Incidental Mutation 'R4479:D130040H23Rik'
| ID |
331402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D130040H23Rik
|
| Ensembl Gene |
ENSMUSG00000079038 |
| Gene Name |
RIKEN cDNA D130040H23 gene |
| Synonyms |
|
| MMRRC Submission |
041736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R4479 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
69723732-69766859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69755155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 187
(H187N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078257]
[ENSMUST00000212549]
|
| AlphaFold |
Q8BII3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078257
AA Change: H187N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077378
Gene: ENSMUSG00000079038
AA Change: H187N
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
170 |
4.27e-17 |
PROSPERO |
|
internal_repeat_1
|
199 |
366 |
4.27e-17 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212443
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212549
AA Change: T204K
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,301,326 (GRCm39) |
R66H |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,885,754 (GRCm39) |
E150G |
probably damaging |
Het |
| Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,175,573 (GRCm39) |
|
probably benign |
Het |
| Dusp15 |
A |
G |
2: 152,786,102 (GRCm39) |
L135P |
probably damaging |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,515,127 (GRCm39) |
V10L |
probably benign |
Het |
| F830104G03Rik |
A |
G |
3: 56,797,634 (GRCm39) |
S98P |
unknown |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Ighv1-22 |
G |
T |
12: 114,710,283 (GRCm39) |
A15E |
possibly damaging |
Het |
| Ints4 |
T |
C |
7: 97,134,178 (GRCm39) |
S37P |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,015 (GRCm39) |
T1067I |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,181,362 (GRCm39) |
|
probably null |
Het |
| Or10v1 |
A |
G |
19: 11,873,922 (GRCm39) |
Y179C |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,514 (GRCm39) |
I80T |
possibly damaging |
Het |
| Or5ac24 |
G |
A |
16: 59,165,230 (GRCm39) |
T278I |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Psma3 |
T |
C |
12: 71,031,555 (GRCm39) |
|
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,372,412 (GRCm39) |
|
probably benign |
Het |
| Tas2r115 |
T |
C |
6: 132,714,495 (GRCm39) |
D152G |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,315 (GRCm39) |
L308Q |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,985,236 (GRCm39) |
A15T |
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,747,233 (GRCm39) |
R820C |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,147,984 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in D130040H23Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:D130040H23Rik
|
APN |
8 |
69,753,422 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0164:D130040H23Rik
|
UTSW |
8 |
69,755,195 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0164:D130040H23Rik
|
UTSW |
8 |
69,755,195 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0269:D130040H23Rik
|
UTSW |
8 |
69,753,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1534:D130040H23Rik
|
UTSW |
8 |
69,755,378 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1565:D130040H23Rik
|
UTSW |
8 |
69,755,812 (GRCm39) |
makesense |
probably null |
|
|
R1648:D130040H23Rik
|
UTSW |
8 |
69,755,633 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1869:D130040H23Rik
|
UTSW |
8 |
69,755,354 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1870:D130040H23Rik
|
UTSW |
8 |
69,755,354 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1871:D130040H23Rik
|
UTSW |
8 |
69,755,354 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2025:D130040H23Rik
|
UTSW |
8 |
69,755,525 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3418:D130040H23Rik
|
UTSW |
8 |
69,755,579 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3810:D130040H23Rik
|
UTSW |
8 |
69,755,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3896:D130040H23Rik
|
UTSW |
8 |
69,755,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:D130040H23Rik
|
UTSW |
8 |
69,755,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4478:D130040H23Rik
|
UTSW |
8 |
69,755,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4480:D130040H23Rik
|
UTSW |
8 |
69,755,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6849:D130040H23Rik
|
UTSW |
8 |
69,755,303 (GRCm39) |
nonsense |
probably null |
|
|
R7121:D130040H23Rik
|
UTSW |
8 |
69,754,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7821:D130040H23Rik
|
UTSW |
8 |
69,752,887 (GRCm39) |
splice site |
probably null |
|
|
R8269:D130040H23Rik
|
UTSW |
8 |
69,755,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8747:D130040H23Rik
|
UTSW |
8 |
69,755,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8946:D130040H23Rik
|
UTSW |
8 |
69,755,033 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9095:D130040H23Rik
|
UTSW |
8 |
69,755,748 (GRCm39) |
frame shift |
probably null |
|
|
R9776:D130040H23Rik
|
UTSW |
8 |
69,755,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACAACAGAGTCACCTCCAGA -3'
(R):5'- TTGTGATGTGCAAAGGTCTTAC -3'
Sequencing Primer
(F):5'- GCCCTATGAATGTAATCAGTGTGC -3'
(R):5'- GTGCAAAGGTCTTACCACATTGAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation