Incidental Mutation 'R2993:1700003H04Rik'
ID |
257958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700003H04Rik
|
Ensembl Gene |
ENSMUSG00000039174 |
Gene Name |
RIKEN cDNA 1700003H04 gene |
Synonyms |
|
MMRRC Submission |
040528-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R2993 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
124359540-124374740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124372184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 67
(W67R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137342
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047110]
[ENSMUST00000178485]
[ENSMUST00000178953]
[ENSMUST00000180033]
[ENSMUST00000180162]
|
AlphaFold |
E9PXM2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047110
AA Change: W67R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035388 Gene: ENSMUSG00000039174 AA Change: W67R
Domain | Start | End | E-Value | Type |
SCOP:d1kz7a2
|
7 |
68 |
4e-4 |
SMART |
Blast:PH
|
18 |
114 |
4e-35 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177772
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178485
AA Change: W67R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136984 Gene: ENSMUSG00000039174 AA Change: W67R
Domain | Start | End | E-Value | Type |
SCOP:d1kz7a2
|
7 |
68 |
2e-4 |
SMART |
Blast:PH
|
18 |
99 |
2e-54 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178953
|
SMART Domains |
Protein: ENSMUSP00000136955 Gene: ENSMUSG00000039174
Domain | Start | End | E-Value | Type |
Blast:PH
|
18 |
91 |
3e-16 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000180033
AA Change: W67R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136217 Gene: ENSMUSG00000039174 AA Change: W67R
Domain | Start | End | E-Value | Type |
PH
|
18 |
119 |
1.53e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000180162
AA Change: W67R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137342 Gene: ENSMUSG00000039174 AA Change: W67R
Domain | Start | End | E-Value | Type |
SCOP:d1kz7a2
|
7 |
117 |
2e-7 |
SMART |
Blast:PH
|
18 |
115 |
1e-67 |
BLAST |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,134,384 (GRCm39) |
V1377A |
probably damaging |
Het |
Adarb2 |
A |
C |
13: 8,763,752 (GRCm39) |
I550L |
probably benign |
Het |
Afdn |
T |
C |
17: 14,111,262 (GRCm39) |
|
probably null |
Het |
Ago1 |
G |
T |
4: 126,333,839 (GRCm39) |
|
probably benign |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Cdc7 |
G |
A |
5: 107,121,764 (GRCm39) |
V226I |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cyp4a31 |
G |
A |
4: 115,427,017 (GRCm39) |
V206I |
probably benign |
Het |
Ddx47 |
G |
T |
6: 134,995,944 (GRCm39) |
R120L |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,542,713 (GRCm39) |
L2486F |
probably damaging |
Het |
Eif3d |
A |
G |
15: 77,845,905 (GRCm39) |
I372T |
possibly damaging |
Het |
Eogt |
A |
T |
6: 97,095,915 (GRCm39) |
|
probably null |
Het |
Epb42 |
G |
A |
2: 120,859,525 (GRCm39) |
|
probably benign |
Het |
Fbxl2 |
T |
C |
9: 113,818,484 (GRCm39) |
E159G |
possibly damaging |
Het |
Gabrb2 |
T |
C |
11: 42,488,476 (GRCm39) |
V314A |
probably damaging |
Het |
Gpr15lg |
T |
A |
14: 36,829,402 (GRCm39) |
H27L |
probably benign |
Het |
Gtf2h3 |
T |
C |
5: 124,721,997 (GRCm39) |
F32L |
probably benign |
Het |
Gzmk |
A |
G |
13: 113,317,011 (GRCm39) |
I56T |
probably damaging |
Het |
Katnbl1 |
G |
T |
2: 112,238,963 (GRCm39) |
|
probably null |
Het |
Klhdc4 |
G |
C |
8: 122,533,320 (GRCm39) |
S118* |
probably null |
Het |
Klrb1-ps1 |
A |
T |
6: 129,097,992 (GRCm39) |
K73N |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,446,250 (GRCm39) |
D98G |
probably damaging |
Het |
Lrrfip1 |
C |
A |
1: 91,032,956 (GRCm39) |
D313E |
probably damaging |
Het |
Misp3 |
A |
G |
8: 84,738,213 (GRCm39) |
L34P |
probably damaging |
Het |
Mmp21 |
C |
T |
7: 133,280,715 (GRCm39) |
R85H |
probably damaging |
Het |
Mrpl16 |
A |
G |
19: 11,751,895 (GRCm39) |
I218M |
possibly damaging |
Het |
Mtmr4 |
T |
A |
11: 87,495,823 (GRCm39) |
V553D |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Spata31e2 |
A |
T |
1: 26,724,909 (GRCm39) |
D90E |
possibly damaging |
Het |
Vmn1r224 |
T |
A |
17: 20,639,472 (GRCm39) |
S16R |
probably damaging |
Het |
Vmn2r55 |
C |
T |
7: 12,418,882 (GRCm39) |
A13T |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,991,909 (GRCm39) |
V637A |
probably damaging |
Het |
|
Other mutations in 1700003H04Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01451:1700003H04Rik
|
APN |
3 |
124,373,527 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01640:1700003H04Rik
|
APN |
3 |
124,373,587 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03240:1700003H04Rik
|
APN |
3 |
124,350,365 (GRCm39) |
utr 3 prime |
probably benign |
|
R1513:1700003H04Rik
|
UTSW |
3 |
124,368,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1537:1700003H04Rik
|
UTSW |
3 |
124,372,124 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1832:1700003H04Rik
|
UTSW |
3 |
124,350,509 (GRCm39) |
missense |
unknown |
|
R1833:1700003H04Rik
|
UTSW |
3 |
124,350,509 (GRCm39) |
missense |
unknown |
|
R1872:1700003H04Rik
|
UTSW |
3 |
124,350,493 (GRCm39) |
missense |
unknown |
|
R4118:1700003H04Rik
|
UTSW |
3 |
124,373,503 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5271:1700003H04Rik
|
UTSW |
3 |
124,373,496 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5911:1700003H04Rik
|
UTSW |
3 |
124,350,380 (GRCm39) |
utr 3 prime |
probably benign |
|
R7479:1700003H04Rik
|
UTSW |
3 |
124,372,142 (GRCm39) |
missense |
probably benign |
0.00 |
R7573:1700003H04Rik
|
UTSW |
3 |
124,366,917 (GRCm39) |
missense |
|
|
R7995:1700003H04Rik
|
UTSW |
3 |
124,350,528 (GRCm39) |
missense |
unknown |
|
R9532:1700003H04Rik
|
UTSW |
3 |
124,350,397 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTGCCCACTGTTGATCC -3'
(R):5'- GCTGCAGCTTTGTTGAGATCC -3'
Sequencing Primer
(F):5'- CCACTGTTGATCCATTTATACACATG -3'
(R):5'- AGCTTTGTTGAGATCCATCTACCATG -3'
|
Posted On |
2015-01-11 |