Incidental Mutation 'R6277:3425401B19Rik'
ID 507742
Institutional Source Beutler Lab
Gene Symbol 3425401B19Rik
Ensembl Gene ENSMUSG00000071540
Gene Name RIKEN cDNA 3425401B19 gene
Synonyms
MMRRC Submission 044447-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6277 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 32381076-32407250 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32385651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 105 (Y105H)
Ref Sequence ENSEMBL: ENSMUSP00000093741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096038]
AlphaFold D3Z1D3
Predicted Effect possibly damaging
Transcript: ENSMUST00000096038
AA Change: Y105H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: Y105H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226958
Meta Mutation Damage Score 0.0891 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.2%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A T 4: 103,088,668 (GRCm39) Y179* probably null Het
Abca7 G C 10: 79,841,992 (GRCm39) V1042L probably benign Het
Adck5 C A 15: 76,477,463 (GRCm39) T99K possibly damaging Het
Adcy5 A G 16: 35,109,896 (GRCm39) T823A probably benign Het
Adra1d G T 2: 131,403,083 (GRCm39) R336S probably damaging Het
Arhgap39 A T 15: 76,619,337 (GRCm39) M749K probably damaging Het
Arid4a A G 12: 71,086,665 (GRCm39) R168G possibly damaging Het
Atxn10 A G 15: 85,275,893 (GRCm39) T317A probably benign Het
Bicc1 T C 10: 70,863,731 (GRCm39) K22E possibly damaging Het
Cacna1b T G 2: 24,620,808 (GRCm39) T281P probably damaging Het
Ccdc174 A T 6: 91,857,272 (GRCm39) Q26L probably damaging Het
Celf3 T C 3: 94,392,672 (GRCm39) C124R probably damaging Het
Cfap44 A G 16: 44,257,669 (GRCm39) E1068G probably benign Het
Crybg1 T A 10: 43,873,255 (GRCm39) E1284D probably benign Het
Dcbld2 T A 16: 58,272,119 (GRCm39) Y392N probably damaging Het
Dcbld2 C T 16: 58,285,866 (GRCm39) P675L probably damaging Het
Dnah12 A T 14: 26,492,439 (GRCm39) H1193L probably damaging Het
Efcab3 G C 11: 104,901,148 (GRCm39) E4422D possibly damaging Het
Ern2 A G 7: 121,785,330 (GRCm39) F16L probably benign Het
Fam163b G T 2: 27,002,763 (GRCm39) T78N probably benign Het
Fbxw21 A T 9: 108,974,623 (GRCm39) I299K possibly damaging Het
Foxg1 A G 12: 49,432,299 (GRCm39) N344S probably benign Het
Git2 A G 5: 114,871,308 (GRCm39) I202T probably damaging Het
Gm11595 G T 11: 99,663,510 (GRCm39) P57T unknown Het
Gm12258 G A 11: 58,745,113 (GRCm39) V15M probably damaging Het
Gm15056 C T 8: 21,390,914 (GRCm39) G40S probably damaging Het
Gnal C A 18: 67,346,143 (GRCm39) H274Q probably damaging Het
Hormad2 A T 11: 4,371,583 (GRCm39) probably null Het
Ighv7-2 A G 12: 113,876,087 (GRCm39) I6T probably benign Het
Irf9 A G 14: 55,845,109 (GRCm39) D323G probably benign Het
Klhl23 G T 2: 69,664,096 (GRCm39) D482Y probably damaging Het
Lama4 A G 10: 38,982,006 (GRCm39) N1745S probably damaging Het
Lct T A 1: 128,231,974 (GRCm39) Y625F probably benign Het
Lrrc26 T C 2: 25,180,116 (GRCm39) V39A probably benign Het
Mllt6 G A 11: 97,564,774 (GRCm39) A527T probably damaging Het
Mrgprb4 T A 7: 47,848,649 (GRCm39) D93V probably benign Het
Nlrp5 A G 7: 23,120,880 (GRCm39) D698G probably damaging Het
Or13p10 T A 4: 118,523,520 (GRCm39) S269T probably benign Het
Pacsin1 T A 17: 27,924,969 (GRCm39) probably null Het
Padi3 A T 4: 140,518,472 (GRCm39) probably null Het
Pcdha8 T C 18: 37,127,411 (GRCm39) I631T probably damaging Het
Pkn3 G A 2: 29,972,957 (GRCm39) G315D possibly damaging Het
Ppfibp1 T A 6: 146,907,422 (GRCm39) D228E probably benign Het
Prag1 G T 8: 36,613,745 (GRCm39) R1099L probably damaging Het
Pramel31 A G 4: 144,090,223 (GRCm39) E421G probably damaging Het
Prr36 A G 8: 4,264,746 (GRCm39) probably benign Het
Prrc2c A G 1: 162,541,883 (GRCm39) S369P probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Slc9c1 G A 16: 45,427,204 (GRCm39) probably benign Het
Slit1 G A 19: 41,588,948 (GRCm39) T1513I possibly damaging Het
Smcr8 C T 11: 60,669,635 (GRCm39) T261M probably benign Het
Spata17 G A 1: 186,926,151 (GRCm39) R60* probably null Het
Speer4f1 A G 5: 17,681,241 (GRCm39) R40G probably damaging Het
Spns3 A G 11: 72,420,466 (GRCm39) V340A possibly damaging Het
Srgap3 T C 6: 112,716,344 (GRCm39) I595V probably benign Het
Srms G A 2: 180,848,038 (GRCm39) A489V possibly damaging Het
St3gal4 T C 9: 34,964,558 (GRCm39) N169S probably damaging Het
Taar5 T A 10: 23,847,169 (GRCm39) V189E probably damaging Het
Tbc1d32 G A 10: 56,071,525 (GRCm39) P333L probably benign Het
Tet3 G T 6: 83,345,066 (GRCm39) Y1790* probably null Het
Ticrr T A 7: 79,344,444 (GRCm39) H1436Q probably benign Het
Top6bl G T 19: 4,677,250 (GRCm39) S466* probably null Het
Ubl7 C T 9: 57,830,555 (GRCm39) L334F possibly damaging Het
Unc13a A G 8: 72,119,283 (GRCm39) probably null Het
Unc13c T C 9: 73,606,451 (GRCm39) D1303G probably damaging Het
Vmn2r114 A G 17: 23,509,954 (GRCm39) L842P possibly damaging Het
Vps35 G T 8: 85,987,857 (GRCm39) Q765K possibly damaging Het
Zfp87 G T 13: 74,520,643 (GRCm39) S145* probably null Het
Zgrf1 C T 3: 127,392,461 (GRCm39) A1327V possibly damaging Het
Zkscan6 T A 11: 65,718,983 (GRCm39) S334R probably benign 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
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'- AGTTGACACCACTTTCTGGG -3'
(R):5'- TTCCATGACTCTGACCTGGC -3'

Sequencing Primer
(F):5'- CACTTTCTGGGGGATGTGCAAAC -3'
(R):5'- GACTCTGACCTGGCCCTGTC -3'
Posted On 2018-03-15