Incidental Mutation 'IGL02718:2210408I21Rik'
| ID |
304855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77322991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 7
(Y7N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
[ENSMUST00000225605]
[ENSMUST00000225960]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168779
AA Change: Y7N
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: Y7N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
164 |
N/A |
INTRINSIC |
|
Pfam:DUF4495
|
515 |
832 |
1.6e-140 |
PFAM |
|
low complexity region
|
1241 |
1255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225012
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225605
AA Change: Y7N
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225960
AA Change: Y7N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225992
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
A |
G |
7: 30,399,329 (GRCm39) |
D41G |
probably damaging |
Het |
| Atf1 |
C |
A |
15: 100,152,100 (GRCm39) |
Q151K |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,497,934 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,237,049 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
A |
G |
15: 31,027,762 (GRCm39) |
S1229G |
probably damaging |
Het |
| Dcaf15 |
T |
A |
8: 84,825,005 (GRCm39) |
I476L |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,966,354 (GRCm39) |
I1108V |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,777,466 (GRCm39) |
H3694L |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,535 (GRCm39) |
D1838E |
probably benign |
Het |
| Dusp12 |
A |
T |
1: 170,708,226 (GRCm39) |
Y164N |
probably damaging |
Het |
| Ephx1 |
A |
G |
1: 180,827,351 (GRCm39) |
F101L |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,211,806 (GRCm39) |
C864F |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,453,858 (GRCm39) |
E96G |
possibly damaging |
Het |
| Glt1d1 |
C |
A |
5: 127,727,763 (GRCm39) |
F78L |
probably damaging |
Het |
| Gm9602 |
A |
T |
14: 15,932,620 (GRCm39) |
R21* |
probably null |
Het |
| Grip1 |
T |
A |
10: 119,911,420 (GRCm39) |
*713K |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,481,520 (GRCm39) |
|
probably null |
Het |
| Il31ra |
G |
A |
13: 112,666,903 (GRCm39) |
R392* |
probably null |
Het |
| L3hypdh |
T |
G |
12: 72,131,630 (GRCm39) |
S101R |
probably damaging |
Het |
| Lpar5 |
T |
A |
6: 125,059,207 (GRCm39) |
D309E |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,295,043 (GRCm39) |
Y406C |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,303,439 (GRCm39) |
I166M |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,539,483 (GRCm39) |
Y2759* |
probably null |
Het |
| Ncf1 |
A |
T |
5: 134,256,302 (GRCm39) |
|
probably null |
Het |
| Nek5 |
T |
G |
8: 22,587,479 (GRCm39) |
R314S |
probably benign |
Het |
| Nifk |
A |
C |
1: 118,255,362 (GRCm39) |
N38T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,968,684 (GRCm39) |
V2772M |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,912,182 (GRCm39) |
Y114N |
probably damaging |
Het |
| Or10z1 |
G |
T |
1: 174,078,273 (GRCm39) |
Y73* |
probably null |
Het |
| Or2b28 |
T |
C |
13: 21,531,554 (GRCm39) |
L152P |
probably damaging |
Het |
| Or2d3 |
A |
T |
7: 106,490,536 (GRCm39) |
M260K |
probably damaging |
Het |
| Or52r1c |
C |
A |
7: 102,734,790 (GRCm39) |
L22I |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,459 (GRCm39) |
I158M |
possibly damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,355,311 (GRCm39) |
E610G |
probably damaging |
Het |
| Pfas |
G |
T |
11: 68,890,971 (GRCm39) |
|
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,769,456 (GRCm39) |
S102P |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,348 (GRCm39) |
T1146I |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,510,640 (GRCm39) |
W74R |
probably damaging |
Het |
| Riok3 |
C |
A |
18: 12,286,053 (GRCm39) |
S427* |
probably null |
Het |
| Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,842 (GRCm39) |
D47G |
possibly damaging |
Het |
| Slc12a1 |
C |
T |
2: 125,002,999 (GRCm39) |
R177* |
probably null |
Het |
| Snai3 |
C |
A |
8: 123,182,861 (GRCm39) |
|
probably null |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Soat1 |
A |
T |
1: 156,268,999 (GRCm39) |
S151T |
probably benign |
Het |
| Spmip4 |
G |
T |
6: 50,561,367 (GRCm39) |
T184K |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,751,077 (GRCm39) |
E37G |
possibly damaging |
Het |
| Syt10 |
A |
G |
15: 89,698,282 (GRCm39) |
I354T |
probably damaging |
Het |
| Trip11 |
A |
C |
12: 101,852,284 (GRCm39) |
S593R |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,745,364 (GRCm39) |
E908G |
probably damaging |
Het |
| Yy1 |
T |
C |
12: 108,781,405 (GRCm39) |
F357L |
probably damaging |
Het |
|
| Other mutations in 2210408I21Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:2210408I21Rik
|
APN |
13 |
77,471,477 (GRCm39) |
splice site |
probably benign |
|
|
IGL01154:2210408I21Rik
|
APN |
13 |
77,429,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01461:2210408I21Rik
|
APN |
13 |
77,429,214 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01624:2210408I21Rik
|
APN |
13 |
77,341,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02033:2210408I21Rik
|
APN |
13 |
77,407,995 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02621:2210408I21Rik
|
APN |
13 |
77,408,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02823:2210408I21Rik
|
APN |
13 |
77,410,074 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02859:2210408I21Rik
|
APN |
13 |
77,415,818 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03006:2210408I21Rik
|
APN |
13 |
77,471,891 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03072:2210408I21Rik
|
APN |
13 |
77,408,116 (GRCm39) |
missense |
probably benign |
|
|
IGL03184:2210408I21Rik
|
APN |
13 |
77,471,570 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03275:2210408I21Rik
|
APN |
13 |
77,446,674 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
PIT4651001:2210408I21Rik
|
UTSW |
13 |
77,408,014 (GRCm39) |
missense |
probably benign |
|
|
R0226:2210408I21Rik
|
UTSW |
13 |
77,451,544 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0323:2210408I21Rik
|
UTSW |
13 |
77,446,674 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0614:2210408I21Rik
|
UTSW |
13 |
77,340,782 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0894:2210408I21Rik
|
UTSW |
13 |
77,471,726 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1165:2210408I21Rik
|
UTSW |
13 |
77,482,406 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1509:2210408I21Rik
|
UTSW |
13 |
77,340,766 (GRCm39) |
missense |
probably benign |
|
|
R1711:2210408I21Rik
|
UTSW |
13 |
77,418,039 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1714:2210408I21Rik
|
UTSW |
13 |
77,464,479 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1718:2210408I21Rik
|
UTSW |
13 |
77,393,489 (GRCm39) |
intron |
probably benign |
|
|
R1836:2210408I21Rik
|
UTSW |
13 |
77,471,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1893:2210408I21Rik
|
UTSW |
13 |
77,415,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2035:2210408I21Rik
|
UTSW |
13 |
77,760,761 (GRCm39) |
makesense |
probably null |
|
|
R2329:2210408I21Rik
|
UTSW |
13 |
77,451,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2897:2210408I21Rik
|
UTSW |
13 |
77,471,640 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3688:2210408I21Rik
|
UTSW |
13 |
77,415,968 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4153:2210408I21Rik
|
UTSW |
13 |
77,341,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4387:2210408I21Rik
|
UTSW |
13 |
77,464,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4388:2210408I21Rik
|
UTSW |
13 |
77,464,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4499:2210408I21Rik
|
UTSW |
13 |
77,464,646 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4614:2210408I21Rik
|
UTSW |
13 |
77,402,375 (GRCm39) |
splice site |
probably null |
|
|
R4798:2210408I21Rik
|
UTSW |
13 |
77,471,843 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4943:2210408I21Rik
|
UTSW |
13 |
77,393,446 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5045:2210408I21Rik
|
UTSW |
13 |
77,415,927 (GRCm39) |
splice site |
probably null |
|
|
R5387:2210408I21Rik
|
UTSW |
13 |
77,408,092 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5500:2210408I21Rik
|
UTSW |
13 |
77,451,508 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5686:2210408I21Rik
|
UTSW |
13 |
77,451,433 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6111:2210408I21Rik
|
UTSW |
13 |
77,476,021 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6135:2210408I21Rik
|
UTSW |
13 |
77,402,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6188:2210408I21Rik
|
UTSW |
13 |
77,331,850 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6388:2210408I21Rik
|
UTSW |
13 |
77,410,230 (GRCm39) |
missense |
probably benign |
|
|
R6588:2210408I21Rik
|
UTSW |
13 |
77,340,766 (GRCm39) |
missense |
probably benign |
|
|
R6632:2210408I21Rik
|
UTSW |
13 |
77,429,186 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6638:2210408I21Rik
|
UTSW |
13 |
77,451,521 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6755:2210408I21Rik
|
UTSW |
13 |
77,475,994 (GRCm39) |
missense |
probably benign |
|
|
R6971:2210408I21Rik
|
UTSW |
13 |
77,341,306 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7079:2210408I21Rik
|
UTSW |
13 |
77,402,323 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7130:2210408I21Rik
|
UTSW |
13 |
77,418,021 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7215:2210408I21Rik
|
UTSW |
13 |
77,471,690 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7272:2210408I21Rik
|
UTSW |
13 |
77,471,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7331:2210408I21Rik
|
UTSW |
13 |
77,331,728 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7561:2210408I21Rik
|
UTSW |
13 |
77,341,314 (GRCm39) |
missense |
probably benign |
|
|
R7684:2210408I21Rik
|
UTSW |
13 |
77,760,659 (GRCm39) |
nonsense |
probably null |
|
|
R7728:2210408I21Rik
|
UTSW |
13 |
77,464,596 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7881:2210408I21Rik
|
UTSW |
13 |
77,471,685 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7963:2210408I21Rik
|
UTSW |
13 |
77,340,673 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8008:2210408I21Rik
|
UTSW |
13 |
77,429,234 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8024:2210408I21Rik
|
UTSW |
13 |
77,760,713 (GRCm39) |
missense |
probably benign |
|
|
R8170:2210408I21Rik
|
UTSW |
13 |
77,411,713 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8201:2210408I21Rik
|
UTSW |
13 |
77,341,278 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8255:2210408I21Rik
|
UTSW |
13 |
77,415,850 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8296:2210408I21Rik
|
UTSW |
13 |
77,415,896 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8476:2210408I21Rik
|
UTSW |
13 |
77,410,020 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8526:2210408I21Rik
|
UTSW |
13 |
77,417,935 (GRCm39) |
nonsense |
probably null |
|
|
R8746:2210408I21Rik
|
UTSW |
13 |
77,451,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8812:2210408I21Rik
|
UTSW |
13 |
77,480,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8870:2210408I21Rik
|
UTSW |
13 |
77,471,840 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8885:2210408I21Rik
|
UTSW |
13 |
77,471,525 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8910:2210408I21Rik
|
UTSW |
13 |
77,471,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8911:2210408I21Rik
|
UTSW |
13 |
77,429,234 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8965:2210408I21Rik
|
UTSW |
13 |
77,760,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8968:2210408I21Rik
|
UTSW |
13 |
77,480,429 (GRCm39) |
nonsense |
probably null |
|
|
R8989:2210408I21Rik
|
UTSW |
13 |
77,760,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9163:2210408I21Rik
|
UTSW |
13 |
77,393,400 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9378:2210408I21Rik
|
UTSW |
13 |
77,471,735 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9478:2210408I21Rik
|
UTSW |
13 |
77,451,573 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9523:2210408I21Rik
|
UTSW |
13 |
77,407,988 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9595:2210408I21Rik
|
UTSW |
13 |
77,464,566 (GRCm39) |
missense |
probably benign |
|
|
X0066:2210408I21Rik
|
UTSW |
13 |
77,331,759 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Z1088:2210408I21Rik
|
UTSW |
13 |
77,323,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation