Incidental Mutation 'R1080:2310022A10Rik'
ID |
85824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2310022A10Rik
|
Ensembl Gene |
ENSMUSG00000049643 |
Gene Name |
RIKEN cDNA 2310022A10 gene |
Synonyms |
|
MMRRC Submission |
039166-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
R1080 (G1)
|
Quality Score |
196 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
27252658-27281524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27265109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 87
(N87S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139696
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067386]
[ENSMUST00000187032]
[ENSMUST00000187960]
[ENSMUST00000191126]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067386
AA Change: N113S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066803 Gene: ENSMUSG00000049643 AA Change: N113S
Domain | Start | End | E-Value | Type |
Blast:SAM
|
34 |
100 |
5e-20 |
BLAST |
SCOP:d1b4fa_
|
54 |
100 |
7e-5 |
SMART |
low complexity region
|
164 |
176 |
N/A |
INTRINSIC |
low complexity region
|
268 |
277 |
N/A |
INTRINSIC |
low complexity region
|
300 |
325 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186826
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187032
AA Change: N107S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139423 Gene: ENSMUSG00000049643 AA Change: N107S
Domain | Start | End | E-Value | Type |
Blast:SAM
|
28 |
92 |
4e-20 |
BLAST |
SCOP:d1b4fa_
|
48 |
94 |
6e-5 |
SMART |
low complexity region
|
158 |
170 |
N/A |
INTRINSIC |
low complexity region
|
262 |
271 |
N/A |
INTRINSIC |
low complexity region
|
294 |
319 |
N/A |
INTRINSIC |
low complexity region
|
378 |
386 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187960
AA Change: N113S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140651 Gene: ENSMUSG00000049643 AA Change: N113S
Domain | Start | End | E-Value | Type |
Blast:SAM
|
34 |
98 |
4e-20 |
BLAST |
SCOP:d1b4fa_
|
54 |
100 |
6e-5 |
SMART |
low complexity region
|
164 |
176 |
N/A |
INTRINSIC |
low complexity region
|
268 |
277 |
N/A |
INTRINSIC |
low complexity region
|
300 |
325 |
N/A |
INTRINSIC |
low complexity region
|
384 |
392 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000190656
AA Change: N9S
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191126
AA Change: N87S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139696 Gene: ENSMUSG00000049643 AA Change: N87S
Domain | Start | End | E-Value | Type |
Blast:SAM
|
8 |
74 |
1e-22 |
BLAST |
SCOP:d1b4fa_
|
28 |
74 |
4e-5 |
SMART |
low complexity region
|
138 |
150 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
Akp3 |
T |
A |
1: 87,054,723 (GRCm39) |
F353I |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
Klhdc8b |
T |
C |
9: 108,326,837 (GRCm39) |
N175S |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
Mnat1 |
T |
C |
12: 73,319,292 (GRCm39) |
F305S |
probably damaging |
Het |
Nck2 |
T |
C |
1: 43,572,741 (GRCm39) |
V5A |
probably benign |
Het |
Nkd1 |
T |
A |
8: 89,318,647 (GRCm39) |
M428K |
probably benign |
Het |
Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
Zfp809 |
T |
G |
9: 22,146,405 (GRCm39) |
D31E |
probably damaging |
Het |
Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,924,186 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in 2310022A10Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02292:2310022A10Rik
|
APN |
7 |
27,263,982 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03261:2310022A10Rik
|
APN |
7 |
27,279,863 (GRCm39) |
nonsense |
probably null |
|
R0305:2310022A10Rik
|
UTSW |
7 |
27,274,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:2310022A10Rik
|
UTSW |
7 |
27,260,022 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1773:2310022A10Rik
|
UTSW |
7 |
27,280,020 (GRCm39) |
missense |
probably damaging |
0.98 |
R4171:2310022A10Rik
|
UTSW |
7 |
27,265,109 (GRCm39) |
missense |
probably benign |
|
R4583:2310022A10Rik
|
UTSW |
7 |
27,274,017 (GRCm39) |
missense |
unknown |
|
R4781:2310022A10Rik
|
UTSW |
7 |
27,271,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R4806:2310022A10Rik
|
UTSW |
7 |
27,265,070 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4998:2310022A10Rik
|
UTSW |
7 |
27,271,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:2310022A10Rik
|
UTSW |
7 |
27,255,946 (GRCm39) |
missense |
probably benign |
0.04 |
R5007:2310022A10Rik
|
UTSW |
7 |
27,278,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R5008:2310022A10Rik
|
UTSW |
7 |
27,278,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:2310022A10Rik
|
UTSW |
7 |
27,278,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R6119:2310022A10Rik
|
UTSW |
7 |
27,265,138 (GRCm39) |
nonsense |
probably null |
|
R6991:2310022A10Rik
|
UTSW |
7 |
27,279,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R7014:2310022A10Rik
|
UTSW |
7 |
27,278,198 (GRCm39) |
nonsense |
probably null |
|
R7519:2310022A10Rik
|
UTSW |
7 |
27,274,155 (GRCm39) |
missense |
|
|
R7787:2310022A10Rik
|
UTSW |
7 |
27,263,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R8244:2310022A10Rik
|
UTSW |
7 |
27,271,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R8525:2310022A10Rik
|
UTSW |
7 |
27,255,936 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9246:2310022A10Rik
|
UTSW |
7 |
27,279,961 (GRCm39) |
missense |
probably benign |
0.06 |
R9500:2310022A10Rik
|
UTSW |
7 |
27,265,091 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTTCCTTTTAGCCCAGAGCAG -3'
(R):5'- TATGAGCAGCCACTCCTCACTAGC -3'
Sequencing Primer
(F):5'- tggctcagacgttaagtgc -3'
(R):5'- AGCCACTCCTCACTAGCTTATTC -3'
|
Posted On |
2013-11-18 |