Incidental Mutation 'IGL01516:4921517D22Rik'
| ID |
90397 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4921517D22Rik
|
| Ensembl Gene |
ENSMUSG00000049902 |
| Gene Name |
RIKEN cDNA 4921517D22 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL01516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
59835216-59841917 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59838548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 95
(S95P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061597]
[ENSMUST00000225373]
|
| AlphaFold |
Q8CET0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061597
AA Change: S95P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225373
AA Change: S95P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225788
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,109,043 (GRCm39) |
H709L |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,060,172 (GRCm39) |
Y455C |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,453,563 (GRCm39) |
T341I |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,611,830 (GRCm39) |
Y77* |
probably null |
Het |
| Cps1 |
C |
T |
1: 67,269,443 (GRCm39) |
R1481C |
probably damaging |
Het |
| Cspg5 |
A |
G |
9: 110,075,761 (GRCm39) |
K166E |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,616,584 (GRCm39) |
|
probably null |
Het |
| Epha5 |
C |
A |
5: 84,534,135 (GRCm39) |
L65F |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,367,404 (GRCm39) |
K438* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,076,432 (GRCm39) |
C1005S |
probably damaging |
Het |
| Hs3st5 |
C |
T |
10: 36,709,047 (GRCm39) |
T194I |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,816,108 (GRCm39) |
D45V |
probably benign |
Het |
| Il1rn |
C |
T |
2: 24,239,551 (GRCm39) |
T130I |
probably damaging |
Het |
| Klk1b22 |
G |
T |
7: 43,765,732 (GRCm39) |
C196F |
probably damaging |
Het |
| Lamp1 |
C |
T |
8: 13,223,863 (GRCm39) |
H332Y |
probably damaging |
Het |
| Limd2 |
T |
C |
11: 106,049,870 (GRCm39) |
T40A |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
T |
C |
6: 115,826,491 (GRCm39) |
T167A |
probably damaging |
Het |
| Mitf |
T |
A |
6: 97,987,351 (GRCm39) |
|
probably null |
Het |
| Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,132 (GRCm39) |
L201Q |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,760,266 (GRCm39) |
I261F |
probably damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,165 (GRCm39) |
I91F |
probably benign |
Het |
| Paics |
T |
A |
5: 77,104,578 (GRCm39) |
L68I |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,104,337 (GRCm39) |
V56A |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,852,428 (GRCm39) |
V102M |
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,681,448 (GRCm39) |
T62I |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,266,728 (GRCm39) |
E212V |
probably damaging |
Het |
| Rufy2 |
A |
C |
10: 62,847,212 (GRCm39) |
K539Q |
possibly damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
T |
C |
15: 99,610,094 (GRCm39) |
F442L |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,576 (GRCm39) |
V125A |
probably damaging |
Het |
| Tmem154 |
C |
T |
3: 84,591,897 (GRCm39) |
H120Y |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,823 (GRCm39) |
K1321E |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,383,459 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,668,234 (GRCm39) |
D168G |
possibly damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,857 (GRCm39) |
F137L |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,632 (GRCm39) |
T262S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,370 (GRCm39) |
V793A |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,038 (GRCm39) |
N300S |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,426,127 (GRCm39) |
|
probably null |
Het |
| Zfp784 |
G |
A |
7: 5,039,036 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
G |
T |
12: 79,334,625 (GRCm39) |
P131Q |
probably benign |
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 |
|
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 |
|
|
R0664:4921517D22Rik
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation