Mutagenetix > Incidental Mutations

Incidental Mutation 'R4031:Tm9sf4'

313478

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf4

Ensembl Gene

ENSMUSG00000068040

Gene Name

transmembrane 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 Score

222

Status

Validated

Chromosome

Chromosomal Location

153161303-153210466 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 153198344 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-30