Incidental Mutation 'R6667:3100002H09Rik'
ID 527014
Institutional Source Beutler Lab
Gene Symbol 3100002H09Rik
Ensembl Gene ENSMUSG00000051219
Gene Name RIKEN cDNA 3100002H09 gene
Synonyms
MMRRC Submission 044787-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6667 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 124609931-124610803 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 124610642 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 39 (A39E)
Ref Sequence ENSEMBL: ENSMUSP00000053274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053604]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053604
AA Change: A39E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053274
Gene: ENSMUSG00000051219
AA Change: A39E

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184062
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b T A 3: 20,315,749 (GRCm38) N231I possibly damaging Het
Alpk2 T C 18: 65,307,740 (GRCm38) E661G probably damaging Het
Ankrd26 C T 6: 118,507,788 (GRCm38) S1496N probably benign Het
Asah2 T C 19: 31,995,358 (GRCm38) N659S probably benign Het
Atp12a T C 14: 56,384,188 (GRCm38) V760A possibly damaging Het
Casp2 T C 6: 42,279,836 (GRCm38) C343R probably damaging Het
Cblb T A 16: 52,152,644 (GRCm38) M446K possibly damaging Het
Cipc T C 12: 86,962,090 (GRCm38) V241A probably benign Het
Ddit4l A G 3: 137,626,121 (GRCm38) K83E probably benign Het
Eif1ad10 A T 12: 88,249,705 (GRCm38) D132E unknown Het
Epc2 A G 2: 49,522,669 (GRCm38) T220A probably damaging Het
Epha5 T C 5: 84,071,191 (GRCm38) D741G probably damaging Het
Flg2 A T 3: 93,201,761 (GRCm38) R365S possibly damaging Het
Ggn A T 7: 29,172,668 (GRCm38) H491L possibly damaging Het
Gm21119 T C 8: 20,621,939 (GRCm38) S267P probably benign Het
Gpat2 G C 2: 127,431,918 (GRCm38) G294R possibly damaging Het
Ighv6-4 A G 12: 114,406,532 (GRCm38) V100A probably benign Het
Invs A T 4: 48,402,870 (GRCm38) Y501F possibly damaging Het
Iqcm G T 8: 75,753,352 (GRCm38) G313W probably damaging Het
Jph2 A G 2: 163,376,286 (GRCm38) S157P probably damaging Het
Mast4 T C 13: 102,737,496 (GRCm38) E1596G probably damaging Het
Mllt6 T A 11: 97,676,934 (GRCm38) L759Q probably damaging Het
Nalcn A G 14: 123,321,323 (GRCm38) L837P probably damaging Het
Neb G A 2: 52,147,189 (GRCm38) T6836I probably damaging Het
Nol12 T A 15: 78,940,080 (GRCm38) D133E probably benign Het
Or5w13 A G 2: 87,693,570 (GRCm38) V104A probably benign Het
Oxtr C A 6: 112,477,099 (GRCm38) probably benign Het
Pcmt1 A G 10: 7,663,149 (GRCm38) L38P probably damaging Het
Pik3r2 T C 8: 70,769,173 (GRCm38) Y617C probably damaging Het
Prl7a2 T C 13: 27,661,041 (GRCm38) N121D probably benign Het
Pvr G T 7: 19,905,802 (GRCm38) Q380K probably benign Het
Rtn2 A G 7: 19,287,259 (GRCm38) E188G probably benign Het
Setd4 C A 16: 93,590,030 (GRCm38) R260L probably benign Het
Six5 A G 7: 19,096,569 (GRCm38) N374D probably benign Het
Slc9b1 T C 3: 135,371,965 (GRCm38) I140T probably damaging Het
Supt16 A G 14: 52,172,063 (GRCm38) F797L probably damaging Het
Tbata T C 10: 61,185,363 (GRCm38) L262P probably damaging Het
Tti1 A T 2: 158,008,427 (GRCm38) C297* probably null Het
Ush1c C A 7: 46,225,624 (GRCm38) G139C probably damaging Het
Vmn1r1 C T 1: 182,157,777 (GRCm38) V108I probably benign Het
Vmn2r116 C T 17: 23,401,092 (GRCm38) T600I probably damaging Het
Zfp764l1 A G 7: 127,393,423 (GRCm38) M5T probably benign Het
Zfp873 A G 10: 82,060,589 (GRCm38) T422A probably benign Het
Zfp943 G A 17: 21,992,908 (GRCm38) C325Y probably damaging Het
Other mutations in 3100002H09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:3100002H09Rik APN 4 124,610,691 (GRCm38) missense probably damaging 0.99
IGL01363:3100002H09Rik APN 4 124,610,690 (GRCm38) missense probably damaging 0.99
IGL02139:3100002H09Rik APN 4 124,610,576 (GRCm38) missense unknown
IGL02641:3100002H09Rik APN 4 124,610,717 (GRCm38) missense unknown
R0104:3100002H09Rik UTSW 4 124,610,676 (GRCm38) missense probably damaging 0.99
R1522:3100002H09Rik UTSW 4 124,610,694 (GRCm38) missense probably damaging 0.99
R5590:3100002H09Rik UTSW 4 124,610,487 (GRCm38) missense unknown
R6136:3100002H09Rik UTSW 4 124,610,388 (GRCm38) missense unknown
R6251:3100002H09Rik UTSW 4 124,610,652 (GRCm38) missense probably damaging 0.99
R8709:3100002H09Rik UTSW 4 124,610,523 (GRCm38) missense unknown
R9478:3100002H09Rik UTSW 4 124,610,358 (GRCm38) missense unknown
Z1176:3100002H09Rik UTSW 4 124,610,705 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- AAAATACACTTTTGGGGTTAGCCC -3'
(R):5'- CCACATCTGGACACCATGAG -3'

Sequencing Primer
(F):5'- TGCAACTCGGGCCTATGG -3'
(R):5'- CCATGAGTACTTATGGGTAGACTC -3'
Posted On 2018-07-23