Incidental Mutation 'R5387:2210408I21Rik'
| ID |
425357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
042959-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5387 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77408092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 140
(S140T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
[ENSMUST00000225760]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168779
AA Change: S454T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: S454T
| 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 benign
Transcript: ENSMUST00000225760
AA Change: S140T
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,981,055 (GRCm39) |
S780P |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,767,697 (GRCm39) |
H1205N |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,202,356 (GRCm39) |
K139R |
probably benign |
Het |
| Anp32b |
T |
G |
4: 46,468,573 (GRCm39) |
C114W |
probably damaging |
Het |
| Ascl1 |
C |
T |
10: 87,328,551 (GRCm39) |
A134T |
probably damaging |
Het |
| Atl2 |
C |
T |
17: 80,160,229 (GRCm39) |
E453K |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,032,005 (GRCm39) |
A84V |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,804,044 (GRCm39) |
M332K |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,822,708 (GRCm39) |
V1107A |
probably damaging |
Het |
| Cd33 |
G |
A |
7: 43,181,477 (GRCm39) |
Q114* |
probably null |
Het |
| Cdhr18 |
C |
A |
14: 13,914,438 (GRCm38) |
M1I |
probably null |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Defb22 |
C |
A |
2: 152,327,826 (GRCm39) |
A120S |
unknown |
Het |
| Dnah7b |
A |
G |
1: 46,227,819 (GRCm39) |
I1347M |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,025,668 (GRCm39) |
I549T |
possibly damaging |
Het |
| Esp15 |
T |
A |
17: 39,955,468 (GRCm39) |
|
probably null |
Het |
| Fbxo7 |
A |
G |
10: 85,860,518 (GRCm39) |
T42A |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,556 (GRCm39) |
I1021T |
probably benign |
Het |
| Gad1 |
C |
A |
2: 70,394,195 (GRCm39) |
S7* |
probably null |
Het |
| H2ac7 |
T |
A |
13: 23,758,841 (GRCm39) |
|
probably null |
Het |
| H2-Q7 |
C |
T |
17: 35,658,518 (GRCm39) |
T52M |
probably damaging |
Het |
| H2-T3 |
C |
T |
17: 36,497,594 (GRCm39) |
G28R |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ift81 |
A |
G |
5: 122,693,598 (GRCm39) |
Y604H |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,842,785 (GRCm39) |
Y154C |
probably damaging |
Het |
| Kif26b |
G |
T |
1: 178,742,441 (GRCm39) |
A846S |
probably benign |
Het |
| Lnx2 |
G |
A |
5: 146,964,964 (GRCm39) |
P420S |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,216 (GRCm39) |
T427A |
probably damaging |
Het |
| Lrrc43 |
G |
T |
5: 123,637,734 (GRCm39) |
|
probably null |
Het |
| Mettl25b |
A |
T |
3: 87,837,318 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,861,353 (GRCm39) |
Y1325H |
probably damaging |
Het |
| Naglu |
A |
T |
11: 100,967,550 (GRCm39) |
Y500F |
probably damaging |
Het |
| Npy4r |
A |
G |
14: 33,868,940 (GRCm39) |
M116T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,896,959 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,801,972 (GRCm39) |
S472P |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,625,183 (GRCm39) |
T31S |
probably benign |
Het |
| Or12k8 |
T |
C |
2: 36,975,731 (GRCm39) |
T10A |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,616,794 (GRCm39) |
T1828S |
probably benign |
Het |
| Pank2 |
C |
T |
2: 131,116,182 (GRCm39) |
T200I |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,804,567 (GRCm39) |
Y946C |
probably damaging |
Het |
| Pde12 |
A |
T |
14: 26,387,608 (GRCm39) |
S437T |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,304,427 (GRCm39) |
K1710E |
possibly damaging |
Het |
| Plcd3 |
A |
G |
11: 102,969,281 (GRCm39) |
S229P |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Prkaa2 |
C |
A |
4: 104,897,374 (GRCm39) |
D280Y |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,153,873 (GRCm38) |
S531R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,321,303 (GRCm39) |
S620P |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,400,876 (GRCm39) |
T117A |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,985,335 (GRCm39) |
D804G |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,678,370 (GRCm39) |
T773A |
possibly damaging |
Het |
| Rspry1 |
A |
G |
8: 95,364,914 (GRCm39) |
T185A |
possibly damaging |
Het |
| Sec61a2 |
G |
T |
2: 5,887,356 (GRCm39) |
|
probably benign |
Het |
| Setx |
C |
T |
2: 29,037,606 (GRCm39) |
R1364C |
probably benign |
Het |
| Shtn1 |
G |
T |
19: 59,026,801 (GRCm39) |
L97M |
probably damaging |
Het |
| Slc35f1 |
T |
C |
10: 52,984,260 (GRCm39) |
L340P |
probably damaging |
Het |
| Slc45a1 |
T |
A |
4: 150,728,366 (GRCm39) |
|
probably benign |
Het |
| Slmap |
T |
C |
14: 26,181,088 (GRCm39) |
E386G |
probably benign |
Het |
| Smc2 |
C |
T |
4: 52,475,096 (GRCm39) |
A924V |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,286,359 (GRCm39) |
L766F |
probably damaging |
Het |
| Tle3 |
C |
T |
9: 61,314,771 (GRCm39) |
|
probably null |
Het |
| Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
| Trappc2b |
A |
T |
11: 51,576,801 (GRCm39) |
D32E |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,548,541 (GRCm39) |
I26T |
possibly damaging |
Het |
| Ttc7b |
G |
T |
12: 100,413,222 (GRCm39) |
Q199K |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 89,913,903 (GRCm39) |
Y975C |
probably benign |
Het |
| Ubxn11 |
C |
A |
4: 133,850,737 (GRCm39) |
D196E |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,569,180 (GRCm39) |
H945R |
possibly damaging |
Het |
| Usp15 |
A |
G |
10: 122,967,191 (GRCm39) |
I405T |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,189,339 (GRCm39) |
E138K |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,399,252 (GRCm39) |
E107G |
probably benign |
Het |
| Wbp1l |
T |
C |
19: 46,632,896 (GRCm39) |
|
probably null |
Het |
| Zfp184 |
T |
G |
13: 22,133,810 (GRCm39) |
|
probably benign |
Het |
| Zfp36 |
A |
C |
7: 28,077,293 (GRCm39) |
L205R |
possibly 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 |
|
|
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 |
|
|
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'- TTTTGAGAGTCTATCAGAGGATGTC -3'
(R):5'- CCACATAGGTTGCTTTTACAATTCC -3'
Sequencing Primer
(F):5'- CTGAAAAACCTGCTCCTGTGTTAG -3'
(R):5'- TGCTTTTACAATTCCTTCCAAAAAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation