Mutagenetix > Incidental Mutations

Incidental Mutation 'R4731:Slmap'

358877

Institutional Source

Beutler Lab

Gene Symbol

Slmap

Ensembl Gene

ENSMUSG00000021870

Gene Name

sarcolemma associated protein

Synonyms

D330001L02Rik, Slap

MMRRC Submission

042021-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4731 (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 26468535 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 156 (N156S)

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: N156S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: N156S

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: N156S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: N156S

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: N156S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: N156S

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: N156S

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

SMART Domains

Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: N156S

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: N35S

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: N35S

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: N156S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: N156S

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

noncoding transcript
Transcript: ENSMUST00000144737

Predicted Effect

probably benign
Transcript: ENSMUST00000146438

SMART Domains

Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870

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

Meta Mutation Damage Score

0.1368

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (117/118)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,270,662	S668C	probably damaging	Het
Adcy8	A	G	15: 64,754,862	V709A	possibly damaging	Het
AI413582	A	G	17: 27,565,270		probably benign	Het
Aim2	T	A	1: 173,463,876	D282E	possibly damaging	Het
Akap9	T	A	5: 3,962,266	S990T	possibly damaging	Het
Aloxe3	A	T	11: 69,128,654	D131V	probably null	Het
Ankrd28	A	C	14: 31,755,741	C115G	probably benign	Het
Anxa2	A	T	9: 69,486,530	M217L	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
BC024978	T	A	7: 27,201,043	M149K	probably damaging	Het
Btaf1	A	G	19: 36,981,078	D665G	probably benign	Het
Ccdc36	A	G	9: 108,405,385	V368A	probably benign	Het
Cdc42bpg	T	A	19: 6,311,191	V282E	probably damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cdipt	T	A	7: 126,978,358	L92H	probably damaging	Het
Cep104	T	A	4: 153,988,426	D380E	probably damaging	Het
Cfap74	T	A	4: 155,463,602		probably benign	Het
Chd1	A	T	17: 17,377,817	E55D	probably benign	Het
Cldnd2	T	A	7: 43,442,189	C65S	possibly damaging	Het
Clec9a	G	T	6: 129,416,336	A108S	probably benign	Het
Cog7	T	C	7: 121,964,244	D215G	probably benign	Het
Col9a3	G	A	2: 180,610,681	E373K	probably damaging	Het
Deptor	C	A	15: 55,181,010	H191N	probably benign	Het
Dgkz	A	T	2: 91,938,339	I699N	probably damaging	Het
Dnah7c	T	A	1: 46,770,173	N3550K	probably damaging	Het
Dnah8	A	G	17: 30,775,061	K3384R	probably null	Het
Dnajc13	CT	C	9: 104,186,805		probably benign	Het
Dnhd1	C	A	7: 105,673,849	N521K	probably benign	Het
Efhb	G	A	17: 53,426,244	T533I	probably damaging	Het
Ercc4	A	T	16: 13,147,607	H701L	probably damaging	Het
Ern1	A	T	11: 106,434,850		probably benign	Het
Etfb	T	C	7: 43,444,200	V17A	probably damaging	Het
Evc	T	A	5: 37,323,797	M235L	probably benign	Het
Fbxw22	T	C	9: 109,378,869	I445V	probably benign	Het
Fmnl2	A	G	2: 53,117,069	T764A	possibly damaging	Het
Fto	T	A	8: 91,409,714	D205E	probably damaging	Het
Galntl6	G	A	8: 58,427,813	P147L	probably damaging	Het
Gm6871	T	C	7: 41,546,749	I39V	probably benign	Het
Gpr83	A	G	9: 14,866,174		probably benign	Het
Gucy1a2	A	T	9: 3,759,424	H410L	probably benign	Het
Helb	T	C	10: 120,094,288		probably null	Het
Ifi214	T	C	1: 173,526,591	Q171R	probably benign	Het
Ifit1bl1	T	C	19: 34,594,321	I245M	probably benign	Het
Igdcc3	A	G	9: 65,181,997	T492A	probably damaging	Het
Ighv13-1	T	C	12: 114,267,632		probably benign	Het
Igkv4-50	T	C	6: 69,701,000	K40R	probably benign	Het
Igkv8-18	T	A	6: 70,356,296	I74N	probably damaging	Het
Kbtbd7	T	C	14: 79,428,800	*691Q	probably null	Het
Khnyn	T	A	14: 55,886,489		probably null	Het
Kif26a	G	A	12: 112,175,573	A754T	probably benign	Het
Llgl1	T	A	11: 60,706,225	L194*	probably null	Het
Map3k12	G	T	15: 102,501,282	T686N	probably benign	Het
Myo18a	C	A	11: 77,829,759	P741Q	probably benign	Het
Ncaph2	G	A	15: 89,355,827		probably benign	Het
Nfkb2	A	G	19: 46,308,964	Q406R	possibly damaging	Het
Olfr1378	G	A	11: 50,969,266	V83M	possibly damaging	Het
Olfr138	T	A	17: 38,275,547	Y259N	probably damaging	Het
Olfr744	T	A	14: 50,618,569	C116S	probably benign	Het
Olfr874	A	T	9: 37,746,535	T134S	probably benign	Het
Olfr94	T	C	17: 37,197,024	T315A	probably damaging	Het
Olfr980	A	T	9: 40,006,268	I227N	probably damaging	Het
Ostm1	C	T	10: 42,678,979		probably benign	Het
Pabpc1	A	T	15: 36,599,284	V389E	probably benign	Het
Pank4	A	T	4: 154,971,390	M291L	probably benign	Het
Pex6	A	G	17: 46,722,288	D579G	probably benign	Het
Pex6	A	G	17: 46,724,707		probably null	Het
Phc2	C	T	4: 128,707,971	T73M	probably damaging	Het
Pkp4	G	A	2: 59,334,932		probably null	Het
Plekhg1	T	A	10: 3,957,506	S808T	probably benign	Het
Plk5	A	T	10: 80,358,797	H118L	probably damaging	Het
Pnlip	T	C	19: 58,676,487	I249T	probably benign	Het
Ptov1	T	C	7: 44,867,109	D134G	probably benign	Het
Ptprb	T	C	10: 116,319,333	V664A	probably benign	Het
Ptprz1	T	A	6: 23,002,610	S1566R	probably benign	Het
Pum1	T	C	4: 130,718,193	S158P	probably benign	Het
Rae1	G	T	2: 173,015,392		probably benign	Het
Ros1	A	C	10: 52,142,229	W778G	probably damaging	Het
Ryr2	A	T	13: 11,577,909	M4653K	possibly damaging	Het
Sacm1l	G	A	9: 123,590,830	V553I	probably benign	Het
Samd4b	G	A	7: 28,406,663	R377W	probably benign	Het
Selenoo	A	G	15: 89,099,328	Q524R	probably benign	Het
Slc30a3	T	C	5: 31,093,294	S22G	probably benign	Het
Slc35g2	A	C	9: 100,552,502	V372G	probably benign	Het
Slc5a8	T	C	10: 88,925,787		probably null	Het
Slc7a7	T	C	14: 54,408,733	Y91C	probably damaging	Het
Slc7a9	T	A	7: 35,453,563	Y135*	probably null	Het
Slfn1	A	T	11: 83,121,835	E259V	probably damaging	Het
Sorbs1	T	A	19: 40,314,689	R485S	probably benign	Het
Sptbn2	T	A	19: 4,742,480	F1388I	probably damaging	Het
Stac2	C	T	11: 98,039,695	G349E	probably damaging	Het
Tigd2	T	A	6: 59,211,415	H422Q	probably benign	Het
Tle1	T	C	4: 72,125,019	N538D	possibly damaging	Het
Tmtc1	A	C	6: 148,284,980		probably null	Het
Tns3	C	T	11: 8,450,986	R1104H	probably benign	Het
Tom1l2	C	G	11: 60,270,433	R84P	probably damaging	Het
Trank1	T	C	9: 111,390,410	F2072L	probably damaging	Het
Trim6	T	C	7: 104,232,648	Y369H	probably damaging	Het
Trpc7	A	G	13: 56,804,553	S541P	probably damaging	Het
Trpv4	T	C	5: 114,622,753	D732G	possibly damaging	Het
Tsc2	C	A	17: 24,603,275	V1141F	possibly damaging	Het
Tspoap1	T	A	11: 87,765,647	V257E	probably benign	Het
Ttn	A	T	2: 76,943,011	M2395K	unknown	Het
Ubd	A	C	17: 37,195,702	T160P	probably benign	Het
Ubr7	A	G	12: 102,769,226	T315A	probably benign	Het
Ugt2b36	G	T	5: 87,081,538	Y156*	probably null	Het
Ulk4	G	A	9: 121,263,638	R178*	probably null	Het
Urod	G	A	4: 116,991,673	A92V	possibly damaging	Het
Utp20	T	C	10: 88,754,520	D2364G	possibly damaging	Het
Vmn1r87	A	T	7: 13,132,327	M11K	possibly damaging	Het
Vstm4	A	G	14: 32,917,902	K96E	possibly damaging	Het
Wwp1	T	C	4: 19,661,990	D172G	probably benign	Het
Zfhx3	A	G	8: 108,956,084	Q3385R	unknown	Het
Zfp229	C	T	17: 21,745,286	H166Y	possibly damaging	Het
Zfp738	A	T	13: 67,669,914	C653S	probably damaging	Het
Zp2	C	A	7: 120,138,120	V282L	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
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	intron	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
Z1177:Slmap	UTSW	14	26533450	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACTTAGCAATCTTGACCCTTTT -3'
(R):5'- TGTGCATGCTCCCTGTGA -3'

Sequencing Primer
(F):5'- AATCTTGACCCTTTTTCTTCACAAG -3'
(R):5'- CTGATACAGAGGGATGCTGCTTAC -3'

Posted On

2015-11-11