Incidental Mutation 'R4385:A530032D15Rik'
ID326142
Institutional Source Beutler Lab
Gene Symbol A530032D15Rik
Ensembl Gene ENSMUSG00000089844
Gene NameRIKEN cDNA A530032D15Rik gene
SynonymsLOC381287
MMRRC Submission 041124-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.411) question?
Stock #R4385 (G1)
Quality Score155
Status Not validated
Chromosome1
Chromosomal Location85083069-85109853 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 85109336 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160792] [ENSMUST00000161267] [ENSMUST00000161675] [ENSMUST00000161724] [ENSMUST00000162421]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159114
Predicted Effect probably null
Transcript: ENSMUST00000160792
SMART Domains Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 23 125 9.7e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161150
Predicted Effect probably benign
Transcript: ENSMUST00000161267
SMART Domains Protein: ENSMUSP00000124435
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 119 1.8e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161666
Predicted Effect probably null
Transcript: ENSMUST00000161675
SMART Domains Protein: ENSMUSP00000123812
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 23 121 3.7e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161724
SMART Domains Protein: ENSMUSP00000123750
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 24 122 2.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162353
Predicted Effect probably benign
Transcript: ENSMUST00000162421
SMART Domains Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 40 135 2.2e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162453
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,326,208 S251P possibly damaging Het
Abcc3 A T 11: 94,368,239 I426N probably damaging Het
Abcc6 C T 7: 45,995,328 V808I possibly damaging Het
Adam23 T C 1: 63,566,628 Y624H probably damaging Het
Apbb1 A G 7: 105,567,276 S140P probably benign Het
Arhgef10 T A 8: 14,930,157 C132* probably null Het
Boc A T 16: 44,491,182 L726H probably damaging Het
Calr3 T A 8: 72,428,164 D120V probably damaging Het
Cdc27 T C 11: 104,534,814 R59G probably benign Het
Cfap43 T C 19: 47,797,129 R441G probably benign Het
Chsy3 A G 18: 59,176,352 I226V probably benign Het
Chsy3 A T 18: 59,179,474 T340S possibly damaging Het
Cnot10 T A 9: 114,631,881 K74* probably null Het
Col5a1 A C 2: 28,024,779 M136L probably damaging Het
Coro2a A T 4: 46,541,961 I387N possibly damaging Het
Csnk1g1 T C 9: 66,019,908 V119A probably damaging Het
Cyfip2 C T 11: 46,242,403 M823I probably benign Het
Dcbld2 A G 16: 58,463,066 K555E probably damaging Het
Dpep3 A G 8: 105,978,186 M164T probably damaging Het
Flg C A 3: 93,293,009 probably benign Het
Gm13089 C T 4: 143,698,014 probably null Het
Hecw1 C T 13: 14,316,164 D748N probably damaging Het
Ift172 T C 5: 31,286,967 D37G probably damaging Het
Iglc1 A T 16: 19,061,758 C104* probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 probably benign Het
Klk1 A T 7: 44,228,569 D83V probably benign Het
Klk9 T C 7: 43,794,275 V71A probably benign Het
Loxhd1 A G 18: 77,372,911 K806R probably damaging Het
Metap1 T C 3: 138,475,063 E119G possibly damaging Het
Nbea T C 3: 56,000,638 H1351R possibly damaging Het
Nim1k T C 13: 119,712,626 D244G probably damaging Het
Npas1 C T 7: 16,459,185 probably null Het
Pcdh15 A G 10: 74,550,490 D1136G probably damaging Het
Pde6b A G 5: 108,427,642 I657V probably benign Het
Pi4ka A G 16: 17,386,265 V55A probably benign Het
Plxnb2 T C 15: 89,160,623 N1173S probably damaging Het
Ptpn13 T C 5: 103,533,407 probably null Het
Ptprb A G 10: 116,346,867 S1483G probably benign Het
Rbm48 G A 5: 3,590,300 P360S probably damaging Het
Rbp3 G C 14: 33,955,296 E400D probably benign Het
Rfpl4 A G 7: 5,110,670 S165P possibly damaging Het
Scn9a A T 2: 66,484,556 L1595Q probably damaging Het
Scp2 A T 4: 108,071,350 V381D probably damaging Het
Sec24c G A 14: 20,690,773 V620M probably damaging Het
Slc30a9 T C 5: 67,315,767 Y65H probably damaging Het
Sorcs1 A G 19: 50,190,161 I841T probably benign Het
Spag7 C T 11: 70,669,203 A27T probably damaging Het
St6galnac6 A G 2: 32,615,024 I181V possibly damaging Het
Tm9sf3 T C 19: 41,247,933 M130V probably damaging Het
Ugt3a1 C T 15: 9,306,479 S238F probably benign Het
Usp9y G A Y: 1,304,756 L2363F probably damaging Het
Vmn1r34 T A 6: 66,637,139 H205L probably damaging Het
Vps50 C A 6: 3,516,694 Q59K probably benign Het
Zeb2 T A 2: 45,023,062 D39V probably damaging Het
Zfp146 G A 7: 30,162,422 T65I probably benign Het
Zfp36 T C 7: 28,377,691 D264G probably benign Het
Other mutations in A530032D15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4340:A530032D15Rik UTSW 1 85109351 missense probably damaging 0.99
PIT4131001:A530032D15Rik UTSW 1 85099620 missense probably benign 0.01
PIT4142001:A530032D15Rik UTSW 1 85099620 missense probably benign 0.01
R0602:A530032D15Rik UTSW 1 85099505 missense probably benign 0.00
R0831:A530032D15Rik UTSW 1 85099505 missense probably benign 0.00
R1147:A530032D15Rik UTSW 1 85099505 missense probably benign 0.00
R1852:A530032D15Rik UTSW 1 85085131 unclassified probably benign
R4277:A530032D15Rik UTSW 1 85088800 intron probably benign
R4391:A530032D15Rik UTSW 1 85085131 unclassified probably benign
R4691:A530032D15Rik UTSW 1 85088800 intron probably benign
R4863:A530032D15Rik UTSW 1 85088800 intron probably benign
R5173:A530032D15Rik UTSW 1 85100567 nonsense probably null
R5176:A530032D15Rik UTSW 1 85088800 intron probably benign
Predicted Primers PCR Primer
(F):5'- GATTCAATGCTGTCACCTGGC -3'
(R):5'- TTCCTTAGAAGGCAGCAGGC -3'

Sequencing Primer
(F):5'- GGCCCTTGTTACCTCGGAATC -3'
(R):5'- AGGCGTCCCAGGTTTCTG -3'
Posted On2015-07-06