Incidental Mutation 'R7616:A630089N07Rik'
ID 588937
Institutional Source Beutler Lab
Gene Symbol A630089N07Rik
Ensembl Gene ENSMUSG00000116673
Gene Name RIKEN cDNA A630089N07 gene
Synonyms
MMRRC Submission 045716-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R7616 (G1)
Quality Score 172.009
Status Validated
Chromosome 16
Chromosomal Location 97863712-97883639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97867410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 184 (Q184L)
Ref Sequence ENSEMBL: ENSMUSP00000156068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000231268] [ENSMUST00000231741] [ENSMUST00000232346] [ENSMUST00000232376] [ENSMUST00000232533]
AlphaFold A0A338P6D3
Predicted Effect probably benign
Transcript: ENSMUST00000231268
Predicted Effect probably damaging
Transcript: ENSMUST00000231741
AA Change: Q184L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000232346
Predicted Effect probably benign
Transcript: ENSMUST00000232376
Predicted Effect probably benign
Transcript: ENSMUST00000232533
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A G 9: 55,896,738 (GRCm39) F290S probably benign Het
4931414P19Rik T C 14: 54,823,123 (GRCm39) D358G probably damaging Het
Adam10 A G 9: 70,629,993 (GRCm39) R142G possibly damaging Het
Adgrb1 A G 15: 74,420,418 (GRCm39) T856A probably damaging Het
Angel1 A G 12: 86,764,510 (GRCm39) S493P probably benign Het
Arid1b C G 17: 5,045,661 (GRCm39) P150A unknown Het
Atp8b5 T A 4: 43,370,823 (GRCm39) probably null Het
Cbfa2t3 T G 8: 123,360,076 (GRCm39) Q525P possibly damaging Het
Clip4 T C 17: 72,141,268 (GRCm39) Y541H probably benign Het
Cracr2a C T 6: 127,585,660 (GRCm39) Q153* probably null Het
Dsp G T 13: 38,375,458 (GRCm39) C1081F probably damaging Het
Dysf A G 6: 84,078,945 (GRCm39) D708G probably benign Het
Eif3d A T 15: 77,845,886 (GRCm39) D378E probably damaging Het
Etv1 T A 12: 38,915,605 (GRCm39) M424K probably damaging Het
Fam120b T G 17: 15,623,098 (GRCm39) S359A possibly damaging Het
Ffar2 A G 7: 30,519,357 (GRCm39) L61P probably damaging Het
Grm5 A T 7: 87,765,409 (GRCm39) D879V probably benign Het
Itpr3 C A 17: 27,307,951 (GRCm39) A246E probably damaging Het
Kmt2b G T 7: 30,281,633 (GRCm39) P1207Q probably damaging Het
Mamdc2 T A 19: 23,328,168 (GRCm39) Y400F probably damaging Het
Mtcl3 T C 10: 29,022,574 (GRCm39) probably benign Het
Muc4 T A 16: 32,574,161 (GRCm39) Y746* probably null Het
Mylk T C 16: 34,699,927 (GRCm39) F430S probably damaging Het
Nek10 G A 14: 14,937,759 (GRCm38) C826Y probably benign Het
Nf1 T A 11: 79,275,092 (GRCm39) F51Y probably damaging Het
Or10ag55-ps1 T C 2: 87,115,617 (GRCm39) *328Q probably null Het
Phf2 T A 13: 48,961,083 (GRCm39) Y869F unknown Het
Psmb7 T C 2: 38,523,976 (GRCm39) Y133C possibly damaging Het
Ptcd2 G A 13: 99,481,207 (GRCm39) probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Slbp A T 5: 33,801,210 (GRCm39) I167N probably damaging Het
Slc2a2 A G 3: 28,781,260 (GRCm39) T433A probably benign Het
Snap91 T A 9: 86,721,674 (GRCm39) N55I probably damaging Het
Stat4 A T 1: 52,053,037 (GRCm39) K73* probably null Het
Sult2a5 G A 7: 13,404,607 (GRCm39) M281I probably benign Het
Tenm3 A T 8: 48,794,084 (GRCm39) M647K possibly damaging Het
Trim66 T A 7: 109,082,956 (GRCm39) D162V probably damaging Het
Vangl1 A T 3: 102,091,381 (GRCm39) I235N probably damaging Het
Vmn1r175 T A 7: 23,508,031 (GRCm39) I199F possibly damaging Het
Vmn1r72 A G 7: 11,404,272 (GRCm39) S59P probably damaging Het
Wdr25 G A 12: 108,958,819 (GRCm39) G344S possibly damaging Het
Zfand2a A T 5: 139,464,321 (GRCm39) N61K probably damaging Het
Other mutations in A630089N07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6852:A630089N07Rik UTSW 16 97,866,855 (GRCm39) missense probably benign 0.01
R6964:A630089N07Rik UTSW 16 97,866,959 (GRCm39) nonsense probably null
R7796:A630089N07Rik UTSW 16 97,867,024 (GRCm39) missense probably benign 0.08
R7850:A630089N07Rik UTSW 16 97,869,328 (GRCm39) missense probably damaging 0.99
R8725:A630089N07Rik UTSW 16 97,867,651 (GRCm39) missense probably damaging 0.96
R8727:A630089N07Rik UTSW 16 97,867,651 (GRCm39) missense probably damaging 0.96
R8927:A630089N07Rik UTSW 16 97,867,367 (GRCm39) missense probably damaging 1.00
R8928:A630089N07Rik UTSW 16 97,867,367 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGGCAAAGGATTTACTACATTGC -3'
(R):5'- AGCCTTTGCACAACACAGTACT -3'

Sequencing Primer
(F):5'- GTACATGGACAGTACTACGATATGC -3'
(R):5'- ACATACTGGAGAGAAACCCTATG -3'
Posted On 2019-10-24