Incidental Mutation 'IGL00490:Tmem236'
ID7278
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 #IGL00490
Quality Score
Status
Chromosome2
Chromosomal Location14174523-14221993 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14219378 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 326 (Y326C)
Ref Sequence ENSEMBL: ENSMUSP00000076722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077517]
Predicted Effect probably damaging
Transcript: ENSMUST00000077517
AA Change: Y326C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076722
Gene: ENSMUSG00000061531
AA Change: Y326C

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 A G 4: 130,011,872 E837G possibly damaging Het
Atp13a3 A G 16: 30,352,354 M291T probably benign Het
Coq8b C A 7: 27,257,477 H518Q probably benign Het
Crebrf A G 17: 26,743,093 D388G probably damaging Het
Cyp2d10 A T 15: 82,403,314 S244T possibly damaging Het
Ddr2 A T 1: 170,005,194 L99H probably damaging Het
Dennd1a G T 2: 37,801,152 D251E probably damaging Het
Fam210a G T 18: 68,268,912 T210N probably damaging Het
Gigyf2 C A 1: 87,436,850 Q951K probably damaging Het
Gramd1b T A 9: 40,310,041 I280F probably damaging Het
Gsdmc3 T A 15: 63,859,677 K335N probably benign Het
Loxhd1 A T 18: 77,431,074 T993S possibly damaging Het
Mfsd6 A G 1: 52,708,254 L484P probably damaging Het
Myt1l T A 12: 29,827,424 V358E unknown Het
Mzt1 A G 14: 99,040,670 probably benign Het
Nrxn2 C A 19: 6,473,593 H514Q possibly damaging Het
Nup214 G A 2: 32,033,979 E2K probably damaging Het
Pcdhb4 G T 18: 37,309,916 G760W possibly damaging Het
Ptger2 T C 14: 45,001,741 probably benign Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Smcr8 T A 11: 60,778,632 probably null Het
Spef2 A T 15: 9,740,535 D46E probably damaging Het
Tbc1d32 G A 10: 56,155,765 P689L probably damaging Het
Tep1 C A 14: 50,833,473 W2123L probably damaging Het
Thg1l T C 11: 45,954,221 E8G probably benign Het
Trip4 C T 9: 65,833,410 G573R probably damaging Het
Trrap C T 5: 144,825,225 T2320I probably benign Het
Tsnaxip1 A G 8: 105,842,184 N435S probably damaging Het
Ube3a A G 7: 59,272,110 N77D probably damaging Het
Uvrag A T 7: 98,979,741 I373N probably damaging Het
Other mutations in Tmem236
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Tmem236 APN 2 14174630 missense probably damaging 1.00
IGL01980:Tmem236 APN 2 14218905 missense probably benign 0.16
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 On2012-04-20