Incidental Mutation 'R8870:2210408I21Rik'
ID |
676233 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2210408I21Rik
|
Ensembl Gene |
ENSMUSG00000071252 |
Gene Name |
RIKEN cDNA 2210408I21 gene |
Synonyms |
|
MMRRC Submission |
068684-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8870 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77471840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 1082
(N1082Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168779
AA Change: N1082Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127449 Gene: ENSMUSG00000071252 AA Change: N1082Y
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (76/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930444P10Rik |
G |
A |
1: 16,136,451 (GRCm39) |
Q122* |
probably null |
Het |
Afg2a |
A |
G |
3: 37,502,661 (GRCm39) |
N607D |
probably benign |
Het |
Ak8 |
C |
T |
2: 28,625,602 (GRCm39) |
T215M |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,614,074 (GRCm39) |
I210F |
probably benign |
Het |
Atg9b |
A |
G |
5: 24,592,032 (GRCm39) |
F656L |
probably damaging |
Het |
Bscl2 |
T |
C |
19: 8,824,793 (GRCm39) |
M292T |
probably benign |
Het |
Cachd1 |
G |
T |
4: 100,754,978 (GRCm39) |
C143F |
probably damaging |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Ccnb1ip1 |
C |
T |
14: 51,029,450 (GRCm39) |
G204E |
probably benign |
Het |
Ccr1 |
T |
A |
9: 123,764,022 (GRCm39) |
L169F |
probably benign |
Het |
Cdc42bpg |
A |
G |
19: 6,364,550 (GRCm39) |
N593D |
possibly damaging |
Het |
Cdh20 |
T |
C |
1: 104,873,048 (GRCm39) |
S265P |
probably damaging |
Het |
Cenpk |
A |
G |
13: 104,367,365 (GRCm39) |
E67G |
probably damaging |
Het |
Cep76 |
A |
T |
18: 67,773,190 (GRCm39) |
I36K |
probably benign |
Het |
Clock |
A |
T |
5: 76,383,632 (GRCm39) |
I507N |
probably benign |
Het |
Cpne1 |
T |
C |
2: 155,920,873 (GRCm39) |
T110A |
probably benign |
Het |
Crybg2 |
A |
T |
4: 133,818,525 (GRCm39) |
E1427V |
possibly damaging |
Het |
Ctu1 |
A |
C |
7: 43,324,746 (GRCm39) |
K62Q |
probably damaging |
Het |
Dnai4 |
C |
T |
4: 102,944,529 (GRCm39) |
|
probably null |
Het |
Drd5 |
C |
A |
5: 38,477,747 (GRCm39) |
Q247K |
possibly damaging |
Het |
Ect2l |
A |
T |
10: 18,014,608 (GRCm39) |
L808* |
probably null |
Het |
Efcab3 |
A |
G |
11: 104,791,500 (GRCm39) |
T2905A |
probably benign |
Het |
Ficd |
A |
T |
5: 113,876,248 (GRCm39) |
D141V |
probably damaging |
Het |
Fnbp1 |
A |
G |
2: 30,938,222 (GRCm39) |
Y148H |
|
Het |
Gm49368 |
A |
G |
7: 127,700,685 (GRCm39) |
K485R |
probably benign |
Het |
Gpr75 |
C |
A |
11: 30,841,860 (GRCm39) |
A255D |
probably benign |
Het |
Hcrtr2 |
G |
T |
9: 76,153,666 (GRCm39) |
A242D |
probably damaging |
Het |
Iapp |
G |
T |
6: 142,244,602 (GRCm39) |
V10F |
probably benign |
Het |
Ikzf2 |
A |
G |
1: 69,722,417 (GRCm39) |
S31P |
possibly damaging |
Het |
Il18rap |
G |
A |
1: 40,564,280 (GRCm39) |
|
probably benign |
Het |
Irak2 |
A |
T |
6: 113,663,902 (GRCm39) |
N423Y |
probably damaging |
Het |
Itpkb |
A |
G |
1: 180,159,744 (GRCm39) |
|
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,365,172 (GRCm39) |
I874M |
probably damaging |
Het |
Kif26b |
G |
T |
1: 178,692,594 (GRCm39) |
V512F |
probably damaging |
Het |
Lhx6 |
G |
A |
2: 35,995,232 (GRCm39) |
|
probably benign |
Het |
Lrfn1 |
A |
G |
7: 28,158,918 (GRCm39) |
E279G |
possibly damaging |
Het |
Masp1 |
A |
C |
16: 23,314,882 (GRCm39) |
D126E |
probably damaging |
Het |
Mef2a |
T |
C |
7: 66,890,176 (GRCm39) |
I299V |
probably benign |
Het |
Midn |
A |
G |
10: 79,985,939 (GRCm39) |
S10G |
probably damaging |
Het |
Mrps12 |
A |
T |
7: 28,439,361 (GRCm39) |
L118Q |
probably damaging |
Het |
Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
Mzf1 |
A |
G |
7: 12,786,836 (GRCm39) |
V78A |
probably benign |
Het |
Ncoa6 |
A |
G |
2: 155,263,078 (GRCm39) |
V452A |
probably damaging |
Het |
Neb |
A |
G |
2: 52,051,481 (GRCm39) |
Y6600H |
probably damaging |
Het |
Nlgn2 |
A |
G |
11: 69,716,297 (GRCm39) |
L748P |
possibly damaging |
Het |
Nnmt |
A |
T |
9: 48,514,801 (GRCm39) |
L72H |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 90,171,560 (GRCm39) |
T964A |
probably benign |
Het |
Or12k7 |
A |
G |
2: 36,958,982 (GRCm39) |
I222V |
probably benign |
Het |
Or1e35 |
T |
G |
11: 73,797,725 (GRCm39) |
M198L |
probably benign |
Het |
Or2y16 |
T |
A |
11: 49,335,350 (GRCm39) |
V224E |
probably damaging |
Het |
Or4k35 |
T |
A |
2: 111,100,464 (GRCm39) |
I83F |
possibly damaging |
Het |
Or5h27 |
G |
A |
16: 59,006,130 (GRCm39) |
P239S |
unknown |
Het |
Or8c11 |
A |
G |
9: 38,289,720 (GRCm39) |
N175S |
probably benign |
Het |
Or8g33 |
A |
G |
9: 39,337,548 (GRCm39) |
V273A |
probably damaging |
Het |
Osbpl11 |
A |
G |
16: 33,034,850 (GRCm39) |
N280D |
probably benign |
Het |
Peg10 |
A |
T |
6: 4,754,825 (GRCm39) |
Y202F |
probably damaging |
Het |
Pick1 |
A |
G |
15: 79,140,107 (GRCm39) |
R469G |
unknown |
Het |
Rev3l |
A |
G |
10: 39,738,786 (GRCm39) |
I2847V |
probably damaging |
Het |
Rmc1 |
A |
G |
18: 12,321,618 (GRCm39) |
E473G |
probably benign |
Het |
Rnaseh2b |
T |
A |
14: 62,569,617 (GRCm39) |
L18Q |
probably damaging |
Het |
Rpl19 |
A |
G |
11: 97,920,615 (GRCm39) |
Y122C |
probably benign |
Het |
Selp |
A |
G |
1: 163,964,787 (GRCm39) |
Y483C |
probably damaging |
Het |
Setd2 |
T |
A |
9: 110,423,321 (GRCm39) |
F347L |
|
Het |
Snx14 |
A |
G |
9: 88,295,541 (GRCm39) |
I208T |
probably benign |
Het |
Spag16 |
T |
A |
1: 70,036,017 (GRCm39) |
F348L |
probably benign |
Het |
Spata22 |
A |
T |
11: 73,231,091 (GRCm39) |
N115I |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,068,818 (GRCm39) |
V322A |
probably benign |
Het |
Stc1 |
A |
T |
14: 69,275,825 (GRCm39) |
H206L |
probably benign |
Het |
Tas2r129 |
A |
G |
6: 132,928,522 (GRCm39) |
D153G |
probably damaging |
Het |
Tmem196 |
T |
A |
12: 119,982,268 (GRCm39) |
N167K |
possibly damaging |
Het |
Tmpo |
T |
C |
10: 90,987,581 (GRCm39) |
T356A |
probably damaging |
Het |
Tnks |
A |
G |
8: 35,314,433 (GRCm39) |
|
probably null |
Het |
Ttbk1 |
A |
C |
17: 46,781,661 (GRCm39) |
L364R |
probably damaging |
Het |
Vmn1r176 |
A |
T |
7: 23,534,480 (GRCm39) |
N224K |
probably damaging |
Het |
Vmn1r36 |
T |
A |
6: 66,693,720 (GRCm39) |
M52L |
probably benign |
Het |
Vmn2r93 |
A |
T |
17: 18,525,320 (GRCm39) |
H326L |
possibly damaging |
Het |
Wrn |
A |
T |
8: 33,819,220 (GRCm39) |
M244K |
probably benign |
Het |
Zcchc24 |
C |
T |
14: 25,757,578 (GRCm39) |
A102T |
probably benign |
Het |
Zfp1010 |
T |
A |
2: 176,957,312 (GRCm39) |
Q62L |
probably benign |
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 |
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 |
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'- AATTGAAGAAAGCTGGCCTGC -3'
(R):5'- TGCTTCTCAATGGTCCTGTG -3'
Sequencing Primer
(F):5'- CTGGCCTGCTTGTCTGGAAC -3'
(R):5'- TGCTGCCCATCTGACAA -3'
|
Posted On |
2021-07-15 |