Incidental Mutation 'IGL00469:Tm9sf4'
ID14476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm9sf4
Ensembl Gene ENSMUSG00000068040
Gene Nametransmembrane 9 superfamily protein member 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00469
Quality Score
Status
Chromosome2
Chromosomal Location153161303-153210466 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 153202355 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 509 (I509T)
Ref Sequence ENSEMBL: ENSMUSP00000086422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089027]
Predicted Effect probably damaging
Transcript: ENSMUST00000089027
AA Change: I509T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086422
Gene: ENSMUSG00000068040
AA Change: I509T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:EMP70 55 600 5.3e-203 PFAM
transmembrane domain 605 627 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152807
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutants exhibit abnormal hair follicles and sebaceous glands, vertebrae and rib abnormalities, and increased circulating cholesterol, calcium, albumin, and total protein levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430105I19Rik T C 2: 118,759,689 S225G possibly damaging Het
Cacna2d4 A G 6: 119,268,278 I316V probably damaging Het
Ccnb1ip1 G A 14: 50,792,099 R169C probably damaging Het
Crip1 G T 12: 113,152,135 D59Y probably damaging Het
Cstf2 T A X: 134,074,156 H354Q probably damaging Het
Dchs1 A T 7: 105,755,261 D2691E probably damaging Het
Dock2 T C 11: 34,229,603 probably benign Het
Fam199x T C X: 137,072,111 I222T probably damaging Het
Flt1 A T 5: 147,603,605 L758Q probably damaging Het
Fxr2 T G 11: 69,642,139 L181R possibly damaging Het
Gm4450 T A 3: 98,456,400 Q43L probably benign Het
Gpr158 G T 2: 21,746,795 probably benign Het
Lancl2 T C 6: 57,734,026 W390R probably damaging Het
Pet2 C A X: 89,406,338 V62F possibly damaging Het
Pola1 C T X: 93,594,785 V459I possibly damaging Het
Pola1 T C X: 93,561,385 T981A probably damaging Het
Prss44 T C 9: 110,815,489 S222P probably benign Het
Sec16a T C 2: 26,428,300 N1593S probably damaging Het
Slco2b1 A G 7: 99,660,111 I671T probably benign Het
Trpc6 A G 9: 8,626,701 T351A probably benign Het
Utrn T C 10: 12,406,529 Q768R probably damaging Het
Zfp984 C T 4: 147,754,886 G503S probably benign Het
Other mutations in Tm9sf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02218:Tm9sf4 APN 2 153204616 missense probably benign 0.00
IGL02354:Tm9sf4 APN 2 153187650 missense probably benign
IGL02361:Tm9sf4 APN 2 153187650 missense probably benign
IGL03047:Tm9sf4 UTSW 2 153161406 utr 5 prime probably benign
R0079:Tm9sf4 UTSW 2 153191145 missense probably damaging 1.00
R0147:Tm9sf4 UTSW 2 153195313 missense probably benign 0.01
R0650:Tm9sf4 UTSW 2 153187365 missense probably benign 0.00
R0729:Tm9sf4 UTSW 2 153191145 missense probably damaging 1.00
R0739:Tm9sf4 UTSW 2 153203814 missense probably damaging 1.00
R1695:Tm9sf4 UTSW 2 153190912 missense probably benign 0.00
R2321:Tm9sf4 UTSW 2 153204586 missense probably damaging 1.00
R3608:Tm9sf4 UTSW 2 153178977 missense probably benign
R4031:Tm9sf4 UTSW 2 153198344 splice site probably benign
R4668:Tm9sf4 UTSW 2 153187308 missense probably damaging 1.00
R4669:Tm9sf4 UTSW 2 153187308 missense probably damaging 1.00
R5318:Tm9sf4 UTSW 2 153187656 missense probably benign
R5580:Tm9sf4 UTSW 2 153182430 missense probably damaging 1.00
R5705:Tm9sf4 UTSW 2 153182458 missense probably benign 0.00
R5870:Tm9sf4 UTSW 2 153194281 missense probably damaging 1.00
R5996:Tm9sf4 UTSW 2 153195571 splice site probably null
R6115:Tm9sf4 UTSW 2 153182489 critical splice donor site probably null
R7448:Tm9sf4 UTSW 2 153194347 missense probably benign 0.04
Posted On2012-12-06