Mutagenetix > Incidental Mutation

Incidental Mutation 'R5717:Stoml3'

451206

Institutional Source

Beutler Lab

Gene Symbol

Stoml3

Ensembl Gene

ENSMUSG00000027744

Gene Name

stomatin (Epb7.2)-like 3

Synonyms

SRO, SLP3

MMRRC Submission

043337-MU

Accession Numbers

Essential gene?

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

Stock #

R5717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53396074-53415923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53412937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 197 (Q197L)

Ref Sequence

ENSEMBL: ENSMUSP00000029307 (fasta)

Gene Model

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

AlphaFold

Q6PE84

Predicted Effect

probably damaging
Transcript: ENSMUST00000029307
AA Change: Q197L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029307
Gene: ENSMUSG00000027744
AA Change: Q197L

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: ENSMUST00000198286

Meta Mutation Damage Score

0.2204

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (48/49)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	A	T	19: 42,041,484 (GRCm39)	H205L	probably benign	Het
Acss2	T	C	2: 155,403,073 (GRCm39)	L617S	probably damaging	Het
Adgrl4	T	C	3: 151,197,971 (GRCm39)	V77A	probably benign	Het
Adnp2	A	G	18: 80,171,479 (GRCm39)	S977P	probably benign	Het
Ankrd11	T	C	8: 123,619,377 (GRCm39)	K1492E	possibly damaging	Het
B4galt5	G	A	2: 167,148,549 (GRCm39)	R190C	probably damaging	Het
Bbs1	A	G	19: 4,947,354 (GRCm39)	V355A	possibly damaging	Het
Cenpj	GTTTT	GTTTTT	14: 56,790,978 (GRCm39)		probably null	Het
Ckap2	T	C	8: 22,665,063 (GRCm39)	E467G	probably damaging	Het
Cry1	A	T	10: 84,982,280 (GRCm39)	H355Q	probably damaging	Het
Cspg4	G	T	9: 56,793,082 (GRCm39)	M272I	probably benign	Het
Dicer1	T	A	12: 104,671,387 (GRCm39)	Y961F	probably damaging	Het
Epha2	A	T	4: 141,049,382 (GRCm39)	M689L	probably benign	Het
Foxc1	C	T	13: 31,991,471 (GRCm39)	A94V	probably benign	Het
Fras1	T	C	5: 96,929,596 (GRCm39)	V4000A	possibly damaging	Het
Frmd8	G	T	19: 5,923,396 (GRCm39)		probably benign	Het
Gm5218	A	G	15: 81,383,478 (GRCm39)		noncoding transcript	Het
Gm7735	T	C	16: 88,966,430 (GRCm39)	L18P	unknown	Het
Hr	C	T	14: 70,803,616 (GRCm39)	T808I	probably benign	Het
Hyal6	T	C	6: 24,743,690 (GRCm39)	M462T	probably benign	Het
Igkv6-20	T	A	6: 70,313,412 (GRCm39)		probably benign	Het
Igkv8-27	T	A	6: 70,148,918 (GRCm39)	T59S	probably benign	Het
Itga11	A	G	9: 62,659,531 (GRCm39)	T428A	probably benign	Het
Klk1b16	A	G	7: 43,788,913 (GRCm39)	I49V	probably benign	Het
Matn2	G	T	15: 34,399,237 (GRCm39)	E375*	probably null	Het
Msgn1	T	C	12: 11,258,519 (GRCm39)	Y144C	probably damaging	Het
Myh1	A	G	11: 67,099,782 (GRCm39)	N564S	probably benign	Het
Mypn	A	G	10: 62,963,555 (GRCm39)	V972A	probably damaging	Het
Or4c29	T	C	2: 88,740,366 (GRCm39)	I124V	possibly damaging	Het
Or5an11	A	G	19: 12,246,520 (GRCm39)	K309E	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Ppp2r5d	A	G	17: 46,998,820 (GRCm39)	S81P	probably damaging	Het
Ptgis	C	T	2: 167,050,284 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,018 (GRCm39)	N25S	probably benign	Het
Rnf123	G	A	9: 107,944,623 (GRCm39)	T456I	probably damaging	Het
Rpl6l	T	C	10: 110,961,884 (GRCm39)		noncoding transcript	Het
Rps25	A	G	9: 44,320,047 (GRCm39)	Y23C	probably benign	Het
Sec24a	A	G	11: 51,598,037 (GRCm39)	V879A	probably benign	Het
Sema6a	G	A	18: 47,382,330 (GRCm39)	A739V	probably benign	Het
Senp6	A	T	9: 79,999,594 (GRCm39)	I4F	probably damaging	Het
Slc49a4	A	G	16: 35,539,799 (GRCm39)	F341L	probably benign	Het
Ttn	T	A	2: 76,578,091 (GRCm39)	K24267N	probably damaging	Het
Vmn1r43	T	C	6: 89,846,905 (GRCm39)	S194G	probably damaging	Het
Vmn2r17	C	T	5: 109,575,140 (GRCm39)	T149I	possibly damaging	Het
Wdr72	T	A	9: 74,055,487 (GRCm39)	Y239N	probably damaging	Het
Zfp423	A	T	8: 88,413,187 (GRCm39)		probably null	Het
Zfp759	T	A	13: 67,286,772 (GRCm39)	C114S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GAGTTCAGAAAAGACAGCCTCC -3'
(R):5'- ACAGTGGCCACAGTTCATCC -3'

Sequencing Primer
(F):5'- GCCTCCCCAAACGTACCAG -3'
(R):5'- TCATGGCTCCACATGCAG -3'

Posted On

2017-01-03