Incidental Mutation 'R1272:4921509C19Rik'
ID |
151337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921509C19Rik
|
Ensembl Gene |
ENSMUSG00000061525 |
Gene Name |
RIKEN cDNA 4921509C19 gene |
Synonyms |
LOC381389 |
MMRRC Submission |
039338-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1272 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
151312462-151318073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 151313977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 567
(L567P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080132]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080132
AA Change: L567P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079030 Gene: ENSMUSG00000061525 AA Change: L567P
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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh3b1 |
A |
G |
19: 3,971,746 (GRCm39) |
L75P |
probably damaging |
Het |
Ap1m2 |
A |
T |
9: 21,217,006 (GRCm39) |
V110E |
possibly damaging |
Het |
Bzw1 |
T |
C |
1: 58,436,979 (GRCm39) |
L70P |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,320,714 (GRCm39) |
K1347R |
probably damaging |
Het |
Cd320 |
T |
C |
17: 34,067,138 (GRCm39) |
V209A |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,231,620 (GRCm39) |
E1156G |
possibly damaging |
Het |
Dop1a |
A |
G |
9: 86,403,477 (GRCm39) |
D1559G |
probably damaging |
Het |
Kel |
A |
T |
6: 41,680,404 (GRCm39) |
W19R |
probably benign |
Het |
Ksr1 |
G |
A |
11: 79,036,904 (GRCm39) |
Q68* |
probably null |
Het |
Leo1 |
G |
A |
9: 75,357,795 (GRCm39) |
D397N |
possibly damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Mapre3 |
T |
A |
5: 31,019,232 (GRCm39) |
N25K |
probably damaging |
Het |
Mki67 |
T |
A |
7: 135,302,143 (GRCm39) |
K964* |
probably null |
Het |
Nav3 |
G |
C |
10: 109,572,860 (GRCm39) |
H1600D |
probably damaging |
Het |
Rdh10 |
C |
A |
1: 16,178,240 (GRCm39) |
H171N |
probably damaging |
Het |
Ric8a |
T |
C |
7: 140,442,289 (GRCm39) |
M513T |
probably benign |
Het |
Rnf20 |
A |
G |
4: 49,651,496 (GRCm39) |
E654G |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tfcp2l1 |
C |
A |
1: 118,560,043 (GRCm39) |
P45Q |
probably damaging |
Het |
Usp54 |
C |
T |
14: 20,611,178 (GRCm39) |
V1213I |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,976,062 (GRCm39) |
Q777L |
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 |
R1455:4921509C19Rik
|
UTSW |
2 |
151,314,824 (GRCm39) |
missense |
possibly damaging |
0.46 |
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'- TGGCTCTTTTGACTCACAGCCAG -3'
(R):5'- CAGCTTGTCCAGAAGGCTCACTAC -3'
Sequencing Primer
(F):5'- TGACTCACAGCCAGGTCTC -3'
(R):5'- CTACTGGAGAGTCTTTGGAACATCC -3'
|
Posted On |
2014-01-29 |