Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Slmap'

472665

Institutional Source

Beutler Lab

Gene Symbol

Slmap

Ensembl Gene

ENSMUSG00000021870

Gene Name

sarcolemma associated protein

Synonyms

Slap, D330001L02Rik, Miranda

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26134323-26256086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26181364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 323 (V323E)

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: V323E

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: V323E

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: V323E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: V323E

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: V323E

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: V323E

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: V323E

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

SMART Domains

Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: V323E

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: V202E

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

SMART Domains

Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: V202E

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 benign
Transcript: ENSMUST00000139075
AA Change: V323E

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: V323E

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

unknown
Transcript: ENSMUST00000146438
AA Change: V86E

SMART Domains

Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870
AA Change: V86E

Domain	Start	End	E-Value	Type
coiled coil region	17	142	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

Meta Mutation Damage Score

0.0719

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Ctsh	A	G	9: 89,936,601 (GRCm39)	E26G	probably benign	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,620,777 (GRCm39)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,183,022 (GRCm39)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	Het

Other mutations in Slmap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02402:Slmap	APN	14	26,184,865 (GRCm39)	missense	probably damaging	0.97
IGL02612:Slmap	APN	14	26,180,621 (GRCm39)	splice site	probably benign
IGL02630:Slmap	APN	14	26,143,586 (GRCm39)	missense	possibly damaging	0.93
IGL02798:Slmap	APN	14	26,191,533 (GRCm39)	missense	possibly damaging	0.88
PIT4382001:Slmap	UTSW	14	26,254,586 (GRCm39)	missense	probably damaging	1.00
R0433:Slmap	UTSW	14	26,174,749 (GRCm39)	nonsense	probably null
R0963:Slmap	UTSW	14	26,189,675 (GRCm39)	missense	probably damaging	1.00
R1721:Slmap	UTSW	14	26,181,373 (GRCm39)	splice site	probably benign
R1848:Slmap	UTSW	14	26,143,729 (GRCm39)	missense	probably benign
R2151:Slmap	UTSW	14	26,139,402 (GRCm39)	missense	probably damaging	1.00
R2152:Slmap	UTSW	14	26,139,402 (GRCm39)	missense	probably damaging	1.00
R2153:Slmap	UTSW	14	26,139,402 (GRCm39)	missense	probably damaging	1.00
R2154:Slmap	UTSW	14	26,139,402 (GRCm39)	missense	probably damaging	1.00
R3725:Slmap	UTSW	14	26,148,397 (GRCm39)	missense	probably damaging	0.99
R3726:Slmap	UTSW	14	26,148,397 (GRCm39)	missense	probably damaging	0.99
R3935:Slmap	UTSW	14	26,180,570 (GRCm39)	missense	probably benign
R4118:Slmap	UTSW	14	26,204,027 (GRCm39)	missense	probably damaging	0.99
R4594:Slmap	UTSW	14	26,186,772 (GRCm39)	missense	probably damaging	1.00
R4731:Slmap	UTSW	14	26,189,690 (GRCm39)	missense	probably damaging	0.97
R4732:Slmap	UTSW	14	26,189,690 (GRCm39)	missense	probably damaging	0.97
R4733:Slmap	UTSW	14	26,189,690 (GRCm39)	missense	probably damaging	0.97
R4817:Slmap	UTSW	14	26,183,507 (GRCm39)	missense	probably damaging	0.97
R4847:Slmap	UTSW	14	26,147,763 (GRCm39)	missense	possibly damaging	0.90
R4860:Slmap	UTSW	14	26,181,364 (GRCm39)	missense	probably benign	0.22
R5092:Slmap	UTSW	14	26,184,744 (GRCm39)	missense	probably damaging	1.00
R5211:Slmap	UTSW	14	26,204,117 (GRCm39)	missense	probably damaging	1.00
R5387:Slmap	UTSW	14	26,181,088 (GRCm39)	missense	probably benign	0.22
R5821:Slmap	UTSW	14	26,183,435 (GRCm39)	missense	probably damaging	1.00
R6404:Slmap	UTSW	14	26,143,566 (GRCm39)	splice site	probably null
R6856:Slmap	UTSW	14	26,151,247 (GRCm39)	splice site	probably null
R6977:Slmap	UTSW	14	26,254,574 (GRCm39)	missense	probably damaging	1.00
R7108:Slmap	UTSW	14	26,143,676 (GRCm39)	missense	probably benign	0.04
R7320:Slmap	UTSW	14	26,181,227 (GRCm39)	missense	possibly damaging	0.53
R7470:Slmap	UTSW	14	26,148,575 (GRCm39)	missense	probably benign
R7520:Slmap	UTSW	14	26,148,575 (GRCm39)	missense	probably benign
R7540:Slmap	UTSW	14	26,181,346 (GRCm39)	missense	probably damaging	0.99
R7544:Slmap	UTSW	14	26,151,003 (GRCm39)	missense	probably damaging	0.99
R7544:Slmap	UTSW	14	26,151,001 (GRCm39)	missense	probably damaging	0.99
R8112:Slmap	UTSW	14	26,143,703 (GRCm39)	missense	probably damaging	1.00
R8153:Slmap	UTSW	14	26,254,488 (GRCm39)	missense	probably benign
R8196:Slmap	UTSW	14	26,189,646 (GRCm39)	missense	probably damaging	1.00
R8300:Slmap	UTSW	14	26,139,374 (GRCm39)	missense	possibly damaging	0.62
R8523:Slmap	UTSW	14	26,150,965 (GRCm39)	missense	probably damaging	0.99
R9039:Slmap	UTSW	14	26,254,519 (GRCm39)	missense	probably benign	0.08
R9094:Slmap	UTSW	14	26,137,355 (GRCm39)	intron	probably benign
R9504:Slmap	UTSW	14	26,136,133 (GRCm39)	missense	probably damaging	1.00
R9657:Slmap	UTSW	14	26,151,013 (GRCm39)	missense	probably benign	0.19
R9695:Slmap	UTSW	14	26,183,496 (GRCm39)	missense	probably damaging	0.97
R9763:Slmap	UTSW	14	26,204,118 (GRCm39)	missense	probably damaging	1.00
R9801:Slmap	UTSW	14	26,143,595 (GRCm39)	missense	probably damaging	1.00
Z1177:Slmap	UTSW	14	26,254,605 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTGCAGGTGTTCTAACCG -3'
(R):5'- CGGTGCAGATCACTCACTTTC -3'

Sequencing Primer
(F):5'- CTGCAGGTGTTCTAACCGTACTG -3'
(R):5'- GCAGATCACTCACTTTCCACATTGAG -3'

Posted On

2017-04-14