Incidental Mutation 'R6884:Gm10269'
ID 536871
Institutional Source Beutler Lab
Gene Symbol Gm10269
Ensembl Gene ENSMUSG00000091449
Gene Name predicted gene 10269
Synonyms
MMRRC Submission 044979-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6884 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 20815651-20816020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20815932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 30 (Q30L)
Ref Sequence ENSEMBL: ENSMUSP00000131269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070080] [ENSMUST00000165229]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070080
SMART Domains Protein: ENSMUSP00000066515
Gene: ENSMUSG00000056124

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 108 243 3.3e-56 PFAM
Pfam:Glyco_transf_7C 247 325 2e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165229
AA Change: Q30L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131269
Gene: ENSMUSG00000091449
AA Change: Q30L

DomainStartEndE-ValueType
Pfam:Ribosomal_L29 7 63 3.3e-22 PFAM
low complexity region 95 108 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,407 (GRCm39) probably benign Het
Abca5 C T 11: 110,220,043 (GRCm39) V8M probably damaging Het
Ahnak2 A T 12: 112,741,863 (GRCm39) D736E possibly damaging Het
Brpf3 A G 17: 29,050,324 (GRCm39) D1072G probably benign Het
Cacna1i C T 15: 80,259,010 (GRCm39) R1240C probably damaging Het
Ccdc40 A T 11: 119,133,565 (GRCm39) E568D possibly damaging Het
Col12a1 C T 9: 79,547,091 (GRCm39) G2247E possibly damaging Het
Dapk3 T A 10: 81,027,588 (GRCm39) probably null Het
Dcaf13 T C 15: 38,986,635 (GRCm39) W136R probably damaging Het
Dip2a C A 10: 76,108,366 (GRCm39) probably null Het
Eif3c T C 7: 126,156,051 (GRCm39) D473G probably benign Het
Erich2 G A 2: 70,339,505 (GRCm39) R20H possibly damaging Het
Gcnt7 T C 2: 172,296,125 (GRCm39) N233S probably damaging Het
Gdpd4 G T 7: 97,621,382 (GRCm39) L208F probably damaging Het
Gm7298 A T 6: 121,737,480 (GRCm39) I295F possibly damaging Het
Htr7 A G 19: 35,941,779 (GRCm39) probably null Het
Ing1 A G 8: 11,611,916 (GRCm39) Y118C probably damaging Het
Krtap16-1 C T 11: 99,877,284 (GRCm39) W40* probably null Het
Krtap26-1 A T 16: 88,444,467 (GRCm39) D51E probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lrp1 T A 10: 127,394,986 (GRCm39) Q2513L probably benign Het
Morf4l1 A T 9: 89,976,532 (GRCm39) N265K probably damaging Het
Mpp2 T C 11: 101,952,904 (GRCm39) D299G probably benign Het
Mtcl1 C T 17: 66,745,197 (GRCm39) G55R probably damaging Het
Myb T A 10: 21,028,431 (GRCm39) K144I probably damaging Het
Myo18a T C 11: 77,709,875 (GRCm39) I587T possibly damaging Het
Nr2c2 A G 6: 92,135,374 (GRCm39) S288G probably benign Het
Obscn A G 11: 58,969,128 (GRCm39) Y2700H probably damaging Het
Or2z9 T C 8: 72,854,345 (GRCm39) V247A probably benign Het
Or6c3 T A 10: 129,309,023 (GRCm39) F154Y probably damaging Het
Pde6b A G 5: 108,536,574 (GRCm39) D90G probably damaging Het
Pigo A G 4: 43,022,627 (GRCm39) F315L possibly damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Ret T C 6: 118,132,362 (GRCm39) D1026G probably damaging Het
Rptn A T 3: 93,303,096 (GRCm39) Q143L probably benign Het
Rubcnl A G 14: 75,272,910 (GRCm39) E210G probably benign Het
Serpina1b T A 12: 103,698,712 (GRCm39) T46S probably benign Het
Serpinb9e A T 13: 33,435,609 (GRCm39) H14L probably benign Het
Shoc1 A G 4: 59,059,652 (GRCm39) S1003P possibly damaging Het
Slc25a25 A C 2: 32,310,674 (GRCm39) V168G probably benign Het
Slc35e1 T C 8: 73,238,726 (GRCm39) T261A possibly damaging Het
Spocd1 T C 4: 129,849,197 (GRCm39) probably benign Het
Tmem222 A T 4: 132,995,514 (GRCm39) Y178N probably damaging Het
Top1mt C T 15: 75,535,893 (GRCm39) E470K probably benign Het
Traj42 T C 14: 54,413,290 (GRCm39) probably benign Het
Tshr T C 12: 91,504,876 (GRCm39) Y13H probably damaging Het
Uvssa A G 5: 33,566,461 (GRCm39) probably null Het
Vmn1r28 G A 6: 58,242,633 (GRCm39) V159I probably benign Het
Vmn2r73 T A 7: 85,507,213 (GRCm39) T700S probably benign Het
Other mutations in Gm10269
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02936:Gm10269 APN 18 20,816,010 (GRCm39) splice site probably null
R1840:Gm10269 UTSW 18 20,815,866 (GRCm39) missense probably damaging 1.00
R4615:Gm10269 UTSW 18 20,815,820 (GRCm39) missense probably benign 0.00
R8987:Gm10269 UTSW 18 20,815,981 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TACTTGCGCAGAGGATACAGC -3'
(R):5'- AGCTGCTTACCAACATGCCC -3'

Sequencing Primer
(F):5'- AGAGGATACAGCCGCTCCTTC -3'
(R):5'- TGCCCAGACTTCAGACAGTC -3'
Posted On 2018-10-18