Incidental Mutation 'R7215:2210408I21Rik'
| ID |
561412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
045287-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77471690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 1032
(V1032M)
|
| 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: V1032M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: V1032M
| 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 |
0.1609 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,238,405 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
T |
A |
10: 61,047,375 (GRCm39) |
H739L |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,841,397 (GRCm39) |
E758G |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,496,277 (GRCm39) |
T826S |
probably damaging |
Het |
| Arhgap45 |
C |
T |
10: 79,861,316 (GRCm39) |
T493I |
possibly damaging |
Het |
| Atg9b |
A |
C |
5: 24,593,039 (GRCm39) |
W455G |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,416,785 (GRCm39) |
N496S |
possibly damaging |
Het |
| Bckdk |
T |
A |
7: 127,504,282 (GRCm39) |
D60E |
possibly damaging |
Het |
| Blmh |
A |
T |
11: 76,856,725 (GRCm39) |
K244* |
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,291 (GRCm39) |
I474V |
possibly damaging |
Het |
| C87436 |
A |
G |
6: 86,439,662 (GRCm39) |
E451G |
possibly damaging |
Het |
| Camta1 |
T |
C |
4: 151,229,194 (GRCm39) |
E546G |
probably damaging |
Het |
| Casp1 |
A |
G |
9: 5,298,523 (GRCm39) |
|
probably null |
Het |
| Ccdc116 |
A |
G |
16: 16,957,792 (GRCm39) |
Y456H |
probably damaging |
Het |
| Cep350 |
A |
C |
1: 155,770,453 (GRCm39) |
S1812R |
possibly damaging |
Het |
| Chrna10 |
A |
G |
7: 101,761,415 (GRCm39) |
L392P |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,842,181 (GRCm39) |
C434* |
probably null |
Het |
| Cxcl9 |
G |
A |
5: 92,471,747 (GRCm39) |
Q98* |
probably null |
Het |
| Cyp2c54 |
G |
A |
19: 40,034,626 (GRCm39) |
T348I |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,657,509 (GRCm39) |
R756C |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,815,034 (GRCm39) |
T239A |
probably benign |
Het |
| Dnase2a |
A |
T |
8: 85,636,399 (GRCm39) |
|
probably null |
Het |
| Dpyd |
A |
G |
3: 119,059,681 (GRCm39) |
T793A |
probably benign |
Het |
| Edil3 |
T |
C |
13: 88,970,169 (GRCm39) |
|
probably null |
Het |
| Ehd1 |
T |
A |
19: 6,347,672 (GRCm39) |
I342N |
possibly damaging |
Het |
| Erbb4 |
A |
T |
1: 68,378,619 (GRCm39) |
S341T |
probably benign |
Het |
| Ezh1 |
T |
A |
11: 101,106,125 (GRCm39) |
T87S |
probably benign |
Het |
| Fam20b |
A |
T |
1: 156,518,123 (GRCm39) |
W224R |
probably damaging |
Het |
| Galns |
A |
T |
8: 123,326,087 (GRCm39) |
|
probably null |
Het |
| Gm13283 |
C |
T |
4: 88,678,967 (GRCm39) |
|
probably benign |
Het |
| Gm49342 |
A |
T |
14: 51,182,040 (GRCm39) |
M23L |
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,060,795 (GRCm39) |
H18L |
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,787,404 (GRCm39) |
W299R |
probably damaging |
Het |
| Hadha |
G |
T |
5: 30,324,840 (GRCm39) |
N755K |
probably benign |
Het |
| Inpp5d |
A |
T |
1: 87,628,940 (GRCm39) |
H620L |
probably benign |
Het |
| Klk1b3 |
T |
A |
7: 43,849,828 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,401,097 (GRCm39) |
T663A |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,240,402 (GRCm39) |
N601S |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,251,307 (GRCm39) |
V605A |
possibly damaging |
Het |
| Med23 |
C |
G |
10: 24,764,327 (GRCm39) |
D311E |
probably benign |
Het |
| Myo3a |
G |
T |
2: 22,250,378 (GRCm39) |
D82Y |
possibly damaging |
Het |
| Nsd1 |
T |
A |
13: 55,395,454 (GRCm39) |
D1121E |
probably benign |
Het |
| Odad1 |
C |
T |
7: 45,586,046 (GRCm39) |
R148C |
probably damaging |
Het |
| Or4c116 |
G |
A |
2: 88,942,845 (GRCm39) |
Q4* |
probably null |
Het |
| Or5al1 |
C |
T |
2: 85,989,800 (GRCm39) |
V305I |
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,743 (GRCm39) |
I12T |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,717,795 (GRCm39) |
V19A |
unknown |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,439 (GRCm39) |
T322S |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,586,745 (GRCm39) |
T257A |
probably benign |
Het |
| Pi16 |
G |
T |
17: 29,538,072 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
C |
T |
6: 139,700,589 (GRCm39) |
T293M |
|
Het |
| Pira13 |
C |
T |
7: 3,825,310 (GRCm39) |
C444Y |
unknown |
Het |
| Pkhd1l1 |
T |
A |
15: 44,391,559 (GRCm39) |
C1542S |
possibly damaging |
Het |
| Prrc2b |
G |
A |
2: 32,119,309 (GRCm39) |
G2172R |
probably damaging |
Het |
| Prrt1 |
A |
T |
17: 34,848,677 (GRCm39) |
|
probably null |
Het |
| Ptprb |
T |
A |
10: 116,174,681 (GRCm39) |
N784K |
possibly damaging |
Het |
| Rem1 |
C |
A |
2: 152,470,069 (GRCm39) |
S18R |
probably damaging |
Het |
| Ripk4 |
G |
A |
16: 97,548,523 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
A |
15: 100,927,711 (GRCm39) |
V1397I |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,900,052 (GRCm39) |
H1205L |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,692,361 (GRCm39) |
I132V |
probably damaging |
Het |
| Slc24a1 |
T |
A |
9: 64,835,785 (GRCm39) |
T781S |
unknown |
Het |
| Sncaip |
C |
T |
18: 53,040,415 (GRCm39) |
Q870* |
probably null |
Het |
| Stab1 |
A |
T |
14: 30,882,754 (GRCm39) |
N416K |
possibly damaging |
Het |
| Tcea1 |
A |
G |
1: 4,937,706 (GRCm39) |
D26G |
probably damaging |
Het |
| Tcf20 |
A |
T |
15: 82,737,690 (GRCm39) |
S1254T |
probably benign |
Het |
| Tead4 |
T |
A |
6: 128,205,641 (GRCm39) |
I354F |
probably damaging |
Het |
| Tex36 |
G |
A |
7: 133,189,147 (GRCm39) |
R142* |
probably null |
Het |
| Trav6d-3 |
T |
A |
14: 52,962,799 (GRCm39) |
L12Q |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,102,317 (GRCm39) |
T72A |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,733,945 (GRCm39) |
A933T |
probably benign |
Het |
| Tspoap1 |
T |
A |
11: 87,661,315 (GRCm39) |
I589N |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,980,170 (GRCm39) |
V918E |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,384,205 (GRCm39) |
Y1091H |
probably damaging |
Het |
| Txn2 |
A |
G |
15: 77,811,886 (GRCm39) |
|
probably null |
Het |
| Ucn3 |
T |
G |
13: 3,991,365 (GRCm39) |
T96P |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,155,980 (GRCm39) |
E764G |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,049,710 (GRCm39) |
T680A |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,394,853 (GRCm39) |
I891T |
possibly damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,687,039 (GRCm39) |
I803V |
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 |
|
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 |
|
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'- GGCAGTGTCTATTGTCCTCAG -3'
(R):5'- AGAGACAGGCATGGCTTTACC -3'
Sequencing Primer
(F):5'- CCTCAGCAAGTTACCTACAGTGATTG -3'
(R):5'- ACCATTGGATGCTCAGTGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation