Incidental Mutation 'R5065:2310009B15Rik'
ID |
388280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2310009B15Rik
|
Ensembl Gene |
ENSMUSG00000079283 |
Gene Name |
RIKEN cDNA 2310009B15 gene |
Synonyms |
|
MMRRC Submission |
042655-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R5065 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
138779721-138784590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 138779893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 120
(N120Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046870]
[ENSMUST00000093486]
[ENSMUST00000112025]
[ENSMUST00000112030]
[ENSMUST00000193374]
|
AlphaFold |
A0A0A6YWI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046870
|
SMART Domains |
Protein: ENSMUSP00000036480 Gene: ENSMUSG00000019230
Domain | Start | End | E-Value | Type |
LIM
|
61 |
114 |
4.48e-17 |
SMART |
LIM
|
123 |
177 |
8.04e-19 |
SMART |
HOX
|
258 |
320 |
8.07e-22 |
SMART |
low complexity region
|
344 |
368 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093486
|
SMART Domains |
Protein: ENSMUSP00000091198 Gene: ENSMUSG00000019230
Domain | Start | End | E-Value | Type |
LIM
|
61 |
114 |
4.48e-17 |
SMART |
LIM
|
123 |
177 |
8.04e-19 |
SMART |
HOX
|
258 |
310 |
1.89e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112025
AA Change: N120Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112030
|
SMART Domains |
Protein: ENSMUSP00000107661 Gene: ENSMUSG00000019230
Domain | Start | End | E-Value | Type |
LIM
|
61 |
114 |
4.48e-17 |
SMART |
LIM
|
123 |
177 |
8.04e-19 |
SMART |
HOX
|
258 |
310 |
1.89e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193374
|
SMART Domains |
Protein: ENSMUSP00000141565 Gene: ENSMUSG00000079283
Domain | Start | End | E-Value | Type |
low complexity region
|
75 |
89 |
N/A |
INTRINSIC |
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195075
|
Meta Mutation Damage Score |
0.5441 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
G |
A |
5: 99,382,432 (GRCm39) |
T272M |
probably benign |
Het |
Aldh9a1 |
A |
G |
1: 167,180,128 (GRCm39) |
E74G |
probably damaging |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Bcl2l10 |
A |
T |
9: 75,255,261 (GRCm39) |
E26V |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,457,453 (GRCm39) |
H1166Q |
probably benign |
Het |
Dennd2a |
C |
A |
6: 39,472,110 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
G |
9: 106,832,883 (GRCm39) |
F129L |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,462,359 (GRCm39) |
I377N |
probably damaging |
Het |
Gm8674 |
T |
C |
13: 50,056,613 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl2 |
A |
T |
1: 183,207,580 (GRCm39) |
H433L |
probably benign |
Het |
Hsfy2 |
G |
A |
1: 56,675,626 (GRCm39) |
Q304* |
probably null |
Het |
Ighg2c |
T |
C |
12: 113,251,708 (GRCm39) |
I140V |
unknown |
Het |
Kmt2a |
T |
C |
9: 44,753,997 (GRCm39) |
|
probably benign |
Het |
Map3k5 |
A |
G |
10: 19,958,213 (GRCm39) |
E671G |
probably damaging |
Het |
Map6 |
A |
G |
7: 98,985,917 (GRCm39) |
D607G |
probably benign |
Het |
Mroh4 |
C |
T |
15: 74,500,119 (GRCm39) |
|
probably null |
Het |
Or10g6 |
A |
G |
9: 39,934,546 (GRCm39) |
I286V |
probably benign |
Het |
Pcsk6 |
A |
G |
7: 65,560,047 (GRCm39) |
D124G |
possibly damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,445,689 (GRCm39) |
N3790K |
possibly damaging |
Het |
Polr3b |
C |
A |
10: 84,468,402 (GRCm39) |
N129K |
probably benign |
Het |
Ptpn23 |
A |
T |
9: 110,227,256 (GRCm39) |
L31Q |
possibly damaging |
Het |
Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,218,324 (GRCm39) |
I338V |
probably benign |
Het |
Slc39a7 |
A |
G |
17: 34,250,033 (GRCm39) |
|
probably benign |
Het |
Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
Sntg1 |
A |
G |
1: 8,433,663 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
A |
T |
10: 9,646,295 (GRCm39) |
L780Q |
probably damaging |
Het |
Tacr1 |
G |
A |
6: 82,531,859 (GRCm39) |
V252M |
possibly damaging |
Het |
Tdrp |
T |
C |
8: 14,003,791 (GRCm39) |
E182G |
probably damaging |
Het |
Vmn1r58 |
A |
G |
7: 5,413,834 (GRCm39) |
I132T |
probably benign |
Het |
Wap |
A |
T |
11: 6,586,840 (GRCm39) |
N86K |
probably damaging |
Het |
|
Other mutations in 2310009B15Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02514:2310009B15Rik
|
APN |
1 |
138,779,909 (GRCm39) |
nonsense |
probably null |
|
R1992:2310009B15Rik
|
UTSW |
1 |
138,781,380 (GRCm39) |
missense |
probably damaging |
0.99 |
R2351:2310009B15Rik
|
UTSW |
1 |
138,779,846 (GRCm39) |
nonsense |
probably null |
|
R4748:2310009B15Rik
|
UTSW |
1 |
138,784,394 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4887:2310009B15Rik
|
UTSW |
1 |
138,779,903 (GRCm39) |
nonsense |
probably null |
|
R5858:2310009B15Rik
|
UTSW |
1 |
138,781,343 (GRCm39) |
missense |
probably benign |
0.08 |
R6568:2310009B15Rik
|
UTSW |
1 |
138,779,872 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6957:2310009B15Rik
|
UTSW |
1 |
138,779,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R7079:2310009B15Rik
|
UTSW |
1 |
138,779,865 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7213:2310009B15Rik
|
UTSW |
1 |
138,781,367 (GRCm39) |
missense |
probably damaging |
1.00 |
RF019:2310009B15Rik
|
UTSW |
1 |
138,784,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGTGCATCTTGTGGACCTTC -3'
(R):5'- GAAGTGGTTCCTGGATCCTAATTAGG -3'
Sequencing Primer
(F):5'- CGTGCATCTTGTGGACCTTCTTTTG -3'
(R):5'- GGGCTGCTTAACCAAAGTTC -3'
|
Posted On |
2016-06-06 |