Incidental Mutation 'R0007:4931406B18Rik'
| ID |
19154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4931406B18Rik
|
| Ensembl Gene |
ENSMUSG00000013353 |
| Gene Name |
RIKEN cDNA 4931406B18 gene |
| Synonyms |
|
| MMRRC Submission |
038302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R0007 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43141468-43155364 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 43147466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000013497
|
| SMART Domains |
Protein: ENSMUSP00000013497
Gene: ENSMUSG00000013353
| 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 benign
Transcript: ENSMUST00000163474
|
| SMART Domains |
Protein: ENSMUSP00000126619
Gene: ENSMUSG00000013353
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129888
Gene: ENSMUSG00000013353
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139468
Gene: ENSMUSG00000013353
| 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 |
- 1x: 75.9%
- 3x: 62.7%
- 10x: 33.8%
- 20x: 16.7%
|
| Validation Efficiency |
95% (54/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh8 |
A |
T |
8: 99,957,088 (GRCm39) |
L205* |
probably null |
Het |
| Cntnap2 |
A |
C |
6: 45,969,007 (GRCm39) |
N250H |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,471 (GRCm39) |
V973A |
unknown |
Het |
| Denr |
T |
A |
5: 124,062,877 (GRCm39) |
Y127N |
probably damaging |
Het |
| Diaph3 |
C |
A |
14: 87,104,056 (GRCm39) |
R776L |
possibly damaging |
Het |
| F2 |
T |
C |
2: 91,460,952 (GRCm39) |
E260G |
probably benign |
Het |
| Il1rl1 |
C |
T |
1: 40,485,331 (GRCm39) |
T261I |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,630,938 (GRCm39) |
|
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,201,006 (GRCm39) |
I209N |
probably damaging |
Het |
| Myo1b |
T |
A |
1: 51,815,413 (GRCm39) |
R650S |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,840,574 (GRCm38) |
H153Q |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,250,515 (GRCm39) |
|
probably benign |
Het |
| Pcnx4 |
T |
A |
12: 72,602,353 (GRCm39) |
F281I |
possibly damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,632,225 (GRCm39) |
G314C |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,437,794 (GRCm39) |
|
probably benign |
Het |
| Polr2b |
T |
C |
5: 77,488,284 (GRCm39) |
V828A |
probably benign |
Het |
| Slc44a4 |
G |
A |
17: 35,140,230 (GRCm39) |
A60T |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,234,946 (GRCm39) |
Q523L |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trhr |
T |
C |
15: 44,092,547 (GRCm39) |
|
probably benign |
Het |
| Trim16 |
A |
G |
11: 62,719,944 (GRCm39) |
M84V |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,893 (GRCm39) |
A1453T |
probably benign |
Het |
| Zfp990 |
C |
A |
4: 145,264,008 (GRCm39) |
H335Q |
probably benign |
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 |
|
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 |
2013-03-25 |
Incidental Mutation