Incidental Mutation 'R6288:4931406B18Rik'
| ID |
509232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4931406B18Rik
|
| Ensembl Gene |
ENSMUSG00000013353 |
| Gene Name |
RIKEN cDNA 4931406B18 gene |
| Synonyms |
|
| MMRRC Submission |
044458-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43141468-43155364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43147549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 274
(E274V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013497]
[ENSMUST00000163474]
[ENSMUST00000163619]
[ENSMUST00000168213]
[ENSMUST00000168883]
[ENSMUST00000171174]
[ENSMUST00000191516]
|
| AlphaFold |
A2RSL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013497
AA Change: E274V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000013497
Gene: ENSMUSG00000013353
AA Change: E274V
| 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 |
possibly damaging
Transcript: ENSMUST00000163474
AA Change: E180V
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126619
Gene: ENSMUSG00000013353
AA Change: E180V
| 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 damaging
Transcript: ENSMUST00000171174
AA Change: E274V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129888
Gene: ENSMUSG00000013353
AA Change: E274V
| 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 damaging
Transcript: ENSMUST00000191516
AA Change: E274V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139468
Gene: ENSMUSG00000013353
AA Change: E274V
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
T |
11: 58,184,421 (GRCm39) |
D380Y |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,802,922 (GRCm39) |
L192P |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,208,434 (GRCm39) |
I624F |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,526,040 (GRCm39) |
K219E |
possibly damaging |
Het |
| Bean1 |
T |
A |
8: 104,937,622 (GRCm39) |
L33Q |
probably damaging |
Het |
| Cdhr17 |
T |
A |
5: 17,061,283 (GRCm39) |
C738S |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,766,718 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,945,462 (GRCm39) |
D884G |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,122,227 (GRCm39) |
R707G |
probably benign |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp2d9 |
C |
T |
15: 82,340,616 (GRCm39) |
H422Y |
probably damaging |
Het |
| Epha2 |
C |
T |
4: 141,044,344 (GRCm39) |
A382V |
probably benign |
Het |
| Fam151a |
A |
C |
4: 106,605,341 (GRCm39) |
T568P |
probably damaging |
Het |
| Fbln2 |
A |
T |
6: 91,210,263 (GRCm39) |
Y69F |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,092 (GRCm39) |
H1040L |
unknown |
Het |
| Gucy2g |
T |
C |
19: 55,215,945 (GRCm39) |
T476A |
probably benign |
Het |
| H3c7 |
A |
G |
13: 23,728,664 (GRCm39) |
T4A |
probably benign |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,519 (GRCm39) |
G75D |
probably benign |
Het |
| Inpp5b |
G |
A |
4: 124,679,020 (GRCm39) |
V476I |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,540,591 (GRCm39) |
L855Q |
probably damaging |
Het |
| Or52ab2 |
A |
G |
7: 102,970,286 (GRCm39) |
I223V |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,721,226 (GRCm39) |
F98L |
probably benign |
Het |
| Pcolce2 |
T |
A |
9: 95,563,646 (GRCm39) |
Y211N |
probably damaging |
Het |
| Phf21b |
A |
C |
15: 84,739,272 (GRCm39) |
|
probably benign |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,111 (GRCm39) |
E122G |
probably benign |
Het |
| Rimbp3 |
C |
T |
16: 17,030,772 (GRCm39) |
P1399S |
probably benign |
Het |
| Slc38a1 |
A |
G |
15: 96,484,759 (GRCm39) |
V267A |
probably benign |
Het |
| Sox11 |
A |
G |
12: 27,392,332 (GRCm39) |
F26L |
possibly damaging |
Het |
| Ssbp3 |
T |
A |
4: 106,903,277 (GRCm39) |
|
probably null |
Het |
| Trim12c |
C |
T |
7: 103,995,936 (GRCm39) |
V146I |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,748,802 (GRCm39) |
T1543K |
probably damaging |
Het |
| Zfp473 |
C |
A |
7: 44,382,958 (GRCm39) |
K457N |
probably damaging |
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 |
|
|
IGL01902:4931406B18Rik
|
APN |
7 |
43,147,267 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGAACATGGTCACCCTG -3'
(R):5'- ACCAGGCTGCTCAACTACTC -3'
Sequencing Primer
(F):5'- AACATGGTCACCCTGAGGCTTC -3'
(R):5'- CTGTTTGCTGAAGAGGACACTCAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation