Incidental Mutation 'R4680:4921509C19Rik'
ID |
349975 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921509C19Rik
|
Ensembl Gene |
ENSMUSG00000061525 |
Gene Name |
RIKEN cDNA 4921509C19 gene |
Synonyms |
LOC381389 |
MMRRC Submission |
041933-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4680 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
151312462-151318073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 151315390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 96
(L96Q)
|
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: L96Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000079030 Gene: ENSMUSG00000061525 AA Change: L96Q
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,822,533 (GRCm39) |
Y368C |
probably damaging |
Het |
Acin1 |
T |
C |
14: 54,924,215 (GRCm39) |
N8S |
probably benign |
Het |
Aspm |
T |
C |
1: 139,408,409 (GRCm39) |
V2432A |
probably benign |
Het |
Atf2 |
A |
T |
2: 73,659,025 (GRCm39) |
|
probably null |
Het |
B3gnt2 |
A |
G |
11: 22,787,105 (GRCm39) |
S28P |
probably damaging |
Het |
Chil5 |
A |
G |
3: 105,942,191 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
Dennd3 |
A |
T |
15: 73,405,225 (GRCm39) |
H326L |
possibly damaging |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,118,475 (GRCm39) |
V461A |
possibly damaging |
Het |
Fhad1 |
G |
A |
4: 141,738,858 (GRCm39) |
Q31* |
probably null |
Het |
Gpr26 |
A |
G |
7: 131,576,082 (GRCm39) |
T249A |
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,386,735 (GRCm39) |
M958L |
probably damaging |
Het |
Kat2b-ps |
A |
G |
5: 93,539,299 (GRCm39) |
|
noncoding transcript |
Het |
Kdm2b |
A |
T |
5: 123,072,849 (GRCm39) |
V343E |
probably damaging |
Het |
Lipi |
A |
G |
16: 75,362,417 (GRCm39) |
|
probably null |
Het |
Ltb4r1 |
T |
C |
14: 56,004,925 (GRCm39) |
F76S |
probably damaging |
Het |
Msantd2 |
A |
G |
9: 37,434,387 (GRCm39) |
Y209C |
probably damaging |
Het |
Nid1 |
G |
A |
13: 13,647,437 (GRCm39) |
C401Y |
probably damaging |
Het |
Obox1 |
A |
T |
7: 15,290,089 (GRCm39) |
N144I |
probably damaging |
Het |
Or14j7 |
T |
C |
17: 38,234,813 (GRCm39) |
S119P |
probably damaging |
Het |
Or8h9 |
T |
C |
2: 86,789,665 (GRCm39) |
I46V |
possibly damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,517 (GRCm39) |
I105F |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,064,775 (GRCm39) |
E1630G |
unknown |
Het |
Ppp2r5e |
C |
T |
12: 75,516,533 (GRCm39) |
R218Q |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,589,894 (GRCm39) |
T2586A |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,290,840 (GRCm39) |
N633S |
probably benign |
Het |
Rab11fip2 |
T |
C |
19: 59,924,452 (GRCm39) |
N284S |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Ropn1 |
A |
G |
16: 34,497,675 (GRCm39) |
Q189R |
possibly damaging |
Het |
Rwdd2b |
A |
G |
16: 87,233,950 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
T |
13: 11,610,119 (GRCm39) |
S4236T |
probably benign |
Het |
Sigmar1 |
A |
G |
4: 41,741,251 (GRCm39) |
M1T |
probably null |
Het |
Sncg |
T |
A |
14: 34,095,268 (GRCm39) |
N79I |
probably benign |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,763,021 (GRCm39) |
G3213S |
probably damaging |
Het |
Uqcrc1 |
G |
A |
9: 108,776,929 (GRCm39) |
R77H |
probably damaging |
Het |
Vps13d |
A |
C |
4: 144,835,080 (GRCm39) |
L2756R |
possibly damaging |
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 |
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 |
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'- GCCCATGATTATCTTGGTGCC -3'
(R):5'- AAGTAAAACTGGCGAGCCATCTC -3'
Sequencing Primer
(F):5'- TATCTTGGTGCCCAATCCAAAATCAG -3'
(R):5'- TCTCGTCACCCAGACTAAGGTAG -3'
|
Posted On |
2015-10-08 |