Incidental Mutation 'IGL01980:Tmem236'
ID182704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem236
Ensembl Gene ENSMUSG00000061531
Gene Nametransmembrane protein 236
SynonymsFam23a, 2010003H20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01980
Quality Score
Status
Chromosome2
Chromosomal Location14174523-14221993 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 14218905 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 168 (Q168H)
Ref Sequence ENSEMBL: ENSMUSP00000076722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077517]
Predicted Effect probably benign
Transcript: ENSMUST00000077517
AA Change: Q168H

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000076722
Gene: ENSMUSG00000061531
AA Change: Q168H

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 82 104 N/A INTRINSIC
low complexity region 119 143 N/A INTRINSIC
transmembrane domain 256 275 N/A INTRINSIC
transmembrane domain 295 314 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd60 C T 2: 173,571,203 C164Y probably benign Het
Atp13a2 C T 4: 141,006,152 A979V probably benign Het
Col5a2 C T 1: 45,382,233 probably benign Het
Col6a6 T C 9: 105,780,985 N676S probably damaging Het
Cpa1 T C 6: 30,641,582 F192L possibly damaging Het
Entpd6 T A 2: 150,762,366 probably null Het
Fam185a A G 5: 21,459,173 K302E probably damaging Het
Il12rb2 T C 6: 67,360,535 K121E probably benign Het
Impg2 G A 16: 56,221,527 C178Y probably damaging Het
Kdm3b G T 18: 34,834,236 C1698F probably damaging Het
Llgl2 A G 11: 115,850,025 D451G probably damaging Het
Mgat4b T A 11: 50,230,713 L52Q probably damaging Het
Mmp9 C A 2: 164,950,916 S363R probably benign Het
Mtfmt A G 9: 65,437,074 Y94C probably benign Het
Myo7b G A 18: 31,961,900 L1881F possibly damaging Het
Olfr642 A T 7: 104,050,093 M87K probably benign Het
Olfr782 G T 10: 129,351,517 probably benign Het
Pex5 T C 6: 124,398,380 N524S probably damaging Het
Plppr1 A T 4: 49,319,992 Y206F possibly damaging Het
Polr3e A G 7: 120,940,296 probably benign Het
Rhbdd1 A G 1: 82,340,834 probably benign Het
Rims4 A T 2: 163,865,782 probably benign Het
Smarcal1 A T 1: 72,616,520 K653* probably null Het
Stt3b C T 9: 115,276,699 probably null Het
Syt8 C A 7: 142,440,140 L343M probably damaging Het
Tbc1d23 G A 16: 57,189,252 probably benign Het
Tfec T C 6: 16,845,466 I65V probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Tnip2 A G 5: 34,496,868 V288A probably benign Het
Ttc1 G A 11: 43,730,464 probably benign Het
Tubb4b-ps1 A C 5: 7,179,843 probably benign Het
Tut1 T C 19: 8,954,000 C21R probably damaging Het
Ubr4 C A 4: 139,429,602 Q2313K probably damaging Het
Unc5b T C 10: 60,780,187 E119G probably damaging Het
Vmn1r23 T A 6: 57,926,490 Q101L probably damaging Het
Vmn2r77 A G 7: 86,801,470 D188G probably benign Het
Vmn2r79 A G 7: 87,037,082 E557G possibly damaging Het
Zfp738 A G 13: 67,669,977 F632L possibly damaging Het
Other mutations in Tmem236
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Tmem236 APN 2 14219378 missense probably damaging 1.00
IGL01363:Tmem236 APN 2 14174630 missense probably damaging 1.00
IGL02749:Tmem236 APN 2 14219321 missense probably damaging 1.00
R0172:Tmem236 UTSW 2 14218883 missense probably benign 0.06
R1470:Tmem236 UTSW 2 14218921 missense probably benign 0.22
R1470:Tmem236 UTSW 2 14218921 missense probably benign 0.22
R1519:Tmem236 UTSW 2 14192280 missense probably benign 0.00
R1923:Tmem236 UTSW 2 14219306 missense probably damaging 1.00
R2147:Tmem236 UTSW 2 14219050 missense probably benign 0.03
R4226:Tmem236 UTSW 2 14174626 nonsense probably null
R4551:Tmem236 UTSW 2 14219153 missense probably benign 0.02
R4904:Tmem236 UTSW 2 14195992 missense probably benign
R5168:Tmem236 UTSW 2 14192328 critical splice donor site probably null
R5283:Tmem236 UTSW 2 14174833 missense probably benign 0.01
R5306:Tmem236 UTSW 2 14219164 nonsense probably null
R5334:Tmem236 UTSW 2 14219060 missense possibly damaging 0.85
R6516:Tmem236 UTSW 2 14195980 missense probably benign 0.00
R6604:Tmem236 UTSW 2 14174701 missense probably benign 0.03
R7689:Tmem236 UTSW 2 14192265 missense probably damaging 0.99
R8390:Tmem236 UTSW 2 14219357 missense probably damaging 1.00
X0062:Tmem236 UTSW 2 14219278 missense probably damaging 1.00
Z1177:Tmem236 UTSW 2 14174727 nonsense probably null
Posted On2014-05-07