Incidental Mutation 'R1455:4921509C19Rik'
ID |
161704 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921509C19Rik
|
Ensembl Gene |
ENSMUSG00000061525 |
Gene Name |
RIKEN cDNA 4921509C19 gene |
Synonyms |
LOC381389 |
MMRRC Submission |
039510-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1455 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
151312462-151318073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 151314824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 285
(N285D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080132]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080132
AA Change: N285D
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000079030 Gene: ENSMUSG00000061525 AA Change: N285D
Domain | Start | End | E-Value | Type |
S_TKc
|
24 |
271 |
2.18e-97 |
SMART |
low complexity region
|
430 |
447 |
N/A |
INTRINSIC |
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155885
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
T |
G |
8: 25,483,125 (GRCm39) |
M227L |
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,585,471 (GRCm39) |
D21G |
probably damaging |
Het |
Arhgap32 |
C |
T |
9: 32,171,381 (GRCm39) |
A1387V |
probably benign |
Het |
Atg4d |
T |
A |
9: 21,182,097 (GRCm39) |
V306E |
probably damaging |
Het |
Brsk1 |
G |
A |
7: 4,707,250 (GRCm39) |
V268M |
probably damaging |
Het |
Cfap300 |
T |
G |
9: 8,022,457 (GRCm39) |
N255T |
probably benign |
Het |
Clec4a4 |
A |
G |
6: 122,989,758 (GRCm39) |
E133G |
possibly damaging |
Het |
Col24a1 |
T |
A |
3: 145,166,593 (GRCm39) |
L1076H |
probably damaging |
Het |
Ddah1 |
G |
T |
3: 145,594,864 (GRCm39) |
R208L |
probably benign |
Het |
Dysf |
A |
G |
6: 84,090,368 (GRCm39) |
N960S |
probably benign |
Het |
Egln2 |
A |
G |
7: 26,859,796 (GRCm39) |
Y306H |
probably damaging |
Het |
Fgfr1 |
T |
C |
8: 26,052,292 (GRCm39) |
V293A |
possibly damaging |
Het |
Gja3 |
A |
G |
14: 57,273,842 (GRCm39) |
Y177H |
probably damaging |
Het |
Glul |
T |
A |
1: 153,782,845 (GRCm39) |
|
probably null |
Het |
Gprc5a |
G |
A |
6: 135,056,245 (GRCm39) |
V231I |
probably benign |
Het |
Kdm4d |
C |
A |
9: 14,375,691 (GRCm39) |
A56S |
probably damaging |
Het |
Lingo4 |
G |
A |
3: 94,306,699 (GRCm39) |
|
probably benign |
Het |
Map6 |
A |
G |
7: 98,917,421 (GRCm39) |
T65A |
probably damaging |
Het |
Mmrn2 |
T |
C |
14: 34,121,089 (GRCm39) |
I653T |
probably benign |
Het |
Ndufa12 |
A |
G |
10: 94,039,176 (GRCm39) |
T70A |
probably benign |
Het |
Nfe2l3 |
C |
A |
6: 51,434,744 (GRCm39) |
P435T |
possibly damaging |
Het |
Npc1l1 |
A |
T |
11: 6,178,174 (GRCm39) |
V412E |
possibly damaging |
Het |
Or51a39 |
A |
T |
7: 102,363,205 (GRCm39) |
Y138* |
probably null |
Het |
Or6aa1 |
A |
T |
7: 86,043,803 (GRCm39) |
F301Y |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 82,020,008 (GRCm39) |
F1344L |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,181,818 (GRCm39) |
V297A |
probably benign |
Het |
Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
Pramel7 |
T |
C |
2: 87,320,067 (GRCm39) |
T409A |
probably benign |
Het |
Proc |
C |
G |
18: 32,256,451 (GRCm39) |
M405I |
probably damaging |
Het |
Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
Slc4a10 |
G |
T |
2: 62,117,274 (GRCm39) |
K744N |
probably damaging |
Het |
Spdye4c |
A |
T |
2: 128,438,478 (GRCm39) |
I279F |
probably damaging |
Het |
Srcap |
G |
T |
7: 127,129,822 (GRCm39) |
R568L |
probably damaging |
Het |
Stag3 |
T |
A |
5: 138,309,997 (GRCm39) |
M1215K |
probably benign |
Het |
Tenm3 |
C |
T |
8: 48,732,083 (GRCm39) |
A1274T |
possibly damaging |
Het |
Tet2 |
A |
G |
3: 133,179,406 (GRCm39) |
V1253A |
possibly damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trip12 |
T |
C |
1: 84,736,821 (GRCm39) |
I800V |
probably benign |
Het |
Zfc3h1 |
T |
C |
10: 115,248,013 (GRCm39) |
I1072T |
probably benign |
Het |
Zfp148 |
T |
A |
16: 33,315,835 (GRCm39) |
|
probably null |
Het |
Zfp941 |
A |
G |
7: 140,392,687 (GRCm39) |
V224A |
probably benign |
Het |
|
Other mutations in 4921509C19Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01098:4921509C19Rik
|
APN |
2 |
151,315,453 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02117:4921509C19Rik
|
APN |
2 |
151,315,466 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02432:4921509C19Rik
|
APN |
2 |
151,314,481 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03025:4921509C19Rik
|
APN |
2 |
151,315,405 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0321:4921509C19Rik
|
UTSW |
2 |
151,314,620 (GRCm39) |
missense |
probably benign |
0.01 |
R0961:4921509C19Rik
|
UTSW |
2 |
151,314,686 (GRCm39) |
missense |
probably benign |
0.01 |
R1272:4921509C19Rik
|
UTSW |
2 |
151,313,977 (GRCm39) |
missense |
probably damaging |
0.98 |
R3177:4921509C19Rik
|
UTSW |
2 |
151,314,020 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3277:4921509C19Rik
|
UTSW |
2 |
151,314,020 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4206:4921509C19Rik
|
UTSW |
2 |
151,315,435 (GRCm39) |
missense |
probably benign |
0.44 |
R4655:4921509C19Rik
|
UTSW |
2 |
151,314,778 (GRCm39) |
missense |
probably benign |
0.03 |
R4680:4921509C19Rik
|
UTSW |
2 |
151,315,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:4921509C19Rik
|
UTSW |
2 |
151,313,791 (GRCm39) |
missense |
unknown |
|
R4702:4921509C19Rik
|
UTSW |
2 |
151,314,509 (GRCm39) |
missense |
probably benign |
0.00 |
R4867:4921509C19Rik
|
UTSW |
2 |
151,314,742 (GRCm39) |
nonsense |
probably null |
|
R4962:4921509C19Rik
|
UTSW |
2 |
151,314,728 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5117:4921509C19Rik
|
UTSW |
2 |
151,314,460 (GRCm39) |
missense |
probably benign |
0.00 |
R5484:4921509C19Rik
|
UTSW |
2 |
151,313,851 (GRCm39) |
missense |
probably benign |
|
R5602:4921509C19Rik
|
UTSW |
2 |
151,315,459 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6374:4921509C19Rik
|
UTSW |
2 |
151,314,800 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6894:4921509C19Rik
|
UTSW |
2 |
151,315,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R7079:4921509C19Rik
|
UTSW |
2 |
151,315,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R7109:4921509C19Rik
|
UTSW |
2 |
151,315,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R7155:4921509C19Rik
|
UTSW |
2 |
151,315,489 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7441:4921509C19Rik
|
UTSW |
2 |
151,314,845 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7845:4921509C19Rik
|
UTSW |
2 |
151,314,229 (GRCm39) |
missense |
probably damaging |
0.96 |
R7853:4921509C19Rik
|
UTSW |
2 |
151,315,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R8773:4921509C19Rik
|
UTSW |
2 |
151,314,062 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8805:4921509C19Rik
|
UTSW |
2 |
151,313,285 (GRCm39) |
splice site |
probably benign |
|
R8983:4921509C19Rik
|
UTSW |
2 |
151,313,272 (GRCm39) |
missense |
unknown |
|
R9257:4921509C19Rik
|
UTSW |
2 |
151,315,627 (GRCm39) |
missense |
probably benign |
0.05 |
R9566:4921509C19Rik
|
UTSW |
2 |
151,314,226 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCACACTAGATGCCCTCCTTAC -3'
(R):5'- GGCACCAAGATAATCATGGGCCAG -3'
Sequencing Primer
(F):5'- ACTAGATGCCCTCCTTACAGATG -3'
(R):5'- TGCCCCAGAACTGTTTGAAG -3'
|
Posted On |
2014-03-14 |