Incidental Mutation 'R4721:3425401B19Rik'
ID |
354489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
3425401B19Rik
|
Ensembl Gene |
ENSMUSG00000071540 |
Gene Name |
RIKEN cDNA 3425401B19 gene |
Synonyms |
|
MMRRC Submission |
041986-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R4721 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32385107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 286
(D286G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
AlphaFold |
D3Z1D3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096038
AA Change: D286G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000093741 Gene: ENSMUSG00000071540 AA Change: D286G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226958
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
98% (90/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
G |
A |
7: 119,949,998 (GRCm39) |
E491K |
probably benign |
Het |
Acsl5 |
A |
G |
19: 55,268,962 (GRCm39) |
T208A |
probably benign |
Het |
Adamts10 |
T |
A |
17: 33,764,511 (GRCm39) |
|
probably null |
Het |
Ahcyl1 |
T |
C |
3: 107,577,233 (GRCm39) |
Q313R |
possibly damaging |
Het |
Ccdc71 |
C |
T |
9: 108,340,622 (GRCm39) |
S145L |
possibly damaging |
Het |
Cep250 |
A |
G |
2: 155,812,119 (GRCm39) |
T472A |
probably damaging |
Het |
Copa |
T |
C |
1: 171,931,841 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
C |
A |
10: 43,873,883 (GRCm39) |
R1075L |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,832,809 (GRCm39) |
K84* |
probably null |
Het |
Ddx59 |
C |
T |
1: 136,344,844 (GRCm39) |
P172S |
probably benign |
Het |
Dhx34 |
T |
A |
7: 15,931,307 (GRCm39) |
Q1118L |
possibly damaging |
Het |
Dkkl1 |
T |
A |
7: 44,857,232 (GRCm39) |
I112F |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,944,140 (GRCm39) |
C1786S |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,788,525 (GRCm39) |
D520V |
possibly damaging |
Het |
Ergic1 |
T |
A |
17: 26,857,750 (GRCm39) |
V192E |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,941,262 (GRCm39) |
E1343G |
probably damaging |
Het |
Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm15446 |
C |
T |
5: 110,090,866 (GRCm39) |
H373Y |
probably damaging |
Het |
Gpr157 |
A |
T |
4: 150,183,420 (GRCm39) |
N197Y |
probably benign |
Het |
Grid2 |
G |
A |
6: 64,643,185 (GRCm39) |
M982I |
probably benign |
Het |
Hey2 |
G |
T |
10: 30,710,304 (GRCm39) |
R150S |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,648,322 (GRCm39) |
|
probably null |
Het |
Ighv3-3 |
G |
A |
12: 114,160,156 (GRCm39) |
R85* |
probably null |
Het |
Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
Igsf21 |
A |
G |
4: 139,834,621 (GRCm39) |
S84P |
probably benign |
Het |
Kif20b |
A |
G |
19: 34,915,773 (GRCm39) |
T517A |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,385,863 (GRCm39) |
E244G |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,390,928 (GRCm39) |
T2990A |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 40,605,381 (GRCm39) |
|
probably null |
Het |
Lrrc42 |
A |
T |
4: 107,091,050 (GRCm39) |
S382T |
probably benign |
Het |
Magi2 |
C |
T |
5: 20,739,467 (GRCm39) |
R737W |
probably damaging |
Het |
Mcc |
A |
G |
18: 44,652,623 (GRCm39) |
L267P |
probably damaging |
Het |
Mzf1 |
T |
A |
7: 12,777,223 (GRCm39) |
Q727L |
possibly damaging |
Het |
Mzf1 |
C |
T |
7: 12,777,448 (GRCm39) |
R652Q |
possibly damaging |
Het |
Nkain3 |
C |
T |
4: 20,485,015 (GRCm39) |
A21T |
probably damaging |
Het |
Nlrp4e |
T |
A |
7: 23,020,521 (GRCm39) |
V336E |
possibly damaging |
Het |
Nptn |
C |
T |
9: 58,548,059 (GRCm39) |
R155C |
probably damaging |
Het |
Nr2c2 |
T |
C |
6: 92,116,828 (GRCm39) |
I10T |
possibly damaging |
Het |
Or12e13 |
T |
A |
2: 87,663,515 (GRCm39) |
I44N |
probably damaging |
Het |
Or1e26 |
C |
T |
11: 73,480,273 (GRCm39) |
C97Y |
probably damaging |
Het |
Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
Pdzk1 |
G |
T |
3: 96,776,518 (GRCm39) |
E493* |
probably null |
Het |
Plekhh1 |
GTCAAA |
G |
12: 79,122,194 (GRCm39) |
|
probably null |
Het |
Polr3b |
T |
C |
10: 84,491,867 (GRCm39) |
V342A |
possibly damaging |
Het |
Prg3 |
T |
C |
2: 84,821,750 (GRCm39) |
V125A |
possibly damaging |
Het |
Raph1 |
G |
A |
1: 60,542,160 (GRCm39) |
|
probably benign |
Het |
Rassf2 |
A |
G |
2: 131,846,358 (GRCm39) |
V133A |
probably benign |
Het |
Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
Rbpjl |
A |
C |
2: 164,246,447 (GRCm39) |
S31R |
probably benign |
Het |
Reln |
A |
G |
5: 22,124,220 (GRCm39) |
V2762A |
probably damaging |
Het |
Rxrg |
T |
A |
1: 167,452,621 (GRCm39) |
I141N |
probably damaging |
Het |
Scn7a |
C |
A |
2: 66,514,529 (GRCm39) |
G1082C |
probably damaging |
Het |
Selenon |
C |
A |
4: 134,270,387 (GRCm39) |
E322* |
probably null |
Het |
Sipa1 |
C |
T |
19: 5,710,413 (GRCm39) |
R199Q |
probably damaging |
Het |
Slc26a7 |
A |
T |
4: 14,510,261 (GRCm39) |
|
probably null |
Het |
Slc37a4 |
T |
C |
9: 44,312,787 (GRCm39) |
S314P |
possibly damaging |
Het |
Smarce1 |
T |
C |
11: 99,111,543 (GRCm39) |
I59V |
probably benign |
Het |
Stk19 |
T |
C |
17: 35,042,120 (GRCm39) |
|
probably null |
Het |
Susd2 |
C |
T |
10: 75,473,964 (GRCm39) |
D544N |
probably benign |
Het |
Tcf7l2 |
G |
T |
19: 55,919,886 (GRCm39) |
R465L |
possibly damaging |
Het |
Tfap2d |
T |
A |
1: 19,174,984 (GRCm39) |
S146T |
possibly damaging |
Het |
Tmem156 |
A |
G |
5: 65,248,870 (GRCm39) |
F10S |
probably benign |
Het |
Tmem63c |
G |
T |
12: 87,103,954 (GRCm39) |
A68S |
possibly damaging |
Het |
Tnfrsf21 |
T |
C |
17: 43,396,395 (GRCm39) |
C560R |
probably damaging |
Het |
Trav10n |
C |
T |
14: 53,359,590 (GRCm39) |
T7I |
probably benign |
Het |
Ttc38 |
C |
T |
15: 85,722,947 (GRCm39) |
R132W |
probably benign |
Het |
Tvp23a |
T |
C |
16: 10,245,275 (GRCm39) |
K108R |
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,879 (GRCm39) |
M24V |
probably benign |
Het |
Vmn1r88 |
T |
A |
7: 12,912,451 (GRCm39) |
L269* |
probably null |
Het |
Vmn2r101 |
T |
A |
17: 19,832,287 (GRCm39) |
M761K |
probably damaging |
Het |
Vps13b |
C |
T |
15: 35,910,864 (GRCm39) |
Q3543* |
probably null |
Het |
Wdr37 |
T |
C |
13: 8,904,065 (GRCm39) |
E101G |
possibly damaging |
Het |
Zc3hc1 |
A |
G |
6: 30,374,899 (GRCm39) |
V214A |
probably benign |
Het |
Zcchc9 |
A |
T |
13: 91,948,728 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
T |
1: 63,347,951 (GRCm39) |
Q2110L |
possibly damaging |
Het |
Zfp516 |
T |
G |
18: 82,975,236 (GRCm39) |
L478R |
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 |
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 |
R7249:3425401B19Rik
|
UTSW |
14 |
32,385,271 (GRCm39) |
missense |
possibly damaging |
0.73 |
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'- AGATGTGGATTGGCTCCCTG -3'
(R):5'- CTGGAGAACAAGAGTCTCCCAAG -3'
Sequencing Primer
(F):5'- ATTGGCTCCCTGACGGTGAC -3'
(R):5'- GAAATAGCCTCTCACAGCTCAG -3'
|
Posted On |
2015-10-21 |