Mutagenetix > Incidental Mutation

Incidental Mutation 'R4804:Stoml2'

370527

Institutional Source

Beutler Lab

Gene Symbol

Stoml2

Ensembl Gene

ENSMUSG00000028455

Gene Name

stomatin (Epb7.2)-like 2

Synonyms

SLP-2, 0610038F01Rik

MMRRC Submission

041998-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R4804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43027690-43031402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43029882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 162 (N162S)

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 benign
Transcript: ENSMUST00000030169
AA Change: N156S

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

SMART Domains

Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455
AA Change: N156S

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: ENSMUST00000143371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142781

Predicted Effect

probably benign
Transcript: ENSMUST00000138030
AA Change: N162S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000118465
Gene: ENSMUSG00000028455
AA Change: N162S

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: ENSMUST00000136326
AA Change: N110S

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

SMART Domains

Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455
AA Change: N110S

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

Predicted Effect

unknown
Transcript: ENSMUST00000135660
AA Change: N114S

SMART Domains

Protein: ENSMUSP00000123478
Gene: ENSMUSG00000028455
AA Change: N114S

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

noncoding transcript
Transcript: ENSMUST00000153203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123465

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

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

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

noncoding transcript
Transcript: ENSMUST00000180854

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (78/79)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	T	C	1: 178,103,675 (GRCm39)		noncoding transcript	Het
Ap4e1	T	C	2: 126,885,678 (GRCm39)		probably null	Het
Apbb1ip	T	C	2: 22,713,610 (GRCm39)		probably null	Het
Apol11b	T	A	15: 77,519,466 (GRCm39)	I205F	probably damaging	Het
Arl6ip1	A	T	7: 117,728,775 (GRCm39)		probably null	Het
Barx2	A	G	9: 31,758,108 (GRCm39)	S277P	unknown	Het
BC035947	T	G	1: 78,474,513 (GRCm39)	D673A	probably damaging	Het
Cacna2d1	A	T	5: 16,564,206 (GRCm39)	I930F	probably damaging	Het
Cd226	T	C	18: 89,225,292 (GRCm39)	V63A	possibly damaging	Het
Cdk8	A	G	5: 146,233,209 (GRCm39)	K236E	probably damaging	Het
Cds1	T	C	5: 101,969,389 (GRCm39)	L449P	probably damaging	Het
Celsr1	T	C	15: 85,822,154 (GRCm39)	D1721G	possibly damaging	Het
Chtf18	T	C	17: 25,938,231 (GRCm39)	D934G	probably benign	Het
Clk4	T	A	11: 51,172,150 (GRCm39)	L271Q	probably damaging	Het
Cnnm1	C	A	19: 43,480,014 (GRCm39)	T853N	probably benign	Het
Col26a1	A	G	5: 136,865,579 (GRCm39)	V103A	probably damaging	Het
D5Ertd579e	C	T	5: 36,786,996 (GRCm39)		probably null	Het
Ddx39a	A	G	8: 84,447,724 (GRCm39)	K190E	probably damaging	Het
Dgkg	G	A	16: 22,393,943 (GRCm39)		probably benign	Het
Dnajc14	A	T	10: 128,649,926 (GRCm39)	H477L	probably benign	Het
Dytn	A	G	1: 63,682,525 (GRCm39)	V374A	probably benign	Het
Gfra2	T	C	14: 71,163,361 (GRCm39)	Y215H	possibly damaging	Het
Grik1	A	G	16: 87,754,457 (GRCm39)	I376T	probably damaging	Het
Gzmm	A	T	10: 79,530,890 (GRCm39)	T231S	probably benign	Het
Hecw1	A	G	13: 14,480,570 (GRCm39)	S499P	probably benign	Het
Hhla1	T	C	15: 65,794,948 (GRCm39)	I511V	probably benign	Het
Ifnlr1	A	G	4: 135,432,647 (GRCm39)	D361G	possibly damaging	Het
Ikzf3	A	G	11: 98,381,400 (GRCm39)	V60A	probably benign	Het
Ipo4	G	C	14: 55,868,313 (GRCm39)	R495G	possibly damaging	Het
Kat2b-ps	A	T	5: 93,540,392 (GRCm39)		noncoding transcript	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Mblac2	T	A	13: 81,898,428 (GRCm39)	L268*	probably null	Het
Mipep	C	T	14: 61,040,401 (GRCm39)	T307I	probably damaging	Het
Ms4a14	A	G	19: 11,281,404 (GRCm39)	S385P	possibly damaging	Het
Myh2	T	A	11: 67,077,328 (GRCm39)	I821N	possibly damaging	Het
Myo5c	A	T	9: 75,152,306 (GRCm39)	I65F	probably damaging	Het
Neurog1	A	G	13: 56,399,579 (GRCm39)	L56P	probably benign	Het
Nrsn1	C	A	13: 25,437,580 (GRCm39)	C116F	probably benign	Het
Nscme3l	A	T	19: 5,553,028 (GRCm39)	M251K	possibly damaging	Het
Nynrin	T	C	14: 56,102,326 (GRCm39)	V665A	probably benign	Het
Or10w1	A	G	19: 13,631,882 (GRCm39)	M30V	probably benign	Het
Or2w1b	T	A	13: 21,300,175 (GRCm39)	Y104*	probably null	Het
Or5ak20	T	C	2: 85,183,425 (GRCm39)	I282V	probably benign	Het
Pakap	T	C	4: 57,854,688 (GRCm39)	S67P	probably benign	Het
Pcdhac1	C	T	18: 37,224,231 (GRCm39)	S348L	possibly damaging	Het
Pcnx4	T	C	12: 72,620,976 (GRCm39)	I932T	probably benign	Het
Pfkl	G	A	10: 77,827,228 (GRCm39)	T486I	probably benign	Het
Pi4ka	A	T	16: 17,126,025 (GRCm39)	M1115K	possibly damaging	Het
Rilpl1	A	G	5: 124,631,828 (GRCm39)	W173R	probably damaging	Het
Rnf111	A	T	9: 70,338,239 (GRCm39)	C900S	possibly damaging	Het
Ryr2	A	G	13: 11,731,983 (GRCm39)	V2319A	probably damaging	Het
Scnn1g	AATCCTGCAGGTGA	AA	7: 121,362,303 (GRCm39)		probably null	Het
Slc25a13	A	T	6: 6,109,213 (GRCm39)	L383H	probably damaging	Het
Slco2a1	C	T	9: 102,950,383 (GRCm39)	P325L	probably damaging	Het
Syne1	G	T	10: 5,299,310 (GRCm39)	Q982K	possibly damaging	Het
Tbc1d31	C	T	15: 57,814,502 (GRCm39)	Q568*	probably null	Het
Tbc1d9	G	A	8: 83,982,554 (GRCm39)		probably null	Het
Tbx3	A	G	5: 119,818,577 (GRCm39)	D384G	possibly damaging	Het
Tecta	T	C	9: 42,309,533 (GRCm39)	I14V	probably benign	Het
Tgm1	A	T	14: 55,943,076 (GRCm39)	V588E	probably benign	Het
Tpk1	A	C	6: 43,570,012 (GRCm39)		probably benign	Het
Tspear	A	T	10: 77,612,791 (GRCm39)		probably null	Het
Ubxn10	G	T	4: 138,448,515 (GRCm39)	Q54K	possibly damaging	Het
Ubxn4	C	T	1: 128,194,141 (GRCm39)	R312*	probably null	Het
Vmn1r230	A	T	17: 21,067,345 (GRCm39)	K178M	probably damaging	Het
Zfp143	G	A	7: 109,687,976 (GRCm39)	V445I	probably damaging	Het
Zfp688	C	A	7: 127,021,057 (GRCm39)	W40C	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
R2204:Stoml2	UTSW	4	43,030,243 (GRCm39)	nonsense	probably null
R2205:Stoml2	UTSW	4	43,030,243 (GRCm39)	nonsense	probably null
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'- CCCACAATAGGGGATTCTAGTCC -3'
(R):5'- ACCCAGTTAGCTCAGACGAC -3'

Sequencing Primer
(F):5'- GGATTCTAGTCCCAGTGGAAC -3'
(R):5'- TGAGATCAGAGCTTGGCAAACTCTC -3'

Posted On

2016-02-04