Incidental Mutation 'IGL02801:Tmem229a'
ID 360205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem229a
Ensembl Gene ENSMUSG00000048022
Gene Name transmembrane protein 229A
Synonyms 6332401O19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02801
Quality Score
Status
Chromosome 6
Chromosomal Location 24951140-24956124 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24955121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 211 (Q211L)
Ref Sequence ENSEMBL: ENSMUSP00000116234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127247]
AlphaFold B9EJI9
Predicted Effect probably benign
Transcript: ENSMUST00000127247
AA Change: Q211L

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000116234
Gene: ENSMUSG00000048022
AA Change: Q211L

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
internal_repeat_1 51 108 1.6e-5 PROSPERO
low complexity region 139 163 N/A INTRINSIC
low complexity region 208 220 N/A INTRINSIC
internal_repeat_1 229 286 1.6e-5 PROSPERO
transmembrane domain 301 319 N/A INTRINSIC
transmembrane domain 332 354 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,375,769 (GRCm39) K400N probably benign Het
Aox1 A T 1: 58,393,336 (GRCm39) I1193F probably damaging Het
Arhgef16 A T 4: 154,375,964 (GRCm39) L10Q probably damaging Het
Arl10 T C 13: 54,723,696 (GRCm39) V106A probably benign Het
Bmi1 T C 2: 18,686,692 (GRCm39) Y24H probably damaging Het
Cd163 T A 6: 124,297,488 (GRCm39) I878K probably benign Het
Col12a1 A G 9: 79,515,696 (GRCm39) probably null Het
Csmd2 T C 4: 128,445,868 (GRCm39) probably null Het
Dcp2 G T 18: 44,550,778 (GRCm39) M417I probably damaging Het
Ddx11 T A 17: 66,455,028 (GRCm39) C662S probably benign Het
Dhx29 G A 13: 113,101,180 (GRCm39) C1241Y probably damaging Het
Dnajc6 C T 4: 101,455,010 (GRCm39) P37L probably benign Het
Dqx1 A G 6: 83,037,476 (GRCm39) probably null Het
Dzip1 T A 14: 119,123,067 (GRCm39) K643* probably null Het
Ecel1 A G 1: 87,079,725 (GRCm39) S463P probably damaging Het
Eml5 A G 12: 98,784,104 (GRCm39) V1361A possibly damaging Het
Fads2 C A 19: 10,060,009 (GRCm39) A222S possibly damaging Het
Fancd2 A G 6: 113,570,278 (GRCm39) N1410D probably benign Het
Fbxw16 A G 9: 109,270,144 (GRCm39) F199S possibly damaging Het
Frem2 A G 3: 53,559,596 (GRCm39) V1637A possibly damaging Het
Gabrg2 A G 11: 41,803,220 (GRCm39) S442P probably damaging Het
Gprin3 T C 6: 59,331,966 (GRCm39) T114A possibly damaging Het
Hoxd8 A G 2: 74,536,912 (GRCm39) E27G probably damaging Het
Isl2 A G 9: 55,452,816 (GRCm39) probably null Het
Lamc2 T A 1: 153,012,529 (GRCm39) H715L probably benign Het
Lrif1 T C 3: 106,641,930 (GRCm39) V102A possibly damaging Het
Lrrc39 A G 3: 116,371,995 (GRCm39) N254S possibly damaging Het
Med13l T C 5: 118,883,178 (GRCm39) W1346R probably damaging Het
Melk T C 4: 44,360,930 (GRCm39) I570T probably damaging Het
Mlkl G A 8: 112,043,064 (GRCm39) T361M probably benign Het
Myo1f T A 17: 33,797,111 (GRCm39) M94K probably damaging Het
Naip1 A G 13: 100,580,876 (GRCm39) C124R probably damaging Het
Nek1 G A 8: 61,574,095 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Pde1c G T 6: 56,150,651 (GRCm39) N289K probably damaging Het
Pfas G A 11: 68,879,103 (GRCm39) probably benign Het
Pms2 A T 5: 143,862,653 (GRCm39) I587F probably benign Het
Ppargc1b T C 18: 61,440,755 (GRCm39) E721G possibly damaging Het
Ppp2r1b A G 9: 50,790,127 (GRCm39) I435V probably benign Het
Psip1 C T 4: 83,376,357 (GRCm39) S494N probably benign Het
Ranbp3 T C 17: 57,017,766 (GRCm39) V474A probably benign Het
Rnf220 C T 4: 117,130,448 (GRCm39) C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 (GRCm39) I99V probably benign Het
Slc36a1 A T 11: 55,116,879 (GRCm39) I303F probably benign Het
Slc4a1 C T 11: 102,249,972 (GRCm39) probably null Het
Syncrip A T 9: 88,361,862 (GRCm39) D84E probably damaging Het
Tbc1d9b T C 11: 50,043,657 (GRCm39) Y593H probably damaging Het
Tenm2 G T 11: 35,937,857 (GRCm39) Y1605* probably null Het
Tmem135 T A 7: 88,803,333 (GRCm39) H280L probably benign Het
Txlna T C 4: 129,534,201 (GRCm39) D5G probably damaging Het
Vmn2r57 T C 7: 41,098,056 (GRCm39) I4V probably benign Het
Wdfy3 A G 5: 102,055,453 (GRCm39) L1539S probably damaging Het
Zdhhc14 T G 17: 5,777,094 (GRCm39) probably null Het
Other mutations in Tmem229a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02239:Tmem229a APN 6 24,955,539 (GRCm39) missense probably damaging 1.00
R0077:Tmem229a UTSW 6 24,955,701 (GRCm39) missense probably benign
R1932:Tmem229a UTSW 6 24,955,010 (GRCm39) missense probably damaging 1.00
R2016:Tmem229a UTSW 6 24,955,061 (GRCm39) missense probably benign 0.00
R3522:Tmem229a UTSW 6 24,955,058 (GRCm39) missense probably benign 0.01
R4229:Tmem229a UTSW 6 24,954,831 (GRCm39) missense probably damaging 1.00
R4230:Tmem229a UTSW 6 24,954,831 (GRCm39) missense probably damaging 1.00
R5610:Tmem229a UTSW 6 24,955,580 (GRCm39) missense probably damaging 1.00
R5836:Tmem229a UTSW 6 24,955,016 (GRCm39) missense probably damaging 1.00
R5869:Tmem229a UTSW 6 24,954,686 (GRCm39) missense probably damaging 1.00
R5878:Tmem229a UTSW 6 24,955,172 (GRCm39) missense probably benign
R6505:Tmem229a UTSW 6 24,954,920 (GRCm39) missense probably damaging 1.00
R6915:Tmem229a UTSW 6 24,954,657 (GRCm39) missense probably benign 0.19
R7442:Tmem229a UTSW 6 24,955,689 (GRCm39) missense probably damaging 1.00
R7692:Tmem229a UTSW 6 24,955,211 (GRCm39) missense probably benign 0.19
R8252:Tmem229a UTSW 6 24,955,580 (GRCm39) missense probably damaging 1.00
R8844:Tmem229a UTSW 6 24,955,187 (GRCm39) missense probably benign 0.00
R8881:Tmem229a UTSW 6 24,955,587 (GRCm39) missense probably damaging 1.00
Z1176:Tmem229a UTSW 6 24,954,880 (GRCm39) nonsense probably null
Posted On 2015-12-18