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 |
Incidental Mutation