Incidental Mutation 'R6977:Slmap'
ID 542526
Institutional Source Beutler Lab
Gene Symbol Slmap
Ensembl Gene ENSMUSG00000021870
Gene Name sarcolemma associated protein
Synonyms Slap, D330001L02Rik, Miranda
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6977 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 26134323-26256086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26254574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 36 (R36H)
Ref Sequence ENSEMBL: ENSMUSP00000107949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038522] [ENSMUST00000090359] [ENSMUST00000102956] [ENSMUST00000112330] [ENSMUST00000139075]
AlphaFold Q3URD3
Predicted Effect probably damaging
Transcript: ENSMUST00000038522
AA Change: R36H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: R36H

DomainStartEndE-ValueType
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: R36H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: R36H

DomainStartEndE-ValueType
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: R36H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: R36H

DomainStartEndE-ValueType
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: R36H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: R36H

DomainStartEndE-ValueType
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: R36H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: R36H

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik G A 13: 59,839,394 (GRCm39) S17L possibly damaging Het
Acap2 G T 16: 30,936,079 (GRCm39) T336K probably damaging Het
Angptl7 A T 4: 148,581,850 (GRCm39) W179R probably damaging Het
Atp9b A G 18: 80,796,317 (GRCm39) F909L probably damaging Het
BC051665 A T 13: 60,932,486 (GRCm39) Y66* probably null Het
C8b A G 4: 104,644,193 (GRCm39) T287A possibly damaging Het
Camk2a G A 18: 61,093,076 (GRCm39) G301E probably damaging Het
Ccdc186 A G 19: 56,787,219 (GRCm39) M583T probably benign Het
Cd55b T A 1: 130,347,528 (GRCm39) K94N probably damaging Het
Celsr3 T C 9: 108,704,914 (GRCm39) S466P probably benign Het
Cep152 A G 2: 125,410,742 (GRCm39) probably null Het
Cep70 A G 9: 99,173,729 (GRCm39) D420G probably damaging Het
Cnih4 T C 1: 180,989,713 (GRCm39) S48P possibly damaging Het
Cpne8 T C 15: 90,381,294 (GRCm39) K507E probably benign Het
Cyp2b23 T C 7: 26,380,745 (GRCm39) Y160C possibly damaging Het
Dnah9 C A 11: 65,998,735 (GRCm39) M1104I probably benign Het
Fam135a T A 1: 24,093,179 (GRCm39) N149I probably damaging Het
Fbxl4 A T 4: 22,376,930 (GRCm39) Q122L probably benign Het
Gm11232 T C 4: 71,676,178 (GRCm39) probably benign Het
Gm5901 A G 7: 105,026,367 (GRCm39) Y45C probably benign Het
Gsap A T 5: 21,476,219 (GRCm39) I553F probably damaging Het
Ifih1 A G 2: 62,436,530 (GRCm39) F631S probably damaging Het
Kics2 A G 10: 121,581,371 (GRCm39) H124R probably damaging Het
Kif21a T C 15: 90,865,040 (GRCm39) D544G probably damaging Het
Klc2 G A 19: 5,159,393 (GRCm39) R552C probably damaging Het
Lamp1 T C 8: 13,223,661 (GRCm39) V293A probably damaging Het
Muc16 T A 9: 18,556,633 (GRCm39) D3220V unknown Het
Myb A T 10: 21,028,551 (GRCm39) I104K probably damaging Het
Mycbp2 C A 14: 103,392,342 (GRCm39) R3227L probably damaging Het
Ncapd2 A T 6: 125,148,472 (GRCm39) L1053Q probably damaging Het
Nelfe T A 17: 35,073,688 (GRCm39) V316E probably damaging Het
Noxred1 T C 12: 87,268,091 (GRCm39) I347V probably null Het
Or8g50 A G 9: 39,648,330 (GRCm39) Y73C probably benign Het
Plekha7 A G 7: 115,735,202 (GRCm39) V1033A probably benign Het
Plekhh1 G C 12: 79,112,491 (GRCm39) W589C probably damaging Het
Ppp6r3 A T 19: 3,517,272 (GRCm39) F658L probably damaging Het
Prss55 A G 14: 64,316,785 (GRCm39) M119T probably damaging Het
Rab28 G A 5: 41,855,735 (GRCm39) Q87* probably null Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,229,113 (GRCm39) probably benign Het
Sdr16c6 A T 4: 4,076,865 (GRCm39) F11L probably benign Het
Serpinb5 T G 1: 106,800,077 (GRCm39) V89G probably benign Het
Slc12a9 A T 5: 137,314,075 (GRCm39) V628E probably damaging Het
Slc25a34 G A 4: 141,347,809 (GRCm39) R291C probably damaging Het
Sybu A G 15: 44,541,091 (GRCm39) S324P probably benign Het
Syk A T 13: 52,787,094 (GRCm39) M363L probably benign Het
Tecpr2 T C 12: 110,906,200 (GRCm39) V934A probably benign Het
Thpo A G 16: 20,544,433 (GRCm39) L200P probably damaging Het
Tiam2 T A 17: 3,568,934 (GRCm39) S1693R probably damaging Het
Usp48 A G 4: 137,377,671 (GRCm39) D232G probably damaging Het
Wasf1 A G 10: 40,802,581 (GRCm39) S79G probably damaging Het
Zfp90 G T 8: 107,151,948 (GRCm39) D554Y probably damaging Het
Zfp90 A T 8: 107,151,949 (GRCm39) D554V probably damaging Het
Zic5 T C 14: 122,696,960 (GRCm39) T552A unknown Het
Zic5 CGACGAGTAG C 14: 122,696,967 (GRCm39) probably benign Het
Other mutations in Slmap
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GAAGAAACCCTGAGATCGTTGC -3'
(R):5'- GCTTGAGAAGAGCATTCCGAAC -3'

Sequencing Primer
(F):5'- CTGAGATCGTTGCATACATTACACC -3'
(R):5'- ATTCCGAACCTGGAGGAGCTC -3'
Posted On 2018-11-28