Incidental Mutation 'R7684:2210408I21Rik'
ID |
592958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2210408I21Rik
|
Ensembl Gene |
ENSMUSG00000071252 |
Gene Name |
RIKEN cDNA 2210408I21 gene |
Synonyms |
|
MMRRC Submission |
067780-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7684 (G1)
|
Quality Score |
217.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 77760659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 1239
(K1239*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000168779
AA Change: K1239*
|
SMART Domains |
Protein: ENSMUSP00000127449 Gene: ENSMUSG00000071252 AA Change: K1239*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (73/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd6 |
T |
C |
14: 8,039,807 (GRCm38) |
F60S |
probably damaging |
Het |
Adam6b |
G |
A |
12: 113,455,196 (GRCm39) |
W671* |
probably null |
Het |
Ankrd36 |
A |
G |
11: 5,520,113 (GRCm39) |
T63A |
possibly damaging |
Het |
Arhgef16 |
A |
G |
4: 154,366,285 (GRCm39) |
V494A |
possibly damaging |
Het |
Arhgef7 |
T |
A |
8: 11,869,663 (GRCm39) |
M659K |
probably benign |
Het |
Cacna1h |
A |
G |
17: 25,608,346 (GRCm39) |
Y854H |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,248,692 (GRCm39) |
F780I |
possibly damaging |
Het |
Cldn8 |
A |
G |
16: 88,359,335 (GRCm39) |
Y197H |
probably damaging |
Het |
Cpne8 |
A |
T |
15: 90,533,450 (GRCm39) |
D58E |
probably damaging |
Het |
Cul9 |
T |
G |
17: 46,820,815 (GRCm39) |
Y1954S |
probably damaging |
Het |
Cyp4a10 |
T |
A |
4: 115,375,549 (GRCm39) |
F11I |
probably benign |
Het |
Cysrt1 |
A |
T |
2: 25,129,094 (GRCm39) |
C139* |
probably null |
Het |
Dnajc16 |
A |
G |
4: 141,501,879 (GRCm39) |
V317A |
probably benign |
Het |
Dnmt3a |
T |
C |
12: 3,947,340 (GRCm39) |
V437A |
probably benign |
Het |
Dok5 |
T |
C |
2: 170,683,344 (GRCm39) |
C202R |
probably damaging |
Het |
Dusp11 |
T |
A |
6: 85,927,542 (GRCm39) |
R164S |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,077,117 (GRCm39) |
S648P |
probably benign |
Het |
Egfem1 |
A |
T |
3: 29,744,334 (GRCm39) |
R581S |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,115,094 (GRCm39) |
F226S |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,845,218 (GRCm39) |
I1541T |
unknown |
Het |
Exd1 |
A |
G |
2: 119,350,684 (GRCm39) |
S526P |
probably damaging |
Het |
Fam118a |
A |
G |
15: 84,942,982 (GRCm39) |
E337G |
possibly damaging |
Het |
Fam20b |
T |
C |
1: 156,518,215 (GRCm39) |
N193S |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,899,564 (GRCm39) |
|
probably null |
Het |
Flg2 |
T |
C |
3: 93,126,956 (GRCm39) |
V1956A |
unknown |
Het |
Fzd10 |
A |
G |
5: 128,678,480 (GRCm39) |
I67V |
possibly damaging |
Het |
Gckr |
A |
T |
5: 31,465,141 (GRCm39) |
D370V |
probably damaging |
Het |
Gm8797 |
A |
T |
3: 5,816,148 (GRCm39) |
Q62L |
probably benign |
Het |
H6pd |
G |
T |
4: 150,080,519 (GRCm39) |
Q109K |
probably benign |
Het |
Higd1a |
T |
C |
9: 121,679,322 (GRCm39) |
K55R |
possibly damaging |
Het |
Il1b |
C |
T |
2: 129,209,277 (GRCm39) |
V118I |
probably benign |
Het |
Insr |
T |
C |
8: 3,219,753 (GRCm39) |
N923S |
possibly damaging |
Het |
Krit1 |
A |
G |
5: 3,880,723 (GRCm39) |
I561V |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,002,771 (GRCm39) |
D1070G |
probably null |
Het |
Lpcat2 |
T |
A |
8: 93,635,823 (GRCm39) |
D408E |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,788,762 (GRCm39) |
F427Y |
probably benign |
Het |
Mtx1 |
A |
T |
3: 89,117,739 (GRCm39) |
I258K |
possibly damaging |
Het |
Nckap5 |
T |
C |
1: 125,954,594 (GRCm39) |
T653A |
probably benign |
Het |
Npas3 |
A |
T |
12: 54,115,609 (GRCm39) |
N844Y |
probably damaging |
Het |
Nrg3 |
A |
T |
14: 39,194,522 (GRCm39) |
L79Q |
probably damaging |
Het |
Nsmce1 |
C |
A |
7: 125,070,348 (GRCm39) |
K154N |
probably damaging |
Het |
Oard1 |
T |
C |
17: 48,723,726 (GRCm39) |
L124P |
probably damaging |
Het |
Or10ag57 |
T |
C |
2: 87,218,372 (GRCm39) |
S108P |
probably damaging |
Het |
Or10ak13 |
T |
C |
4: 118,639,471 (GRCm39) |
M104V |
probably benign |
Het |
Or51a10 |
G |
A |
7: 103,698,667 (GRCm39) |
T298I |
probably damaging |
Het |
Or51ah3 |
T |
C |
7: 103,210,425 (GRCm39) |
F247S |
probably benign |
Het |
Ovgp1 |
A |
T |
3: 105,887,272 (GRCm39) |
T223S |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 115,987,312 (GRCm39) |
Y536* |
probably null |
Het |
Plekho2 |
A |
T |
9: 65,466,816 (GRCm39) |
|
probably null |
Het |
Prelid3b |
T |
C |
2: 174,310,210 (GRCm39) |
|
probably null |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rxfp1 |
T |
A |
3: 79,578,214 (GRCm39) |
N159I |
possibly damaging |
Het |
Sfmbt1 |
A |
G |
14: 30,532,311 (GRCm39) |
Q557R |
probably damaging |
Het |
Slc22a18 |
G |
T |
7: 143,044,577 (GRCm39) |
V177L |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,587,294 (GRCm39) |
I451M |
probably benign |
Het |
Slc39a12 |
T |
C |
2: 14,454,670 (GRCm39) |
S563P |
probably damaging |
Het |
Snx20 |
T |
C |
8: 89,353,863 (GRCm39) |
D289G |
probably benign |
Het |
Sptb |
A |
G |
12: 76,658,969 (GRCm39) |
Y1189H |
probably benign |
Het |
Tbc1d1 |
T |
A |
5: 64,473,829 (GRCm39) |
M784K |
probably benign |
Het |
Tbkbp1 |
T |
C |
11: 97,038,559 (GRCm39) |
|
probably benign |
Het |
Tfap2b |
G |
C |
1: 19,284,511 (GRCm39) |
D140H |
probably damaging |
Het |
Thy1 |
G |
A |
9: 43,957,855 (GRCm39) |
G13D |
unknown |
Het |
Ticam1 |
A |
G |
17: 56,576,984 (GRCm39) |
S704P |
unknown |
Het |
Tmem151b |
A |
G |
17: 45,857,929 (GRCm39) |
Y106H |
probably damaging |
Het |
Trappc8 |
T |
C |
18: 20,996,559 (GRCm39) |
N452S |
probably benign |
Het |
Ttc9c |
A |
G |
19: 8,789,128 (GRCm39) |
Y166H |
probably damaging |
Het |
Txndc16 |
A |
G |
14: 45,385,325 (GRCm39) |
V556A |
possibly damaging |
Het |
Tyrp1 |
C |
A |
4: 80,758,862 (GRCm39) |
S245Y |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,583,006 (GRCm39) |
L621* |
probably null |
Het |
Wdr72 |
A |
T |
9: 74,054,292 (GRCm39) |
T224S |
probably damaging |
Het |
Zc3h18 |
T |
G |
8: 123,134,165 (GRCm39) |
S544A |
unknown |
Het |
Zfp462 |
T |
A |
4: 55,008,908 (GRCm39) |
N291K |
probably benign |
Het |
Zfp609 |
T |
C |
9: 65,638,362 (GRCm39) |
N290S |
possibly damaging |
Het |
Zfp979 |
A |
T |
4: 147,697,799 (GRCm39) |
H303Q |
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 |
R7561:2210408I21Rik
|
UTSW |
13 |
77,341,314 (GRCm39) |
missense |
probably benign |
|
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'- TAGTGAATGCTTGCCTAAGAGG -3'
(R):5'- AAACAGAGACTATTGGGTGCAC -3'
Sequencing Primer
(F):5'- CCTAAGAGGCAAGCACAACAG -3'
(R):5'- CAGAGACTATTGGGTGCACTCTATC -3'
|
Posted On |
2019-11-12 |