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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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