Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Slmap'

568164

Institutional Source

Beutler Lab

Gene Symbol

Slmap

Ensembl Gene

ENSMUSG00000021870

Gene Name

sarcolemma associated protein

Synonyms

D330001L02Rik, Slap

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26413168-26534931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26460072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 369 (F369L)

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: F369L

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: F369L

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

possibly damaging
Transcript: ENSMUST00000090359
AA Change: F369L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: F369L

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: F369L

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: F369L

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

possibly damaging
Transcript: ENSMUST00000112330
AA Change: F369L

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: F369L

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

possibly damaging
Transcript: ENSMUST00000112331
AA Change: F248L

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: F248L

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

possibly damaging
Transcript: ENSMUST00000139075
AA Change: F369L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: F369L

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

SMART Domains

Protein: ENSMUSP00000123072
Gene: ENSMUSG00000021870
AA Change: F34L

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

SMART Domains

Protein: ENSMUSP00000117276
Gene: ENSMUSG00000021870
AA Change: F38L

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870
AA Change: F132L

Domain	Start	End	E-Value	Type
coiled coil region	17	142	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,464,303	K650*	probably null	Het
Abcc3	A	G	11: 94,367,645	I458T	probably benign	Het
Adam29	A	G	8: 55,872,714	I235T	possibly damaging	Het
AF529169	A	G	9: 89,601,626	S573P	probably benign	Het
Afap1	G	A	5: 35,948,223	V174I	probably damaging	Het
Ak8	A	T	2: 28,812,992	D456V	probably damaging	Het
Alb	T	C	5: 90,464,987		probably null	Het
Alox12	C	T	11: 70,254,472	A92T	probably benign	Het
Arhgap23	T	C	11: 97,451,545	S218P	probably benign	Het
Blm	G	A	7: 80,455,354	Q1389*	probably null	Het
C1ql4	A	T	15: 99,087,724	V2E	unknown	Het
Casp12	A	G	9: 5,348,897		probably null	Het
Ccdc73	A	T	2: 104,999,176	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 90,224,034	G371D	probably damaging	Het
Cfap65	A	G	1: 74,926,604	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,013	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,291,828	H311Q	probably benign	Het
Cldn13	T	G	5: 134,915,020	I104L	probably benign	Het
Cul9	A	G	17: 46,510,909	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,531,904	D407E	probably damaging	Het
Ddx28	G	A	8: 106,011,325	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,470	N973Y	probably null	Het
Dock10	A	G	1: 80,549,704		probably null	Het
Dock3	T	C	9: 106,895,524	D510G	probably benign	Het
Dst	T	A	1: 34,191,094	D2589E	probably benign	Het
E2f7	T	C	10: 110,764,130	Y249H	not run	Het
Eef2kmt	T	C	16: 5,250,509	Y69C	possibly damaging	Het
Erlin1	T	C	19: 44,059,065	Y139C	probably damaging	Het
Exog	G	T	9: 119,462,478	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,722,472	V98M	probably benign	Het
Fras1	C	T	5: 96,709,886	T2013I	probably benign	Het
Gart	G	T	16: 91,621,681	A970E	probably benign	Het
Gga2	T	A	7: 122,002,103	H259L	probably benign	Het
Glis3	C	A	19: 28,531,598	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923	N53I	probably damaging	Het
Golgb1	C	A	16: 36,915,951	C1894*	probably null	Het
Ifi203	T	C	1: 173,929,167	N350S	unknown	Het
Isy1	T	A	6: 87,833,706	R55S	unknown	Het
Itsn1	A	T	16: 91,839,699	D678V	unknown	Het
Lhcgr	T	A	17: 88,742,078	R673S	probably benign	Het
Lnx2	C	A	5: 147,020,133	R601L	possibly damaging	Het
Map4	A	G	9: 110,081,517	T1093A	probably benign	Het
Mink1	A	G	11: 70,599,073	K92E	probably benign	Het
Moxd1	A	G	10: 24,301,465	I560V	probably benign	Het
Mrc2	C	A	11: 105,329,235	D327E	possibly damaging	Het
Notch2	A	G	3: 98,131,327	E1262G	possibly damaging	Het
Olfr1025-ps1	A	T	2: 85,918,374	I150F	probably benign	Het
Olfr1052	GTACTTTTT	GT	2: 86,297,994		probably null	Het
Olfr123	T	A	17: 37,796,357	N304K	probably benign	Het
Olfr1298	A	G	2: 111,645,952	L15S	probably benign	Het
Olfr1434	G	A	19: 12,283,816	G256D	possibly damaging	Het
Olfr1477	T	A	19: 13,503,180	M279K	possibly damaging	Het
Olfr653	C	A	7: 104,580,438	S264*	probably null	Het
Olfr785	A	T	10: 129,409,785	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,473,347	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,943,040	Y104F	probably benign	Het
Plscr2	T	C	9: 92,291,140		probably null	Het
Ppfibp1	C	T	6: 146,978,053	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,835,397	G158D	probably benign	Het
Ptgs2	T	C	1: 150,102,695	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,832,759	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,131,216	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,194,296		probably null	Het
Sema3b	T	A	9: 107,600,942	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,145,494	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,128,162	R5C	possibly damaging	Het
Sphk2	T	C	7: 45,712,470	N181S	possibly damaging	Het
Sqor	A	G	2: 122,799,810	T235A	probably benign	Het
St13	A	G	15: 81,389,653	L80P	probably damaging	Het
St3gal6	A	G	16: 58,493,711	Y20H	probably benign	Het
Sun1	T	G	5: 139,248,484	Y899D	probably damaging	Het
Synm	C	T	7: 67,735,380	E845K	possibly damaging	Het
Tg	A	T	15: 66,694,784	D1227V	possibly damaging	Het
Thbs1	A	G	2: 118,114,957	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,578,495	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,388,306	D856G	probably benign	Het
Vil1	G	A	1: 74,418,444	A79T	probably damaging	Het
Vmn1r119	T	A	7: 21,012,346	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,596,054	M69K	probably benign	Het
Wdr78	A	T	4: 103,050,187	I634N	possibly damaging	Het
Ywhaq	A	G	12: 21,394,981	L221P	probably damaging	Het
Zfp142	G	A	1: 74,570,008	Q1543*	probably null	Het
Zfp384	T	A	6: 125,024,830	M146K	possibly damaging	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
R1848:Slmap	UTSW	14	26422574	missense	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
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'- GTGACACCTACCTAAGCTGC -3'
(R):5'- AAATGAATGGGGTCAGTTCTGG -3'

Sequencing Primer
(F):5'- ACCTAAGCTGCTGCATTCTTTAAGG -3'
(R):5'- CTGGCTTTCAGCTAGCTAAAGCAAG -3'

Posted On

2019-06-26