Incidental Mutation 'R6135:2210408I21Rik'
ID |
488307 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2210408I21Rik
|
Ensembl Gene |
ENSMUSG00000071252 |
Gene Name |
RIKEN cDNA 2210408I21 gene |
Synonyms |
|
MMRRC Submission |
044282-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6135 (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 G
at 77402335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 95
(E95G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153269
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
[ENSMUST00000225760]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168779
AA Change: E409G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000127449 Gene: ENSMUSG00000071252 AA Change: E409G
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 |
probably damaging
Transcript: ENSMUST00000225760
AA Change: E95G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.1640 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
C |
T |
3: 121,932,096 (GRCm39) |
T250I |
possibly damaging |
Het |
Ahi1 |
G |
A |
10: 20,845,020 (GRCm39) |
R375H |
probably benign |
Het |
Aimp1 |
T |
C |
3: 132,377,844 (GRCm39) |
K174E |
probably benign |
Het |
Aire |
A |
G |
10: 77,878,801 (GRCm39) |
L82P |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,259,656 (GRCm39) |
V760D |
possibly damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Carf |
C |
T |
1: 60,187,122 (GRCm39) |
S540F |
probably damaging |
Het |
Ccdc171 |
T |
A |
4: 83,473,087 (GRCm39) |
M172K |
probably benign |
Het |
Chpt1 |
A |
T |
10: 88,318,145 (GRCm39) |
V199E |
possibly damaging |
Het |
Cldn16 |
G |
A |
16: 26,293,018 (GRCm39) |
D65N |
possibly damaging |
Het |
Cnga3 |
G |
A |
1: 37,271,318 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,244,246 (GRCm39) |
T440A |
unknown |
Het |
Creb3l3 |
A |
G |
10: 80,921,552 (GRCm39) |
I331T |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,832,379 (GRCm39) |
T1410A |
probably benign |
Het |
Dnm1 |
T |
A |
2: 32,223,075 (GRCm39) |
|
probably null |
Het |
Fhl5 |
A |
T |
4: 25,214,716 (GRCm39) |
Y20* |
probably null |
Het |
Fignl1 |
T |
C |
11: 11,752,557 (GRCm39) |
D166G |
probably benign |
Het |
Ghr |
T |
C |
15: 3,355,447 (GRCm39) |
I279V |
probably benign |
Het |
Gm1979 |
T |
G |
5: 26,205,298 (GRCm39) |
S180R |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,189,292 (GRCm39) |
V1232A |
possibly damaging |
Het |
Ifnar1 |
A |
G |
16: 91,298,508 (GRCm39) |
|
probably null |
Het |
Inpp5d |
A |
G |
1: 87,548,119 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kcnh2 |
T |
A |
5: 24,526,791 (GRCm39) |
S1002C |
probably damaging |
Het |
Krt87 |
T |
A |
15: 101,385,415 (GRCm39) |
E319V |
probably damaging |
Het |
Lbp |
A |
G |
2: 158,159,469 (GRCm39) |
I201V |
probably benign |
Het |
Man1a2 |
G |
A |
3: 100,592,248 (GRCm39) |
|
probably benign |
Het |
Myh8 |
A |
G |
11: 67,188,326 (GRCm39) |
T996A |
possibly damaging |
Het |
Nat10 |
A |
G |
2: 103,573,661 (GRCm39) |
L319P |
probably damaging |
Het |
Nelfa |
A |
G |
5: 34,056,620 (GRCm39) |
|
probably null |
Het |
Or5b97 |
A |
C |
19: 12,878,803 (GRCm39) |
Y114D |
probably damaging |
Het |
Pcdha11 |
T |
A |
18: 37,138,870 (GRCm39) |
N166K |
probably damaging |
Het |
Pcdha6 |
C |
A |
18: 37,102,269 (GRCm39) |
N487K |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,415,460 (GRCm39) |
D91G |
possibly damaging |
Het |
Pigp |
A |
G |
16: 94,171,065 (GRCm39) |
F22L |
probably benign |
Het |
Pnpla8 |
A |
C |
12: 44,329,670 (GRCm39) |
N74T |
probably benign |
Het |
Ppargc1b |
T |
C |
18: 61,448,980 (GRCm39) |
K114R |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,693,430 (GRCm39) |
D645G |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,332,854 (GRCm39) |
V2688I |
probably benign |
Het |
Rnf43 |
A |
G |
11: 87,622,951 (GRCm39) |
H557R |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
Rrp9 |
G |
A |
9: 106,360,221 (GRCm39) |
D210N |
probably damaging |
Het |
Scin |
G |
T |
12: 40,129,807 (GRCm39) |
Q329K |
possibly damaging |
Het |
Scn7a |
T |
A |
2: 66,534,244 (GRCm39) |
H477L |
probably benign |
Het |
Slc26a8 |
A |
T |
17: 28,888,914 (GRCm39) |
M195K |
probably benign |
Het |
Spata13 |
A |
G |
14: 60,993,877 (GRCm39) |
K1110E |
probably damaging |
Het |
Spata24 |
T |
A |
18: 35,793,503 (GRCm39) |
E103V |
probably damaging |
Het |
Srek1 |
T |
C |
13: 103,910,894 (GRCm39) |
N25S |
probably damaging |
Het |
Strada |
T |
C |
11: 106,064,140 (GRCm39) |
Y59C |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,626,831 (GRCm39) |
W1143R |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,738,559 (GRCm39) |
D765E |
probably benign |
Het |
Ttbk2 |
G |
A |
2: 120,580,798 (GRCm39) |
R444C |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,644,303 (GRCm39) |
I4555N |
possibly damaging |
Het |
Vcan |
C |
T |
13: 89,838,045 (GRCm39) |
E2500K |
probably benign |
Het |
Vps16 |
A |
G |
2: 130,280,573 (GRCm39) |
Y200C |
possibly damaging |
Het |
Wdfy4 |
T |
A |
14: 32,693,668 (GRCm39) |
H2719L |
probably damaging |
Het |
Zfhx2 |
T |
C |
14: 55,311,653 (GRCm39) |
D347G |
possibly damaging |
Het |
Zfp653 |
G |
A |
9: 21,969,558 (GRCm39) |
T236I |
probably damaging |
Het |
Zscan4-ps1 |
A |
T |
7: 10,799,913 (GRCm39) |
H325Q |
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 |
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 |
|
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'- ATGACTTAGCTGTCTCTACAACC -3'
(R):5'- AACATTCCCAGCAACAGCGTATA -3'
Sequencing Primer
(F):5'- AGCTGTCTCTACAACCCTGTTTTTC -3'
(R):5'- GCAACAGCGTATAAGGATTATTTTCC -3'
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Posted On |
2017-10-10 |