Incidental Mutation 'R2362:A630073D07Rik'
ID 247177
Institutional Source Beutler Lab
Gene Symbol A630073D07Rik
Ensembl Gene ENSMUSG00000067541
Gene Name RIKEN cDNA A630073D07 gene
Synonyms LOC381819
MMRRC Submission 040343-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2362 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 132625111-132651526 bp(-) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 132627479 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000089395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091791]
AlphaFold E9PWS6
Predicted Effect probably null
Transcript: ENSMUST00000091791
AA Change: M1K
SMART Domains Protein: ENSMUSP00000089395
Gene: ENSMUSG00000067541
AA Change: M1K

DomainStartEndE-ValueType
Pfam:Pro-rich 1 98 2.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205081
Meta Mutation Damage Score 0.9602 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A G 8: 60,532,298 probably benign Het
Acsm5 T C 7: 119,528,426 probably benign Het
Avl9 A T 6: 56,736,570 N271I probably benign Het
Ccdc30 T A 4: 119,324,056 N636I probably damaging Het
Cdr2 T G 7: 120,970,331 I62L possibly damaging Het
Clk3 T C 9: 57,754,619 I382V possibly damaging Het
Ctsr T A 13: 61,162,796 E45V probably damaging Het
Cyp2b19 A G 7: 26,764,377 Y318C probably damaging Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Dapk1 A G 13: 60,730,931 N578S probably damaging Het
Dlg5 A T 14: 24,158,687 M817K probably benign Het
Dtx4 A G 19: 12,492,535 V76A probably damaging Het
Eps15 T C 4: 109,361,230 V430A probably benign Het
Fam160b2 A G 14: 70,586,365 Y568H probably benign Het
Fxyd5 T C 7: 31,036,471 N104S probably benign Het
Gm5155 T G 7: 17,902,473 noncoding transcript Het
Ift122 A G 6: 115,884,350 D193G probably damaging Het
Lrrcc1 A G 3: 14,563,024 E542G probably damaging Het
Macc1 T C 12: 119,447,658 probably benign Het
Ndst3 T A 3: 123,552,678 Y234F possibly damaging Het
Olfr1477 A T 19: 13,502,508 H55L probably damaging Het
Pes1 T C 11: 3,977,123 F429S probably damaging Het
Polr3e C G 7: 120,942,564 D623E probably damaging Het
Rapgef6 T C 11: 54,694,272 Y1494H probably damaging Het
Rbm14 T C 19: 4,801,707 probably benign Het
Rnf103 A G 6: 71,510,017 D544G probably benign Het
Slc10a7 A G 8: 78,509,632 I20V probably damaging Het
Sort1 C T 3: 108,346,665 T549I possibly damaging Het
Stambpl1 G A 19: 34,236,354 V328I probably benign Het
Thbd A G 2: 148,406,364 L528P probably damaging Het
Wbp11 A T 6: 136,824,332 M63K probably damaging Het
Wdr11 T A 7: 129,634,836 I1178N probably benign Het
Other mutations in A630073D07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:A630073D07Rik APN 6 132626614 missense unknown
R0617:A630073D07Rik UTSW 6 132626737 splice site probably benign
R0677:A630073D07Rik UTSW 6 132626557 nonsense probably null
R1838:A630073D07Rik UTSW 6 132626727 missense unknown
R1868:A630073D07Rik UTSW 6 132626494 missense unknown
R1928:A630073D07Rik UTSW 6 132626601 missense unknown
R2697:A630073D07Rik UTSW 6 132626656 missense unknown
R3791:A630073D07Rik UTSW 6 132626516 small deletion probably benign
R5309:A630073D07Rik UTSW 6 132626577 missense unknown
R7361:A630073D07Rik UTSW 6 132627471 missense unknown
R8266:A630073D07Rik UTSW 6 132627417 missense probably null
RF003:A630073D07Rik UTSW 6 132627443 missense unknown
Predicted Primers PCR Primer
(F):5'- CTTGACCTGAGAATTCTTCGGTC -3'
(R):5'- AACTGTTGCCAAAGTTACGCTC -3'

Sequencing Primer
(F):5'- CTGAGAATTCTTCGGTCTCATTTTG -3'
(R):5'- CCATATCCTGTTGAGCTGTAATG -3'
Posted On 2014-10-30