Incidental Mutation 'R4458:A630076J17Rik'
ID 329993
Institutional Source Beutler Lab
Gene Symbol A630076J17Rik
Ensembl Gene ENSMUSG00000094613
Gene Name RIKEN cDNA A630076J17 gene
Synonyms
MMRRC Submission 041718-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4458 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 107137930-107141347 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 107139997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049852] [ENSMUST00000179399] [ENSMUST00000197758]
AlphaFold J3QQ32
Predicted Effect probably benign
Transcript: ENSMUST00000049852
SMART Domains Protein: ENSMUSP00000060617
Gene: ENSMUSG00000070368

DomainStartEndE-ValueType
Pfam:Prokineticin 1 97 2.7e-49 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000179399
Predicted Effect probably benign
Transcript: ENSMUST00000197758
SMART Domains Protein: ENSMUSP00000143197
Gene: ENSMUSG00000070368

DomainStartEndE-ValueType
Pfam:Prokineticin 1 81 1.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198732
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,389,213 (GRCm39) D2377G probably damaging Het
Ankrd44 A T 1: 54,801,550 (GRCm39) I56N possibly damaging Het
Apob T A 12: 8,065,445 (GRCm39) I4105N probably damaging Het
Arhgap5 T A 12: 52,564,740 (GRCm39) N570K probably benign Het
Arid1b A T 17: 5,293,191 (GRCm39) Q703L probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cad T A 5: 31,218,570 (GRCm39) V499D probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Celsr2 A C 3: 108,302,313 (GRCm39) I2605S probably damaging Het
Chd6 T A 2: 160,871,796 (GRCm39) Y213F possibly damaging Het
Clec18a T A 8: 111,802,102 (GRCm39) T296S probably damaging Het
Crybg2 C T 4: 133,802,205 (GRCm39) P1122S probably benign Het
Cyld G T 8: 89,445,929 (GRCm39) S309I probably benign Het
Dctn5 G T 7: 121,734,303 (GRCm39) R49L probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Erbin C A 13: 103,970,065 (GRCm39) V1184F probably damaging Het
Ercc2 G T 7: 19,127,771 (GRCm39) R406L probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Flad1 T C 3: 89,316,241 (GRCm39) H107R probably benign Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gabbr1 G T 17: 37,378,667 (GRCm39) probably null Het
Haghl A T 17: 26,003,994 (GRCm39) V30E probably damaging Het
Itga5 C T 15: 103,258,630 (GRCm39) E822K probably damaging Het
Klhl26 T A 8: 70,905,342 (GRCm39) E108D possibly damaging Het
Kpnb1 A T 11: 97,059,996 (GRCm39) L558Q probably damaging Het
Lias T C 5: 65,551,383 (GRCm39) probably null Het
Ltbp1 A T 17: 75,583,502 (GRCm39) K434M possibly damaging Het
Marchf1 C A 8: 66,908,823 (GRCm39) A177E probably damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nol4 T C 18: 22,885,052 (GRCm39) I419V probably damaging Het
Nol6 A G 4: 41,115,888 (GRCm39) L1068P probably damaging Het
Nrcam T C 12: 44,606,513 (GRCm39) S420P probably damaging Het
Or10c1 A T 17: 37,522,204 (GRCm39) I180N possibly damaging Het
Pitpnm2 T C 5: 124,259,439 (GRCm39) T1299A probably benign Het
Prdm16 A G 4: 154,406,765 (GRCm39) V1220A probably benign Het
Saraf T C 8: 34,621,870 (GRCm39) S25P unknown Het
Serpine3 C A 14: 62,911,922 (GRCm39) L295I probably damaging Het
Sntb2 G A 8: 107,718,239 (GRCm39) probably null Het
Surf6 T C 2: 26,782,721 (GRCm39) E202G probably benign Het
Tent5a T C 9: 85,208,527 (GRCm39) I99V possibly damaging Het
Th A T 7: 142,450,690 (GRCm39) D135E probably benign Het
Traf1 A G 2: 34,835,445 (GRCm39) Y326H probably damaging Het
Tshz2 G A 2: 169,727,008 (GRCm39) A66T probably benign Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Ubqlnl A G 7: 103,798,396 (GRCm39) V367A probably benign Het
Uspl1 T A 5: 149,150,962 (GRCm39) S707T possibly damaging Het
Utp18 A G 11: 93,761,359 (GRCm39) S350P possibly damaging Het
Vmn1r177 A G 7: 23,565,645 (GRCm39) V77A possibly damaging Het
Vmn1r229 A G 17: 21,034,894 (GRCm39) I46M probably damaging Het
Vnn3 T C 10: 23,741,567 (GRCm39) Y291H probably benign Het
Vps9d1 A G 8: 123,974,487 (GRCm39) S267P probably benign Het
Wrn T A 8: 33,785,026 (GRCm39) T692S probably damaging Het
Yeats2 T C 16: 20,032,071 (GRCm39) I19T probably damaging Het
Zfp13 G A 17: 23,800,150 (GRCm39) A36V probably benign Het
Other mutations in A630076J17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2204:A630076J17Rik UTSW 3 107,140,943 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- GGGAAGACACTTTTGCTAACCTTC -3'
(R):5'- ACATCGAGGCTTTGTGTGC -3'

Sequencing Primer
(F):5'- TGACAGATTGTACGGCCATC -3'
(R):5'- GCTTTGTGTGCAGTTTATTAAAAAGC -3'
Posted On 2015-07-21