Incidental Mutation 'IGL03261:2310022A10Rik'
ID |
414821 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
2310022A10Rik
|
Ensembl Gene |
ENSMUSG00000049643 |
Gene Name |
RIKEN cDNA 2310022A10 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
IGL03261
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
27252658-27281524 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to G
at 27279863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 281
(Y281*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067386]
[ENSMUST00000187032]
[ENSMUST00000187960]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000067386
AA Change: Y281*
|
SMART Domains |
Protein: ENSMUSP00000066803 Gene: ENSMUSG00000049643 AA Change: Y281*
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: ENSMUST00000186501
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187032
AA Change: Y275*
|
SMART Domains |
Protein: ENSMUSP00000139423 Gene: ENSMUSG00000049643 AA Change: Y275*
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 null
Transcript: ENSMUST00000187960
AA Change: Y281*
|
SMART Domains |
Protein: ENSMUSP00000140651 Gene: ENSMUSG00000049643 AA Change: Y281*
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 |
probably benign
Transcript: ENSMUST00000190656
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 90,030,756 (GRCm39) |
|
probably benign |
Het |
Afp |
T |
C |
5: 90,639,610 (GRCm39) |
|
probably null |
Het |
Ap1g2 |
T |
C |
14: 55,337,987 (GRCm39) |
T634A |
probably benign |
Het |
Cidec |
A |
G |
6: 113,410,133 (GRCm39) |
V32A |
probably benign |
Het |
Dip2a |
G |
A |
10: 76,140,982 (GRCm39) |
P315S |
possibly damaging |
Het |
Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,067,849 (GRCm39) |
Y1784C |
probably damaging |
Het |
Mmp21 |
A |
G |
7: 133,276,403 (GRCm39) |
V480A |
probably benign |
Het |
Nek4 |
C |
T |
14: 30,697,247 (GRCm39) |
T471I |
probably benign |
Het |
Nr4a2 |
A |
G |
2: 57,000,199 (GRCm39) |
V299A |
probably benign |
Het |
Or14j8 |
A |
T |
17: 38,263,697 (GRCm39) |
S73T |
possibly damaging |
Het |
Or6c5 |
A |
G |
10: 129,074,272 (GRCm39) |
T85A |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,225,552 (GRCm38) |
D505G |
probably damaging |
Het |
Rag2 |
A |
G |
2: 101,460,608 (GRCm39) |
D306G |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,746,426 (GRCm39) |
S38T |
possibly damaging |
Het |
Scart2 |
A |
G |
7: 139,874,746 (GRCm39) |
H408R |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Slx4ip |
A |
T |
2: 136,888,659 (GRCm39) |
R113S |
probably benign |
Het |
Smyd5 |
T |
A |
6: 85,409,000 (GRCm39) |
M5K |
probably benign |
Het |
Stkld1 |
A |
T |
2: 26,842,789 (GRCm39) |
H587L |
probably benign |
Het |
Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
Tex16 |
C |
A |
X: 111,028,552 (GRCm39) |
D350E |
possibly damaging |
Het |
Tex38 |
T |
C |
4: 115,637,723 (GRCm39) |
K27E |
possibly damaging |
Het |
Trdv4 |
T |
C |
14: 54,312,875 (GRCm39) |
L83P |
possibly damaging |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Vmn1r120 |
A |
G |
7: 20,787,450 (GRCm39) |
L87P |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,648,733 (GRCm39) |
D916G |
possibly damaging |
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 |
R0305:2310022A10Rik
|
UTSW |
7 |
27,274,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R1080:2310022A10Rik
|
UTSW |
7 |
27,265,109 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2016-08-02 |