Incidental Mutation 'R0664:4921517D22Rik'
ID |
61952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921517D22Rik
|
Ensembl Gene |
ENSMUSG00000049902 |
Gene Name |
RIKEN cDNA 4921517D22 gene |
Synonyms |
|
MMRRC Submission |
038849-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R0664 (G1)
|
Quality Score |
100 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
59835216-59841917 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GCC to GC
at 59839412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061597]
[ENSMUST00000225373]
|
AlphaFold |
Q8CET0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061597
|
Predicted Effect |
probably null
Transcript: ENSMUST00000225373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225788
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
Agmo |
A |
T |
12: 37,302,571 (GRCm39) |
H136L |
probably damaging |
Het |
B020004C17Rik |
G |
A |
14: 57,254,225 (GRCm39) |
R116H |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
Champ1 |
G |
A |
8: 13,929,485 (GRCm39) |
V548M |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,364,002 (GRCm39) |
M3541L |
probably damaging |
Het |
Emc9 |
A |
G |
14: 55,819,365 (GRCm39) |
L138P |
possibly damaging |
Het |
Epcam |
T |
A |
17: 87,947,398 (GRCm39) |
Y51N |
possibly damaging |
Het |
Gpr55 |
A |
T |
1: 85,868,739 (GRCm39) |
S281T |
probably benign |
Het |
Grid2ip |
T |
A |
5: 143,349,732 (GRCm39) |
|
probably null |
Het |
Hgfac |
G |
T |
5: 35,205,522 (GRCm39) |
V601F |
probably benign |
Het |
Hlcs |
A |
G |
16: 94,032,170 (GRCm39) |
W545R |
probably damaging |
Het |
Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
Jcad |
A |
G |
18: 4,676,063 (GRCm39) |
D1275G |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,768,011 (GRCm39) |
E5315* |
probably null |
Het |
Nfam1 |
T |
C |
15: 82,899,139 (GRCm39) |
T176A |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,204,267 (GRCm39) |
F432S |
probably damaging |
Het |
Or4c31 |
C |
T |
2: 88,292,515 (GRCm39) |
P296L |
probably damaging |
Het |
Prmt5 |
G |
T |
14: 54,745,313 (GRCm39) |
T618K |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Serpinb7 |
A |
G |
1: 107,356,037 (GRCm39) |
D20G |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
Stk26 |
T |
A |
X: 49,976,803 (GRCm39) |
Y283* |
probably null |
Het |
Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
Thada |
A |
G |
17: 84,644,257 (GRCm39) |
L1288P |
probably damaging |
Het |
Ttbk2 |
C |
A |
2: 120,579,302 (GRCm39) |
V607F |
probably damaging |
Het |
|
Other mutations in 4921517D22Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00827:4921517D22Rik
|
APN |
13 |
59,837,290 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01516:4921517D22Rik
|
APN |
13 |
59,838,548 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4677001:4921517D22Rik
|
UTSW |
13 |
59,838,305 (GRCm39) |
missense |
probably benign |
0.12 |
R0395:4921517D22Rik
|
UTSW |
13 |
59,837,470 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0579:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R0757:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R0758:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R0777:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R0779:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R0814:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R0870:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R0872:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R0873:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1062:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1064:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1149:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1149:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1151:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1152:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1207:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1207:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1285:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1339:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1358:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1359:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1360:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1361:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R1679:4921517D22Rik
|
UTSW |
13 |
59,839,412 (GRCm39) |
frame shift |
probably null |
|
R4703:4921517D22Rik
|
UTSW |
13 |
59,837,342 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4785:4921517D22Rik
|
UTSW |
13 |
59,839,406 (GRCm39) |
missense |
probably benign |
|
R4823:4921517D22Rik
|
UTSW |
13 |
59,838,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R5054:4921517D22Rik
|
UTSW |
13 |
59,837,315 (GRCm39) |
missense |
probably damaging |
0.97 |
R6144:4921517D22Rik
|
UTSW |
13 |
59,837,347 (GRCm39) |
missense |
probably damaging |
0.99 |
R6977:4921517D22Rik
|
UTSW |
13 |
59,839,394 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7009:4921517D22Rik
|
UTSW |
13 |
59,838,624 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7791:4921517D22Rik
|
UTSW |
13 |
59,838,508 (GRCm39) |
missense |
probably benign |
|
R8319:4921517D22Rik
|
UTSW |
13 |
59,838,486 (GRCm39) |
missense |
probably benign |
|
R8422:4921517D22Rik
|
UTSW |
13 |
59,839,443 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R8520:4921517D22Rik
|
UTSW |
13 |
59,838,423 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGAAATGAAACTCCGGTGCCC -3'
(R):5'- TCACCAATGAAATGGTCAGAGCTGC -3'
Sequencing Primer
(F):5'- TCGCCTGCATGTGGTATCAT -3'
(R):5'- GCTACTTGAAACATGATTGACTCGAC -3'
|
Posted On |
2013-07-30 |