Incidental Mutation 'IGL02668:Tmem245'
ID 302828
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 # IGL02668
Quality Score
Status
Chromosome 4
Chromosomal Location 56866923-56947437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56925081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 347 (K347E)
Ref Sequence ENSEMBL: ENSMUSP00000103234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068792] [ENSMUST00000107609] [ENSMUST00000132816]
AlphaFold B1AZA5
Predicted Effect probably benign
Transcript: ENSMUST00000068792
AA Change: K347E

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: K347E

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 possibly damaging
Transcript: ENSMUST00000107609
AA Change: K347E

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: K347E

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 benign
Transcript: ENSMUST00000132816
SMART Domains Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,532,074 (GRCm39) M167T probably benign Het
Abcc4 G T 14: 118,848,887 (GRCm39) S488R probably damaging Het
Adprm G T 11: 66,931,073 (GRCm39) D230E possibly damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bltp3a A C 17: 28,105,549 (GRCm39) I692L possibly damaging Het
Ccdc66 T C 14: 27,219,298 (GRCm39) K309E possibly damaging Het
Cyb561d2 C T 9: 107,417,371 (GRCm39) A127T probably benign Het
Dctn1 T A 6: 83,168,030 (GRCm39) M357K possibly damaging Het
Diras2 T C 13: 52,661,806 (GRCm39) N167S probably benign Het
Dmgdh T G 13: 93,840,418 (GRCm39) V283G probably damaging Het
Dmxl2 A T 9: 54,324,229 (GRCm39) W1052R probably damaging Het
Dnah6 A T 6: 73,098,806 (GRCm39) V2083D possibly damaging Het
Dnai7 G T 6: 145,150,983 (GRCm39) R30S unknown Het
Exoc4 T G 6: 33,898,467 (GRCm39) F895L probably benign Het
Fsip1 G T 2: 118,082,206 (GRCm39) A76E probably benign Het
Fsip2 A G 2: 82,828,662 (GRCm39) I6820V probably benign Het
Hdac10 G A 15: 89,009,847 (GRCm39) P395L probably benign Het
Ing3 A G 6: 21,950,058 (GRCm39) D17G probably damaging Het
Map3k4 A T 17: 12,454,840 (GRCm39) F1383L possibly damaging Het
Myct1 C A 10: 5,554,513 (GRCm39) P127T probably damaging Het
Or52s1 A T 7: 102,861,942 (GRCm39) I281F possibly damaging Het
Osbpl7 G T 11: 96,958,031 (GRCm39) A625S possibly damaging Het
Padi2 C T 4: 140,677,191 (GRCm39) R660C probably benign Het
Paip1 A T 13: 119,574,607 (GRCm39) I185F probably damaging Het
Pals2 C T 6: 50,171,509 (GRCm39) T386I probably damaging Het
Phykpl G A 11: 51,484,514 (GRCm39) probably null Het
Plekhg6 G A 6: 125,349,766 (GRCm39) probably benign Het
Plxna1 A T 6: 89,334,251 (GRCm39) L126* probably null Het
Rchy1 A T 5: 92,110,577 (GRCm39) M1K probably null Het
Rfx3 T C 19: 27,793,014 (GRCm39) probably benign Het
Sdr9c7 T C 10: 127,738,267 (GRCm39) F182L probably damaging Het
Sgpl1 A C 10: 60,941,229 (GRCm39) V294G probably damaging Het
Sh2b1 A G 7: 126,071,646 (GRCm39) S180P possibly damaging Het
Sorbs1 T C 19: 40,303,125 (GRCm39) D488G probably damaging Het
Stab2 A G 10: 86,682,027 (GRCm39) probably benign Het
Sycp1 A C 3: 102,727,847 (GRCm39) probably benign Het
Tnk1 A G 11: 69,747,749 (GRCm39) M51T probably damaging Het
Trpm2 C T 10: 77,771,776 (GRCm39) R621H probably damaging Het
Ubd G T 17: 37,506,420 (GRCm39) R102L probably benign Het
Vmn2r103 G T 17: 20,014,389 (GRCm39) A394S probably benign Het
Zfp324 T A 7: 12,704,773 (GRCm39) C321S probably damaging Het
Zfp488 G T 14: 33,692,777 (GRCm39) Q129K probably benign Het
Zmpste24 T A 4: 120,918,297 (GRCm39) N442Y probably damaging Het
Other mutations in Tmem245
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02472:Tmem245 APN 4 56,899,119 (GRCm39) missense probably damaging 1.00
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