Incidental Mutation 'R8170:2210408I21Rik'
ID |
634061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2210408I21Rik
|
Ensembl Gene |
ENSMUSG00000071252 |
Gene Name |
RIKEN cDNA 2210408I21 gene |
Synonyms |
|
MMRRC Submission |
067596-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8170 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77411713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 595
(V595A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168779
AA Change: V595A
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000127449 Gene: ENSMUSG00000071252 AA Change: V595A
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: 98.7%
|
Validation Efficiency |
100% (76/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
A |
G |
5: 138,645,315 (GRCm39) |
E400G |
possibly damaging |
Het |
Abca16 |
C |
T |
7: 120,065,005 (GRCm39) |
T554I |
probably damaging |
Het |
Acadm |
T |
A |
3: 153,650,035 (GRCm39) |
R10W |
possibly damaging |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,023,048 (GRCm39) |
W120R |
probably damaging |
Het |
Atg7 |
A |
T |
6: 114,678,151 (GRCm39) |
Q347L |
probably benign |
Het |
Atl2 |
T |
C |
17: 80,163,690 (GRCm39) |
I316V |
possibly damaging |
Het |
B4galnt3 |
A |
T |
6: 120,183,577 (GRCm39) |
|
probably null |
Het |
Baiap2l1 |
A |
T |
5: 144,214,502 (GRCm39) |
Y397* |
probably null |
Het |
Cacna1b |
A |
G |
2: 24,568,886 (GRCm39) |
|
probably null |
Het |
Capn10 |
T |
C |
1: 92,862,686 (GRCm39) |
S31P |
probably damaging |
Het |
Casp8ap2 |
C |
T |
4: 32,615,490 (GRCm39) |
|
probably benign |
Het |
Ccdc122 |
A |
T |
14: 77,329,318 (GRCm39) |
I124L |
probably benign |
Het |
Ccdc90b |
A |
G |
7: 92,210,750 (GRCm39) |
S3G |
probably benign |
Het |
Cdc14b |
A |
T |
13: 64,363,549 (GRCm39) |
|
probably null |
Het |
Chd5 |
T |
A |
4: 152,461,040 (GRCm39) |
M1210K |
probably benign |
Het |
Clec18a |
T |
G |
8: 111,807,551 (GRCm39) |
K133T |
probably damaging |
Het |
Cog4 |
T |
A |
8: 111,592,663 (GRCm39) |
M413K |
probably damaging |
Het |
Cpa5 |
A |
T |
6: 30,624,594 (GRCm39) |
I145L |
probably benign |
Het |
Ctdspl2 |
T |
G |
2: 121,837,423 (GRCm39) |
S397A |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,892,797 (GRCm39) |
I794N |
probably damaging |
Het |
Ednrb |
T |
A |
14: 104,060,640 (GRCm39) |
T218S |
possibly damaging |
Het |
Eif3b |
T |
A |
5: 140,412,530 (GRCm39) |
|
probably null |
Het |
Fanci |
A |
C |
7: 79,083,305 (GRCm39) |
|
probably null |
Het |
Fat2 |
C |
T |
11: 55,161,281 (GRCm39) |
V3150M |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,858,792 (GRCm39) |
Y3808C |
probably damaging |
Het |
Gabrr1 |
T |
A |
4: 33,162,718 (GRCm39) |
L428Q |
probably damaging |
Het |
Garnl3 |
G |
C |
2: 32,905,235 (GRCm39) |
P488R |
possibly damaging |
Het |
Gli3 |
T |
C |
13: 15,894,793 (GRCm39) |
S656P |
probably benign |
Het |
Gpr153 |
T |
C |
4: 152,364,634 (GRCm39) |
I230T |
probably damaging |
Het |
Hoxc6 |
A |
G |
15: 102,918,293 (GRCm39) |
N86D |
probably benign |
Het |
Iqch |
T |
G |
9: 63,336,312 (GRCm39) |
R985S |
probably damaging |
Het |
Jun |
T |
A |
4: 94,938,559 (GRCm39) |
N317I |
probably damaging |
Het |
Kif26a |
T |
G |
12: 112,141,752 (GRCm39) |
|
probably null |
Het |
Map4k3 |
T |
C |
17: 80,913,289 (GRCm39) |
H627R |
possibly damaging |
Het |
Misp |
T |
A |
10: 79,662,300 (GRCm39) |
I239N |
probably benign |
Het |
Mpzl2 |
T |
A |
9: 44,955,019 (GRCm39) |
V27E |
probably damaging |
Het |
Mta3 |
T |
C |
17: 84,099,090 (GRCm39) |
S385P |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,414,737 (GRCm39) |
S2561N |
unknown |
Het |
Myh8 |
A |
G |
11: 67,179,092 (GRCm39) |
H495R |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,133,135 (GRCm39) |
T927S |
probably benign |
Het |
Nr5a2 |
T |
A |
1: 136,868,385 (GRCm39) |
D310V |
probably benign |
Het |
Nrbp1 |
A |
G |
5: 31,403,147 (GRCm39) |
T207A |
probably damaging |
Het |
Nxf1 |
G |
T |
19: 8,748,414 (GRCm39) |
L14F |
probably benign |
Het |
Or2a25 |
G |
A |
6: 42,889,125 (GRCm39) |
A223T |
possibly damaging |
Het |
Or6c207 |
T |
A |
10: 129,104,917 (GRCm39) |
N92Y |
possibly damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,608,637 (GRCm39) |
E623G |
probably damaging |
Het |
Pid1 |
T |
C |
1: 84,262,721 (GRCm39) |
|
probably null |
Het |
Plcb2 |
C |
A |
2: 118,541,934 (GRCm39) |
R892L |
possibly damaging |
Het |
Polr1a |
C |
G |
6: 71,897,733 (GRCm39) |
P243A |
probably benign |
Het |
Pot1a |
A |
G |
6: 25,758,802 (GRCm39) |
*326Q |
probably null |
Het |
Ppp5c |
G |
T |
7: 16,741,071 (GRCm39) |
F335L |
probably damaging |
Het |
Prl8a2 |
T |
C |
13: 27,536,794 (GRCm39) |
Y139H |
probably benign |
Het |
Rogdi |
G |
T |
16: 4,829,601 (GRCm39) |
R93S |
probably benign |
Het |
Rsph6a |
C |
A |
7: 18,791,505 (GRCm39) |
R225S |
probably damaging |
Het |
Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
Sf3a2 |
T |
A |
10: 80,639,131 (GRCm39) |
|
probably null |
Het |
Shank3 |
T |
C |
15: 89,433,043 (GRCm39) |
S1263P |
possibly damaging |
Het |
Speer4f2 |
A |
C |
5: 17,579,459 (GRCm39) |
D86A |
|
Het |
Spmip8 |
A |
T |
8: 96,046,686 (GRCm39) |
I120F |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,530,529 (GRCm39) |
F2262S |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,069,378 (GRCm39) |
I2803F |
probably benign |
Het |
Taf1c |
C |
T |
8: 120,329,565 (GRCm39) |
|
probably null |
Het |
Tasor2 |
G |
A |
13: 3,624,881 (GRCm39) |
Q1690* |
probably null |
Het |
Tfap2a |
C |
T |
13: 40,872,744 (GRCm39) |
V317I |
probably benign |
Het |
Thnsl2 |
T |
C |
6: 71,106,317 (GRCm39) |
T370A |
probably benign |
Het |
Tmem201 |
C |
T |
4: 149,803,177 (GRCm39) |
G564S |
probably benign |
Het |
Ttc41 |
A |
C |
10: 86,612,030 (GRCm39) |
E1101A |
probably damaging |
Het |
Ugcg |
T |
A |
4: 59,211,974 (GRCm39) |
F113L |
possibly damaging |
Het |
Unc80 |
G |
T |
1: 66,690,692 (GRCm39) |
V2456L |
probably benign |
Het |
Vav3 |
A |
T |
3: 109,331,323 (GRCm39) |
N74I |
probably damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,829,976 (GRCm39) |
R58S |
probably benign |
Het |
Wdr97 |
C |
A |
15: 76,247,819 (GRCm39) |
F1614L |
|
Het |
Ylpm1 |
T |
A |
12: 85,080,801 (GRCm39) |
M1499K |
probably benign |
Het |
Zfp647 |
A |
G |
15: 76,795,571 (GRCm39) |
V363A |
possibly 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 |
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 |
|
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'- TTCGTCTCCAGTTGAAGTGC -3'
(R):5'- TTTTAGCAATACGGAGCTCATGC -3'
Sequencing Primer
(F):5'- GCAGATGTACATTTCAAAGGACTTGC -3'
(R):5'- GCTCATGCTTCTAATTAGCTAGAAAG -3'
|
Posted On |
2020-07-13 |