Incidental Mutation 'R5448:4930505A04Rik'
| ID |
429183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930505A04Rik
|
| Ensembl Gene |
ENSMUSG00000040919 |
| Gene Name |
RIKEN cDNA 4930505A04 gene |
| Synonyms |
|
| MMRRC Submission |
043013-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5448 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30376006-30421827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30376349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 173
(V173M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041763]
[ENSMUST00000152718]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041763
AA Change: V173M
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152718
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,913,239 (GRCm39) |
D699G |
possibly damaging |
Het |
| C1galt1 |
C |
T |
6: 7,866,658 (GRCm39) |
A168V |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,920,913 (GRCm39) |
E953V |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,831,948 (GRCm39) |
D411V |
probably damaging |
Het |
| Cdadc1 |
T |
A |
14: 59,811,275 (GRCm39) |
I412L |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,542,902 (GRCm39) |
N424D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,655,528 (GRCm39) |
I386N |
possibly damaging |
Het |
| Gm9887 |
C |
A |
12: 69,418,865 (GRCm39) |
|
probably benign |
Het |
| Itgae |
T |
C |
11: 73,024,734 (GRCm39) |
|
probably null |
Het |
| Klhl2 |
C |
A |
8: 65,275,642 (GRCm39) |
|
probably null |
Het |
| Krt1 |
T |
A |
15: 101,757,464 (GRCm39) |
K249* |
probably null |
Het |
| L3mbtl2 |
T |
C |
15: 81,568,534 (GRCm39) |
Y513H |
possibly damaging |
Het |
| Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,437 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4c112 |
T |
G |
2: 88,853,845 (GRCm39) |
L167F |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,888 (GRCm39) |
T188A |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,121,623 (GRCm39) |
E77G |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,922,638 (GRCm39) |
I603V |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,768,361 (GRCm39) |
V2212A |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,925,430 (GRCm39) |
A70T |
probably benign |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Prrx1 |
T |
C |
1: 163,075,867 (GRCm39) |
E233G |
probably damaging |
Het |
| Rdh16f2 |
C |
T |
10: 127,712,932 (GRCm39) |
T310I |
probably benign |
Het |
| Rfx6 |
T |
C |
10: 51,559,733 (GRCm39) |
S187P |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,517,013 (GRCm39) |
F135I |
probably benign |
Het |
| Shld2 |
G |
A |
14: 33,990,327 (GRCm39) |
T193I |
probably benign |
Het |
| Slc24a1 |
A |
G |
9: 64,855,609 (GRCm39) |
F433L |
probably benign |
Het |
| Slfn3 |
T |
A |
11: 83,105,431 (GRCm39) |
L476Q |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Trappc1 |
T |
C |
11: 69,216,361 (GRCm39) |
S136P |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,470,654 (GRCm39) |
E881G |
possibly damaging |
Het |
| Ubash3b |
A |
G |
9: 40,948,731 (GRCm39) |
|
probably null |
Het |
| Wdtc1 |
G |
A |
4: 133,021,608 (GRCm39) |
A642V |
probably benign |
Het |
| Zdhhc22 |
T |
C |
12: 87,035,341 (GRCm39) |
D37G |
possibly damaging |
Het |
|
| Other mutations in 4930505A04Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01367:4930505A04Rik
|
APN |
11 |
30,404,843 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01545:4930505A04Rik
|
APN |
11 |
30,376,228 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0400:4930505A04Rik
|
UTSW |
11 |
30,376,360 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1029:4930505A04Rik
|
UTSW |
11 |
30,396,389 (GRCm39) |
splice site |
probably benign |
|
|
R1029:4930505A04Rik
|
UTSW |
11 |
30,376,177 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1585:4930505A04Rik
|
UTSW |
11 |
30,377,175 (GRCm39) |
splice site |
probably benign |
|
|
R4708:4930505A04Rik
|
UTSW |
11 |
30,404,717 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4993:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4994:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4995:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4996:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5187:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5189:4930505A04Rik
|
UTSW |
11 |
30,376,169 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5330:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5333:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5449:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5450:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5475:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5477:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5665:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5823:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5832:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5833:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5835:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5873:4930505A04Rik
|
UTSW |
11 |
30,376,220 (GRCm39) |
nonsense |
probably null |
|
|
R6032:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6032:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6037:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6037:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6058:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6224:4930505A04Rik
|
UTSW |
11 |
30,404,815 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8394:4930505A04Rik
|
UTSW |
11 |
30,404,880 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8536:4930505A04Rik
|
UTSW |
11 |
30,376,217 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9149:4930505A04Rik
|
UTSW |
11 |
30,396,304 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9765:4930505A04Rik
|
UTSW |
11 |
30,404,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF046:4930505A04Rik
|
UTSW |
11 |
30,376,249 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAGCAACTCTTGGGAATTC -3'
(R):5'- CACAGGCTCTTCTCTGACTG -3'
Sequencing Primer
(F):5'- CCAGCAACTCTTGGGAATTCTGTTG -3'
(R):5'- ACAGGCTCTTCTCTGACTGTTTTAC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation