Incidental Mutation 'R6115:Tm9sf4'
ID 485062
Institutional Source Beutler Lab
Gene Symbol Tm9sf4
Ensembl Gene ENSMUSG00000068040
Gene Name transmembrane 9 superfamily member 4
Synonyms
MMRRC Submission 044264-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6115 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 153003223-153052386 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 153024409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089027]
AlphaFold Q8BH24
Predicted Effect probably null
Transcript: ENSMUST00000089027
SMART Domains Protein: ENSMUSP00000086422
Gene: ENSMUSG00000068040

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: ENSMUST00000137446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147978
Meta Mutation Damage Score 0.9505 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (51/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C G 5: 64,055,317 (GRCm39) Q18E probably damaging Het
Acsf3 T A 8: 123,517,411 (GRCm39) H402Q probably damaging Het
Adam34 T G 8: 44,105,098 (GRCm39) Q182H probably benign Het
Alx1 G A 10: 102,864,304 (GRCm39) P55L possibly damaging Het
Arhgef38 A T 3: 132,838,374 (GRCm39) probably null Het
Ccdc102a T C 8: 95,629,999 (GRCm39) N514S probably benign Het
Corin T A 5: 72,518,072 (GRCm39) T317S probably damaging Het
Ctnna2 A G 6: 77,613,822 (GRCm39) V256A probably benign Het
Dhx29 A T 13: 113,089,335 (GRCm39) probably null Het
Dnah2 C A 11: 69,337,475 (GRCm39) D3209Y probably damaging Het
Dnhd1 A G 7: 105,363,194 (GRCm39) T3919A probably benign Het
F7 T A 8: 13,083,958 (GRCm39) N214K probably benign Het
Fam3b T G 16: 97,276,568 (GRCm39) Q177H possibly damaging Het
Fign T C 2: 63,809,654 (GRCm39) I539V probably benign Het
Hc T G 2: 34,903,050 (GRCm39) D1067A probably damaging Het
Herc6 A G 6: 57,560,191 (GRCm39) D77G probably benign Het
Hmg20a A T 9: 56,397,116 (GRCm39) E305D possibly damaging Het
Il16 G A 7: 83,301,775 (GRCm39) Q116* probably null Het
Kif13a T A 13: 46,954,789 (GRCm39) I648F probably damaging Het
Lactb G T 9: 66,874,969 (GRCm39) N374K possibly damaging Het
Lmx1b T C 2: 33,459,118 (GRCm39) D145G probably damaging Het
Lrfn4 T C 19: 4,663,937 (GRCm39) D199G probably damaging Het
Lrrc49 A T 9: 60,522,444 (GRCm39) V307E possibly damaging Het
Magi1 A C 6: 93,685,051 (GRCm39) S776A possibly damaging Het
Mthfsl T A 9: 88,570,807 (GRCm39) *147L probably null Het
Nsmce4a G T 7: 130,148,722 (GRCm39) Q95K probably benign Het
Or1j15 A T 2: 36,458,963 (GRCm39) M118L probably damaging Het
Or4k37 A G 2: 111,159,558 (GRCm39) T265A probably benign Het
Or4k49 A T 2: 111,494,987 (GRCm39) K139* probably null Het
Or5b24 T C 19: 12,912,948 (GRCm39) V282A possibly damaging Het
Pcdha7 A G 18: 37,107,788 (GRCm39) E271G probably damaging Het
Pcdhga8 T A 18: 37,860,596 (GRCm39) F551I possibly damaging Het
Prpf31 T C 7: 3,642,705 (GRCm39) probably null Het
Qrfpr C T 3: 36,236,742 (GRCm39) V220I possibly damaging Het
Rnf170 T C 8: 26,615,994 (GRCm39) F95S possibly damaging Het
Scn9a T A 2: 66,393,973 (GRCm39) Y200F possibly damaging Het
Sfpq A T 4: 126,915,141 (GRCm39) probably null Het
Slc9c1 A T 16: 45,376,132 (GRCm39) Y406F probably damaging Het
Stk32c G T 7: 138,700,628 (GRCm39) Y200* probably null Het
Svil A G 18: 5,108,675 (GRCm39) R1938G probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tmc3 A T 7: 83,264,170 (GRCm39) M633L possibly damaging Het
Tmem163 T C 1: 127,605,185 (GRCm39) D61G possibly damaging Het
Unc5b C A 10: 60,613,325 (GRCm39) A304S probably benign Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Vmn2r18 A T 5: 151,508,462 (GRCm39) S221T possibly damaging Het
Vmn2r85 T G 10: 130,258,672 (GRCm39) Y461S probably damaging Het
Yod1 T C 1: 130,646,800 (GRCm39) F226L possibly damaging Het
Zbtb4 T C 11: 69,667,148 (GRCm39) I151T probably damaging Het
Zfp110 A T 7: 12,583,701 (GRCm39) Q783L probably damaging Het
Other mutations in Tm9sf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Tm9sf4 APN 2 153,044,275 (GRCm39) missense probably damaging 1.00
IGL02218:Tm9sf4 APN 2 153,046,536 (GRCm39) missense probably benign 0.00
IGL02354:Tm9sf4 APN 2 153,029,570 (GRCm39) missense probably benign
IGL02361:Tm9sf4 APN 2 153,029,570 (GRCm39) missense probably benign
IGL03047:Tm9sf4 UTSW 2 153,003,326 (GRCm39) utr 5 prime probably benign
R0079:Tm9sf4 UTSW 2 153,033,065 (GRCm39) missense probably damaging 1.00
R0147:Tm9sf4 UTSW 2 153,037,233 (GRCm39) missense probably benign 0.01
R0650:Tm9sf4 UTSW 2 153,029,285 (GRCm39) missense probably benign 0.00
R0729:Tm9sf4 UTSW 2 153,033,065 (GRCm39) missense probably damaging 1.00
R0739:Tm9sf4 UTSW 2 153,045,734 (GRCm39) missense probably damaging 1.00
R1695:Tm9sf4 UTSW 2 153,032,832 (GRCm39) missense probably benign 0.00
R2321:Tm9sf4 UTSW 2 153,046,506 (GRCm39) missense probably damaging 1.00
R3608:Tm9sf4 UTSW 2 153,020,897 (GRCm39) missense probably benign
R4031:Tm9sf4 UTSW 2 153,040,264 (GRCm39) splice site probably benign
R4668:Tm9sf4 UTSW 2 153,029,228 (GRCm39) missense probably damaging 1.00
R4669:Tm9sf4 UTSW 2 153,029,228 (GRCm39) missense probably damaging 1.00
R5318:Tm9sf4 UTSW 2 153,029,576 (GRCm39) missense probably benign
R5580:Tm9sf4 UTSW 2 153,024,350 (GRCm39) missense probably damaging 1.00
R5705:Tm9sf4 UTSW 2 153,024,378 (GRCm39) missense probably benign 0.00
R5870:Tm9sf4 UTSW 2 153,036,201 (GRCm39) missense probably damaging 1.00
R5996:Tm9sf4 UTSW 2 153,037,491 (GRCm39) splice site probably null
R7448:Tm9sf4 UTSW 2 153,036,267 (GRCm39) missense probably benign 0.04
R7740:Tm9sf4 UTSW 2 153,050,663 (GRCm39) missense probably damaging 1.00
R7848:Tm9sf4 UTSW 2 153,044,275 (GRCm39) missense probably damaging 1.00
R8426:Tm9sf4 UTSW 2 153,045,736 (GRCm39) missense probably damaging 1.00
R8726:Tm9sf4 UTSW 2 153,040,295 (GRCm39) missense probably damaging 0.99
R9577:Tm9sf4 UTSW 2 153,037,294 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- AACTCTTGCAGCAGCCTTC -3'
(R):5'- TGAGCCAATAAGGTAACATGCAC -3'

Sequencing Primer
(F):5'- GCAGCAGCCTTCTTGTTTCTGG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
Posted On 2017-08-16