Incidental Mutation 'R7047:3425401B19Rik'
ID 547385
Institutional Source Beutler Lab
Gene Symbol 3425401B19Rik
Ensembl Gene ENSMUSG00000071540
Gene Name RIKEN cDNA 3425401B19 gene
Synonyms
MMRRC Submission 045145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7047 (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 T at 32382131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1278 (I1278N)
Ref Sequence ENSEMBL: ENSMUSP00000093741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096038]
AlphaFold D3Z1D3
Predicted Effect possibly damaging
Transcript: ENSMUST00000096038
AA Change: I1278N

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: I1278N

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 T A 16: 35,087,585 (GRCm39) L482Q probably damaging Het
Adora2a A G 10: 75,162,145 (GRCm39) I95V probably damaging Het
Anapc1 A C 2: 128,457,350 (GRCm39) C1887G probably damaging Het
Arfgef2 T A 2: 166,693,865 (GRCm39) probably null Het
Capn11 G T 17: 45,949,622 (GRCm39) S448* probably null Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cep55 T A 19: 38,048,539 (GRCm39) V65D possibly damaging Het
Col5a1 A G 2: 27,818,096 (GRCm39) K107R unknown Het
Dbh T A 2: 27,055,622 (GRCm39) I32N possibly damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dzip3 A T 16: 48,802,489 (GRCm39) N13K probably benign Het
Emilin1 A G 5: 31,074,422 (GRCm39) N221S probably benign Het
Ext2 A G 2: 93,570,002 (GRCm39) F470L probably damaging Het
Filip1 T A 9: 79,760,916 (GRCm39) Q206L probably damaging Het
Garin1b T A 6: 29,323,809 (GRCm39) L178H probably damaging Het
Gpr63 G T 4: 25,007,320 (GRCm39) A15S probably benign Het
Grhl3 T C 4: 135,276,551 (GRCm39) probably null Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Ift172 G T 5: 31,433,238 (GRCm39) Y193* probably null Het
Ints1 A C 5: 139,744,226 (GRCm39) L1512* probably null Het
Kat2b A G 17: 53,970,597 (GRCm39) Q661R probably benign Het
Kat6a A G 8: 23,428,554 (GRCm39) N1303S possibly damaging Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Maml2 T C 9: 13,532,177 (GRCm39) probably benign Het
Mixl1 A G 1: 180,524,183 (GRCm39) probably null Het
Mocs1 T C 17: 49,759,887 (GRCm39) probably null Het
Ms4a15 T G 19: 10,962,236 (GRCm39) N36T probably damaging Het
Msr1 G A 8: 40,095,657 (GRCm39) T2I possibly damaging Het
Nlgn1 A C 3: 25,490,199 (GRCm39) Y509* probably null Het
Nsmce1 C A 7: 125,090,606 (GRCm39) G4C probably benign Het
Or4c113 A T 2: 88,885,490 (GRCm39) F93L probably damaging Het
Or51v15-ps1 A G 7: 103,278,918 (GRCm39) V83A probably damaging Het
Pan3 G A 5: 147,483,175 (GRCm39) G452D probably damaging Het
Pcyox1 G T 6: 86,365,891 (GRCm39) P441H probably damaging Het
Phf12 T C 11: 77,904,099 (GRCm39) V273A probably damaging Het
Plcd4 A G 1: 74,591,148 (GRCm39) E181G possibly damaging Het
Ptgfr A T 3: 151,541,178 (GRCm39) I110N possibly damaging Het
Rab40c A C 17: 26,138,458 (GRCm39) V8G probably damaging Het
Rasal3 T A 17: 32,615,458 (GRCm39) Y460F probably damaging Het
Rhbdf2 A G 11: 116,494,477 (GRCm39) probably null Het
Ryr2 T A 13: 11,839,286 (GRCm39) N496Y possibly damaging Het
Sacs A T 14: 61,450,451 (GRCm39) I4166F probably damaging Het
Sh2d3c T C 2: 32,611,172 (GRCm39) M1T probably null Het
Smarca2 C T 19: 26,646,555 (GRCm39) S651L possibly damaging Het
Sned1 A T 1: 93,213,540 (GRCm39) R1204S possibly damaging Het
Spata31d1b T C 13: 59,860,249 (GRCm39) Y41H probably damaging Het
Stab2 C T 10: 86,694,016 (GRCm39) C2075Y probably damaging Het
Tcte1 A T 17: 45,844,294 (GRCm39) Q90L possibly damaging Het
Tll2 C T 19: 41,074,679 (GRCm39) G945S probably damaging Het
Tmbim7 A T 5: 3,720,112 (GRCm39) T116S probably benign Het
Tnfrsf19 A T 14: 61,242,667 (GRCm39) C72* probably null Het
Usp17le T A 7: 104,417,640 (GRCm39) T501S probably benign Het
Wnt5b T A 6: 119,425,217 (GRCm39) 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
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
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'- CAGAACCCTGCCTGAGAAAG -3'
(R):5'- TCCTTCACAGAGGACACTCAGG -3'

Sequencing Primer
(F):5'- TGGGGGCTGCAAGCTGAG -3'
(R):5'- AAGGCCTGTGTCTCCTGGAAAG -3'
Posted On 2019-05-13