Mutagenetix > Incidental Mutations

Incidental Mutation 'R5821:Slmap'

449950

Institutional Source

Beutler Lab

Gene Symbol

Slmap

Ensembl Gene

ENSMUSG00000021870

Gene Name

sarcolemma associated protein

Synonyms

D330001L02Rik, Slap

MMRRC Submission

043401-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26413168-26534931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26462280 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 316 (D316G)

Ref Sequence

ENSEMBL: ENSMUSP00000117816 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038522
AA Change: D316G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: D316G

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 damaging
Transcript: ENSMUST00000090359
AA Change: D316G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: D316G

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 damaging
Transcript: ENSMUST00000102956
AA Change: D316G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: D316G

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: D316G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: D316G

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: D195G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: D195G

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

probably damaging
Transcript: ENSMUST00000139075
AA Change: D316G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: D316G

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

probably benign
Transcript: ENSMUST00000142679

SMART Domains

Protein: ENSMUSP00000123072
Gene: ENSMUSG00000021870

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

noncoding transcript
Transcript: ENSMUST00000144737

Predicted Effect

probably benign
Transcript: ENSMUST00000145738

SMART Domains

Protein: ENSMUSP00000117276
Gene: ENSMUSG00000021870

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

unknown
Transcript: ENSMUST00000146438
AA Change: D79G

SMART Domains

Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870
AA Change: D79G

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

Meta Mutation Damage Score

0.0935

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

100% (55/55)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,796,446	V278D	possibly damaging	Het
Acacb	A	G	5: 114,184,106	D227G	possibly damaging	Het
Akap9	A	G	5: 4,046,064	E2313G	probably benign	Het
Cchcr1	A	T	17: 35,528,848	E564D	probably damaging	Het
Cers2	G	A	3: 95,321,697		probably benign	Het
Cfap161	A	G	7: 83,775,980	I301T	probably benign	Het
Ciita	A	T	16: 10,511,805	E648V	possibly damaging	Het
Cir1	C	T	2: 73,312,460	C10Y	probably damaging	Het
Clasp1	T	A	1: 118,590,484	F1087I	probably damaging	Het
Cped1	C	A	6: 22,138,682	F415L	probably benign	Het
Dnah7b	A	G	1: 46,142,132	T1060A	possibly damaging	Het
Epha5	G	T	5: 84,084,728	P809H	probably damaging	Het
Fuca1	T	A	4: 135,922,962		probably null	Het
Gm20388	A	T	8: 122,900,633	*98R	probably null	Het
Gm26796	G	A	12: 80,758,790	R237C	unknown	Het
Idua	A	G	5: 108,679,734	Y138C	probably benign	Het
Ighd	A	T	12: 113,409,633	L240H	probably benign	Het
Ing2	C	G	8: 47,668,826	C229S	probably benign	Het
Kat8	G	A	7: 127,924,816	E343K	probably damaging	Het
Kctd8	A	T	5: 69,110,485	N427K	probably benign	Het
Kif16b	T	C	2: 142,702,666	E1147G	probably damaging	Het
Kif18a	G	A	2: 109,289,845		probably benign	Het
Krt82	T	A	15: 101,548,385	R187*	probably null	Het
Lrrk2	T	C	15: 91,709,390		probably null	Het
M1ap	T	C	6: 82,968,102	Y126H	probably benign	Het
Mmel1	A	G	4: 154,885,587	N226D	possibly damaging	Het
Mtmr11	A	G	3: 96,167,869	D353G	possibly damaging	Het
Nfkbia	A	T	12: 55,491,220	H149Q	probably damaging	Het
Nr5a1	A	T	2: 38,708,499	F95L	probably damaging	Het
Nutm2	A	G	13: 50,469,855	Y196C	probably benign	Het
Oxtr	A	G	6: 112,489,496	I101T	probably damaging	Het
Pcsk2	T	A	2: 143,749,115		probably null	Het
Pde5a	T	C	3: 122,817,955	I514T	probably benign	Het
Pign	A	G	1: 105,589,063	W585R	possibly damaging	Het
Pomgnt1	A	G	4: 116,155,736	S407G	probably benign	Het
Ppfia3	G	A	7: 45,353,616	T372I	probably damaging	Het
Prrc2b	A	T	2: 32,212,132	E739V	probably damaging	Het
Scn7a	T	C	2: 66,743,703	E192G	probably damaging	Het
Smim8	GGTTTAATGAAGAG	GG	4: 34,771,259		probably benign	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Tgm2	T	A	2: 158,143,054	Y44F	possibly damaging	Het
Tmc8	C	A	11: 117,792,629	S670*	probably null	Het
Tmem145	A	G	7: 25,315,521	D523G	probably benign	Het
Trove2	A	G	1: 143,766,765	V209A	probably benign	Het
Vmn2r115	G	A	17: 23,347,963	G483E	probably 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
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
Z1177:Slmap	UTSW	14	26533450	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCGTCTAGTGGTTGACATAGAAG -3'
(R):5'- TTGATGTAGACTAGTTCAGAACTACAC -3'

Sequencing Primer
(F):5'- GGCTGGATTAAGAATGTCCCTCAC -3'
(R):5'- GAAGATGAATGTACCCACC -3'

Posted On

2016-12-20