Incidental Mutation 'R0963:Slmap'
ID 81400
Institutional Source Beutler Lab
Gene Symbol Slmap
Ensembl Gene ENSMUSG00000021870
Gene Name sarcolemma associated protein
Synonyms Slap, D330001L02Rik, Miranda
MMRRC Submission 039092-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0963 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 26134323-26256086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26189675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 161 (Y161C)
Ref Sequence ENSEMBL: ENSMUSP00000117816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038522] [ENSMUST00000090359] [ENSMUST00000102956] [ENSMUST00000112330] [ENSMUST00000112331] [ENSMUST00000139075]
AlphaFold Q3URD3
Predicted Effect probably damaging
Transcript: ENSMUST00000038522
AA Change: Y161C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: Y161C

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: Y161C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: Y161C

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: Y161C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: Y161C

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: Y161C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: Y161C

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: ENSMUST00000112331
AA Change: Y40C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: Y40C

DomainStartEndE-ValueType
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: Y161C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: Y161C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144737
Predicted Effect probably benign
Transcript: ENSMUST00000146438
SMART Domains Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870

DomainStartEndE-ValueType
coiled coil region 17 142 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 94.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,722,451 (GRCm39) D369G probably damaging Het
Adcy7 T C 8: 89,038,893 (GRCm39) V303A probably damaging Het
Afap1l1 A T 18: 61,870,001 (GRCm39) Y610N probably damaging Het
Agr3 T A 12: 35,984,433 (GRCm39) H53Q probably benign Het
Akr1d1 A G 6: 37,507,209 (GRCm39) I10M probably damaging Het
Atp4b G T 8: 13,440,014 (GRCm39) H111N probably benign Het
Bbs7 G T 3: 36,667,412 (GRCm39) A8E probably benign Het
Bsn C T 9: 107,989,006 (GRCm39) V2249M possibly damaging Het
Cpt1a T C 19: 3,431,634 (GRCm39) S685P probably damaging Het
Dhx57 A T 17: 80,582,956 (GRCm39) H163Q probably benign Het
Duox2 A C 2: 122,117,653 (GRCm39) C894G probably benign Het
Ecm1 T C 3: 95,643,900 (GRCm39) T209A possibly damaging Het
Glo1 T C 17: 30,819,085 (GRCm39) N79S probably benign Het
Htra1 T A 7: 130,584,009 (GRCm39) M388K possibly damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Jag2 C T 12: 112,878,934 (GRCm39) E496K probably damaging Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Khdc1c A G 1: 21,439,833 (GRCm39) N128S probably benign Het
Lamc1 T C 1: 153,119,132 (GRCm39) N829S probably benign Het
Leprotl1 T C 8: 34,606,189 (GRCm39) Y33C probably damaging Het
Lypd11 A T 7: 24,423,047 (GRCm39) D90E probably benign Het
Map3k3 T A 11: 106,014,618 (GRCm39) S130T probably benign Het
Mip C T 10: 128,061,854 (GRCm39) A35V probably benign Het
Ms4a19 T C 19: 11,118,921 (GRCm39) T63A possibly damaging Het
Myh15 A G 16: 48,952,512 (GRCm39) R861G probably damaging Het
Myom1 A C 17: 71,384,762 (GRCm39) I718L possibly damaging Het
Naip6 C T 13: 100,452,983 (GRCm39) R26H probably benign Het
Or52e4 G A 7: 104,706,179 (GRCm39) C242Y probably damaging Het
Pde6b A G 5: 108,578,534 (GRCm39) E824G probably benign Het
Pramel24 T A 4: 143,453,678 (GRCm39) I262N possibly damaging Het
Rbm19 T G 5: 120,268,799 (GRCm39) S476A possibly damaging Het
Rpl39l T A 16: 9,992,162 (GRCm39) probably null Het
Sec24b A G 3: 129,834,554 (GRCm39) S79P probably benign Het
Slc15a2 G A 16: 36,594,935 (GRCm39) A146V probably damaging Het
Smc4 T A 3: 68,933,259 (GRCm39) C652S probably damaging Het
Stab1 A G 14: 30,869,231 (GRCm39) I1499T probably damaging Het
Tnnt1 A G 7: 4,510,594 (GRCm39) L209P probably damaging Het
Trim52 T G 14: 106,344,973 (GRCm39) S210R probably benign Het
Tsc22d1 T A 14: 76,656,039 (GRCm39) N82K possibly damaging Het
Wdr75 T C 1: 45,856,470 (GRCm39) Y498H probably benign Het
Zfp955a C T 17: 33,462,726 (GRCm39) S56N 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
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'- TGCTCCTACCTCACCGCCAA -3'
(R):5'- GCTCCCTGTGAAgtggagatgagaac -3'

Sequencing Primer
(F):5'- TCTGAATCCTCTTGTACTGGAAG -3'
(R):5'- cttacatttccacatcactgtttatc -3'
Posted On 2013-11-07