Incidental Mutation 'R9094:3425401B19Rik'
ID |
691239 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
3425401B19Rik
|
Ensembl Gene |
ENSMUSG00000071540 |
Gene Name |
RIKEN cDNA 3425401B19 gene |
Synonyms |
|
MMRRC Submission |
068909-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R9094 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 32382614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 1117
(S1117L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
AlphaFold |
D3Z1D3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096038
AA Change: S1117L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093741 Gene: ENSMUSG00000071540 AA Change: S1117L
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: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
96% (67/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110021N24Rik |
T |
C |
4: 108,637,744 (GRCm39) |
V37A |
unknown |
Het |
Abi3bp |
A |
G |
16: 56,456,590 (GRCm39) |
I1021V |
probably benign |
Het |
Agrn |
C |
A |
4: 156,253,264 (GRCm39) |
K1848N |
probably benign |
Het |
Anln |
A |
G |
9: 22,249,283 (GRCm39) |
V1005A |
probably benign |
Het |
Arb2a |
A |
G |
13: 78,311,725 (GRCm39) |
K356R |
possibly damaging |
Het |
Arid3b |
A |
G |
9: 57,741,327 (GRCm39) |
Y40H |
probably damaging |
Het |
Bco1 |
A |
C |
8: 117,859,917 (GRCm39) |
D540A |
probably benign |
Het |
Blnk |
A |
G |
19: 40,982,482 (GRCm39) |
I7T |
probably benign |
Het |
Brca2 |
T |
G |
5: 150,475,770 (GRCm39) |
D2493E |
probably benign |
Het |
Bsn |
T |
A |
9: 107,988,052 (GRCm39) |
M2567L |
unknown |
Het |
Cacna1e |
T |
A |
1: 154,355,064 (GRCm39) |
Y693F |
possibly damaging |
Het |
Catsperg1 |
G |
C |
7: 28,884,152 (GRCm39) |
T987R |
probably damaging |
Het |
Cpa4 |
G |
T |
6: 30,574,393 (GRCm39) |
D61Y |
possibly damaging |
Het |
Cpne1 |
A |
C |
2: 155,921,080 (GRCm39) |
V70G |
probably damaging |
Het |
Dnase1l3 |
A |
T |
14: 7,987,306 (GRCm38) |
N81K |
probably damaging |
Het |
Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
Fbxo34 |
C |
G |
14: 47,767,928 (GRCm39) |
H480Q |
probably benign |
Het |
Frmd4b |
T |
C |
6: 97,398,559 (GRCm39) |
E96G |
|
Het |
Gdpgp1 |
T |
A |
7: 79,888,216 (GRCm39) |
D82E |
probably benign |
Het |
Gjb3 |
GCCAGATGCGCCCA |
GCCAGATGCGCCCAGATGCGCCCA |
4: 127,220,458 (GRCm39) |
|
probably null |
Het |
Grpel1 |
A |
G |
5: 36,626,823 (GRCm39) |
N35S |
probably benign |
Het |
Il12rb1 |
A |
G |
8: 71,273,291 (GRCm39) |
T665A |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,301,559 (GRCm39) |
T886A |
probably benign |
Het |
Insig1 |
T |
A |
5: 28,278,570 (GRCm39) |
C128* |
probably null |
Het |
Kcnk10 |
T |
A |
12: 98,484,775 (GRCm39) |
E120D |
probably benign |
Het |
Kctd1 |
T |
C |
18: 15,195,369 (GRCm39) |
N418S |
possibly damaging |
Het |
Kifbp |
A |
G |
10: 62,395,037 (GRCm39) |
V535A |
probably damaging |
Het |
Klhl20 |
T |
A |
1: 160,933,055 (GRCm39) |
H251L |
probably damaging |
Het |
Ldlrad3 |
T |
C |
2: 101,888,326 (GRCm39) |
D127G |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,903,182 (GRCm39) |
Y388C |
probably damaging |
Het |
Lrrc4 |
G |
A |
6: 28,830,206 (GRCm39) |
R47W |
possibly damaging |
Het |
Luzp1 |
A |
T |
4: 136,272,562 (GRCm39) |
D1022V |
probably damaging |
Het |
Mllt1 |
C |
A |
17: 57,212,737 (GRCm39) |
R132L |
probably damaging |
Het |
Ncoa1 |
G |
T |
12: 4,345,494 (GRCm39) |
H618N |
possibly damaging |
Het |
Nelfcd |
T |
C |
2: 174,265,861 (GRCm39) |
S318P |
probably damaging |
Het |
Ngly1 |
A |
C |
14: 16,280,721 (GRCm38) |
T301P |
probably damaging |
Het |
Npy5r |
G |
A |
8: 67,133,560 (GRCm39) |
T411I |
probably damaging |
Het |
Or55b10 |
T |
C |
7: 102,143,568 (GRCm39) |
E138G |
possibly damaging |
Het |
Or5d46 |
A |
G |
2: 88,170,248 (GRCm39) |
N113S |
probably benign |
Het |
Pcdha6 |
T |
A |
18: 37,101,593 (GRCm39) |
I262N |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Pm20d1 |
C |
A |
1: 131,730,481 (GRCm39) |
A245D |
possibly damaging |
Het |
Rars1 |
T |
C |
11: 35,718,182 (GRCm39) |
|
probably benign |
Het |
Rbms2 |
T |
A |
10: 127,987,107 (GRCm39) |
I62F |
probably damaging |
Het |
Rev3l |
A |
T |
10: 39,700,809 (GRCm39) |
T1769S |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,378,854 (GRCm39) |
Y1061H |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,500,240 (GRCm39) |
I26F |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rtkn |
A |
T |
6: 83,128,018 (GRCm39) |
N406Y |
possibly damaging |
Het |
Rtn4r |
A |
T |
16: 17,969,708 (GRCm39) |
I379F |
possibly damaging |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Slmap |
T |
C |
14: 26,137,355 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
A |
T |
9: 41,975,050 (GRCm39) |
N519K |
possibly damaging |
Het |
Srebf2 |
A |
T |
15: 82,056,975 (GRCm39) |
I237F |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,242,651 (GRCm39) |
S1479G |
possibly damaging |
Het |
Tbc1d24 |
C |
A |
17: 24,400,274 (GRCm39) |
E537* |
probably null |
Het |
Ttf1 |
T |
A |
2: 28,957,080 (GRCm39) |
I450K |
probably benign |
Het |
Ube2e2 |
A |
G |
14: 18,893,288 (GRCm38) |
S2P |
unknown |
Het |
Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
Vmn2r25 |
C |
T |
6: 123,805,391 (GRCm39) |
V489I |
probably benign |
Het |
Wfdc8 |
C |
T |
2: 164,439,245 (GRCm39) |
R379H |
unknown |
Het |
Zeb2 |
C |
T |
2: 45,003,136 (GRCm39) |
|
probably benign |
Het |
Zfp3 |
C |
T |
11: 70,663,241 (GRCm39) |
T400I |
probably benign |
Het |
Zfp760 |
T |
C |
17: 21,941,932 (GRCm39) |
I369T |
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 |
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 |
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'- TCCTCTGTGAAGGACTTGCC -3'
(R):5'- CTAGGAGAGAGCAGCACTTG -3'
Sequencing Primer
(F):5'- TGAAGGACTTGCCCTCCCAG -3'
(R):5'- GCACTTGCTCTCCCGCAG -3'
|
Posted On |
2021-12-30 |