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: 0.055) question?
Stock # R2362 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 132602074-132604474 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 132604442 bp (GRCm39)
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: 60,985,332 (GRCm39) probably benign Het
Acsm5 T C 7: 119,127,649 (GRCm39) probably benign Het
Avl9 A T 6: 56,713,555 (GRCm39) N271I probably benign Het
Ccdc30 T A 4: 119,181,253 (GRCm39) N636I probably damaging Het
Cdr2 T G 7: 120,569,554 (GRCm39) I62L possibly damaging Het
Ceacam23 T G 7: 17,636,398 (GRCm39) noncoding transcript Het
Clk3 T C 9: 57,661,902 (GRCm39) I382V possibly damaging Het
Ctsr T A 13: 61,310,610 (GRCm39) E45V probably damaging Het
Cyp2b19 A G 7: 26,463,802 (GRCm39) Y318C probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dapk1 A G 13: 60,878,745 (GRCm39) N578S probably damaging Het
Dlg5 A T 14: 24,208,755 (GRCm39) M817K probably benign Het
Dtx4 A G 19: 12,469,899 (GRCm39) V76A probably damaging Het
Eps15 T C 4: 109,218,427 (GRCm39) V430A probably benign Het
Fhip2b A G 14: 70,823,805 (GRCm39) Y568H probably benign Het
Fxyd5 T C 7: 30,735,896 (GRCm39) N104S probably benign Het
Ift122 A G 6: 115,861,311 (GRCm39) D193G probably damaging Het
Lrrcc1 A G 3: 14,628,084 (GRCm39) E542G probably damaging Het
Macc1 T C 12: 119,411,393 (GRCm39) probably benign Het
Ndst3 T A 3: 123,346,327 (GRCm39) Y234F possibly damaging Het
Or5b120 A T 19: 13,479,872 (GRCm39) H55L probably damaging Het
Pes1 T C 11: 3,927,123 (GRCm39) F429S probably damaging Het
Polr3e C G 7: 120,541,787 (GRCm39) D623E probably damaging Het
Rapgef6 T C 11: 54,585,098 (GRCm39) Y1494H probably damaging Het
Rbm14 T C 19: 4,851,735 (GRCm39) probably benign Het
Rnf103 A G 6: 71,487,001 (GRCm39) D544G probably benign Het
Slc10a7 A G 8: 79,236,261 (GRCm39) I20V probably damaging Het
Sort1 C T 3: 108,253,981 (GRCm39) T549I possibly damaging Het
Stambpl1 G A 19: 34,213,754 (GRCm39) V328I probably benign Het
Thbd A G 2: 148,248,284 (GRCm39) L528P probably damaging Het
Wbp11 A T 6: 136,801,330 (GRCm39) M63K probably damaging Het
Wdr11 T A 7: 129,236,560 (GRCm39) I1178N probably benign Het
Other mutations in A630073D07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:A630073D07Rik APN 6 132,603,577 (GRCm39) missense unknown
R0617:A630073D07Rik UTSW 6 132,603,700 (GRCm39) splice site probably benign
R0677:A630073D07Rik UTSW 6 132,603,520 (GRCm39) nonsense probably null
R1838:A630073D07Rik UTSW 6 132,603,690 (GRCm39) missense unknown
R1868:A630073D07Rik UTSW 6 132,603,457 (GRCm39) missense unknown
R1928:A630073D07Rik UTSW 6 132,603,564 (GRCm39) missense unknown
R2697:A630073D07Rik UTSW 6 132,603,619 (GRCm39) missense unknown
R3791:A630073D07Rik UTSW 6 132,603,479 (GRCm39) small deletion probably benign
R5309:A630073D07Rik UTSW 6 132,603,540 (GRCm39) missense unknown
R7361:A630073D07Rik UTSW 6 132,604,434 (GRCm39) missense unknown
R8266:A630073D07Rik UTSW 6 132,604,380 (GRCm39) missense probably null
RF003:A630073D07Rik UTSW 6 132,604,406 (GRCm39) 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