Incidental Mutation 'R5387:Slmap'
ID 425361
Institutional Source Beutler Lab
Gene Symbol Slmap
Ensembl Gene ENSMUSG00000021870
Gene Name sarcolemma associated protein
Synonyms Slap, D330001L02Rik, Miranda
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 26134323-26256086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26181088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 386 (E386G)
Ref Sequence ENSEMBL: ENSMUSP00000087836 (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: E386G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: E386G

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
AA Change: E386G

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: E386G

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: E386G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: E386G

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
AA Change: E386G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: E386G

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 unknown
Transcript: ENSMUST00000145738
AA Change: E55G
SMART Domains Protein: ENSMUSP00000117276
Gene: ENSMUSG00000021870
AA Change: E55G

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 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 probably benign
Transcript: ENSMUST00000146438
SMART Domains Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870

DomainStartEndE-ValueType
coiled coil region 17 142 N/A INTRINSIC
Meta Mutation Damage Score 0.1134 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,408,092 (GRCm39) S140T probably benign Het
Ahnak T C 19: 8,981,055 (GRCm39) S780P probably damaging Het
Ankhd1 C A 18: 36,767,697 (GRCm39) H1205N probably damaging Het
Ano1 T C 7: 144,202,356 (GRCm39) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm39) C114W probably damaging Het
Ascl1 C T 10: 87,328,551 (GRCm39) A134T probably damaging Het
Atl2 C T 17: 80,160,229 (GRCm39) E453K probably benign Het
Aup1 C T 6: 83,032,005 (GRCm39) A84V probably damaging Het
Btbd7 A T 12: 102,804,044 (GRCm39) M332K probably damaging Het
Cacna1d A G 14: 29,822,708 (GRCm39) V1107A probably damaging Het
Cd33 G A 7: 43,181,477 (GRCm39) Q114* probably null Het
Cdhr18 C A 14: 13,914,438 (GRCm38) M1I probably null Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Defb22 C A 2: 152,327,826 (GRCm39) A120S unknown Het
Dnah7b A G 1: 46,227,819 (GRCm39) I1347M probably damaging Het
Efcab5 A G 11: 77,025,668 (GRCm39) I549T possibly damaging Het
Esp15 T A 17: 39,955,468 (GRCm39) probably null Het
Fbxo7 A G 10: 85,860,518 (GRCm39) T42A probably benign Het
Filip1 A G 9: 79,725,556 (GRCm39) I1021T probably benign Het
Gad1 C A 2: 70,394,195 (GRCm39) S7* probably null Het
H2ac7 T A 13: 23,758,841 (GRCm39) probably null Het
H2-Q7 C T 17: 35,658,518 (GRCm39) T52M probably damaging Het
H2-T3 C T 17: 36,497,594 (GRCm39) G28R probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift81 A G 5: 122,693,598 (GRCm39) Y604H probably damaging Het
Igsf11 A G 16: 38,842,785 (GRCm39) Y154C probably damaging Het
Kif26b G T 1: 178,742,441 (GRCm39) A846S probably benign Het
Lnx2 G A 5: 146,964,964 (GRCm39) P420S probably benign Het
Lrit2 A G 14: 36,794,216 (GRCm39) T427A probably damaging Het
Lrrc43 G T 5: 123,637,734 (GRCm39) probably null Het
Mettl25b A T 3: 87,837,318 (GRCm39) probably benign Het
Mug1 T C 6: 121,861,353 (GRCm39) Y1325H probably damaging Het
Naglu A T 11: 100,967,550 (GRCm39) Y500F probably damaging Het
Npy4r A G 14: 33,868,940 (GRCm39) M116T probably benign Het
Nrdc A G 4: 108,896,959 (GRCm39) Y526C probably damaging Het
Nrp2 T C 1: 62,801,972 (GRCm39) S472P probably benign Het
Or12d2 T A 17: 37,625,183 (GRCm39) T31S probably benign Het
Or12k8 T C 2: 36,975,731 (GRCm39) T10A possibly damaging Het
Otogl T A 10: 107,616,794 (GRCm39) T1828S probably benign Het
Pank2 C T 2: 131,116,182 (GRCm39) T200I probably benign Het
Pbrm1 A G 14: 30,804,567 (GRCm39) Y946C probably damaging Het
Pde12 A T 14: 26,387,608 (GRCm39) S437T probably benign Het
Pikfyve A G 1: 65,304,427 (GRCm39) K1710E possibly damaging Het
Plcd3 A G 11: 102,969,281 (GRCm39) S229P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkaa2 C A 4: 104,897,374 (GRCm39) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,321,303 (GRCm39) S620P probably damaging Het
Rab33b A G 3: 51,400,876 (GRCm39) T117A probably damaging Het
Rasal2 T C 1: 156,985,335 (GRCm39) D804G possibly damaging Het
Rbp3 A G 14: 33,678,370 (GRCm39) T773A possibly damaging Het
Rspry1 A G 8: 95,364,914 (GRCm39) T185A possibly damaging Het
Sec61a2 G T 2: 5,887,356 (GRCm39) probably benign Het
Setx C T 2: 29,037,606 (GRCm39) R1364C probably benign Het
Shtn1 G T 19: 59,026,801 (GRCm39) L97M probably damaging Het
Slc35f1 T C 10: 52,984,260 (GRCm39) L340P probably damaging Het
Slc45a1 T A 4: 150,728,366 (GRCm39) probably benign Het
Smc2 C T 4: 52,475,096 (GRCm39) A924V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Tecta G A 9: 42,286,359 (GRCm39) L766F probably damaging Het
Tle3 C T 9: 61,314,771 (GRCm39) probably null Het
Top3a A G 11: 60,653,316 (GRCm39) F53L probably damaging Het
Trappc2b A T 11: 51,576,801 (GRCm39) D32E probably benign Het
Trem1 T C 17: 48,548,541 (GRCm39) I26T possibly damaging Het
Ttc7b G T 12: 100,413,222 (GRCm39) Q199K possibly damaging Het
Ubap2l T C 3: 89,913,903 (GRCm39) Y975C probably benign Het
Ubxn11 C A 4: 133,850,737 (GRCm39) D196E probably damaging Het
Unc80 A G 1: 66,569,180 (GRCm39) H945R possibly damaging Het
Usp15 A G 10: 122,967,191 (GRCm39) I405T probably damaging Het
Uty C T Y: 1,189,339 (GRCm39) E138K probably damaging Het
Wapl A G 14: 34,399,252 (GRCm39) E107G probably benign Het
Wbp1l T C 19: 46,632,896 (GRCm39) probably null Het
Zfp184 T G 13: 22,133,810 (GRCm39) probably benign Het
Zfp36 A C 7: 28,077,293 (GRCm39) L205R 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
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'- CCACTGGTGGCAATCATGAG -3'
(R):5'- CCTATGCAACAGGTAGCAGAG -3'

Sequencing Primer
(F):5'- GTGGCAATCATGAGTACTATAAAAGG -3'
(R):5'- AGAGCTCCAGGCAAAAATCG -3'
Posted On 2016-08-04