Incidental Mutation 'R1392:A930005H10Rik'
ID 200883
Institutional Source Beutler Lab
Gene Symbol A930005H10Rik
Ensembl Gene ENSMUSG00000054426
Gene Name RIKEN cDNA A930005H10 gene
Synonyms
MMRRC Submission 039454-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1392 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 115675227-115681779 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 115681653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043342] [ENSMUST00000106505] [ENSMUST00000185098] [ENSMUST00000189799] [ENSMUST00000200258] [ENSMUST00000196804]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043342
SMART Domains Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554

DomainStartEndE-ValueType
Pfam:TP_methylase 1 241 1.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000067500
SMART Domains Protein: ENSMUSP00000069189
Gene: ENSMUSG00000054426

DomainStartEndE-ValueType
low complexity region 81 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106505
SMART Domains Protein: ENSMUSP00000102114
Gene: ENSMUSG00000033554

DomainStartEndE-ValueType
Pfam:TP_methylase 1 138 3.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185098
SMART Domains Protein: ENSMUSP00000139249
Gene: ENSMUSG00000033554

DomainStartEndE-ValueType
Pfam:TP_methylase 1 177 4.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197561
Predicted Effect probably benign
Transcript: ENSMUST00000189799
SMART Domains Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554

DomainStartEndE-ValueType
Pfam:TP_methylase 1 241 7.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200258
Predicted Effect probably benign
Transcript: ENSMUST00000196804
SMART Domains Protein: ENSMUSP00000142654
Gene: ENSMUSG00000033554

DomainStartEndE-ValueType
Pfam:TP_methylase 1 114 1e-17 PFAM
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 97.1%
  • 10x: 95.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cenpj T C 14: 56,772,311 (GRCm39) probably benign Het
Csf1 A G 3: 107,663,946 (GRCm39) V74A probably benign Het
Dsg4 T A 18: 20,579,304 (GRCm39) probably benign Het
Hnrnpm A T 17: 33,877,389 (GRCm39) S325T possibly damaging Het
Hunk T C 16: 90,269,352 (GRCm39) S299P probably damaging Het
Kcnk4 C T 19: 6,905,031 (GRCm39) V207I possibly damaging Het
Myo15a A G 11: 60,368,800 (GRCm39) H520R possibly damaging Het
Nlrp2 A G 7: 5,332,014 (GRCm39) probably benign Het
Or14c46 A T 7: 85,918,063 (GRCm39) F311L probably benign Het
Or1n1 A T 2: 36,750,187 (GRCm39) Y58N probably damaging Het
Pgap4 A G 4: 49,586,919 (GRCm39) L83P probably damaging Het
Phc2 A G 4: 128,638,880 (GRCm39) H607R possibly damaging Het
Rsad2 A G 12: 26,495,439 (GRCm39) V352A probably benign Het
Rtn4rl2 A G 2: 84,710,856 (GRCm39) L136P probably damaging Het
Smc1b T C 15: 84,991,271 (GRCm39) probably benign Het
Spef2 C T 15: 9,647,349 (GRCm39) V993I probably benign Het
Tiam2 A G 17: 3,464,472 (GRCm39) H67R possibly damaging Het
Tmt1b T C 10: 128,796,567 (GRCm39) T81A possibly damaging Het
Vmn2r65 A T 7: 84,596,624 (GRCm39) S144T probably benign Het
Vmn2r77 A G 7: 86,450,830 (GRCm39) T239A probably benign Het
Predicted Primers PCR Primer
(F):5'- ACCGAGGGTGACTAAGGCAGATTC -3'
(R):5'- ACCATGTGCCCATCAGAGACAGAG -3'

Sequencing Primer
(F):5'- TTGCGACAGATCTACAGAGC -3'
(R):5'- CATCAGAGACAGAGCTTCCG -3'
Posted On 2014-05-23