Incidental Mutation 'R7561:2210408I21Rik'
ID |
585152 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2210408I21Rik
|
Ensembl Gene |
ENSMUSG00000071252 |
Gene Name |
RIKEN cDNA 2210408I21 gene |
Synonyms |
|
MMRRC Submission |
045654-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7561 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 77341314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 314
(N314K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
[ENSMUST00000225605]
[ENSMUST00000225760]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168779
AA Change: N314K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127449 Gene: ENSMUSG00000071252 AA Change: N314K
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 |
probably benign
Transcript: ENSMUST00000225605
AA Change: N314K
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225760
AA Change: N54K
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430005L14Rik |
T |
A |
4: 154,045,097 (GRCm39) |
I80N |
probably benign |
Het |
Abca2 |
A |
G |
2: 25,336,707 (GRCm39) |
H2271R |
probably damaging |
Het |
Acad8 |
T |
C |
9: 26,890,538 (GRCm39) |
I257V |
probably benign |
Het |
Acot12 |
A |
T |
13: 91,918,243 (GRCm39) |
T179S |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,386,741 (GRCm39) |
R1155G |
possibly damaging |
Het |
Adcy9 |
C |
T |
16: 4,236,028 (GRCm39) |
C461Y |
probably damaging |
Het |
Adgrf1 |
G |
A |
17: 43,622,000 (GRCm39) |
V746I |
possibly damaging |
Het |
Agbl1 |
C |
A |
7: 76,348,509 (GRCm39) |
Q869K |
unknown |
Het |
AI837181 |
T |
G |
19: 5,476,491 (GRCm39) |
V218G |
probably damaging |
Het |
Alg9 |
T |
C |
9: 50,754,074 (GRCm39) |
S585P |
possibly damaging |
Het |
Arhgef38 |
T |
C |
3: 132,866,489 (GRCm39) |
Q216R |
|
Het |
Asb4 |
A |
T |
6: 5,430,968 (GRCm39) |
H401L |
possibly damaging |
Het |
Atg7 |
G |
T |
6: 114,650,002 (GRCm39) |
A60S |
possibly damaging |
Het |
Atp10a |
T |
A |
7: 58,476,881 (GRCm39) |
C1199S |
probably damaging |
Het |
Blm |
G |
A |
7: 80,152,276 (GRCm39) |
A557V |
probably damaging |
Het |
Cbln1 |
A |
T |
8: 88,198,624 (GRCm39) |
M82K |
probably benign |
Het |
Ccdc183 |
T |
G |
2: 25,501,529 (GRCm39) |
I293L |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,703,463 (GRCm39) |
S3035P |
unknown |
Het |
Cux2 |
A |
T |
5: 122,017,931 (GRCm39) |
S206T |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,161,425 (GRCm39) |
D355G |
probably benign |
Het |
Dhrs2 |
A |
G |
14: 55,474,698 (GRCm39) |
H111R |
probably benign |
Het |
Eif3b |
T |
G |
5: 140,428,109 (GRCm39) |
D781E |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fermt1 |
A |
T |
2: 132,758,008 (GRCm39) |
I469N |
probably benign |
Het |
Fgf20 |
G |
T |
8: 40,732,975 (GRCm39) |
N154K |
possibly damaging |
Het |
Fndc10 |
T |
A |
4: 155,779,328 (GRCm39) |
V124E |
probably damaging |
Het |
Fra10ac1 |
T |
C |
19: 38,210,324 (GRCm39) |
D13G |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 35,008,800 (GRCm39) |
S74P |
probably damaging |
Het |
Gramd1b |
G |
A |
9: 40,312,911 (GRCm39) |
T19I |
unknown |
Het |
Grm8 |
T |
C |
6: 27,429,524 (GRCm39) |
T457A |
probably benign |
Het |
Gucy2g |
C |
A |
19: 55,194,772 (GRCm39) |
V882L |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,429,288 (GRCm39) |
R811H |
possibly damaging |
Het |
Hk1 |
C |
T |
10: 62,116,807 (GRCm39) |
|
probably null |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Il10ra |
T |
A |
9: 45,167,117 (GRCm39) |
D480V |
probably benign |
Het |
Il18rap |
A |
T |
1: 40,563,537 (GRCm39) |
H22L |
probably benign |
Het |
Inpp5a |
T |
A |
7: 139,147,338 (GRCm39) |
I321N |
probably damaging |
Het |
Insyn1 |
A |
G |
9: 58,406,687 (GRCm39) |
D199G |
probably damaging |
Het |
Kat2b |
T |
G |
17: 53,948,286 (GRCm39) |
L352R |
probably benign |
Het |
Katnip |
C |
T |
7: 125,441,894 (GRCm39) |
S627L |
probably benign |
Het |
Kcna1 |
A |
T |
6: 126,619,108 (GRCm39) |
V404E |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,328,712 (GRCm39) |
V1110E |
possibly damaging |
Het |
Moxd2 |
C |
T |
6: 40,864,337 (GRCm39) |
R31H |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,225,388 (GRCm39) |
N1368K |
probably damaging |
Het |
Mpzl3 |
G |
T |
9: 44,966,610 (GRCm39) |
V24F |
probably benign |
Het |
Mybph |
G |
A |
1: 134,121,465 (GRCm39) |
|
probably null |
Het |
Ncam1 |
G |
T |
9: 49,476,242 (GRCm39) |
D282E |
probably damaging |
Het |
Ntrk2 |
G |
A |
13: 59,009,202 (GRCm39) |
C331Y |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,964,434 (GRCm39) |
C1339* |
probably null |
Het |
Or3a1d |
T |
C |
11: 74,238,436 (GRCm39) |
|
probably benign |
Het |
Or5b98 |
T |
C |
19: 12,931,403 (GRCm39) |
V150A |
probably benign |
Het |
Or8k33 |
T |
C |
2: 86,383,661 (GRCm39) |
D269G |
probably benign |
Het |
Osbpl6 |
C |
A |
2: 76,416,498 (GRCm39) |
T672N |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,662,783 (GRCm39) |
|
probably null |
Het |
Perm1 |
A |
G |
4: 156,303,217 (GRCm39) |
N587S |
probably benign |
Het |
Pex7 |
A |
T |
10: 19,770,012 (GRCm39) |
C165* |
probably null |
Het |
Pik3r4 |
A |
G |
9: 105,564,446 (GRCm39) |
T1347A |
possibly damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,942,008 (GRCm39) |
D933G |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,332,545 (GRCm39) |
F2586I |
|
Het |
Scn10a |
A |
G |
9: 119,523,390 (GRCm39) |
M1T |
probably null |
Het |
Sdhaf3 |
T |
A |
6: 6,956,079 (GRCm39) |
L18Q |
not run |
Het |
Septin7 |
A |
G |
9: 25,209,151 (GRCm39) |
E256G |
possibly damaging |
Het |
Slc35b2 |
A |
G |
17: 45,877,727 (GRCm39) |
T236A |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,347,556 (GRCm39) |
G766R |
probably damaging |
Het |
Slco6c1 |
G |
T |
1: 97,000,691 (GRCm39) |
S537Y |
probably damaging |
Het |
Srp68 |
T |
C |
11: 116,139,593 (GRCm39) |
E452G |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,919,229 (GRCm39) |
M382K |
probably benign |
Het |
Tas2r131 |
A |
G |
6: 132,933,921 (GRCm39) |
L296P |
probably benign |
Het |
Tlr9 |
A |
G |
9: 106,103,148 (GRCm39) |
E813G |
probably benign |
Het |
Trmt44 |
T |
C |
5: 35,715,336 (GRCm39) |
E659G |
possibly damaging |
Het |
Ttc21b |
G |
A |
2: 66,047,548 (GRCm39) |
A849V |
possibly damaging |
Het |
Unc45a |
G |
T |
7: 79,981,334 (GRCm39) |
S489R |
possibly damaging |
Het |
Xrn1 |
T |
C |
9: 95,881,511 (GRCm39) |
V795A |
probably benign |
Het |
Zbtb22 |
A |
T |
17: 34,136,952 (GRCm39) |
T366S |
probably benign |
Het |
Zcchc10 |
T |
A |
11: 53,215,545 (GRCm39) |
H6Q |
probably benign |
Het |
Zfp60 |
A |
G |
7: 27,447,955 (GRCm39) |
K208E |
probably damaging |
Het |
Zfp780b |
A |
T |
7: 27,664,037 (GRCm39) |
C173S |
possibly damaging |
Het |
Zfp786 |
C |
A |
6: 47,796,667 (GRCm39) |
R757L |
probably benign |
Het |
Zfp936 |
G |
A |
7: 42,839,339 (GRCm39) |
A269T |
probably damaging |
Het |
Zfp976 |
T |
C |
7: 42,265,701 (GRCm39) |
Y29C |
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 |
IGL02718:2210408I21Rik
|
APN |
13 |
77,322,991 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTTCGTGCAACAGAGAATCAG -3'
(R):5'- ACATGAGCGGAAAACTCTTTCAAG -3'
Sequencing Primer
(F):5'- GTGTGTGGATACCAAAGTACTATGC -3'
(R):5'- CAAGAGTTGATTTACGCTCTGG -3'
|
Posted On |
2019-10-17 |