Mutagenetix > Incidental Mutation

Incidental Mutation 'R0433:Slmap'

38957

Institutional Source

Beutler Lab

Gene Symbol

Slmap

Ensembl Gene

ENSMUSG00000021870

Gene Name

sarcolemma associated protein

Synonyms

Slap, D330001L02Rik, Miranda

MMRRC Submission

038635-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26134323-26256086 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 26174749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 161 (L161*)

Gene Model

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

AlphaFold

Q3URD3

Predicted Effect

probably benign
Transcript: ENSMUST00000038522

SMART Domains

Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870

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 null
Transcript: ENSMUST00000090359
AA Change: L398*

SMART Domains

Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: L398*

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

SMART Domains

Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870

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

SMART Domains

Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870

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 null
Transcript: ENSMUST00000112331
AA Change: L260*

SMART Domains

Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: L260*

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 null
Transcript: ENSMUST00000139075
AA Change: L415*

SMART Domains

Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: L415*

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

probably null
Transcript: ENSMUST00000146438
AA Change: L161*

SMART Domains

Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870
AA Change: L161*

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

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

99% (108/109)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,636 (GRCm39)	V199A	possibly damaging	Het
Abcb5	T	C	12: 118,841,545 (GRCm39)	M967V	probably benign	Het
Adcy10	T	A	1: 165,379,591 (GRCm39)	L951Q	probably damaging	Het
Amer2	A	T	14: 60,616,032 (GRCm39)	S76C	probably damaging	Het
Atad1	T	C	19: 32,675,877 (GRCm39)	I182M	probably benign	Het
Bpi	A	G	2: 158,100,339 (GRCm39)	D42G	probably damaging	Het
C7	G	T	15: 5,018,398 (GRCm39)	T815K	probably damaging	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Camk1g	A	G	1: 193,036,366 (GRCm39)	F165L	probably damaging	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccser2	A	C	14: 36,640,486 (GRCm39)	F37L	probably damaging	Het
Cfap43	A	G	19: 47,814,210 (GRCm39)	F208S	probably benign	Het
Cfap54	G	A	10: 92,814,942 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,699,853 (GRCm39)	D62E	probably damaging	Het
Cnksr2	A	T	X: 156,671,554 (GRCm39)	M483K	probably benign	Het
Cnksr2	C	A	X: 156,671,553 (GRCm39)	M483I	probably benign	Het
Cog8	T	C	8: 107,783,110 (GRCm39)	S60G	possibly damaging	Het
Col4a3	C	T	1: 82,647,940 (GRCm39)	P484S	unknown	Het
Col6a4	C	T	9: 105,945,193 (GRCm39)	G974R	probably damaging	Het
Cplane1	T	C	15: 8,246,046 (GRCm39)	S1473P	probably benign	Het
Dbnl	T	G	11: 5,746,825 (GRCm39)		probably null	Het
Dhcr7	T	C	7: 143,394,200 (GRCm39)	C114R	possibly damaging	Het
Dnah2	C	A	11: 69,350,114 (GRCm39)	D2340Y	probably damaging	Het
Dnai4	T	C	4: 102,960,450 (GRCm39)	N67D	probably benign	Het
Dusp10	T	A	1: 183,801,393 (GRCm39)	Y387N	probably damaging	Het
Eipr1	C	T	12: 28,909,330 (GRCm39)	T199I	possibly damaging	Het
Emc2	T	G	15: 43,360,520 (GRCm39)		probably null	Het
Enpp3	A	G	10: 24,696,495 (GRCm39)	S147P	probably benign	Het
Fam133b	T	A	5: 3,608,560 (GRCm39)		probably benign	Het
Fat1	C	A	8: 45,477,686 (GRCm39)	T2244K	possibly damaging	Het
Fbn1	A	G	2: 125,190,135 (GRCm39)	S1453P	possibly damaging	Het
Fez2	A	T	17: 78,725,476 (GRCm39)	F13I	probably damaging	Het
Ggnbp2	T	C	11: 84,727,246 (GRCm39)	K530R	probably damaging	Het
Gpa33	T	C	1: 165,991,330 (GRCm39)		probably benign	Het
Gpr142	T	C	11: 114,696,823 (GRCm39)	I123T	probably damaging	Het
Il21	T	G	3: 37,286,684 (GRCm39)	I11L	possibly damaging	Het
Klhl7	A	G	5: 24,332,700 (GRCm39)	E86G	probably damaging	Het
Klk10	G	T	7: 43,430,989 (GRCm39)	A11S	possibly damaging	Het
Knl1	A	T	2: 118,934,542 (GRCm39)	D2115V	probably damaging	Het
Lonp2	A	G	8: 87,360,582 (GRCm39)	D185G	probably damaging	Het
Lrrc47	T	C	4: 154,102,822 (GRCm39)		probably benign	Het
Lrrcc1	A	G	3: 14,624,434 (GRCm39)	I698V	probably damaging	Het
Lzts2	T	C	19: 45,010,115 (GRCm39)	V83A	possibly damaging	Het
Melk	C	A	4: 44,340,614 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,486 (GRCm39)	V150I	probably benign	Het
Morn3	C	A	5: 123,177,396 (GRCm39)	M129I	probably benign	Het
Mroh2b	T	A	15: 4,971,116 (GRCm39)	D1040E	probably benign	Het
Mroh5	T	C	15: 73,661,877 (GRCm39)	N438S	probably benign	Het
Mroh5	T	A	15: 73,662,657 (GRCm39)	Q387L	probably damaging	Het
Myh15	A	G	16: 48,965,599 (GRCm39)	D1168G	probably damaging	Het
Nek10	A	G	14: 14,860,927 (GRCm38)	E493G	probably benign	Het
Nipsnap3a	A	G	4: 53,000,316 (GRCm39)	Y227C	probably damaging	Het
Nlrp9c	T	A	7: 26,085,244 (GRCm39)	T112S	probably benign	Het
Nphp4	T	C	4: 152,602,629 (GRCm39)	V401A	probably benign	Het
Nr1h2	A	G	7: 44,199,411 (GRCm39)	*365Q	probably null	Het
Or13p5	T	C	4: 118,592,287 (GRCm39)	V187A	probably benign	Het
Or5p54	T	C	7: 107,554,469 (GRCm39)	I207T	probably damaging	Het
Pacs2	T	A	12: 113,020,464 (GRCm39)	V279D	possibly damaging	Het
Pdcd2	C	T	17: 15,746,646 (GRCm39)	C171Y	probably benign	Het
Pde11a	T	A	2: 76,168,050 (GRCm39)	D301V	possibly damaging	Het
Pfpl	T	G	19: 12,406,839 (GRCm39)	N363K	probably damaging	Het
Phf14	T	A	6: 11,933,742 (GRCm39)	S201R	probably damaging	Het
Pip4k2c	G	A	10: 127,044,815 (GRCm39)	P66S	probably benign	Het
Pou2f3	G	T	9: 43,038,693 (GRCm39)	H392N	probably benign	Het
Pou3f1	G	T	4: 124,552,697 (GRCm39)	G400C	probably damaging	Het
Ptprg	T	C	14: 12,220,620 (GRCm38)	I1219T	probably damaging	Het
Rfx6	A	G	10: 51,596,124 (GRCm39)	D435G	probably damaging	Het
Rhpn2	T	A	7: 35,084,899 (GRCm39)	S598T	probably benign	Het
Sdccag8	C	A	1: 176,672,387 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,362,279 (GRCm39)	Y43*	probably null	Het
Sele	T	C	1: 163,876,813 (GRCm39)	Y30H	possibly damaging	Het
Sgsm2	C	T	11: 74,749,016 (GRCm39)		probably null	Het
Slc45a2	T	C	15: 11,025,831 (GRCm39)	Y394H	probably benign	Het
Slc4a10	T	G	2: 62,120,327 (GRCm39)	I788S	probably benign	Het
Slx4	A	T	16: 3,803,882 (GRCm39)	D977E	probably benign	Het
Spata31e5	A	T	1: 28,816,423 (GRCm39)	Y536*	probably null	Het
Spata31f3	A	G	4: 42,874,013 (GRCm39)		probably benign	Het
Spen	A	T	4: 141,211,069 (GRCm39)	M608K	unknown	Het
St8sia4	G	C	1: 95,519,429 (GRCm39)	T353R	probably damaging	Het
Stab2	G	T	10: 86,679,355 (GRCm39)		probably benign	Het
Stx12	C	T	4: 132,585,741 (GRCm39)	G213D	probably damaging	Het
Synj2	A	T	17: 6,084,123 (GRCm39)	N270Y	probably damaging	Het
Tdrd9	C	T	12: 111,992,015 (GRCm39)	R438*	probably null	Het
Tert	T	C	13: 73,775,200 (GRCm39)	Y18H	probably damaging	Het
Tph1	A	T	7: 46,303,245 (GRCm39)	F244L	probably damaging	Het
Triobp	T	C	15: 78,852,401 (GRCm39)	F852L	possibly damaging	Het
Trpv1	T	C	11: 73,143,834 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,312,741 (GRCm39)		probably null	Het
Ulk4	A	G	9: 120,873,885 (GRCm39)	I1182T	probably benign	Het
Uqcc1	A	G	2: 155,752,288 (GRCm39)	Y98H	probably damaging	Het
Usp25	A	G	16: 76,906,105 (GRCm39)	I854V	probably benign	Het
Usp50	T	C	2: 126,603,464 (GRCm39)	S361G	probably damaging	Het
Uspl1	C	A	5: 149,151,625 (GRCm39)	Q743K	probably damaging	Het
Vmn2r3	A	G	3: 64,183,054 (GRCm39)	V215A	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,335 (GRCm39)	H94L	probably benign	Het
Vps37c	T	C	19: 10,690,393 (GRCm39)	V285A	probably benign	Het
Vwa8	T	C	14: 79,300,116 (GRCm39)	V983A	probably damaging	Het
Zcchc9	C	T	13: 91,954,081 (GRCm39)	R58H	probably benign	Het
Zdbf2	T	C	1: 63,345,302 (GRCm39)	V1227A	possibly damaging	Het
Zfp292	T	C	4: 34,839,959 (GRCm39)	K64E	probably damaging	Het
Zfp948	A	G	17: 21,807,764 (GRCm39)	T319A	probably benign	Het
Zp3r	T	G	1: 130,504,870 (GRCm39)		probably benign	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
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
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'- CAGGTTTGCTGATACCTGAAGACAGTT -3'
(R):5'- GACCCCGCTTGCTCAGTCC -3'

Sequencing Primer
(F):5'- CTGATACCTGAAGACAGTTTTACTAC -3'
(R):5'- cccactgagccatctcac -3'

Posted On

2013-05-23