Incidental Mutation 'R6188:2210408I21Rik'
ID |
502329 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2210408I21Rik
|
Ensembl Gene |
ENSMUSG00000071252 |
Gene Name |
RIKEN cDNA 2210408I21 gene |
Synonyms |
|
MMRRC Submission |
044328-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6188 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77331850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 88
(I88F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153096
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
[ENSMUST00000225605]
[ENSMUST00000225960]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168779
AA Change: I88F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127449 Gene: ENSMUSG00000071252 AA Change: I88F
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225605
AA Change: I88F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225960
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225992
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,943,471 (GRCm39) |
S28P |
probably benign |
Het |
a |
A |
T |
2: 154,889,602 (GRCm39) |
N56I |
probably damaging |
Het |
Apoe |
C |
A |
7: 19,432,305 (GRCm39) |
|
probably benign |
Het |
Aspm |
C |
A |
1: 139,406,977 (GRCm39) |
R1955S |
possibly damaging |
Het |
Boc |
G |
A |
16: 44,319,911 (GRCm39) |
L358F |
possibly damaging |
Het |
Cadm2 |
A |
T |
16: 66,612,195 (GRCm39) |
|
probably null |
Het |
Ccdc183 |
T |
C |
2: 25,499,764 (GRCm39) |
E384G |
probably benign |
Het |
Ccl12 |
A |
G |
11: 81,993,943 (GRCm39) |
T67A |
probably damaging |
Het |
Cep120 |
T |
C |
18: 53,857,529 (GRCm39) |
D312G |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,229,952 (GRCm39) |
V1712A |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,233,784 (GRCm39) |
S435P |
possibly damaging |
Het |
Dmbt1 |
A |
T |
7: 130,699,361 (GRCm39) |
N997Y |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,453,396 (GRCm39) |
I86F |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,150,275 (GRCm39) |
Q168R |
probably benign |
Het |
Epb41l4a |
T |
A |
18: 33,965,718 (GRCm39) |
I370L |
probably benign |
Het |
Erc2 |
T |
A |
14: 28,039,208 (GRCm39) |
D950E |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,832,479 (GRCm39) |
V405A |
probably damaging |
Het |
F13a1 |
T |
C |
13: 37,209,752 (GRCm39) |
D71G |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,602,696 (GRCm39) |
Y205F |
possibly damaging |
Het |
Fcnb |
C |
A |
2: 27,969,202 (GRCm39) |
R165M |
possibly damaging |
Het |
Fndc3a |
C |
T |
14: 72,827,401 (GRCm39) |
V50I |
probably damaging |
Het |
Gm13276 |
C |
T |
4: 88,704,096 (GRCm39) |
Q51* |
probably null |
Het |
Grik1 |
T |
C |
16: 87,852,959 (GRCm39) |
T75A |
probably benign |
Het |
Grip2 |
A |
G |
6: 91,740,514 (GRCm39) |
L1015P |
probably damaging |
Het |
Hnrnpk |
A |
G |
13: 58,541,967 (GRCm39) |
F339L |
probably benign |
Het |
Iqgap3 |
A |
G |
3: 88,006,200 (GRCm39) |
D537G |
probably benign |
Het |
Kars1 |
C |
T |
8: 112,735,113 (GRCm39) |
|
probably null |
Het |
Kpna7 |
G |
T |
5: 144,929,654 (GRCm39) |
N390K |
probably damaging |
Het |
Krt36 |
A |
T |
11: 99,993,246 (GRCm39) |
S410T |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,310,157 (GRCm39) |
E365G |
probably damaging |
Het |
Liph |
T |
C |
16: 21,803,018 (GRCm39) |
D17G |
probably benign |
Het |
Lmbrd1 |
C |
A |
1: 24,750,626 (GRCm39) |
N166K |
probably benign |
Het |
Lypd9 |
T |
C |
11: 58,337,182 (GRCm39) |
E97G |
probably benign |
Het |
Nup155 |
T |
C |
15: 8,139,059 (GRCm39) |
S44P |
probably damaging |
Het |
Or2m12 |
A |
G |
16: 19,105,307 (GRCm39) |
M62T |
probably damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,538 (GRCm39) |
C177* |
probably null |
Het |
Or5a3 |
A |
G |
19: 12,399,974 (GRCm39) |
I100M |
probably benign |
Het |
Pcdhga6 |
T |
C |
18: 37,841,324 (GRCm39) |
V348A |
probably benign |
Het |
Phc3 |
G |
A |
3: 30,991,198 (GRCm39) |
Q295* |
probably null |
Het |
Phyh |
A |
G |
2: 4,932,301 (GRCm39) |
E129G |
probably damaging |
Het |
Polb |
A |
G |
8: 23,137,463 (GRCm39) |
S96P |
probably damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,158,113 (GRCm39) |
K1174* |
probably null |
Het |
Ppp1r9b |
C |
T |
11: 94,882,662 (GRCm39) |
R97W |
probably damaging |
Het |
Pttg1ip |
T |
C |
10: 77,418,342 (GRCm39) |
|
probably null |
Het |
Pygm |
G |
A |
19: 6,447,967 (GRCm39) |
|
probably null |
Het |
Rgs20 |
GGAGAGAG |
GGAGAG |
1: 5,091,106 (GRCm39) |
|
probably null |
Het |
Rlf |
T |
C |
4: 121,027,963 (GRCm39) |
H111R |
probably damaging |
Het |
Rmdn3 |
A |
G |
2: 118,969,831 (GRCm39) |
|
probably null |
Het |
Ror2 |
T |
A |
13: 53,265,347 (GRCm39) |
T570S |
probably damaging |
Het |
Sel1l3 |
A |
C |
5: 53,313,061 (GRCm39) |
I542R |
possibly damaging |
Het |
Serpinb3d |
A |
G |
1: 107,006,237 (GRCm39) |
F284L |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc38a2 |
A |
G |
15: 96,590,397 (GRCm39) |
|
probably null |
Het |
Spata31e2 |
T |
A |
1: 26,724,784 (GRCm39) |
Y132F |
probably damaging |
Het |
Spata31h1 |
A |
G |
10: 82,121,091 (GRCm39) |
I3973T |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,186,087 (GRCm39) |
S1117G |
probably benign |
Het |
Trav15-1-dv6-1 |
C |
T |
14: 53,797,414 (GRCm39) |
A21V |
probably damaging |
Het |
Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
Vmn1r220 |
A |
T |
13: 23,368,084 (GRCm39) |
L204H |
probably damaging |
Het |
Vmn1r3 |
A |
T |
4: 3,185,017 (GRCm39) |
S97T |
probably damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,286 (GRCm39) |
F293S |
probably damaging |
Het |
Zfp983 |
A |
G |
17: 21,877,935 (GRCm39) |
Y46C |
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 |
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 |
|
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'- TTGGATGGCATTGCTTACATTC -3'
(R):5'- GCTTCACATCACAGTGTAAGTCAC -3'
Sequencing Primer
(F):5'- TCCAGATGCACAGCTAC -3'
(R):5'- AACTTTTATTTCCATACTTCGGTGC -3'
|
Posted On |
2018-02-27 |