Incidental Mutation 'IGL02472:Tmem245'
ID 294779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem245
Ensembl Gene ENSMUSG00000055296
Gene Name transmembrane protein 245
Synonyms D730040F13Rik, A630051L19Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # IGL02472
Quality Score
Status
Chromosome 4
Chromosomal Location 56866923-56947437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56899119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 269 (Y269C)
Ref Sequence ENSEMBL: ENSMUSP00000117449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068792] [ENSMUST00000107609] [ENSMUST00000132816]
AlphaFold B1AZA5
Predicted Effect probably damaging
Transcript: ENSMUST00000068792
AA Change: Y674C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: Y674C

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
transmembrane domain 144 166 N/A INTRINSIC
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 212 231 N/A INTRINSIC
transmembrane domain 235 252 N/A INTRINSIC
low complexity region 309 330 N/A INTRINSIC
transmembrane domain 351 373 N/A INTRINSIC
transmembrane domain 457 479 N/A INTRINSIC
Pfam:UPF0118 589 838 1.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103982
Predicted Effect probably damaging
Transcript: ENSMUST00000107609
AA Change: Y678C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: Y678C

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
transmembrane domain 144 166 N/A INTRINSIC
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 212 231 N/A INTRINSIC
transmembrane domain 235 252 N/A INTRINSIC
low complexity region 309 330 N/A INTRINSIC
transmembrane domain 351 373 N/A INTRINSIC
transmembrane domain 449 471 N/A INTRINSIC
Pfam:UPF0118 585 842 1.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125082
Predicted Effect probably damaging
Transcript: ENSMUST00000132816
AA Change: Y269C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296
AA Change: Y269C

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
Pfam:UPF0118 182 433 4.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199731
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Tmem245
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02668:Tmem245 APN 4 56,925,081 (GRCm39) missense possibly damaging 0.86
IGL03093:Tmem245 APN 4 56,886,019 (GRCm39) missense probably damaging 1.00
Integral UTSW 4 56,899,170 (GRCm39) missense possibly damaging 0.79
leibniz UTSW 4 56,916,770 (GRCm39) missense probably benign 0.02
R0090:Tmem245 UTSW 4 56,899,410 (GRCm39) missense probably benign
R0116:Tmem245 UTSW 4 56,926,213 (GRCm39) missense probably benign 0.00
R0648:Tmem245 UTSW 4 56,906,270 (GRCm39) missense probably benign 0.38
R0864:Tmem245 UTSW 4 56,890,837 (GRCm39) missense probably damaging 1.00
R1102:Tmem245 UTSW 4 56,903,200 (GRCm39) intron probably benign
R1548:Tmem245 UTSW 4 56,906,233 (GRCm39) nonsense probably null
R1778:Tmem245 UTSW 4 56,903,968 (GRCm39) missense probably damaging 1.00
R1840:Tmem245 UTSW 4 56,903,947 (GRCm39) missense probably benign 0.03
R1942:Tmem245 UTSW 4 56,923,511 (GRCm39) unclassified probably benign
R1969:Tmem245 UTSW 4 56,937,964 (GRCm39) missense probably benign 0.01
R2341:Tmem245 UTSW 4 56,937,957 (GRCm39) missense probably damaging 1.00
R2364:Tmem245 UTSW 4 56,899,391 (GRCm39) missense probably damaging 0.96
R3848:Tmem245 UTSW 4 56,926,298 (GRCm39) unclassified probably benign
R4591:Tmem245 UTSW 4 56,910,204 (GRCm39) missense probably damaging 0.99
R4772:Tmem245 UTSW 4 56,937,989 (GRCm39) splice site probably null
R4779:Tmem245 UTSW 4 56,936,468 (GRCm39) missense possibly damaging 0.65
R4860:Tmem245 UTSW 4 56,899,164 (GRCm39) missense probably damaging 1.00
R4860:Tmem245 UTSW 4 56,899,164 (GRCm39) missense probably damaging 1.00
R5049:Tmem245 UTSW 4 56,925,057 (GRCm39) missense probably benign 0.12
R5061:Tmem245 UTSW 4 56,946,945 (GRCm39) missense possibly damaging 0.94
R5199:Tmem245 UTSW 4 56,925,149 (GRCm39) missense probably benign 0.12
R5377:Tmem245 UTSW 4 56,947,084 (GRCm39) missense probably damaging 0.99
R5547:Tmem245 UTSW 4 56,910,156 (GRCm39) critical splice donor site probably null
R5846:Tmem245 UTSW 4 56,903,241 (GRCm39) missense probably benign 0.00
R5851:Tmem245 UTSW 4 56,916,770 (GRCm39) missense probably benign 0.02
R5991:Tmem245 UTSW 4 56,916,733 (GRCm39) missense probably damaging 1.00
R6314:Tmem245 UTSW 4 56,888,592 (GRCm39) missense possibly damaging 0.88
R6992:Tmem245 UTSW 4 56,937,940 (GRCm39) missense probably benign 0.03
R7172:Tmem245 UTSW 4 56,903,946 (GRCm39) missense possibly damaging 0.65
R7632:Tmem245 UTSW 4 56,916,787 (GRCm39) missense probably benign 0.00
R7660:Tmem245 UTSW 4 56,899,170 (GRCm39) missense possibly damaging 0.79
R7672:Tmem245 UTSW 4 56,947,069 (GRCm39) missense probably benign
R7735:Tmem245 UTSW 4 56,925,155 (GRCm39) missense probably benign 0.22
R7900:Tmem245 UTSW 4 56,924,973 (GRCm39) splice site probably null
R8280:Tmem245 UTSW 4 56,890,884 (GRCm39) missense possibly damaging 0.89
R8306:Tmem245 UTSW 4 56,886,037 (GRCm39) missense probably damaging 0.96
R8446:Tmem245 UTSW 4 56,906,261 (GRCm39) missense probably benign 0.24
R8447:Tmem245 UTSW 4 56,906,261 (GRCm39) missense probably benign 0.24
R8491:Tmem245 UTSW 4 56,906,261 (GRCm39) missense probably benign 0.24
R8524:Tmem245 UTSW 4 56,906,261 (GRCm39) missense probably benign 0.24
R8750:Tmem245 UTSW 4 56,886,141 (GRCm39) missense probably damaging 1.00
R8756:Tmem245 UTSW 4 56,899,025 (GRCm39) critical splice donor site probably null
R8899:Tmem245 UTSW 4 56,903,916 (GRCm39) critical splice donor site probably null
R9035:Tmem245 UTSW 4 56,922,384 (GRCm39) intron probably benign
R9267:Tmem245 UTSW 4 56,947,236 (GRCm39) missense probably benign 0.03
R9292:Tmem245 UTSW 4 56,926,173 (GRCm39) unclassified probably benign
R9292:Tmem245 UTSW 4 56,937,979 (GRCm39) missense probably benign 0.07
R9667:Tmem245 UTSW 4 56,947,119 (GRCm39) missense probably damaging 0.98
Z1189:Tmem245 UTSW 4 56,937,901 (GRCm39) missense probably benign
Posted On 2015-04-16