Incidental Mutation 'R1721:Slmap'
ID 191493
Institutional Source Beutler Lab
Gene Symbol Slmap
Ensembl Gene ENSMUSG00000021870
Gene Name sarcolemma associated protein
Synonyms Slap, D330001L02Rik, Miranda
MMRRC Submission 039753-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1721 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 26134323-26256086 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 26181373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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

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 benign
Transcript: ENSMUST00000090359
SMART Domains Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870

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 benign
Transcript: ENSMUST00000102956
SMART Domains Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870

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 benign
Transcript: ENSMUST00000112330
SMART Domains Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870

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 benign
Transcript: ENSMUST00000112331
SMART Domains Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870

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 benign
Transcript: ENSMUST00000139075
SMART Domains Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870

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 probably benign
Transcript: ENSMUST00000142679
SMART Domains Protein: ENSMUSP00000123072
Gene: ENSMUSG00000021870

DomainStartEndE-ValueType
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 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
Predicted Effect probably benign
Transcript: ENSMUST00000145738
SMART Domains Protein: ENSMUSP00000117276
Gene: ENSMUSG00000021870

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (87/88)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,901,995 (GRCm39) V559E probably benign Het
Adamts20 A G 15: 94,236,340 (GRCm39) F844L probably benign Het
Adcy5 C A 16: 35,118,794 (GRCm39) D1048E probably damaging Het
Agrn A T 4: 156,259,630 (GRCm39) C768* probably null Het
Aldh18a1 G T 19: 40,553,282 (GRCm39) Q487K probably damaging Het
Aldh3b1 G A 19: 3,971,271 (GRCm39) probably benign Het
Asb18 T G 1: 89,896,302 (GRCm39) D246A probably benign Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
Bcl2l15 A G 3: 103,745,914 (GRCm39) probably null Het
Brd10 A T 19: 29,720,998 (GRCm39) S743T probably damaging Het
Cage1 T A 13: 38,207,309 (GRCm39) K285* probably null Het
Ccn2 A C 10: 24,472,695 (GRCm39) T202P probably damaging Het
Cldn17 A G 16: 88,303,444 (GRCm39) L95P probably damaging Het
Cldn20 A T 17: 3,583,157 (GRCm39) D110V probably damaging Het
Cnot10 T C 9: 114,444,067 (GRCm39) T443A probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Col23a1 T C 11: 51,418,716 (GRCm39) Y135H unknown Het
Cse1l T C 2: 166,768,331 (GRCm39) S210P probably damaging Het
Cspg4 T G 9: 56,796,027 (GRCm39) V1254G probably damaging Het
Dip2c A G 13: 9,709,404 (GRCm39) T1415A probably damaging Het
Epc2 A G 2: 49,422,117 (GRCm39) Y337C probably damaging Het
Epha2 A G 4: 141,049,963 (GRCm39) S799G probably damaging Het
Fndc10 A G 4: 155,779,355 (GRCm39) Y133C probably damaging Het
Gli3 G T 13: 15,900,882 (GRCm39) S1423I probably benign Het
Gm6034 A T 17: 36,354,045 (GRCm39) probably benign Het
Gmip A G 8: 70,263,882 (GRCm39) S109G probably damaging Het
Grik2 C A 10: 49,399,842 (GRCm39) W296L possibly damaging Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Il6 T A 5: 30,218,490 (GRCm39) Y46N possibly damaging Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Itga9 A G 9: 118,527,374 (GRCm39) probably benign Het
Kcna7 T C 7: 45,056,345 (GRCm39) V187A possibly damaging Het
Kdm5b G T 1: 134,540,919 (GRCm39) probably benign Het
Knl1 T G 2: 118,906,815 (GRCm39) S1635A probably damaging Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lox T G 18: 52,653,983 (GRCm39) probably null Het
Mdc1 A G 17: 36,158,718 (GRCm39) D366G possibly damaging Het
Meiob T C 17: 25,053,021 (GRCm39) C344R probably damaging Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Mon2 A T 10: 122,867,002 (GRCm39) M551K probably damaging Het
Mrps15 A G 4: 125,945,187 (GRCm39) T125A probably benign Het
Mtmr14 A G 6: 113,230,693 (GRCm39) H99R probably damaging Het
Mup4 A G 4: 59,960,598 (GRCm39) M1T probably null Het
Mup5 G A 4: 61,750,607 (GRCm39) R179* probably null Het
Ncoa3 T G 2: 165,911,221 (GRCm39) V1326G possibly damaging Het
Noa1 A T 5: 77,455,428 (GRCm39) N429K probably benign Het
Nrxn1 C T 17: 90,469,832 (GRCm39) A241T probably damaging Het
Or1p1 A T 11: 74,180,126 (GRCm39) Y218F probably damaging Het
Or2t49 C T 11: 58,392,765 (GRCm39) V206M probably damaging Het
Pcdh9 G A 14: 94,125,471 (GRCm39) S233L probably damaging Het
Peg3 C A 7: 6,712,900 (GRCm39) S774I possibly damaging Het
Phyh A G 2: 4,942,620 (GRCm39) K321R probably null Het
Plcg1 T A 2: 160,573,840 (GRCm39) M35K probably damaging Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Ppargc1b T A 18: 61,440,275 (GRCm39) probably null Het
Prcd A C 11: 116,548,371 (GRCm39) S27R probably benign Het
Prx T A 7: 27,216,948 (GRCm39) M622K probably benign Het
Psmd1 T A 1: 85,999,567 (GRCm39) D51E probably damaging Het
Psmd13 C T 7: 140,463,430 (GRCm39) T38I probably damaging Het
Ptprf A C 4: 118,082,096 (GRCm39) D1047E possibly damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Riiad1 G A 3: 94,380,176 (GRCm39) P40S possibly damaging Het
Rnft1 T A 11: 86,377,096 (GRCm39) N53K probably benign Het
Scn4a C T 11: 106,211,646 (GRCm39) R1457H probably benign Het
Sema6c A T 3: 95,078,099 (GRCm39) I492F probably damaging Het
Shbg T C 11: 69,505,798 (GRCm39) H403R probably damaging Het
Slc15a5 A T 6: 138,049,845 (GRCm39) probably benign Het
Slc38a1 G A 15: 96,485,016 (GRCm39) T221M probably damaging Het
Slc6a16 T A 7: 44,910,600 (GRCm39) V375E possibly damaging Het
Slc6a17 T A 3: 107,379,492 (GRCm39) M559L probably damaging Het
Sorcs2 G A 5: 36,184,092 (GRCm39) R965W probably damaging Het
St8sia4 C A 1: 95,581,394 (GRCm39) R116L probably damaging Het
Tcaf1 A C 6: 42,652,272 (GRCm39) S737A possibly damaging Het
Thbs2 T A 17: 14,899,072 (GRCm39) Y676F probably benign Het
Tmod2 A G 9: 75,493,324 (GRCm39) probably benign Het
Trim75 T C 8: 65,435,391 (GRCm39) probably null Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Usp54 A T 14: 20,633,508 (GRCm39) Y37* probably null Het
Vill T C 9: 118,895,082 (GRCm39) F100S probably damaging Het
Vstm5 A G 9: 15,168,663 (GRCm39) R76G probably benign Het
Zfp608 T C 18: 55,032,321 (GRCm39) T540A probably benign Het
Zfp947 A C 17: 22,365,184 (GRCm39) N163K probably benign Het
Zfyve26 T C 12: 79,308,573 (GRCm39) H228R possibly damaging 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
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'- TGCAGAGCTGTCAGCCTTTCATTG -3'
(R):5'- TTTATCAGCGAAGCCAGGGCATATC -3'

Sequencing Primer
(F):5'- CATTGGTGAAGTCGTTATCAGC -3'
(R):5'- CTCACTGAAGTTCTCAGAGAGGTC -3'
Posted On 2014-05-14