Incidental Mutation 'R4031:Tm9sf4'
ID313478
Institutional Source Beutler Lab
Gene Symbol Tm9sf4
Ensembl Gene ENSMUSG00000068040
Gene Nametransmembrane 9 superfamily protein member 4
Synonyms
MMRRC Submission 040960-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4031 (G1)
Quality Score222
Status Validated
Chromosome2
Chromosomal Location153161303-153210466 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 153198344 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089027]
Predicted Effect probably benign
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: ENSMUST00000134922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152807
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 95% (52/55)
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
Abcc12 G T 8: 86,517,448 F1025L probably damaging Het
Acss2 C T 2: 155,557,210 T477I probably damaging Het
Aplp2 G A 9: 31,157,730 P601L probably benign Het
Arl2bp T C 8: 94,667,653 I32T probably damaging Het
Avpi1 C A 19: 42,124,741 probably benign Het
C030005K15Rik T C 10: 97,725,542 Y109C unknown Het
Ccdc150 T A 1: 54,278,811 M303K probably benign Het
Chrna5 T C 9: 54,998,086 W61R probably damaging Het
Copa T C 1: 172,108,375 V428A probably damaging Het
Crybb3 A G 5: 113,079,869 Y29H probably damaging Het
Dcun1d4 A G 5: 73,534,637 D89G probably damaging Het
Disp2 T C 2: 118,791,880 I1031T probably benign Het
Elf1 A C 14: 79,569,283 K161Q probably damaging Het
Fndc1 A T 17: 7,769,752 Y1159* probably null Het
Hspa12a T C 19: 58,800,857 N449S probably benign Het
Hyal4 A G 6: 24,756,224 E147G probably damaging Het
Hydin T C 8: 110,610,047 I5152T probably benign Het
Ighv9-1 C T 12: 114,094,224 A19T probably benign Het
Kcnt1 T G 2: 25,916,048 S1216R possibly damaging Het
Kdm5d T A Y: 916,910 V435E probably damaging Het
Klhl30 G A 1: 91,361,157 R546H probably benign Het
Lrp1b C T 2: 40,702,848 G3753D probably benign Het
Ltbp3 G A 19: 5,754,022 R854Q probably benign Het
Macf1 A G 4: 123,381,312 L6303P probably damaging Het
Mblac2 T C 13: 81,750,089 S195P possibly damaging Het
Mindy3 A C 2: 12,401,083 probably null Het
Neurod1 C T 2: 79,454,026 D338N probably benign Het
Polr1e A T 4: 45,018,685 E5V probably benign Het
Polr2b G A 5: 77,348,405 R1141H possibly damaging Het
Ppp2r2a T C 14: 67,028,976 S79G probably damaging Het
Psmd2 G A 16: 20,663,205 G896D probably damaging Het
Rap1gds1 T C 3: 139,050,592 probably benign Het
Rsph10b A G 5: 143,985,668 probably null Het
Slc26a10 A G 10: 127,178,002 V297A possibly damaging Het
Slc26a5 T C 5: 21,847,191 K47E probably damaging Het
Slurp1 T C 15: 74,727,487 E58G probably damaging Het
Spo11 T A 2: 172,986,832 probably benign Het
Trak1 T C 9: 121,451,670 I272T probably damaging Het
Tshz1 T C 18: 84,014,829 K485E possibly damaging Het
Ttn T A 2: 76,754,824 I22042F probably damaging Het
Unc79 T A 12: 103,072,759 S671T possibly damaging Het
Usp43 G T 11: 67,913,833 A186D probably damaging Het
Vmn2r107 G A 17: 20,375,221 V679I probably benign Het
Vsig10l C T 7: 43,465,374 A333V probably damaging Het
Vwa3a G A 7: 120,768,232 probably null Het
Wdr49 C A 3: 75,323,665 L563F probably benign Het
Wnk1 T C 6: 119,951,068 T1141A probably damaging Het
Zfp236 T A 18: 82,624,465 E1052V probably damaging Het
Zfp317 A T 9: 19,646,712 H163L possibly damaging Het
Zfp975 G A 7: 42,662,953 Q79* probably null Het
Other mutations in Tm9sf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Tm9sf4 APN 2 153202355 missense probably damaging 1.00
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
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
R7740:Tm9sf4 UTSW 2 153208743 missense probably damaging 1.00
R7848:Tm9sf4 UTSW 2 153202355 missense probably damaging 1.00
R7931:Tm9sf4 UTSW 2 153202355 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGCAGAACATCGCCAATTC -3'
(R):5'- GTTCCCAAGCCTGCAGAAAG -3'

Sequencing Primer
(F):5'- TCGCCAATTCAAAAGATCCTAAGTAG -3'
(R):5'- TTCAACCCCTACAGCTGGG -3'
Posted On2015-04-30