Mutagenetix > Incidental Mutations

Incidental Mutation 'R0650:Tm9sf4'

62186

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf4

Ensembl Gene

ENSMUSG00000068040

Gene Name

transmembrane 9 superfamily protein member 4

Synonyms

MMRRC Submission

038835-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0650 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153161303-153210466 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153187365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 111 (I111T)

Ref Sequence

ENSEMBL: ENSMUSP00000086422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089027]

AlphaFold

Q8BH24

Predicted Effect

probably benign
Transcript: ENSMUST00000089027
AA Change: I111T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000086422
Gene: ENSMUSG00000068040
AA Change: I111T

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: ENSMUST00000137446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147978

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 69,945,785	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,910,056	D120G	probably damaging	Het
4930548H24Rik	T	C	5: 31,485,968		probably benign	Het
Adgrg5	T	A	8: 94,934,157		probably null	Het
Afg3l2	G	T	18: 67,415,557	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,656,221		probably benign	Het
Arid2	T	A	15: 96,402,049	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,164	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,781,699	D403V	possibly damaging	Het
BC024978	A	T	7: 27,202,647	H233L	probably damaging	Het
Bnc2	T	C	4: 84,293,196	D407G	probably benign	Het
Cdan1	A	G	2: 120,726,045	V633A	probably benign	Het
Cfap46	T	C	7: 139,605,655	Y2482C	unknown	Het
Chd8	T	C	14: 52,202,304	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,809,258	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,323,909	N18D	probably damaging	Het
Fis1	T	A	5: 136,962,194	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424		probably null	Het
Gm2381	C	T	7: 42,820,080	G207R	probably damaging	Het
Gpr89	T	A	3: 96,897,324		probably benign	Het
Gtf2i	A	G	5: 134,261,837		probably benign	Het
Herc2	T	G	7: 56,113,210	S896A	probably damaging	Het
Huwe1	T	C	X: 151,876,313	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,736,395	K936I	probably damaging	Het
Kcna4	T	A	2: 107,295,582	Y220*	probably null	Het
Krt18	A	G	15: 102,029,485	D139G	possibly damaging	Het
Krt83	T	C	15: 101,487,040	N392D	probably damaging	Het
L3mbtl4	G	A	17: 68,774,291	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,143,876	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,618,085	N98S	probably damaging	Het
Lrrk1	G	A	7: 66,292,336	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,482,918	I51V	probably damaging	Het
Myt1	A	T	2: 181,782,615	R25*	probably null	Het
Npdc1	C	T	2: 25,408,009	T199I	probably benign	Het
Nup98	T	A	7: 102,152,453	Y755F	probably damaging	Het
Olfr494	T	A	7: 108,367,789	C100S	probably damaging	Het
Olfr502	G	T	7: 108,523,082	N289K	probably damaging	Het
Olfr638	A	G	7: 104,003,239		probably null	Het
Olfr936	T	A	9: 39,046,700	M240L	probably benign	Het
Osgin1	A	T	8: 119,445,472	Y335F	probably damaging	Het
Pde10a	A	T	17: 8,942,965	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,079,708	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475		probably benign	Het
Pidd1	A	T	7: 141,440,813	L457*	probably null	Het
Pik3c2a	A	G	7: 116,346,247		probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,753,363		probably benign	Het
Prr13	A	C	15: 102,462,215	*138C	probably null	Het
Prrc2b	T	C	2: 32,229,255		probably benign	Het
Psph	T	C	5: 129,791,570		probably benign	Het
Ripor1	A	G	8: 105,618,114		probably benign	Het
Scg3	A	G	9: 75,669,335	S253P	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgk1	A	G	10: 21,882,657	N7D	probably damaging	Het
Skor2	T	C	18: 76,876,560	F940L	probably benign	Het
Slbp	T	C	5: 33,645,489		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Susd5	A	T	9: 114,082,535	H171L	possibly damaging	Het
Sybu	T	C	15: 44,673,268	E354G	probably benign	Het
Synpo	T	C	18: 60,602,340	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,628,159	I666N	probably damaging	Het
Tnc	T	C	4: 64,008,734	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 69,776,176	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,630	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,784,758	V22A	probably benign	Het
Ttn	A	T	2: 76,768,612	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,030,807		probably benign	Het
Ugt2b5	T	A	5: 87,139,768	Q191L	probably benign	Het
Urod	T	C	4: 116,991,276	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,011,394		probably benign	Het
Znfx1	G	A	2: 167,047,654	Q723*	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
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
R7740:Tm9sf4	UTSW	2	153208743	missense	probably damaging	1.00
R7848:Tm9sf4	UTSW	2	153202355	missense	probably damaging	1.00
R8426:Tm9sf4	UTSW	2	153203816	missense	probably damaging	1.00
R8726:Tm9sf4	UTSW	2	153198375	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GACTGCTAACTTCAGCCACCATAGG -3'
(R):5'- AAGCCAAGTCGGTAGCCATGTTC -3'

Sequencing Primer
(F):5'- CAGCCACCATAGGGCTGAAG -3'
(R):5'- GGTAGCCATGTTCAAACTGCAC -3'

Posted On

2013-07-30