Mutagenetix > Incidental Mutation

Incidental Mutation 'R1344:Stoml2'

200709

Institutional Source

Beutler Lab

Gene Symbol

Stoml2

Ensembl Gene

ENSMUSG00000028455

Gene Name

stomatin (Epb7.2)-like 2

Synonyms

SLP-2, 0610038F01Rik

MMRRC Submission

039409-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R1344 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43027690-43031402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43028197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 344 (I344F)

Ref Sequence

ENSEMBL: ENSMUSP00000030169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030169] [ENSMUST00000036462] [ENSMUST00000067481] [ENSMUST00000098109] [ENSMUST00000107956] [ENSMUST00000107957] [ENSMUST00000107958] [ENSMUST00000138030] [ENSMUST00000135067] [ENSMUST00000136326] [ENSMUST00000107959]

AlphaFold

Q99JB2

Predicted Effect

probably benign
Transcript: ENSMUST00000030169
AA Change: I344F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455
AA Change: I344F

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PHB	36	194	1.47e-57	SMART
coiled coil region	231	252	N/A	INTRINSIC
Pfam:Band_7_C	259	321	2.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036462

SMART Domains

Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	479	537	8.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067481

SMART Domains

Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Phosphodiest	173	300	7.3e-17	PFAM
low complexity region	308	321	N/A	INTRINSIC
low complexity region	323	336	N/A	INTRINSIC
low complexity region	349	360	N/A	INTRINSIC
low complexity region	417	428	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	477	499	N/A	INTRINSIC
transmembrane domain	509	528	N/A	INTRINSIC
low complexity region	539	559	N/A	INTRINSIC
transmembrane domain	669	688	N/A	INTRINSIC
transmembrane domain	703	722	N/A	INTRINSIC
transmembrane domain	743	765	N/A	INTRINSIC
transmembrane domain	829	851	N/A	INTRINSIC
transmembrane domain	858	880	N/A	INTRINSIC
transmembrane domain	921	940	N/A	INTRINSIC
low complexity region	955	979	N/A	INTRINSIC
transmembrane domain	992	1014	N/A	INTRINSIC
transmembrane domain	1029	1051	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098109

SMART Domains

Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Phosphodiest	129	304	6.5e-18	PFAM
low complexity region	316	329	N/A	INTRINSIC
low complexity region	331	344	N/A	INTRINSIC
low complexity region	357	368	N/A	INTRINSIC
low complexity region	425	436	N/A	INTRINSIC
transmembrane domain	456	478	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	517	536	N/A	INTRINSIC
low complexity region	547	567	N/A	INTRINSIC
transmembrane domain	677	696	N/A	INTRINSIC
transmembrane domain	711	730	N/A	INTRINSIC
transmembrane domain	751	773	N/A	INTRINSIC
transmembrane domain	837	859	N/A	INTRINSIC
transmembrane domain	866	888	N/A	INTRINSIC
transmembrane domain	953	972	N/A	INTRINSIC
low complexity region	987	1011	N/A	INTRINSIC
transmembrane domain	1024	1046	N/A	INTRINSIC
transmembrane domain	1061	1083	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107956

SMART Domains

Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	479	537	8.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107957

SMART Domains

Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	479	537	8.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107958

SMART Domains

Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	479	537	8.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142781

Predicted Effect

probably benign
Transcript: ENSMUST00000138030

SMART Domains

Protein: ENSMUSP00000118465
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
PHB	42	200	1.47e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135067

SMART Domains

Protein: ENSMUSP00000122882
Gene: ENSMUSG00000036002

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149333

SMART Domains

Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Phosphodiest	123	299	2.7e-18	PFAM
low complexity region	311	324	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
low complexity region	352	363	N/A	INTRINSIC
low complexity region	420	431	N/A	INTRINSIC
low complexity region	450	460	N/A	INTRINSIC
transmembrane domain	531	550	N/A	INTRINSIC
low complexity region	565	589	N/A	INTRINSIC
transmembrane domain	602	624	N/A	INTRINSIC
transmembrane domain	639	661	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135660

SMART Domains

Protein: ENSMUSP00000123478
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
PHB	2	153	4.16e-39	SMART
coiled coil region	189	210	N/A	INTRINSIC
Pfam:Band_7_C	218	280	3.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136326

SMART Domains

Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
PHB	1	148	1.33e-37	SMART
coiled coil region	185	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107959

SMART Domains

Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	480	537	8.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180854

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a floxed allele activated in T cells exhibit normal mitochondria migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Aco1	T	C	4: 40,179,008 (GRCm39)	Y336H	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Asxl2	A	G	12: 3,543,790 (GRCm39)	K320E	probably damaging	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
B4galnt2	A	C	11: 95,760,181 (GRCm39)	I282S	probably benign	Het
Bcl2l13	T	C	6: 120,853,288 (GRCm39)	I191T	probably benign	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cd109	A	T	9: 78,579,832 (GRCm39)		probably null	Het
Cdc34	G	A	10: 79,521,134 (GRCm39)	A128T	probably damaging	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,606,837 (GRCm39)	K529*	probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dlec1	G	A	9: 118,959,085 (GRCm39)	E910K	probably benign	Het
Dnajc19	T	A	3: 34,112,161 (GRCm39)	N128I	probably damaging	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Eea1	G	A	10: 95,830,861 (GRCm39)		probably null	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Extl1	T	C	4: 134,086,552 (GRCm39)	D501G	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Fxr2	A	G	11: 69,539,710 (GRCm39)	H247R	possibly damaging	Het
Gask1a	A	T	9: 121,807,452 (GRCm39)	H532L	probably damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Helz2	T	C	2: 180,879,389 (GRCm39)	D743G	possibly damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Ifitm1	C	T	7: 140,548,263 (GRCm39)	T32M	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lrit2	A	G	14: 36,790,513 (GRCm39)	N64S	probably benign	Het
Lsm14a	A	T	7: 34,052,982 (GRCm39)	D322E	probably damaging	Het
Macf1	T	G	4: 123,327,246 (GRCm39)	R4752S	probably damaging	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mpdz	T	A	4: 81,226,556 (GRCm39)	T1360S	probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Myh3	A	G	11: 66,983,158 (GRCm39)	E895G	probably benign	Het
Ncan	A	C	8: 70,560,819 (GRCm39)	I716R	probably benign	Het
Ncor2	C	T	5: 125,102,510 (GRCm39)	R1867K	probably damaging	Het
Oas1d	C	T	5: 121,052,959 (GRCm39)	L5F	probably damaging	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or11h4b	T	A	14: 50,918,315 (GRCm39)	M259L	probably benign	Het
Or13a17	T	C	7: 140,271,712 (GRCm39)	V298A	probably damaging	Het
Or3a4	A	T	11: 73,945,038 (GRCm39)	C182*	probably null	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde1c	T	C	6: 56,338,752 (GRCm39)	I27V	probably benign	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Piezo2	T	A	18: 63,154,325 (GRCm39)	I2485F	probably damaging	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plscr1	C	T	9: 92,141,357 (GRCm39)	T15I	unknown	Het
Rd3	T	C	1: 191,717,262 (GRCm39)	*106R	probably null	Het
Rnf125	A	G	18: 21,114,288 (GRCm39)	I97V	possibly damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Sf3b3	G	C	8: 111,564,935 (GRCm39)	A291G	probably damaging	Het
Simc1	T	C	13: 54,698,292 (GRCm39)	V403A	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slco1a8	A	G	6: 141,931,344 (GRCm39)	S474P	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Speer4a3	T	A	5: 26,158,107 (GRCm39)	T82S	probably benign	Het
Tet1	C	T	10: 62,650,300 (GRCm39)	R1636H	probably damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Ust	C	A	10: 8,173,954 (GRCm39)	V184F	possibly damaging	Het
Wdr95	G	A	5: 149,511,563 (GRCm39)	C421Y	probably damaging	Het

Other mutations in Stoml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02199:Stoml2	APN	4	43,029,366 (GRCm39)	unclassified	probably benign
IGL02498:Stoml2	APN	4	43,031,045 (GRCm39)	missense	probably benign	0.01
IGL03185:Stoml2	APN	4	43,029,065 (GRCm39)	missense	probably benign	0.13
R0329:Stoml2	UTSW	4	43,030,238 (GRCm39)	critical splice donor site	probably null
R0330:Stoml2	UTSW	4	43,030,238 (GRCm39)	critical splice donor site	probably null
R2202:Stoml2	UTSW	4	43,030,243 (GRCm39)	nonsense	probably null
R2203:Stoml2	UTSW	4	43,030,243 (GRCm39)	nonsense	probably null
R2204:Stoml2	UTSW	4	43,030,243 (GRCm39)	nonsense	probably null
R2205:Stoml2	UTSW	4	43,030,243 (GRCm39)	nonsense	probably null
R4804:Stoml2	UTSW	4	43,029,882 (GRCm39)	missense	probably benign	0.01
R4952:Stoml2	UTSW	4	43,029,589 (GRCm39)	missense	probably benign	0.02
R5837:Stoml2	UTSW	4	43,028,989 (GRCm39)	missense	probably damaging	1.00
R5845:Stoml2	UTSW	4	43,030,008 (GRCm39)	unclassified	probably benign
R5882:Stoml2	UTSW	4	43,031,003 (GRCm39)	missense	probably damaging	1.00
R8867:Stoml2	UTSW	4	43,028,256 (GRCm39)	missense	probably benign
R9444:Stoml2	UTSW	4	43,030,442 (GRCm39)	missense	probably damaging	1.00
R9582:Stoml2	UTSW	4	43,030,238 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTGACGACAGGATGACTTCACTTCAC -3'
(R):5'- ACAAAGCTTCAAATGGTTCTTAACGGC -3'

Sequencing Primer
(F):5'- GAAGTGAATCCTTGTCACGC -3'
(R):5'- AAATGGTTCTTAACGGCTCTTTC -3'

Posted On

2014-05-23