Mutagenetix > Incidental Mutation

Incidental Mutation 'R2204:Stoml2'

238894

Institutional Source

Beutler Lab

Gene Symbol

Stoml2

Ensembl Gene

ENSMUSG00000028455

Gene Name

stomatin (Epb7.2)-like 2

Synonyms

SLP-2, 0610038F01Rik

MMRRC Submission

040206-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

R2204 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43027690-43031402 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 43030243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 119 (Y119*)

Ref Sequence

ENSEMBL: ENSMUSP00000118465 (fasta)

Gene Model

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

AlphaFold

Q99JB2

Predicted Effect

probably null
Transcript: ENSMUST00000030169
AA Change: Y113*

SMART Domains

Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455
AA Change: Y113*

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

probably null
Transcript: ENSMUST00000138030
AA Change: Y119*

SMART Domains

Protein: ENSMUSP00000118465
Gene: ENSMUSG00000028455
AA Change: Y119*

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

Predicted Effect

probably null
Transcript: ENSMUST00000135660
AA Change: Y71*

SMART Domains

Protein: ENSMUSP00000123478
Gene: ENSMUSG00000028455
AA Change: Y71*

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 null
Transcript: ENSMUST00000136326
AA Change: Y67*

SMART Domains

Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455
AA Change: Y67*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142781

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630076J17Rik	A	G	3: 107,140,943 (GRCm39)		probably benign	Het
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Acsf3	C	T	8: 123,540,383 (GRCm39)	S527F	probably damaging	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ankrd2	C	A	19: 42,032,558 (GRCm39)	A273E	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,694,737 (GRCm39)	Q138P	probably benign	Het
Bap1	T	C	14: 30,978,658 (GRCm39)	V23A	probably benign	Het
Cartpt	A	T	13: 100,037,133 (GRCm39)	S4T	probably benign	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Ceacam11	C	T	7: 17,709,273 (GRCm39)	T157I	possibly damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Chrnb4	G	A	9: 54,951,132 (GRCm39)	R44C	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Espl1	A	G	15: 102,214,340 (GRCm39)	E693G	probably damaging	Het
Fat1	G	T	8: 45,476,737 (GRCm39)	A1928S	probably damaging	Het
Fiz1	C	T	7: 5,011,685 (GRCm39)	E278K	probably benign	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Hlcs	T	C	16: 94,032,011 (GRCm39)	T451A	probably benign	Het
Hmgcr	A	G	13: 96,793,141 (GRCm39)	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,741 (GRCm39)	E239K	probably benign	Het
Ift52	G	A	2: 162,873,150 (GRCm39)	S221N	probably benign	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Map3k14	T	A	11: 103,130,280 (GRCm39)	K212N	possibly damaging	Het
Ndufb7	A	G	8: 84,297,528 (GRCm39)	H61R	probably damaging	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or10j2	T	A	1: 173,097,703 (GRCm39)		probably null	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Or7d11	T	C	9: 19,966,507 (GRCm39)	N84S	possibly damaging	Het
P3h4	G	A	11: 100,304,832 (GRCm39)	A185V	probably benign	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Pramel32	A	T	4: 88,546,355 (GRCm39)	L329Q	probably damaging	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sars2	T	C	7: 28,449,099 (GRCm39)	V302A	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Speg	A	T	1: 75,407,121 (GRCm39)	T3137S	probably benign	Het
Ssh3	A	G	19: 4,319,101 (GRCm39)	L3P	probably damaging	Het
Stard9	GAAA	GAA	2: 120,529,012 (GRCm39)		probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Taco1	C	T	11: 105,962,760 (GRCm39)	A149V	probably benign	Het
Tenm3	T	C	8: 49,127,585 (GRCm39)	E31G	probably benign	Het
Tmc1	A	T	19: 20,918,269 (GRCm39)	L2M	probably benign	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Trabd2b	T	C	4: 114,460,191 (GRCm39)	L443P	probably damaging	Het
Trip4	T	A	9: 65,771,547 (GRCm39)	I328F	probably damaging	Het
Trpc3	A	G	3: 36,704,298 (GRCm39)	F553S	possibly damaging	Het
Tssk2	A	G	16: 17,716,603 (GRCm39)	D2G	possibly damaging	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfyve27	C	A	19: 42,171,885 (GRCm39)	A139D	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
R1344:Stoml2	UTSW	4	43,028,197 (GRCm39)	missense	probably benign	0.00
R2202:Stoml2	UTSW	4	43,030,243 (GRCm39)	nonsense	probably null
R2203: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'- AGAGTTTGCCAAGCTCTGATC -3'
(R):5'- TTGTTATCAACGTGCCTGAGC -3'

Sequencing Primer
(F):5'- GATCTCATAGTCGTCTGAGCTAACTG -3'
(R):5'- CAGTCAGCCGTAACTCTTGGTG -3'

Posted On

2014-10-02