Incidental Mutation 'R7320:Slmap'
ID 568164
Institutional Source Beutler Lab
Gene Symbol Slmap
Ensembl Gene ENSMUSG00000021870
Gene Name sarcolemma associated protein
Synonyms Slap, D330001L02Rik, Miranda
MMRRC Submission 045370-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 26134323-26256086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26181227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 369 (F369L)
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: F369L

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: F369L

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: F369L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: F369L

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
AA Change: F369L

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: F369L

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: ENSMUST00000112330
AA Change: F369L

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: F369L

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 possibly damaging
Transcript: ENSMUST00000112331
AA Change: F248L

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: F248L

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 possibly damaging
Transcript: ENSMUST00000139075
AA Change: F369L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: F369L

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
SMART Domains Protein: ENSMUSP00000123072
Gene: ENSMUSG00000021870
AA Change: F34L

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
SMART Domains Protein: ENSMUSP00000117276
Gene: ENSMUSG00000021870
AA Change: F38L

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
Predicted Effect
SMART Domains Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870
AA Change: F132L

DomainStartEndE-ValueType
coiled coil region 17 142 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,258,471 (GRCm39) I458T probably benign Het
Adam29 A G 8: 56,325,749 (GRCm39) I235T possibly damaging Het
Afap1 G A 5: 36,105,567 (GRCm39) V174I probably damaging Het
Ak8 A T 2: 28,703,004 (GRCm39) D456V probably damaging Het
Alb T C 5: 90,612,846 (GRCm39) probably null Het
Alox12 C T 11: 70,145,298 (GRCm39) A92T probably benign Het
Arhgap23 T C 11: 97,342,371 (GRCm39) S218P probably benign Het
Blm G A 7: 80,105,102 (GRCm39) Q1389* probably null Het
C1ql4 A T 15: 98,985,605 (GRCm39) V2E unknown Het
Casp12 A G 9: 5,348,897 (GRCm39) probably null Het
Ccdc73 A T 2: 104,829,521 (GRCm39) I1065F possibly damaging Het
Ccdc83 C T 7: 89,873,242 (GRCm39) G371D probably damaging Het
Cfap65 A G 1: 74,965,763 (GRCm39) S416P probably damaging Het
Cftr T A 6: 18,319,012 (GRCm39) C1351S probably damaging Het
Clcn4 A T 7: 7,294,827 (GRCm39) H311Q probably benign Het
Cldn13 T G 5: 134,943,874 (GRCm39) I104L probably benign Het
Cul9 A G 17: 46,821,835 (GRCm39) V1880A possibly damaging Het
Ddx17 A T 15: 79,416,105 (GRCm39) D407E probably damaging Het
Ddx28 G A 8: 106,737,957 (GRCm39) P34S probably damaging Het
Dnah5 A T 15: 28,270,616 (GRCm39) N973Y probably null Het
Dnai4 A T 4: 102,907,384 (GRCm39) I634N possibly damaging Het
Dock10 A G 1: 80,527,421 (GRCm39) probably null Het
Dock3 T C 9: 106,772,723 (GRCm39) D510G probably benign Het
Dst T A 1: 34,230,175 (GRCm39) D2589E probably benign Het
E2f7 T C 10: 110,599,991 (GRCm39) Y249H not run Het
Eef2kmt T C 16: 5,068,373 (GRCm39) Y69C possibly damaging Het
Elapor1 T A 3: 108,371,619 (GRCm39) K650* probably null Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Exog G T 9: 119,291,544 (GRCm39) V274L possibly damaging Het
Fam83e G A 7: 45,371,896 (GRCm39) V98M probably benign Het
Fras1 C T 5: 96,857,745 (GRCm39) T2013I probably benign Het
Gart G T 16: 91,418,569 (GRCm39) A970E probably benign Het
Gga2 T A 7: 121,601,326 (GRCm39) H259L probably benign Het
Glis3 C A 19: 28,508,998 (GRCm39) V329F probably damaging Het
Gm6356 T A 14: 6,972,923 (GRCm38) N53I probably damaging Het
Golgb1 C A 16: 36,736,313 (GRCm39) C1894* probably null Het
Ifi203 T C 1: 173,756,733 (GRCm39) N350S unknown Het
Isy1 T A 6: 87,810,688 (GRCm39) R55S unknown Het
Itsn1 A T 16: 91,636,587 (GRCm39) D678V unknown Het
Lhcgr T A 17: 89,049,506 (GRCm39) R673S probably benign Het
Lnx2 C A 5: 146,956,943 (GRCm39) R601L possibly damaging Het
Map4 A G 9: 109,910,585 (GRCm39) T1093A probably benign Het
Minar1 A G 9: 89,483,679 (GRCm39) S573P probably benign Het
Mink1 A G 11: 70,489,899 (GRCm39) K92E probably benign Het
Moxd1 A G 10: 24,177,363 (GRCm39) I560V probably benign Het
Mrc2 C A 11: 105,220,061 (GRCm39) D327E possibly damaging Het
Notch2 A G 3: 98,038,643 (GRCm39) E1262G possibly damaging Het
Or2g1 T A 17: 38,107,248 (GRCm39) N304K probably benign Het
Or4k48 A G 2: 111,476,297 (GRCm39) L15S probably benign Het
Or52d3 C A 7: 104,229,645 (GRCm39) S264* probably null Het
Or5an1 G A 19: 12,261,180 (GRCm39) G256D possibly damaging Het
Or5b120 T A 19: 13,480,544 (GRCm39) M279K possibly damaging Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Or5m13 A T 2: 85,748,718 (GRCm39) I150F probably benign Het
Or6c5b A T 10: 129,245,654 (GRCm39) T140S possibly damaging Het
Pcbp2 T A 15: 102,381,782 (GRCm39) V5E probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pgghg A T 7: 140,522,953 (GRCm39) Y104F probably benign Het
Plscr2 T C 9: 92,173,193 (GRCm39) probably null Het
Ppfibp1 C T 6: 146,879,551 (GRCm39) A25V probably damaging Het
Ptgfr C T 3: 151,541,034 (GRCm39) G158D probably benign Het
Ptgs2 T C 1: 149,978,446 (GRCm39) F186S probably damaging Het
Ptpn14 A G 1: 189,564,956 (GRCm39) E181G probably benign Het
Rpgrip1 A G 14: 52,368,673 (GRCm39) K291E possibly damaging Het
Rtn4rl1 T C 11: 75,085,122 (GRCm39) probably null Het
Sema3b T A 9: 107,478,141 (GRCm39) M415L probably benign Het
Sh3bp4 A G 1: 89,073,216 (GRCm39) E688G probably damaging Het
Slco6c1 G A 1: 97,055,887 (GRCm39) R5C possibly damaging Het
Sphk2 T C 7: 45,361,894 (GRCm39) N181S possibly damaging Het
Sqor A G 2: 122,641,730 (GRCm39) T235A probably benign Het
St13 A G 15: 81,273,854 (GRCm39) L80P probably damaging Het
St3gal6 A G 16: 58,314,074 (GRCm39) Y20H probably benign Het
Sun1 T G 5: 139,234,239 (GRCm39) Y899D probably damaging Het
Synm C T 7: 67,385,128 (GRCm39) E845K possibly damaging Het
Tg A T 15: 66,566,633 (GRCm39) D1227V possibly damaging Het
Thbs1 A G 2: 117,945,438 (GRCm39) N306D possibly damaging Het
Tmcc3 A T 10: 94,414,357 (GRCm39) N51Y possibly damaging Het
Usp4 A G 9: 108,265,505 (GRCm39) D856G probably benign Het
Vil1 G A 1: 74,457,603 (GRCm39) A79T probably damaging Het
Vmn1r119 T A 7: 20,746,271 (GRCm39) H37L probably damaging Het
Vmn2r110 A T 17: 20,816,316 (GRCm39) M69K probably benign Het
Ywhaq A G 12: 21,444,982 (GRCm39) L221P probably damaging Het
Zfp142 G A 1: 74,609,167 (GRCm39) Q1543* probably null Het
Zfp384 T A 6: 125,001,793 (GRCm39) M146K 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
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
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'- GTGACACCTACCTAAGCTGC -3'
(R):5'- AAATGAATGGGGTCAGTTCTGG -3'

Sequencing Primer
(F):5'- ACCTAAGCTGCTGCATTCTTTAAGG -3'
(R):5'- CTGGCTTTCAGCTAGCTAAAGCAAG -3'
Posted On 2019-06-26