Incidental Mutation 'IGL03093:Tmem245'
ID 418458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem245
Ensembl Gene ENSMUSG00000055296
Gene Name transmembrane protein 245
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.443) question?
Stock # IGL03093
Quality Score
Status
Chromosome 4
Chromosomal Location 56866923-56947437 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56886019 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 866 (R866W)
Ref Sequence ENSEMBL: ENSMUSP00000103234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068792] [ENSMUST00000107609] [ENSMUST00000132816]
AlphaFold B1AZA5
Predicted Effect probably damaging
Transcript: ENSMUST00000068792
AA Change: R862W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: R862W

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 probably damaging
Transcript: ENSMUST00000107609
AA Change: R866W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: R866W

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 possibly damaging
Transcript: ENSMUST00000132816
AA Change: R457W

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296
AA Change: R457W

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
Pfam:UPF0118 182 433 4.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155625
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,231,207 D121G probably damaging Het
Cacna1s A G 1: 136,116,064 D1380G probably benign Het
Clca3a1 T C 3: 144,747,501 Y487C probably damaging Het
Coro2a A G 4: 46,544,158 S278P possibly damaging Het
Creb3l3 A G 10: 81,091,213 S128P probably benign Het
Dab2 A G 15: 6,436,411 R697G probably damaging Het
Erap1 T C 13: 74,675,280 F811S probably benign Het
Fam170b A G 14: 32,835,525 S106G probably damaging Het
Galk2 T C 2: 125,929,643 L196P probably damaging Het
Gan T C 8: 117,183,575 M81T probably benign Het
Gemin2 A G 12: 59,021,725 T197A probably benign Het
Hemgn A T 4: 46,396,504 M244K probably benign Het
Htr6 A G 4: 139,061,769 F325S probably damaging Het
Igkv9-120 A G 6: 68,050,414 D104G probably damaging Het
Itpr2 A C 6: 146,379,510 I216S probably damaging Het
Lingo1 T C 9: 56,619,464 I614V possibly damaging Het
Mep1b C T 18: 21,093,653 T524M probably benign Het
Mtif2 A G 11: 29,530,702 probably benign Het
Mylk G A 16: 34,912,192 R614H possibly damaging Het
Olfr601 T C 7: 103,358,239 probably benign Het
Olfr706 T C 7: 106,886,203 T205A probably benign Het
Pabpc4 G A 4: 123,286,709 D75N probably damaging Het
Paics T A 5: 76,961,508 probably null Het
Prl T A 13: 27,064,887 I172N probably benign Het
Ripk2 A G 4: 16,152,056 S168P probably damaging Het
Siglecf T C 7: 43,352,441 V225A probably damaging Het
Slc36a1 A G 11: 55,219,604 I86V probably benign Het
Slc6a13 A G 6: 121,332,448 Y306C probably damaging Het
Soat2 T A 15: 102,157,643 L250Q probably damaging Het
Tex38 A G 4: 115,780,565 S14P probably damaging Het
Tm2d1 A T 4: 98,380,684 C59S possibly damaging Het
Tmco1 A G 1: 167,316,279 D82G probably damaging Het
Tnip1 G T 11: 54,940,826 Y7* probably null Het
Trp73 A G 4: 154,104,873 M48T probably benign Het
Tslp T C 18: 32,815,559 probably benign Het
Usp47 T C 7: 112,089,620 F745L probably damaging Het
Vmn2r53 T A 7: 12,600,864 T290S probably benign Het
Wdr1 T C 5: 38,561,129 D30G probably benign Het
Zkscan2 T C 7: 123,494,850 Y247C probably benign Het
Other mutations in Tmem245
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02472:Tmem245 APN 4 56899119 missense probably damaging 1.00
IGL02668:Tmem245 APN 4 56925081 missense possibly damaging 0.86
Integral UTSW 4 56899170 missense possibly damaging 0.79
leibniz UTSW 4 56916770 missense probably benign 0.02
R0090:Tmem245 UTSW 4 56899410 missense probably benign
R0116:Tmem245 UTSW 4 56926213 missense probably benign 0.00
R0648:Tmem245 UTSW 4 56906270 missense probably benign 0.38
R0864:Tmem245 UTSW 4 56890837 missense probably damaging 1.00
R1102:Tmem245 UTSW 4 56903200 intron probably benign
R1548:Tmem245 UTSW 4 56906233 nonsense probably null
R1778:Tmem245 UTSW 4 56903968 missense probably damaging 1.00
R1840:Tmem245 UTSW 4 56903947 missense probably benign 0.03
R1942:Tmem245 UTSW 4 56923511 unclassified probably benign
R1969:Tmem245 UTSW 4 56937964 missense probably benign 0.01
R2341:Tmem245 UTSW 4 56937957 missense probably damaging 1.00
R2364:Tmem245 UTSW 4 56899391 missense probably damaging 0.96
R3848:Tmem245 UTSW 4 56926298 unclassified probably benign
R4591:Tmem245 UTSW 4 56910204 missense probably damaging 0.99
R4772:Tmem245 UTSW 4 56937989 splice site probably null
R4779:Tmem245 UTSW 4 56936468 missense possibly damaging 0.65
R4860:Tmem245 UTSW 4 56899164 missense probably damaging 1.00
R4860:Tmem245 UTSW 4 56899164 missense probably damaging 1.00
R5049:Tmem245 UTSW 4 56925057 missense probably benign 0.12
R5061:Tmem245 UTSW 4 56946945 missense possibly damaging 0.94
R5199:Tmem245 UTSW 4 56925149 missense probably benign 0.12
R5377:Tmem245 UTSW 4 56947084 missense probably damaging 0.99
R5547:Tmem245 UTSW 4 56910156 critical splice donor site probably null
R5846:Tmem245 UTSW 4 56903241 missense probably benign 0.00
R5851:Tmem245 UTSW 4 56916770 missense probably benign 0.02
R5991:Tmem245 UTSW 4 56916733 missense probably damaging 1.00
R6314:Tmem245 UTSW 4 56888592 missense possibly damaging 0.88
R6992:Tmem245 UTSW 4 56937940 missense probably benign 0.03
R7172:Tmem245 UTSW 4 56903946 missense possibly damaging 0.65
R7632:Tmem245 UTSW 4 56916787 missense probably benign 0.00
R7660:Tmem245 UTSW 4 56899170 missense possibly damaging 0.79
R7672:Tmem245 UTSW 4 56947069 missense probably benign
R7735:Tmem245 UTSW 4 56925155 missense probably benign 0.22
R7900:Tmem245 UTSW 4 56924973 splice site probably null
R8280:Tmem245 UTSW 4 56890884 missense possibly damaging 0.89
R8306:Tmem245 UTSW 4 56886037 missense probably damaging 0.96
R8446:Tmem245 UTSW 4 56906261 missense probably benign 0.24
R8447:Tmem245 UTSW 4 56906261 missense probably benign 0.24
R8491:Tmem245 UTSW 4 56906261 missense probably benign 0.24
R8524:Tmem245 UTSW 4 56906261 missense probably benign 0.24
R8750:Tmem245 UTSW 4 56886141 missense probably damaging 1.00
R8756:Tmem245 UTSW 4 56899025 critical splice donor site probably null
R8899:Tmem245 UTSW 4 56903916 critical splice donor site probably null
R9035:Tmem245 UTSW 4 56922384 intron probably benign
R9267:Tmem245 UTSW 4 56947236 missense probably benign 0.03
R9292:Tmem245 UTSW 4 56937979 missense probably benign 0.07
R9292:Tmem245 UTSW 4 56926173 unclassified probably benign
R9667:Tmem245 UTSW 4 56947119 missense probably damaging 0.98
Z1189:Tmem245 UTSW 4 56937901 missense probably benign
Posted On 2016-08-02