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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
coiled coil region
|
17 |
142 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145738
|
SMART Domains |
Protein: ENSMUSP00000117276 Gene: ENSMUSG00000021870
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |