Mutagenetix > Incidental Mutation

Incidental Mutation 'R9582:Stoml2'

722590

Institutional Source

Beutler Lab

Gene Symbol

Stoml2

Ensembl Gene

ENSMUSG00000028455

Gene Name

stomatin (Epb7.2)-like 2

Synonyms

SLP-2, 0610038F01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R9582 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43027690-43031402 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 43030238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030169 (fasta)

Gene Model

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

AlphaFold

Q99JB2

Predicted Effect

probably null
Transcript: ENSMUST00000030169

SMART Domains

Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455

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 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: 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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,766 (GRCm39)	F652I	probably damaging	Het
Adam17	A	T	12: 21,386,665 (GRCm39)	I457K	probably benign	Het
Arpin	T	C	7: 79,585,038 (GRCm39)		probably benign	Het
Bhlhe40	A	G	6: 108,638,467 (GRCm39)	E51G	probably benign	Het
Ces1a	C	T	8: 93,766,156 (GRCm39)	D153N	probably benign	Het
Cog7	T	C	7: 121,536,200 (GRCm39)	M547V	probably benign	Het
Csrnp2	C	T	15: 100,386,067 (GRCm39)	R57K	possibly damaging	Het
Dact1	A	T	12: 71,365,619 (GRCm39)	K763M	probably damaging	Het
Ddost	A	T	4: 138,035,583 (GRCm39)	I101F	possibly damaging	Het
Dyrk1b	C	T	7: 27,882,028 (GRCm39)	R130W	probably damaging	Het
Ep400	A	C	5: 110,824,315 (GRCm39)		probably null	Het
Fam227a	A	G	15: 79,501,978 (GRCm39)	V532A	probably benign	Het
Flnc	C	A	6: 29,460,736 (GRCm39)	T2609K	probably damaging	Het
Gbp10	A	G	5: 105,372,256 (GRCm39)	V168A	probably benign	Het
Gp5	A	G	16: 30,127,057 (GRCm39)	V539A	probably benign	Het
H2-T13	T	A	17: 36,392,375 (GRCm39)	R33S	unknown	Het
Itih5	A	G	2: 10,195,013 (GRCm39)	E135G	probably benign	Het
L2hgdh	A	G	12: 69,739,172 (GRCm39)	V433A	probably benign	Het
Leng9	A	G	7: 4,152,263 (GRCm39)	S138P	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ly6g6e	T	C	17: 35,296,159 (GRCm39)	V10A	probably benign	Het
Lypla1	C	T	1: 4,911,248 (GRCm39)	P178S	probably benign	Het
Mark1	A	G	1: 184,651,858 (GRCm39)	F216L	possibly damaging	Het
Mertk	G	A	2: 128,624,527 (GRCm39)	R646Q	possibly damaging	Het
Mmp9	A	C	2: 164,791,235 (GRCm39)	D135A	probably benign	Het
Nefl	A	G	14: 68,324,849 (GRCm39)	K529E	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nwd1	A	G	8: 73,421,917 (GRCm39)	T988A	probably damaging	Het
P4ha2	T	A	11: 54,022,065 (GRCm39)	C529*	probably null	Het
Pcdhb4	T	A	18: 37,441,417 (GRCm39)	F242L	probably damaging	Het
Pced1b	A	G	15: 97,282,450 (GRCm39)	N163S	probably damaging	Het
Pde8b	A	G	13: 95,169,369 (GRCm39)	V585A	probably damaging	Het
Pknox2	T	A	9: 36,804,252 (GRCm39)	T432S	probably damaging	Het
Rad18	A	G	6: 112,658,298 (GRCm39)		probably null	Het
Rpgrip1l	C	T	8: 91,996,886 (GRCm39)	V665I	probably benign	Het
Rreb1	A	G	13: 38,114,734 (GRCm39)	I698V	probably benign	Het
Schip1	TCTGGCC	TC	3: 68,525,060 (GRCm39)		probably null	Het
Slc2a4	C	T	11: 69,837,450 (GRCm39)	V32M	probably damaging	Het
Slc40a1	A	G	1: 45,950,499 (GRCm39)	Y318H	probably damaging	Het
Spag16	A	G	1: 69,897,717 (GRCm39)	T156A	probably benign	Het
Srebf1	C	A	11: 60,097,868 (GRCm39)	A103S	probably benign	Het
Sspn	C	T	6: 145,899,334 (GRCm39)		probably benign	Het
Stra6	T	A	9: 58,054,770 (GRCm39)	V319E	probably damaging	Het
Syt7	T	C	19: 10,416,780 (GRCm39)	F414L	probably damaging	Het
Tet3	G	T	6: 83,381,226 (GRCm39)	P314Q	probably damaging	Het
Tnrc18	A	T	5: 142,757,128 (GRCm39)	L1313Q		Het
Topors	A	T	4: 40,260,460 (GRCm39)	D941E	unknown	Het
Txnip	T	A	3: 96,465,659 (GRCm39)	C36*	probably null	Het
Uba3	A	T	6: 97,168,491 (GRCm39)	M178K	probably damaging	Het
Vmn1r6	A	G	6: 56,979,925 (GRCm39)	T196A	probably benign	Het
Vwc2	T	A	11: 11,066,129 (GRCm39)	S72R	probably benign	Het
Wnk2	A	G	13: 49,210,975 (GRCm39)	S1627P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTAAGCCCTTACTCCAGCCCAG -3'
(R):5'- ACAGGGATGTGCTAAGTGCG -3'

Sequencing Primer
(F):5'- AACTTTGTCCAGAGAGAGTTTGCC -3'
(R):5'- CGCTAGGATGTGGTTGCTATAGATCC -3'

Posted On

2022-08-09