Incidental Mutation 'R7249:3425401B19Rik'
| ID |
563777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
045312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32385271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 231
(S231R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096038
AA Change: S231R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: S231R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
135 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1086 |
1097 |
N/A |
INTRINSIC |
|
low complexity region
|
1147 |
1158 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1176 |
N/A |
INTRINSIC |
|
Pfam:DUF4585
|
1251 |
1322 |
6.5e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
C |
8: 79,974,970 (GRCm39) |
T38A |
probably benign |
Het |
| Abi1 |
T |
C |
2: 22,847,101 (GRCm39) |
E250G |
possibly damaging |
Het |
| Actl6b |
T |
A |
5: 137,553,347 (GRCm39) |
S120T |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,522,378 (GRCm39) |
H5920Y |
probably damaging |
Het |
| Adra2c |
G |
A |
5: 35,438,299 (GRCm39) |
R357H |
probably damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,577,767 (GRCm39) |
D20G |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,506,583 (GRCm39) |
D847E |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,864,660 (GRCm39) |
E434G |
probably damaging |
Het |
| Carm1 |
T |
C |
9: 21,497,505 (GRCm39) |
Y356H |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,741,663 (GRCm39) |
K1075R |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,918 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,113,885 (GRCm39) |
V1769D |
possibly damaging |
Het |
| Dchs2 |
C |
T |
3: 83,035,336 (GRCm39) |
Q28* |
probably null |
Het |
| Dpp4 |
A |
G |
2: 62,215,547 (GRCm39) |
F107L |
probably benign |
Het |
| Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
| Faap24 |
A |
G |
7: 35,094,485 (GRCm39) |
V105A |
probably benign |
Het |
| Gabra6 |
A |
T |
11: 42,208,259 (GRCm39) |
D166E |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,033,126 (GRCm39) |
E117G |
probably damaging |
Het |
| H2-T10 |
T |
C |
17: 36,430,269 (GRCm39) |
D224G |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,793,865 (GRCm39) |
E332V |
probably benign |
Het |
| Htr5b |
T |
A |
1: 121,438,203 (GRCm39) |
N343Y |
probably damaging |
Het |
| Irf8 |
C |
A |
8: 121,466,571 (GRCm39) |
N5K |
possibly damaging |
Het |
| Itgb1 |
C |
A |
8: 129,446,885 (GRCm39) |
Q467K |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,212,550 (GRCm39) |
C1522F |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,025,596 (GRCm39) |
L138I |
probably benign |
Het |
| Lrrc8b |
G |
T |
5: 105,629,133 (GRCm39) |
R493L |
probably benign |
Het |
| Malrd1 |
G |
T |
2: 15,628,151 (GRCm39) |
C400F |
probably damaging |
Het |
| Marchf8 |
G |
A |
6: 116,383,195 (GRCm39) |
E257K |
probably benign |
Het |
| Mastl |
G |
A |
2: 23,036,151 (GRCm39) |
H122Y |
probably damaging |
Het |
| Mis18a |
T |
C |
16: 90,523,202 (GRCm39) |
K98R |
possibly damaging |
Het |
| Msra |
A |
G |
14: 64,678,212 (GRCm39) |
V28A |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,520 (GRCm39) |
V177A |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,264,999 (GRCm39) |
|
probably null |
Het |
| Nemp1 |
T |
C |
10: 127,529,395 (GRCm39) |
S226P |
probably damaging |
Het |
| Nmnat1 |
G |
A |
4: 149,554,099 (GRCm39) |
T147I |
probably null |
Het |
| Ntng2 |
A |
G |
2: 29,118,004 (GRCm39) |
V148A |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,245 (GRCm39) |
H304R |
possibly damaging |
Het |
| Or4a2 |
T |
C |
2: 89,248,217 (GRCm39) |
Y180C |
probably damaging |
Het |
| Phldb2 |
C |
A |
16: 45,621,977 (GRCm39) |
A623S |
probably damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,610,161 (GRCm39) |
T411I |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,974,773 (GRCm39) |
R429Q |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,849,741 (GRCm39) |
|
probably null |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pnp |
G |
A |
14: 51,188,887 (GRCm39) |
V227I |
probably benign |
Het |
| Pskh1 |
T |
C |
8: 106,639,886 (GRCm39) |
S189P |
possibly damaging |
Het |
| Rbpms2 |
T |
G |
9: 65,556,632 (GRCm39) |
V24G |
probably damaging |
Het |
| Robo3 |
T |
A |
9: 37,336,129 (GRCm39) |
I446L |
probably benign |
Het |
| Septin8 |
A |
T |
11: 53,425,949 (GRCm39) |
K174I |
probably damaging |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Slco4a1 |
A |
G |
2: 180,106,604 (GRCm39) |
Y262C |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Spidr |
T |
C |
16: 15,784,512 (GRCm39) |
S519G |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,132,193 (GRCm39) |
N218S |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,056,270 (GRCm39) |
V381A |
probably benign |
Het |
| Svil |
T |
C |
18: 5,062,247 (GRCm39) |
S769P |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,061,732 (GRCm39) |
C2595S |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,640,143 (GRCm39) |
Y858C |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,343,425 (GRCm39) |
V146A |
probably benign |
Het |
| Traf3ip1 |
G |
T |
1: 91,455,361 (GRCm39) |
E578D |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,663 (GRCm39) |
Y247C |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,826,729 (GRCm39) |
W896R |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,125 (GRCm39) |
S2P |
probably benign |
Het |
| Xkr4 |
T |
A |
1: 3,287,033 (GRCm39) |
T386S |
probably damaging |
Het |
| Zdhhc24 |
T |
G |
19: 4,928,889 (GRCm39) |
V38G |
possibly damaging |
Het |
|
| Other mutations in 3425401B19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:3425401B19Rik
|
APN |
14 |
32,382,873 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL00844:3425401B19Rik
|
APN |
14 |
32,384,956 (GRCm39) |
nonsense |
probably null |
|
|
IGL01292:3425401B19Rik
|
APN |
14 |
32,382,831 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01295:3425401B19Rik
|
APN |
14 |
32,383,893 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01457:3425401B19Rik
|
APN |
14 |
32,382,908 (GRCm39) |
missense |
probably benign |
|
|
IGL01470:3425401B19Rik
|
APN |
14 |
32,382,414 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01612:3425401B19Rik
|
APN |
14 |
32,381,988 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01974:3425401B19Rik
|
APN |
14 |
32,381,762 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02095:3425401B19Rik
|
APN |
14 |
32,383,583 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02138:3425401B19Rik
|
APN |
14 |
32,384,672 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02178:3425401B19Rik
|
APN |
14 |
32,384,418 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02245:3425401B19Rik
|
APN |
14 |
32,381,772 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02529:3425401B19Rik
|
APN |
14 |
32,383,190 (GRCm39) |
missense |
probably benign |
|
|
IGL03401:3425401B19Rik
|
APN |
14 |
32,384,223 (GRCm39) |
nonsense |
probably null |
|
|
PIT4515001:3425401B19Rik
|
UTSW |
14 |
32,383,068 (GRCm39) |
nonsense |
probably null |
|
|
R0233:3425401B19Rik
|
UTSW |
14 |
32,385,330 (GRCm39) |
missense |
probably benign |
|
|
R0233:3425401B19Rik
|
UTSW |
14 |
32,385,330 (GRCm39) |
missense |
probably benign |
|
|
R0320:3425401B19Rik
|
UTSW |
14 |
32,384,571 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0519:3425401B19Rik
|
UTSW |
14 |
32,384,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0551:3425401B19Rik
|
UTSW |
14 |
32,384,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0759:3425401B19Rik
|
UTSW |
14 |
32,384,454 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0831:3425401B19Rik
|
UTSW |
14 |
32,384,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1124:3425401B19Rik
|
UTSW |
14 |
32,384,039 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1346:3425401B19Rik
|
UTSW |
14 |
32,382,771 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1997:3425401B19Rik
|
UTSW |
14 |
32,382,005 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2055:3425401B19Rik
|
UTSW |
14 |
32,384,508 (GRCm39) |
missense |
probably benign |
|
|
R2212:3425401B19Rik
|
UTSW |
14 |
32,383,559 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2416:3425401B19Rik
|
UTSW |
14 |
32,385,791 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2441:3425401B19Rik
|
UTSW |
14 |
32,385,449 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2513:3425401B19Rik
|
UTSW |
14 |
32,383,809 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3414:3425401B19Rik
|
UTSW |
14 |
32,383,559 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3800:3425401B19Rik
|
UTSW |
14 |
32,385,025 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3809:3425401B19Rik
|
UTSW |
14 |
32,385,650 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4166:3425401B19Rik
|
UTSW |
14 |
32,382,912 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4581:3425401B19Rik
|
UTSW |
14 |
32,383,828 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4721:3425401B19Rik
|
UTSW |
14 |
32,385,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4769:3425401B19Rik
|
UTSW |
14 |
32,382,174 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4809:3425401B19Rik
|
UTSW |
14 |
32,384,588 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4919:3425401B19Rik
|
UTSW |
14 |
32,385,245 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4925:3425401B19Rik
|
UTSW |
14 |
32,385,137 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4972:3425401B19Rik
|
UTSW |
14 |
32,383,361 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5068:3425401B19Rik
|
UTSW |
14 |
32,383,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5069:3425401B19Rik
|
UTSW |
14 |
32,383,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5070:3425401B19Rik
|
UTSW |
14 |
32,383,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5258:3425401B19Rik
|
UTSW |
14 |
32,385,266 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5435:3425401B19Rik
|
UTSW |
14 |
32,383,413 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5549:3425401B19Rik
|
UTSW |
14 |
32,384,993 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5678:3425401B19Rik
|
UTSW |
14 |
32,384,010 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5680:3425401B19Rik
|
UTSW |
14 |
32,384,010 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5872:3425401B19Rik
|
UTSW |
14 |
32,382,309 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5896:3425401B19Rik
|
UTSW |
14 |
32,383,632 (GRCm39) |
nonsense |
probably null |
|
|
R5940:3425401B19Rik
|
UTSW |
14 |
32,384,645 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6044:3425401B19Rik
|
UTSW |
14 |
32,382,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6136:3425401B19Rik
|
UTSW |
14 |
32,384,239 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6277:3425401B19Rik
|
UTSW |
14 |
32,385,651 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6385:3425401B19Rik
|
UTSW |
14 |
32,383,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6728:3425401B19Rik
|
UTSW |
14 |
32,384,645 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6984:3425401B19Rik
|
UTSW |
14 |
32,383,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7047:3425401B19Rik
|
UTSW |
14 |
32,382,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7493:3425401B19Rik
|
UTSW |
14 |
32,385,257 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7575:3425401B19Rik
|
UTSW |
14 |
32,384,589 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7742:3425401B19Rik
|
UTSW |
14 |
32,384,714 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7747:3425401B19Rik
|
UTSW |
14 |
32,385,026 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7784:3425401B19Rik
|
UTSW |
14 |
32,381,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8098:3425401B19Rik
|
UTSW |
14 |
32,384,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8111:3425401B19Rik
|
UTSW |
14 |
32,382,266 (GRCm39) |
nonsense |
probably null |
|
|
R8171:3425401B19Rik
|
UTSW |
14 |
32,383,982 (GRCm39) |
missense |
probably benign |
|
|
R8276:3425401B19Rik
|
UTSW |
14 |
32,385,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8330:3425401B19Rik
|
UTSW |
14 |
32,381,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8422:3425401B19Rik
|
UTSW |
14 |
32,384,254 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8464:3425401B19Rik
|
UTSW |
14 |
32,381,934 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8880:3425401B19Rik
|
UTSW |
14 |
32,382,837 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8898:3425401B19Rik
|
UTSW |
14 |
32,383,001 (GRCm39) |
nonsense |
probably null |
|
|
R8911:3425401B19Rik
|
UTSW |
14 |
32,383,626 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8934:3425401B19Rik
|
UTSW |
14 |
32,382,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9094:3425401B19Rik
|
UTSW |
14 |
32,382,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9399:3425401B19Rik
|
UTSW |
14 |
32,384,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9435:3425401B19Rik
|
UTSW |
14 |
32,382,562 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9485:3425401B19Rik
|
UTSW |
14 |
32,383,400 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9766:3425401B19Rik
|
UTSW |
14 |
32,385,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0025:3425401B19Rik
|
UTSW |
14 |
32,384,426 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:3425401B19Rik
|
UTSW |
14 |
32,383,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:3425401B19Rik
|
UTSW |
14 |
32,381,765 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTGGTTTCAGCAATGTCC -3'
(R):5'- TCAATCTTGTGACAGCCGGC -3'
Sequencing Primer
(F):5'- GGTGGTTTCAGCAATGTCCTTTCTC -3'
(R):5'- GCCTCCGGCTCTCAAAAATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation