Incidental Mutation 'IGL02801:Tmem229a'
ID360205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem229a
Ensembl Gene ENSMUSG00000048022
Gene Nametransmembrane protein 229A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02801
Quality Score
Status
Chromosome6
Chromosomal Location24951141-24956297 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24955122 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 211 (Q211L)
Ref Sequence ENSEMBL: ENSMUSP00000116234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127247]
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: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Bmi1 T C 2: 18,681,881 Y24H probably damaging Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 E27G probably damaging Het
Isl2 A G 9: 55,545,532 probably null Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Melk T C 4: 44,360,930 I570T probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Ranbp3 T C 17: 56,710,766 V474A probably benign Het
Rnf220 C T 4: 117,273,251 C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 I99V probably benign Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Syncrip A T 9: 88,479,809 D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Txlna T C 4: 129,640,408 D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null Het
Other mutations in Tmem229a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02239:Tmem229a APN 6 24955540 missense probably damaging 1.00
R0077:Tmem229a UTSW 6 24955702 missense probably benign
R1932:Tmem229a UTSW 6 24955011 missense probably damaging 1.00
R2016:Tmem229a UTSW 6 24955062 missense probably benign 0.00
R3522:Tmem229a UTSW 6 24955059 missense probably benign 0.01
R4229:Tmem229a UTSW 6 24954832 missense probably damaging 1.00
R4230:Tmem229a UTSW 6 24954832 missense probably damaging 1.00
R5610:Tmem229a UTSW 6 24955581 missense probably damaging 1.00
R5836:Tmem229a UTSW 6 24955017 missense probably damaging 1.00
R5869:Tmem229a UTSW 6 24954687 missense probably damaging 1.00
R5878:Tmem229a UTSW 6 24955173 missense probably benign
R6505:Tmem229a UTSW 6 24954921 missense probably damaging 1.00
R6915:Tmem229a UTSW 6 24954658 missense probably benign 0.19
R7442:Tmem229a UTSW 6 24955690 missense probably damaging 1.00
R7692:Tmem229a UTSW 6 24955212 missense probably benign 0.19
R8252:Tmem229a UTSW 6 24955581 missense probably damaging 1.00
R8844:Tmem229a UTSW 6 24955188 missense probably benign 0.00
R8881:Tmem229a UTSW 6 24955588 missense probably damaging 1.00
Z1176:Tmem229a UTSW 6 24954881 nonsense probably null
Posted On2015-12-18