Incidental Mutation 'IGL02948:Tmem104'
ID 364838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem104
Ensembl Gene ENSMUSG00000045980
Gene Name transmembrane protein 104
Synonyms C630005D06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02948
Quality Score
Status
Chromosome 11
Chromosomal Location 115187487-115247023 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115197296 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 36 (A36S)
Ref Sequence ENSEMBL: ENSMUSP00000056805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061450] [ENSMUST00000100235]
AlphaFold Q3TB48
Predicted Effect probably damaging
Transcript: ENSMUST00000061450
AA Change: A36S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056805
Gene: ENSMUSG00000045980
AA Change: A36S

DomainStartEndE-ValueType
Pfam:Aa_trans 13 77 3.4e-10 PFAM
low complexity region 84 100 N/A INTRINSIC
Pfam:Aa_trans 128 487 4.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100235
AA Change: A36S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097807
Gene: ENSMUSG00000045980
AA Change: A36S

DomainStartEndE-ValueType
Pfam:Aa_trans 13 81 5.5e-11 PFAM
low complexity region 84 100 N/A INTRINSIC
Pfam:Aa_trans 127 485 1.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156230
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,319 probably benign Het
Ano3 A T 2: 110,697,018 probably benign Het
Arpp21 T C 9: 112,176,200 Y193C probably damaging Het
Atm G A 9: 53,453,440 probably benign Het
Ceacam13 C T 7: 18,011,063 probably benign Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Clec7a A C 6: 129,465,478 D195E possibly damaging Het
Cnksr1 T C 4: 134,235,106 probably null Het
Cntn1 A G 15: 92,246,010 T285A probably benign Het
Dusp4 G T 8: 34,818,572 G329V probably damaging Het
Emb C A 13: 117,273,066 probably benign Het
Esyt1 A T 10: 128,519,171 S496T probably damaging Het
Evpl T C 11: 116,221,822 T1681A probably damaging Het
Fam131b A C 6: 42,320,992 probably benign Het
Fam162b T C 10: 51,587,296 M92V probably damaging Het
Fbxw2 T C 2: 34,805,711 *455W probably null Het
Gm12886 A G 4: 121,423,037 L14P unknown Het
Gpc4 A T X: 52,074,301 V235E probably damaging Het
Gss A G 2: 155,577,621 L170P probably damaging Het
Hbs1l C T 10: 21,341,711 probably benign Het
Hhatl T C 9: 121,789,791 M92V probably benign Het
Hhla1 A T 15: 65,942,693 L194H probably damaging Het
Hivep2 C A 10: 14,129,013 R452S probably benign Het
Homer2 C A 7: 81,649,645 W24L probably damaging Het
Lhcgr A T 17: 88,742,622 L492H probably damaging Het
Lrba C A 3: 86,310,384 probably null Het
Lrp2 G T 2: 69,487,837 P2090Q probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Madd T A 2: 91,142,827 M1497L probably benign Het
Naprt C T 15: 75,892,357 R336Q probably damaging Het
Nars A G 18: 64,505,195 C266R possibly damaging Het
Olfr1420 T A 19: 11,896,781 Y253* probably null Het
Olfr175-ps1 T A 16: 58,824,088 Q207L probably benign Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pstpip2 A G 18: 77,854,807 N86S probably benign Het
Ptgfrn T C 3: 101,072,819 T402A probably benign Het
Rnf130 T C 11: 50,052,771 probably benign Het
Ropn1l T C 15: 31,451,179 D53G possibly damaging Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Rtn2 T C 7: 19,293,111 S17P probably damaging Het
Shank2 T C 7: 144,409,636 V327A probably benign Het
Slc22a16 T G 10: 40,573,962 Y131* probably null Het
Slc28a2 T A 2: 122,457,977 M583K possibly damaging Het
Slco1a6 G T 6: 142,133,235 probably null Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Strip1 T C 3: 107,613,266 R823G probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Trim55 T A 3: 19,670,952 L211Q probably damaging Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Unc13a C T 8: 71,650,549 R931H possibly damaging Het
Utp4 T A 8: 106,894,641 S17T probably benign Het
Other mutations in Tmem104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Tmem104 APN 11 115243937 missense probably damaging 1.00
IGL03010:Tmem104 APN 11 115243534 missense probably benign 0.01
R0107:Tmem104 UTSW 11 115202180 missense probably damaging 1.00
R0399:Tmem104 UTSW 11 115201308 splice site probably benign
R0534:Tmem104 UTSW 11 115200828 missense probably damaging 1.00
R2034:Tmem104 UTSW 11 115243547 missense probably benign 0.42
R2037:Tmem104 UTSW 11 115201395 missense possibly damaging 0.95
R4095:Tmem104 UTSW 11 115243923 nonsense probably null
R4640:Tmem104 UTSW 11 115243724 missense probably damaging 1.00
R4981:Tmem104 UTSW 11 115205136 missense probably damaging 1.00
R5011:Tmem104 UTSW 11 115243486 missense probably damaging 1.00
R5086:Tmem104 UTSW 11 115201401 missense probably damaging 0.98
R5522:Tmem104 UTSW 11 115188323 critical splice donor site probably null
R5602:Tmem104 UTSW 11 115205124 missense probably damaging 1.00
R6025:Tmem104 UTSW 11 115205523 nonsense probably null
R6247:Tmem104 UTSW 11 115243993 missense probably benign
R6522:Tmem104 UTSW 11 115243753 missense probably damaging 1.00
R7962:Tmem104 UTSW 11 115243481 missense probably damaging 0.99
R7980:Tmem104 UTSW 11 115243754 missense probably damaging 1.00
R8323:Tmem104 UTSW 11 115243373 missense probably damaging 1.00
R8552:Tmem104 UTSW 11 115197318 missense probably damaging 1.00
R9012:Tmem104 UTSW 11 115201318 missense probably benign 0.01
R9363:Tmem104 UTSW 11 115243865 missense probably benign 0.14
R9507:Tmem104 UTSW 11 115200873 missense probably damaging 1.00
Posted On 2015-12-18