Incidental Mutation 'R5477:4930505A04Rik'
ID |
434122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930505A04Rik
|
Ensembl Gene |
ENSMUSG00000040919 |
Gene Name |
RIKEN cDNA 4930505A04 gene |
Synonyms |
|
MMRRC Submission |
043038-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5477 (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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
probably 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 |
R5448:4930505A04Rik
|
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 |
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'- CAACTCTTGGGAATTCTGTTGG -3'
(R):5'- CACAGGCTCTTCTCTGACTG -3'
Sequencing Primer
(F):5'- AACTCTTGGGAATTCTGTTGGCATAG -3'
(R):5'- ACAGGCTCTTCTCTGACTGTTTTAC -3'
|
Posted On |
2016-10-06 |