW |
7 |
43,150,695 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Posted On |
2014-05-07 |
Incidental Mutation