Incidental Mutation 'R7272:2210408I21Rik'
ID |
565368 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2210408I21Rik
|
Ensembl Gene |
ENSMUSG00000071252 |
Gene Name |
RIKEN cDNA 2210408I21 gene |
Synonyms |
|
MMRRC Submission |
045391-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7272 (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 77471655 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1020
(I1020T)
|
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: I1020T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000127449 Gene: ENSMUSG00000071252 AA Change: I1020T
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057N15Rik |
A |
T |
16: 88,570,523 (GRCm39) |
Y172* |
probably null |
Het |
4930558K02Rik |
T |
A |
1: 161,770,092 (GRCm39) |
Y139F |
possibly damaging |
Het |
A830018L16Rik |
T |
G |
1: 11,658,695 (GRCm39) |
M202R |
probably damaging |
Het |
Abca12 |
T |
C |
1: 71,287,591 (GRCm39) |
E2450G |
probably damaging |
Het |
Ank2 |
C |
T |
3: 126,736,782 (GRCm39) |
R3034H |
unknown |
Het |
Anxa9 |
A |
G |
3: 95,213,184 (GRCm39) |
I54T |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,961,941 (GRCm39) |
|
probably null |
Het |
Aspm |
T |
C |
1: 139,386,066 (GRCm39) |
I570T |
probably benign |
Het |
Bcar3 |
A |
T |
3: 122,302,045 (GRCm39) |
I247F |
possibly damaging |
Het |
Cep350 |
A |
G |
1: 155,829,334 (GRCm39) |
V130A |
probably damaging |
Het |
Cep89 |
A |
T |
7: 35,137,888 (GRCm39) |
R757S |
probably benign |
Het |
Cryga |
A |
T |
1: 65,142,381 (GRCm39) |
I4N |
probably damaging |
Het |
Cyp2d26 |
T |
A |
15: 82,676,764 (GRCm39) |
Y194F |
probably benign |
Het |
Edn2 |
G |
A |
4: 120,019,143 (GRCm39) |
R44H |
probably damaging |
Het |
Ep400 |
G |
A |
5: 110,903,511 (GRCm39) |
Q363* |
probably null |
Het |
Gpr33 |
T |
C |
12: 52,070,848 (GRCm39) |
T64A |
probably damaging |
Het |
Ice2 |
T |
A |
9: 69,324,365 (GRCm39) |
S763T |
possibly damaging |
Het |
Itgad |
C |
A |
7: 127,804,245 (GRCm39) |
F1169L |
probably damaging |
Het |
Kcnv1 |
A |
G |
15: 44,976,576 (GRCm39) |
L237P |
probably benign |
Het |
Kctd18 |
T |
C |
1: 57,995,710 (GRCm39) |
E356G |
probably damaging |
Het |
Krt33a |
C |
T |
11: 99,902,837 (GRCm39) |
R329Q |
probably damaging |
Het |
Lama2 |
C |
A |
10: 27,000,552 (GRCm39) |
G1657C |
probably damaging |
Het |
Marchf3 |
T |
G |
18: 56,895,593 (GRCm39) |
R217S |
probably benign |
Het |
Mmel1 |
A |
T |
4: 154,978,547 (GRCm39) |
T660S |
probably damaging |
Het |
Ms4a7 |
T |
A |
19: 11,310,642 (GRCm39) |
K59* |
probably null |
Het |
Mss51 |
G |
A |
14: 20,534,981 (GRCm39) |
T263I |
probably damaging |
Het |
Ncaph2 |
A |
G |
15: 89,248,385 (GRCm39) |
M199V |
probably benign |
Het |
Ndufa4 |
G |
A |
6: 11,905,209 (GRCm39) |
Q62* |
probably null |
Het |
Nectin4 |
A |
G |
1: 171,214,212 (GRCm39) |
T456A |
probably damaging |
Het |
Nek1 |
T |
C |
8: 61,578,120 (GRCm39) |
M1214T |
probably benign |
Het |
Nsf |
T |
A |
11: 103,718,064 (GRCm39) |
L710F |
probably damaging |
Het |
Nynrin |
G |
T |
14: 56,107,872 (GRCm39) |
G993V |
probably damaging |
Het |
Or1e31 |
T |
A |
11: 73,689,695 (GRCm39) |
D296V |
probably damaging |
Het |
Pbk |
T |
A |
14: 66,052,621 (GRCm39) |
Y155N |
probably damaging |
Het |
Plec |
T |
C |
15: 76,059,153 (GRCm39) |
I3595V |
possibly damaging |
Het |
Pom121 |
G |
A |
5: 135,409,941 (GRCm39) |
T1072I |
unknown |
Het |
Sdc1 |
T |
A |
12: 8,840,554 (GRCm39) |
H106Q |
probably benign |
Het |
Slc44a3 |
T |
C |
3: 121,254,764 (GRCm39) |
D618G |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,401,878 (GRCm39) |
D755G |
possibly damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,387 (GRCm39) |
Y783C |
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,975,006 (GRCm39) |
|
probably null |
Het |
Spindoc |
C |
T |
19: 7,360,085 (GRCm39) |
E28K |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,064,859 (GRCm39) |
D1880G |
possibly damaging |
Het |
Sspn |
T |
A |
6: 145,907,200 (GRCm39) |
D210E |
probably benign |
Het |
Stx12 |
A |
T |
4: 132,584,687 (GRCm39) |
I219K |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,095,417 (GRCm39) |
V508A |
probably benign |
Het |
Tkt |
G |
T |
14: 30,287,564 (GRCm39) |
R186L |
probably damaging |
Het |
Trmt10a |
T |
A |
3: 137,860,527 (GRCm39) |
M241K |
probably damaging |
Het |
Vgll2 |
C |
A |
10: 51,903,758 (GRCm39) |
A207E |
possibly damaging |
Het |
Vmn1r114 |
A |
G |
7: 20,545,543 (GRCm39) |
F190S |
probably damaging |
Het |
Xpot |
C |
T |
10: 121,453,094 (GRCm39) |
|
probably null |
Het |
Yrdc |
G |
A |
4: 124,744,820 (GRCm39) |
A85T |
probably benign |
Het |
Zfp385c |
C |
T |
11: 100,520,865 (GRCm39) |
R265K |
possibly damaging |
Het |
Zgrf1 |
A |
T |
3: 127,392,409 (GRCm39) |
I1310F |
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 |
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'- TTTCTTCCCAGGCATCACGG -3'
(R):5'- CAGTGTCCTTGCTTTCAGAAG -3'
Sequencing Primer
(F):5'- ATCACGGAGCTTGCTGC -3'
(R):5'- CTGTTGCTCCATCCAGTTGGG -3'
|
Posted On |
2019-06-26 |