Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Slmap'

554714

Institutional Source

Beutler Lab

Gene Symbol

Slmap

Ensembl Gene

ENSMUSG00000021870

Gene Name

sarcolemma associated protein

Synonyms

D330001L02Rik, Slap

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26413168-26534931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26533431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 32 (R32H)

Ref Sequence

ENSEMBL: ENSMUSP00000117816 (fasta)

Gene Model

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

AlphaFold

Q3URD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038522
AA Change: R32H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: R32H

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: R32H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: R32H

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: R32H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: R32H

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: ENSMUST00000112330
AA Change: R32H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: R32H

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 damaging
Transcript: ENSMUST00000139075
AA Change: R32H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: R32H

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

Coding Region Coverage

1x: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 137,376,982	H144N	unknown	Het
Acsm4	C	T	7: 119,698,575	T145M	probably damaging	Het
Adam10	T	C	9: 70,766,081	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,817,298	L430P		Het
Alk	T	C	17: 71,949,921	M648V	probably benign	Het
Arhgap35	T	C	7: 16,563,869	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,278,670	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,590,856	V16M	probably damaging	Het
Chil3	T	G	3: 106,148,659	D366A	probably damaging	Het
Chuk	A	G	19: 44,098,607	V151A	probably damaging	Het
Cpd	T	G	11: 76,797,788	H886P	probably benign	Het
Cped1	T	A	6: 22,222,450	C736*	probably null	Het
Creb3l3	T	C	10: 81,084,912	E428G	probably benign	Het
Csad	G	A	15: 102,188,650	L7F	probably benign	Het
Dnah1	C	T	14: 31,284,455	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,892,686	Y159H	probably damaging	Het
Dpysl4	T	A	7: 139,089,578	Y57*	probably null	Het
F2rl1	T	G	13: 95,513,646	N243H	probably benign	Het
Fhl4	T	C	10: 85,098,429	K163E	possibly damaging	Het
Flot2	T	C	11: 78,053,367	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,990,852	T5643K	possibly damaging	Het
Gm853	A	T	4: 130,219,161	N147K	possibly damaging	Het
Gm8765	A	T	13: 50,700,971	E215V	probably damaging	Het
Golga4	T	A	9: 118,553,453	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,469,077	T426A	probably benign	Het
Kdm2a	T	A	19: 4,343,173	M385L	probably benign	Het
Kdm3b	T	C	18: 34,809,087	S744P	probably damaging	Het
Krtap6-3	T	A	16: 89,084,160	Y26*	probably null	Het
Lama2	T	C	10: 27,204,905	D974G	probably damaging	Het
Lipo5	A	T	19: 33,465,939	L159Q	probably null	Het
Mau2	C	T	8: 70,030,652	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,447,829	L236P	probably benign	Het
Mta1	A	G	12: 113,133,250	T564A	probably benign	Het
Mylk	C	T	16: 34,875,642	S249L	probably damaging	Het
Ncor1	G	T	11: 62,344,663	T331K	probably damaging	Het
Nsun3	T	A	16: 62,785,865	K15N	probably damaging	Het
Nsun5	A	G	5: 135,371,501	Y132C	probably benign	Het
Obsl1	T	A	1: 75,487,963	T1605S	probably benign	Het
Olfr1463	T	C	19: 13,234,895	I215T	probably damaging	Het
Olfr519	A	G	7: 108,894,102	Y107H	probably damaging	Het
Olfr566	A	G	7: 102,856,602	Y227H	probably damaging	Het
Olfr574	A	T	7: 102,949,449	Y328F	probably benign	Het
Oraov1	T	A	7: 144,916,444	Y37N	probably damaging	Het
P2rx1	A	G	11: 73,009,200	N148D	probably benign	Het
Pogz	T	A	3: 94,879,796	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,684,185	T655N	probably damaging	Het
Prss34	T	C	17: 25,298,908		probably null	Het
Rhpn2	A	G	7: 35,390,753		probably null	Het
Runx1	T	A	16: 92,613,760	D256V	probably damaging	Het
Shc1	C	A	3: 89,427,408	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,335,447	D51G	probably benign	Het
Slc6a3	A	T	13: 73,571,523	N557I	probably benign	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srr	C	A	11: 74,910,308	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,786	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,624,366	*920K	probably null	Het
Tenm2	T	A	11: 36,063,902	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,668,867	N322S	probably benign	Het
Tlcd2	A	G	11: 75,468,591	I70V	probably benign	Het
Tmem214	A	G	5: 30,871,451	D128G	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,781	V64A	probably benign	Het
Tyro3	T	C	2: 119,802,364	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,031,015	D627G	probably benign	Het
Utp6	T	C	11: 79,962,273	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,394,343	K775R	probably damaging	Het
Wdfy3	CG	C	5: 101,882,961		probably null	Het
Zw10	C	T	9: 49,071,644	T525I	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
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
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'- AGAAACCCTGAGATCGTTGCATAC -3'
(R):5'- AGGCTTGAGAAGAGCATTCC -3'

Sequencing Primer
(F):5'- CTGAGATCGTTGCATACATTACACC -3'
(R):5'- CTTGAGAAGAGCATTCCGAACCTG -3'

Posted On

2019-06-07