Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01733:Stoml3'

105566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stoml3

Ensembl Gene

ENSMUSG00000027744

Gene Name

stomatin (Epb7.2)-like 3

Synonyms

SRO, SLP3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL01733

Quality Score

Status

Chromosome

Chromosomal Location

53396074-53415923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53405548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 50 (I50V)

Ref Sequence

ENSEMBL: ENSMUSP00000029307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029307]

AlphaFold

Q6PE84

Predicted Effect

probably benign
Transcript: ENSMUST00000029307
AA Change: I50V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029307
Gene: ENSMUSG00000027744
AA Change: I50V

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
PHB	45	204	3.56e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124702

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display loss of mechanoreceptor function and impaired tactile-driven behaviors. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	C	T	15: 91,075,817 (GRCm39)		probably benign	Het
Aco1	T	G	4: 40,175,738 (GRCm39)		probably benign	Het
Brinp3	T	C	1: 146,390,541 (GRCm39)	V29A	probably benign	Het
Brsk1	T	C	7: 4,709,071 (GRCm39)	Y361H	probably damaging	Het
Ccdc178	G	T	18: 22,157,869 (GRCm39)		probably benign	Het
Ces1f	A	G	8: 93,996,642 (GRCm39)	I217T	probably damaging	Het
Col6a6	T	A	9: 105,586,454 (GRCm39)	T1856S	possibly damaging	Het
Cuedc2	C	A	19: 46,321,112 (GRCm39)	V7F	probably damaging	Het
Cyp2d34	C	T	15: 82,502,861 (GRCm39)	V122M	possibly damaging	Het
Ddx60	T	C	8: 62,436,899 (GRCm39)	S949P	probably damaging	Het
Dlg5	G	A	14: 24,220,517 (GRCm39)	R554W	probably damaging	Het
Fig4	A	T	10: 41,153,389 (GRCm39)	N137K	possibly damaging	Het
Gpr155	C	T	2: 73,183,956 (GRCm39)		probably null	Het
Grk6	A	C	13: 55,599,204 (GRCm39)	N168T	possibly damaging	Het
Hfe	T	G	13: 23,890,848 (GRCm39)	K97T	possibly damaging	Het
Hsd3b2	C	T	3: 98,623,801 (GRCm39)	E26K	probably damaging	Het
Impg1	A	G	9: 80,249,206 (GRCm39)	S666P	probably damaging	Het
Itpkb	T	G	1: 180,160,734 (GRCm39)	S287A	possibly damaging	Het
Kcnh5	T	C	12: 75,011,966 (GRCm39)	D651G	probably benign	Het
Lemd3	C	T	10: 120,769,568 (GRCm39)	W588*	probably null	Het
Lepr	A	G	4: 101,622,279 (GRCm39)	T404A	probably benign	Het
Metap1d	A	G	2: 71,341,777 (GRCm39)	I124V	probably damaging	Het
Mrpl33	T	C	5: 31,779,733 (GRCm39)	V54A	probably benign	Het
Mybl1	A	T	1: 9,755,935 (GRCm39)	S205T	possibly damaging	Het
Mybpc2	T	A	7: 44,155,622 (GRCm39)	D877V	probably benign	Het
Nxph2	T	C	2: 23,290,137 (GRCm39)	V163A	probably benign	Het
Pakap	G	T	4: 57,856,488 (GRCm39)	V606L	probably benign	Het
Pex16	C	T	2: 92,209,173 (GRCm39)	P192S	probably damaging	Het
Ptprq	C	A	10: 107,498,460 (GRCm39)	M872I	probably benign	Het
Ripor1	C	T	8: 106,342,378 (GRCm39)	R150W	possibly damaging	Het
Spns2	A	T	11: 72,347,336 (GRCm39)	V423E	possibly damaging	Het
St6galnac2	C	T	11: 116,575,945 (GRCm39)	D169N	probably damaging	Het
Taar8c	A	G	10: 23,977,155 (GRCm39)	I219T	possibly damaging	Het
Ubap2	A	C	4: 41,195,862 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,052,579 (GRCm39)	D398G	probably damaging	Het

Other mutations in Stoml3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02394:Stoml3	APN	3	53,405,540 (GRCm39)	splice site	probably benign
IGL02406:Stoml3	APN	3	53,410,671 (GRCm39)	missense	probably damaging	1.00
3-1:Stoml3	UTSW	3	53,405,396 (GRCm39)	missense	probably benign	0.00
D3080:Stoml3	UTSW	3	53,405,415 (GRCm39)	missense	probably benign	0.29
R0755:Stoml3	UTSW	3	53,405,559 (GRCm39)	nonsense	probably null
R1377:Stoml3	UTSW	3	53,415,062 (GRCm39)	missense	probably benign
R1702:Stoml3	UTSW	3	53,412,852 (GRCm39)	missense	probably benign	0.00
R1945:Stoml3	UTSW	3	53,412,866 (GRCm39)	missense	possibly damaging	0.86
R2155:Stoml3	UTSW	3	53,415,008 (GRCm39)	missense	probably damaging	1.00
R3890:Stoml3	UTSW	3	53,414,875 (GRCm39)	missense	probably damaging	1.00
R5048:Stoml3	UTSW	3	53,408,213 (GRCm39)	missense	possibly damaging	0.64
R5717:Stoml3	UTSW	3	53,412,937 (GRCm39)	missense	probably damaging	1.00
R6275:Stoml3	UTSW	3	53,414,927 (GRCm39)	missense	probably damaging	0.98
R6291:Stoml3	UTSW	3	53,414,937 (GRCm39)	missense	probably damaging	1.00
R7686:Stoml3	UTSW	3	53,410,589 (GRCm39)	missense	probably damaging	1.00
R9258:Stoml3	UTSW	3	53,405,397 (GRCm39)	missense	possibly damaging	0.95
R9293:Stoml3	UTSW	3	53,408,185 (GRCm39)	missense	possibly damaging	0.61
R9519:Stoml3	UTSW	3	53,405,402 (GRCm39)	missense	probably benign
Z1176:Stoml3	UTSW	3	53,410,647 (GRCm39)	nonsense	probably null

Posted On

2014-01-21