Incidental Mutation 'R6288:4930438A08Rik'
| ID |
509240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930438A08Rik
|
| Ensembl Gene |
ENSMUSG00000069873 |
| Gene Name |
RIKEN cDNA 4930438A08 gene |
| Synonyms |
|
| MMRRC Submission |
044458-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58165654-58185116 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58184421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 380
(D380Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108834]
[ENSMUST00000208022]
|
| AlphaFold |
Q5SPH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108834
AA Change: D380Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104462
Gene: ENSMUSG00000069873
AA Change: D380Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Pyr_redox_2
|
29 |
166 |
2e-8 |
PFAM |
|
Pfam:AlaDh_PNT_C
|
48 |
124 |
8.8e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
61 |
98 |
1.9e-7 |
PFAM |
|
Pfam:HI0933_like
|
62 |
103 |
3.1e-8 |
PFAM |
|
Pfam:Pyr_redox
|
63 |
105 |
1.8e-7 |
PFAM |
|
Pfam:FAD_binding_2
|
63 |
119 |
8.7e-9 |
PFAM |
|
Pfam:DAO
|
63 |
212 |
2.9e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
66 |
133 |
7.1e-15 |
PFAM |
|
Pfam:Amino_oxidase
|
71 |
270 |
7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208022
|
| Meta Mutation Damage Score |
0.8730 |
| 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 |
|---|
| 4931406B18Rik |
T |
A |
7: 43,147,549 (GRCm39) |
E274V |
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 4930438A08Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02884:4930438A08Rik
|
APN |
11 |
58,178,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03088:4930438A08Rik
|
APN |
11 |
58,184,210 (GRCm39) |
missense |
unknown |
|
|
R0715:4930438A08Rik
|
UTSW |
11 |
58,179,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1139:4930438A08Rik
|
UTSW |
11 |
58,179,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:4930438A08Rik
|
UTSW |
11 |
58,179,214 (GRCm39) |
nonsense |
probably null |
|
|
R5906:4930438A08Rik
|
UTSW |
11 |
58,182,260 (GRCm39) |
splice site |
probably null |
|
|
R6056:4930438A08Rik
|
UTSW |
11 |
58,184,464 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6981:4930438A08Rik
|
UTSW |
11 |
58,184,544 (GRCm39) |
unclassified |
probably benign |
|
|
R6989:4930438A08Rik
|
UTSW |
11 |
58,178,228 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7195:4930438A08Rik
|
UTSW |
11 |
58,179,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7344:4930438A08Rik
|
UTSW |
11 |
58,182,273 (GRCm39) |
missense |
|
|
|
R7651:4930438A08Rik
|
UTSW |
11 |
58,184,188 (GRCm39) |
missense |
|
|
|
R8141:4930438A08Rik
|
UTSW |
11 |
58,177,411 (GRCm39) |
missense |
|
|
|
R8187:4930438A08Rik
|
UTSW |
11 |
58,180,548 (GRCm39) |
missense |
|
|
|
R8214:4930438A08Rik
|
UTSW |
11 |
58,177,447 (GRCm39) |
missense |
|
|
|
R8228:4930438A08Rik
|
UTSW |
11 |
58,182,381 (GRCm39) |
missense |
|
|
|
R8744:4930438A08Rik
|
UTSW |
11 |
58,182,260 (GRCm39) |
splice site |
probably null |
|
|
R8977:4930438A08Rik
|
UTSW |
11 |
58,184,710 (GRCm39) |
missense |
unknown |
|
|
R9228:4930438A08Rik
|
UTSW |
11 |
58,178,296 (GRCm39) |
missense |
|
|
|
R9346:4930438A08Rik
|
UTSW |
11 |
58,179,095 (GRCm39) |
missense |
|
|
|
R9421:4930438A08Rik
|
UTSW |
11 |
58,177,451 (GRCm39) |
missense |
|
|
|
R9524:4930438A08Rik
|
UTSW |
11 |
58,180,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1186:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1187:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1188:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1189:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1190:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1191:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1192:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACCACTGCTAAAGCTGC -3'
(R):5'- AAGGGTCTTGACTCCAGTTCTTG -3'
Sequencing Primer
(F):5'- TGCTAAAGCTGCCCGCCTC -3'
(R):5'- CCAGTTCTTGATTGCAGAGTAAGGAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation