Mutagenetix > Incidental Mutation

Incidental Mutation 'R9293:Stoml3'

704377

Institutional Source

Beutler Lab

Gene Symbol

Stoml3

Ensembl Gene

ENSMUSG00000027744

Gene Name

stomatin (Epb7.2)-like 3

Synonyms

SRO, SLP3

MMRRC Submission

068991-MU

Accession Numbers

Essential gene?

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

Stock #

R9293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53396074-53415923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53408185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 77 (V77A)

Ref Sequence

ENSEMBL: ENSMUSP00000029307 (fasta)

Gene Model

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

AlphaFold

Q6PE84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029307
AA Change: V77A

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029307
Gene: ENSMUSG00000027744
AA Change: V77A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

95% (54/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,839 (GRCm39)	S343P	possibly damaging	Het
4930563M21Rik	T	A	9: 55,916,568 (GRCm39)	E36D	unknown	Het
Abcc8	T	G	7: 45,756,092 (GRCm39)	K1450T	probably benign	Het
Aox1	A	T	1: 58,361,953 (GRCm39)	N720Y	possibly damaging	Het
BC034090	T	C	1: 155,101,518 (GRCm39)	T249A	probably benign	Het
Brf2	A	T	8: 27,614,021 (GRCm39)	S388R	probably damaging	Het
Ccdc180	A	T	4: 45,944,461 (GRCm39)	Q1437L	probably damaging	Het
Cdc42ep1	A	C	15: 78,734,025 (GRCm39)	D375A	probably benign	Het
Cep85l	T	C	10: 53,174,282 (GRCm39)	Y487C	probably damaging	Het
Cfap299	C	T	5: 98,646,162 (GRCm39)	A86V	probably benign	Het
Chd3	C	T	11: 69,244,027 (GRCm39)	R1346H	possibly damaging	Het
Cltc	T	A	11: 86,603,446 (GRCm39)	R793S	possibly damaging	Het
Crat	A	G	2: 30,298,214 (GRCm39)	F162L	probably benign	Het
Cyp3a44	C	A	5: 145,711,187 (GRCm39)	V495L	probably benign	Het
Dchs2	C	T	3: 83,189,361 (GRCm39)	T1575I	possibly damaging	Het
Ddx60	A	G	8: 62,462,994 (GRCm39)	T1292A	possibly damaging	Het
Dnah12	C	T	14: 26,495,016 (GRCm39)	A109V	probably benign	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fry	T	C	5: 150,419,297 (GRCm39)	S546P		Het
Hfe	T	C	13: 23,890,792 (GRCm39)	K204E	probably benign	Het
Hibch	T	A	1: 52,952,986 (GRCm39)	Y329N	probably damaging	Het
Irf9	T	G	14: 55,846,247 (GRCm39)	I426S	probably damaging	Het
Kif26a	C	A	12: 112,112,835 (GRCm39)	P13T	probably damaging	Het
Lhx5	A	C	5: 120,570,451 (GRCm39)	K36Q	probably benign	Het
Mdn1	T	C	4: 32,707,579 (GRCm39)	S1623P	probably damaging	Het
Mre11a	T	C	9: 14,710,884 (GRCm39)	F193L	probably damaging	Het
Mybl2	G	A	2: 162,910,135 (GRCm39)	G187E	probably damaging	Het
Myh1	A	T	11: 67,099,929 (GRCm39)	Q613L	probably benign	Het
Myo5a	T	A	9: 75,087,312 (GRCm39)	M1056K	probably benign	Het
Or1e16	T	C	11: 73,285,955 (GRCm39)	K298E	probably damaging	Het
Or4a27	G	A	2: 88,559,799 (GRCm39)	T48I	probably benign	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or8b3b	T	C	9: 38,584,414 (GRCm39)	I109V	probably damaging	Het
Pcdhga12	G	A	18: 37,900,940 (GRCm39)	V591M	probably damaging	Het
Phyhipl	A	G	10: 70,401,116 (GRCm39)	S161P	probably damaging	Het
Pmfbp1	A	G	8: 110,263,205 (GRCm39)	T775A	probably benign	Het
Pou3f3	T	C	1: 42,736,682 (GRCm39)	V126A	unknown	Het
Reg4	A	C	3: 98,143,631 (GRCm39)	K142Q	possibly damaging	Het
Rimoc1	T	C	15: 4,021,336 (GRCm39)	D73G	probably damaging	Het
Sec22c	G	T	9: 121,517,314 (GRCm39)	A199E	probably damaging	Het
Sema3d	C	T	5: 12,603,181 (GRCm39)	P395S	probably damaging	Het
Sh2b2	C	T	5: 136,260,893 (GRCm39)	E108K	possibly damaging	Het
Slfn3	A	G	11: 83,105,616 (GRCm39)	K538E	possibly damaging	Het
Spatc1l	A	T	10: 76,405,200 (GRCm39)	D194V	probably damaging	Het
Taco1	A	G	11: 105,963,930 (GRCm39)	I230V	probably benign	Het
Tfcp2	T	C	15: 100,411,934 (GRCm39)	T346A	probably benign	Het
Tmem8b	C	T	4: 43,686,188 (GRCm39)	T273M	probably damaging	Het
Trav6-1	A	G	14: 52,876,299 (GRCm39)	N73S	probably benign	Het
Trav6d-5	A	G	14: 53,033,060 (GRCm39)	D103G	probably damaging	Het
Ttll5	T	A	12: 85,937,806 (GRCm39)	L379Q	probably damaging	Het
Ube3c	T	A	5: 29,803,846 (GRCm39)		probably benign	Het
Ubr3	A	C	2: 69,727,769 (GRCm39)	D44A	probably benign	Het
Upp2	G	T	2: 58,457,443 (GRCm39)	R5L	unknown	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r17	C	T	5: 109,600,712 (GRCm39)	T670I	probably damaging	Het
Zfp433	A	T	10: 81,556,122 (GRCm39)	H208L	probably damaging	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	possibly damaging	Het

Other mutations in Stoml3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01733:Stoml3	APN	3	53,405,548 (GRCm39)	missense	probably benign	0.00
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
R9519:Stoml3	UTSW	3	53,405,402 (GRCm39)	missense	probably benign
Z1176:Stoml3	UTSW	3	53,410,647 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCAGTGCTTTACCAAAGGC -3'
(R):5'- GCTGGGAATTAAGTCATCCTTTC -3'

Sequencing Primer
(F):5'- GTGCTTTACCAAAGGCTTTAATTCC -3'
(R):5'- CCCTGGTAGGTTAAAATGATGCTCC -3'

Posted On

2022-03-25