Incidental Mutation 'IGL03010:Tmem104'
ID407715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem104
Ensembl Gene ENSMUSG00000045980
Gene Nametransmembrane protein 104
SynonymsC630005D06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03010
Quality Score
Status
Chromosome11
Chromosomal Location115187487-115247023 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115243534 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 298 (S298P)
Ref Sequence ENSEMBL: ENSMUSP00000097807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061450] [ENSMUST00000100235]
Predicted Effect probably benign
Transcript: ENSMUST00000061450
AA Change: S299P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000056805
Gene: ENSMUSG00000045980
AA Change: S299P

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: S298P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000097807
Gene: ENSMUSG00000045980
AA Change: S298P

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: ENSMUST00000156230
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Adamts4 T C 1: 171,251,416 C202R probably damaging Het
Afap1l1 T C 18: 61,743,319 D409G probably benign Het
Atp6v1b2 T C 8: 69,105,882 I334T probably damaging Het
Btn2a2 A T 13: 23,486,205 Y119* probably null Het
Cct2 T C 10: 117,058,114 D245G probably damaging Het
Ercc2 A G 7: 19,391,566 K486E possibly damaging Het
Fam186b T C 15: 99,280,627 S273G possibly damaging Het
Fbxw24 T A 9: 109,623,610 I106L probably benign Het
Ghrhr T C 6: 55,384,757 I303T probably damaging Het
Habp2 T C 19: 56,311,223 probably null Het
Haus3 T A 5: 34,166,287 E326D probably benign Het
Hdac7 C T 15: 97,793,929 probably null Het
Hectd2 T A 19: 36,615,602 D722E probably benign Het
Il20ra G T 10: 19,749,212 G80W probably damaging Het
Jag1 T C 2: 137,093,198 probably benign Het
Lrp1b A G 2: 42,323,606 S65P possibly damaging Het
Lypd2 A G 15: 74,734,253 I12T probably benign Het
Nat2 T A 8: 67,502,012 L258Q probably damaging Het
Nwd1 T C 8: 72,688,060 probably benign Het
Olfr10 T A 11: 49,318,146 V200E probably damaging Het
Olfr206 A G 16: 59,344,772 probably benign Het
Olfr788 G T 10: 129,472,974 C94F probably damaging Het
Pcdh15 T A 10: 74,385,945 D692E probably damaging Het
Prkcz G T 4: 155,286,805 H134N probably damaging Het
Prmt8 T C 6: 127,729,535 T98A probably benign Het
Rps6kc1 C A 1: 190,911,606 E19* probably null Het
Rrp8 A G 7: 105,734,391 S223P probably benign Het
Sept10 G A 10: 59,170,955 probably benign Het
Serpinb7 T C 1: 107,452,011 probably benign Het
Spaca6 C A 17: 17,838,405 Q72K probably benign Het
Spag1 A G 15: 36,233,273 H712R probably benign Het
Spg11 C A 2: 122,088,320 A943S probably damaging Het
Ttn A G 2: 76,735,088 I28265T probably damaging Het
Usp33 G T 3: 152,368,596 V360F probably benign Het
Vmn2r113 A G 17: 22,956,064 T550A possibly damaging Het
Zscan4d A T 7: 11,163,143 V128D probably damaging Het
Other mutations in Tmem104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Tmem104 APN 11 115243937 missense probably damaging 1.00
IGL02948:Tmem104 APN 11 115197296 missense probably damaging 1.00
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
Posted On2016-08-02