Mutagenetix > Incidental Mutation

Incidental Mutation 'R1848:Slmap'

207945

Institutional Source

Beutler Lab

Gene Symbol

Slmap

Ensembl Gene

ENSMUSG00000021870

Gene Name

sarcolemma associated protein

Synonyms

D330001L02Rik, Slap

MMRRC Submission

039873-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26413168-26534931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26422574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 719 (F719L)

Ref Sequence

ENSEMBL: ENSMUSP00000117816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038522] [ENSMUST00000090359] [ENSMUST00000102956] [ENSMUST00000112330] [ENSMUST00000112331] [ENSMUST00000139075]

AlphaFold

Q3URD3

Predicted Effect

probably benign
Transcript: ENSMUST00000038522
AA Change: F698L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: F698L

Domain	Start	End	E-Value	Type
FHA	27	85	1.05e-8	SMART
coiled coil region	167	199	N/A	INTRINSIC
coiled coil region	230	390	N/A	INTRINSIC
coiled coil region	486	568	N/A	INTRINSIC
coiled coil region	595	794	N/A	INTRINSIC
transmembrane domain	796	818	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090359
AA Change: F702L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: F702L

Domain	Start	End	E-Value	Type
FHA	27	85	1.05e-8	SMART
coiled coil region	167	199	N/A	INTRINSIC
coiled coil region	230	390	N/A	INTRINSIC
coiled coil region	490	572	N/A	INTRINSIC
coiled coil region	599	799	N/A	INTRINSIC
transmembrane domain	801	823	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102956
AA Change: F698L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: F698L

Domain	Start	End	E-Value	Type
FHA	27	85	1.05e-8	SMART
coiled coil region	167	199	N/A	INTRINSIC
coiled coil region	230	390	N/A	INTRINSIC
coiled coil region	486	568	N/A	INTRINSIC
coiled coil region	595	794	N/A	INTRINSIC
transmembrane domain	796	818	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112330
AA Change: F664L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: F664L

Domain	Start	End	E-Value	Type
FHA	27	85	1.05e-8	SMART
coiled coil region	167	199	N/A	INTRINSIC
coiled coil region	230	383	N/A	INTRINSIC
coiled coil region	452	534	N/A	INTRINSIC
coiled coil region	561	761	N/A	INTRINSIC
transmembrane domain	763	785	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112331
AA Change: F564L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: F564L

Domain	Start	End	E-Value	Type
coiled coil region	46	78	N/A	INTRINSIC
coiled coil region	109	260	N/A	INTRINSIC
coiled coil region	352	434	N/A	INTRINSIC
coiled coil region	461	661	N/A	INTRINSIC
transmembrane domain	663	685	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125437

SMART Domains

Protein: ENSMUSP00000123199
Gene: ENSMUSG00000021870

Domain	Start	End	E-Value	Type
coiled coil region	71	133	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136635

SMART Domains

Protein: ENSMUSP00000114601
Gene: ENSMUSG00000021870

Domain	Start	End	E-Value	Type
coiled coil region	57	112	N/A	INTRINSIC
coiled coil region	139	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139075
AA Change: F719L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: F719L

Domain	Start	End	E-Value	Type
FHA	27	85	1.05e-8	SMART
coiled coil region	167	199	N/A	INTRINSIC
coiled coil region	230	390	N/A	INTRINSIC
coiled coil region	507	589	N/A	INTRINSIC
coiled coil region	616	816	N/A	INTRINSIC
transmembrane domain	818	840	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000142679
AA Change: F309L

SMART Domains

Protein: ENSMUSP00000123072
Gene: ENSMUSG00000021870
AA Change: F309L

Domain	Start	End	E-Value	Type
coiled coil region	1	52	N/A	INTRINSIC
coiled coil region	97	179	N/A	INTRINSIC
coiled coil region	206	405	N/A	INTRINSIC
transmembrane domain	408	430	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000145738
AA Change: F350L

SMART Domains

Protein: ENSMUSP00000117276
Gene: ENSMUSG00000021870
AA Change: F350L

Domain	Start	End	E-Value	Type
coiled coil region	1	59	N/A	INTRINSIC
coiled coil region	138	220	N/A	INTRINSIC
coiled coil region	247	447	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

98% (120/123)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous inactivation in this locus affects T cell development. Mice homozygous for a transposon induced allele exhibit cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 87,568,493	Y86*	probably null	Het
Aadac	A	G	3: 60,039,697	E272G	probably damaging	Het
Abcc8	A	T	7: 46,166,902	D271E	probably benign	Het
Acan	T	C	7: 79,099,035	F1185L	probably benign	Het
Adam1a	A	T	5: 121,519,620	C537S	probably damaging	Het
Ago2	A	G	15: 73,123,965	V395A	probably benign	Het
Alox15	A	G	11: 70,350,752	V101A	probably damaging	Het
Ankra2	T	C	13: 98,271,124	I194T	probably damaging	Het
Apobec4	C	A	1: 152,756,230	P3H	probably damaging	Het
Arid3b	G	T	9: 57,796,677	Y329*	probably null	Het
Atm	A	T	9: 53,468,012	S1993T	probably benign	Het
Bpgm	T	G	6: 34,487,734	S129A	probably benign	Het
Brat1	A	G	5: 140,718,509	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,342,570	S128T	probably benign	Het
Cd300lg	A	T	11: 102,046,206		probably benign	Het
Cdc34b	C	A	11: 94,742,477	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,401,310	V1767E	probably benign	Het
Cep350	T	C	1: 155,953,651	D169G	probably benign	Het
Col7a1	A	T	9: 108,969,565	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,630,434	L724P	probably damaging	Het
Crb1	T	A	1: 139,237,012	I1125F	probably damaging	Het
Ctif	T	A	18: 75,519,941	D415V	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dhrs2	A	G	14: 55,240,841	D237G	probably benign	Het
Dhx9	T	C	1: 153,465,753	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,219,713	R443Q	probably damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Dpf2	C	A	19: 5,906,615	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,066,107	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166	T3245S	probably benign	Het
Ect2l	A	G	10: 18,200,033	L35P	probably damaging	Het
Efcab5	A	T	11: 77,103,306	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,681,867	R697P	probably damaging	Het
Emsy	T	A	7: 98,600,821	E753V	probably damaging	Het
Entpd3	A	G	9: 120,558,419	I227M	probably damaging	Het
Epn1	T	A	7: 5,089,998	V103E	probably damaging	Het
Esrra	T	C	19: 6,912,010	D337G	probably benign	Het
Fam129c	T	C	8: 71,603,769	M371T	possibly damaging	Het
Fam83e	A	T	7: 45,728,769	K406*	probably null	Het
Fam83e	A	T	7: 45,728,770	K406M	possibly damaging	Het
Fat2	A	G	11: 55,311,558	I230T	probably damaging	Het
Fbxl16	A	G	17: 25,816,446	I6V	probably benign	Het
Fgf23	T	C	6: 127,073,193	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,821,549	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823	E449G	probably benign	Het
Gbf1	T	G	19: 46,272,037	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,341,265	E157G	probably damaging	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm6625	A	C	8: 89,146,834		noncoding transcript	Het
Gpx4	A	G	10: 80,056,036		probably benign	Het
Grb10	A	G	11: 11,946,029	F264L	possibly damaging	Het
Grik3	T	C	4: 125,694,138	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,036,795		probably benign	Het
Haus8	G	A	8: 71,256,123		probably benign	Het
Hip1	G	A	5: 135,435,141		probably null	Het
Hist3h2ba	A	T	11: 58,949,102	I55F	possibly damaging	Het
Hspbap1	T	A	16: 35,818,764		probably null	Het
Htr2b	T	A	1: 86,099,429	I452F	possibly damaging	Het
Hydin	T	A	8: 110,569,808	H3656Q	probably benign	Het
Klb	T	A	5: 65,348,837	D142E	probably benign	Het
Lamb3	A	T	1: 193,334,616	T777S	possibly damaging	Het
Lins1	C	A	7: 66,714,322	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,281,971	K5R	possibly damaging	Het
Lpp	G	A	16: 24,761,655	M40I	probably damaging	Het
Mia2	A	T	12: 59,170,251		probably benign	Het
Miip	A	C	4: 147,863,092	F204V	probably damaging	Het
Mmp21	T	C	7: 133,677,153	R323G	probably benign	Het
Mta3	T	A	17: 83,755,551		probably benign	Het
Myh1	A	G	11: 67,213,630	K1004R	probably benign	Het
Myh14	T	A	7: 44,632,429	I810F	probably damaging	Het
Nbas	A	C	12: 13,413,597	D1295A	probably damaging	Het
Npr2	T	G	4: 43,632,384	V67G	probably benign	Het
Oas1f	C	A	5: 120,855,429	Q235K	probably damaging	Het
Olfr109	T	A	17: 37,467,047	S280R	probably damaging	Het
Olfr59	G	T	11: 74,289,213	C189F	probably damaging	Het
Olfr60	T	A	7: 140,345,987	M1L	probably benign	Het
Olfr629	T	C	7: 103,741,174	N22S	probably benign	Het
Olfr857	C	T	9: 19,713,090	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Pde1b	A	G	15: 103,525,340		probably null	Het
Pdilt	T	C	7: 119,489,384	T465A	probably benign	Het
Plxnd1	T	C	6: 115,966,546	H1233R	probably damaging	Het
Ppm1b	T	A	17: 84,994,124	M144K	probably benign	Het
Prkdc	T	C	16: 15,808,058	L3316S	probably benign	Het
Prm2	T	A	16: 10,791,591		probably benign	Het
Prmt7	T	C	8: 106,237,008	V240A	probably benign	Het
Prx	C	A	7: 27,518,888	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,490,894	V131A	probably benign	Het
Ric1	T	A	19: 29,600,813		probably null	Het
Rnf150	A	T	8: 82,864,010	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628	R298W	probably damaging	Het
Rp1	T	A	1: 4,347,232	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,684,013		probably null	Het
Sdad1	A	G	5: 92,292,651		probably null	Het
Sept9	T	C	11: 117,353,083		probably benign	Het
Serinc3	T	C	2: 163,645,489		probably benign	Het
Shc3	C	T	13: 51,461,388	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,316,606	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,923,111	I376V	probably benign	Het
Smgc	A	G	15: 91,859,758	N573D	possibly damaging	Het
Spx	G	A	6: 142,414,079		probably null	Het
Srrt	C	G	5: 137,296,945	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,630,597	R78S	probably benign	Het
Tchhl1	A	G	3: 93,471,101	R371G	probably damaging	Het
Teddm2	C	T	1: 153,850,448	A174T	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Trim33	T	C	3: 103,324,640		probably benign	Het
Tspan31	A	G	10: 127,069,458	V40A	probably damaging	Het
Uevld	A	G	7: 46,945,227		probably benign	Het
Vcl	G	T	14: 21,008,995	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,816,224	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,428,107	V212M	probably damaging	Het
Vps13c	A	G	9: 67,936,340	T1968A	probably benign	Het
Vtn	A	G	11: 78,500,567	R269G	probably damaging	Het
Wdcp	G	A	12: 4,850,245	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,752,832	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266	P123L	probably benign	Het
Zfp318	T	C	17: 46,406,055	S1038P	possibly damaging	Het
Zfp873	A	G	10: 82,060,572	D416G	probably benign	Het

Other mutations in Slmap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02402:Slmap	APN	14	26463710	missense	probably damaging	0.97
IGL02612:Slmap	APN	14	26459466	splice site	probably benign
IGL02630:Slmap	APN	14	26422431	missense	possibly damaging	0.93
IGL02798:Slmap	APN	14	26470378	missense	possibly damaging	0.88
PIT4382001:Slmap	UTSW	14	26533431	missense	probably damaging	1.00
R0433:Slmap	UTSW	14	26453594	nonsense	probably null
R0963:Slmap	UTSW	14	26468520	missense	probably damaging	1.00
R1721:Slmap	UTSW	14	26460218	splice site	probably benign
R2151:Slmap	UTSW	14	26418247	missense	probably damaging	1.00
R2152:Slmap	UTSW	14	26418247	missense	probably damaging	1.00
R2153:Slmap	UTSW	14	26418247	missense	probably damaging	1.00
R2154:Slmap	UTSW	14	26418247	missense	probably damaging	1.00
R3725:Slmap	UTSW	14	26427242	missense	probably damaging	0.99
R3726:Slmap	UTSW	14	26427242	missense	probably damaging	0.99
R3935:Slmap	UTSW	14	26459415	missense	probably benign
R4118:Slmap	UTSW	14	26482872	missense	probably damaging	0.99
R4594:Slmap	UTSW	14	26465617	missense	probably damaging	1.00
R4731:Slmap	UTSW	14	26468535	missense	probably damaging	0.97
R4732:Slmap	UTSW	14	26468535	missense	probably damaging	0.97
R4733:Slmap	UTSW	14	26468535	missense	probably damaging	0.97
R4817:Slmap	UTSW	14	26462352	missense	probably damaging	0.97
R4847:Slmap	UTSW	14	26426608	missense	possibly damaging	0.90
R4860:Slmap	UTSW	14	26460209	missense	probably benign	0.22
R4860:Slmap	UTSW	14	26460209	missense	probably benign	0.22
R5092:Slmap	UTSW	14	26463589	missense	probably damaging	1.00
R5211:Slmap	UTSW	14	26482962	missense	probably damaging	1.00
R5387:Slmap	UTSW	14	26459933	missense	probably benign	0.22
R5821:Slmap	UTSW	14	26462280	missense	probably damaging	1.00
R6404:Slmap	UTSW	14	26422411	splice site	probably null
R6856:Slmap	UTSW	14	26430092	splice site	probably null
R6977:Slmap	UTSW	14	26533419	missense	probably damaging	1.00
R7108:Slmap	UTSW	14	26422521	missense	probably benign	0.04
R7320:Slmap	UTSW	14	26460072	missense	possibly damaging	0.53
R7470:Slmap	UTSW	14	26427420	missense	probably benign
R7520:Slmap	UTSW	14	26427420	missense	probably benign
R7540:Slmap	UTSW	14	26460191	missense	probably damaging	0.99
R7544:Slmap	UTSW	14	26429846	missense	probably damaging	0.99
R7544:Slmap	UTSW	14	26429848	missense	probably damaging	0.99
R8112:Slmap	UTSW	14	26422548	missense	probably damaging	1.00
R8153:Slmap	UTSW	14	26533333	missense	probably benign
R8196:Slmap	UTSW	14	26468491	missense	probably damaging	1.00
R8300:Slmap	UTSW	14	26418219	missense	possibly damaging	0.62
R8523:Slmap	UTSW	14	26429810	missense	probably damaging	0.99
R9039:Slmap	UTSW	14	26533364	missense	probably benign	0.08
R9094:Slmap	UTSW	14	26416200	intron	probably benign
R9504:Slmap	UTSW	14	26414978	missense	probably damaging	1.00
R9657:Slmap	UTSW	14	26429858	missense	probably benign	0.19
R9695:Slmap	UTSW	14	26462341	missense	probably damaging	0.97
R9763:Slmap	UTSW	14	26482963	missense	probably damaging	1.00
R9801:Slmap	UTSW	14	26422440	missense	probably damaging	1.00
Z1177:Slmap	UTSW	14	26533450	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATGGATGTCTGATTTGCC -3'
(R):5'- GGGATACAGCTTCAAACTTAAAGG -3'

Sequencing Primer
(F):5'- AACTGGACTCAGAATGTCTTTCCG -3'
(R):5'- CTGCTGTGAAACCCACT -3'

Posted On

2014-06-23