Incidental Mutation 'R9695:Slmap'
ID |
729241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slmap
|
Ensembl Gene |
ENSMUSG00000021870 |
Gene Name |
sarcolemma associated protein |
Synonyms |
Slap, D330001L02Rik, Miranda |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9695 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26183496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 296
(T296S)
|
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: T296S
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000046956 Gene: ENSMUSG00000021870 AA Change: T296S
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 |
possibly damaging
Transcript: ENSMUST00000090359
AA Change: T296S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000087836 Gene: ENSMUSG00000021870 AA Change: T296S
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
AA Change: T296S
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000100021 Gene: ENSMUSG00000021870 AA Change: T296S
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
AA Change: T296S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000107949 Gene: ENSMUSG00000021870 AA Change: T296S
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
AA Change: T175S
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107950 Gene: ENSMUSG00000021870 AA Change: T175S
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 damaging
Transcript: ENSMUST00000139075
AA Change: T296S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117816 Gene: ENSMUSG00000021870 AA Change: T296S
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 |
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 |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000123344 Gene: ENSMUSG00000021870 AA Change: T59S
Domain | Start | End | E-Value | Type |
coiled coil region
|
17 |
142 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
T |
C |
19: 57,170,739 (GRCm39) |
T1A |
|
Het |
Adgrl1 |
G |
A |
8: 84,665,060 (GRCm39) |
R1249Q |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,963,483 (GRCm39) |
R580C |
probably damaging |
Het |
Armc12 |
T |
A |
17: 28,749,993 (GRCm39) |
C46S |
probably benign |
Het |
Avpr1a |
C |
T |
10: 122,284,845 (GRCm39) |
R46C |
probably damaging |
Het |
Cbln4 |
C |
G |
2: 171,879,469 (GRCm39) |
G140R |
probably damaging |
Het |
Ccdc89 |
A |
G |
7: 90,076,552 (GRCm39) |
N254S |
probably benign |
Het |
Cd96 |
T |
A |
16: 45,919,410 (GRCm39) |
I204F |
probably damaging |
Het |
Cel |
G |
T |
2: 28,450,961 (GRCm39) |
L101I |
probably damaging |
Het |
Crtap |
A |
T |
9: 114,215,378 (GRCm39) |
Y170* |
probably null |
Het |
Ctxn3 |
A |
G |
18: 57,610,185 (GRCm39) |
M1V |
probably null |
Het |
Cwf19l1 |
G |
T |
19: 44,101,425 (GRCm39) |
H478N |
probably damaging |
Het |
Dpysl3 |
A |
T |
18: 43,571,192 (GRCm39) |
D27E |
probably damaging |
Het |
Dsg1b |
A |
G |
18: 20,532,389 (GRCm39) |
T478A |
probably damaging |
Het |
Dvl2 |
G |
A |
11: 69,899,976 (GRCm39) |
R590Q |
possibly damaging |
Het |
Elovl7 |
C |
A |
13: 108,416,242 (GRCm39) |
Q211K |
probably damaging |
Het |
Fech |
A |
G |
18: 64,600,803 (GRCm39) |
I233T |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,806,226 (GRCm39) |
Q848H |
probably benign |
Het |
Gna15 |
A |
G |
10: 81,359,752 (GRCm39) |
C13R |
probably damaging |
Het |
Gstt4 |
A |
T |
10: 75,657,072 (GRCm39) |
S65T |
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,438,624 (GRCm39) |
V1353A |
probably damaging |
Het |
Hip1r |
A |
T |
5: 124,139,916 (GRCm39) |
K1006N |
possibly damaging |
Het |
Hspg2 |
T |
A |
4: 137,265,701 (GRCm39) |
V1804E |
probably damaging |
Het |
Ifi206 |
T |
C |
1: 173,301,249 (GRCm39) |
T810A |
unknown |
Het |
Ighv1-69 |
T |
C |
12: 115,586,987 (GRCm39) |
T49A |
probably benign |
Het |
Il4i1 |
A |
T |
7: 44,489,033 (GRCm39) |
D266V |
probably damaging |
Het |
Itga3 |
A |
T |
11: 94,946,520 (GRCm39) |
|
probably null |
Het |
Itpr1 |
A |
G |
6: 108,378,311 (GRCm39) |
N1279S |
probably damaging |
Het |
Madd |
T |
C |
2: 90,992,929 (GRCm39) |
T997A |
probably benign |
Het |
Mal |
C |
T |
2: 127,482,308 (GRCm39) |
V32I |
probably benign |
Het |
Map9 |
T |
A |
3: 82,284,292 (GRCm39) |
S289T |
probably benign |
Het |
Mmp15 |
G |
T |
8: 96,097,414 (GRCm39) |
R461L |
possibly damaging |
Het |
Nelfcd |
T |
A |
2: 174,266,923 (GRCm39) |
I395N |
probably benign |
Het |
Neurog2 |
T |
A |
3: 127,427,694 (GRCm39) |
V106E |
probably damaging |
Het |
Nup160 |
T |
A |
2: 90,538,486 (GRCm39) |
N761K |
probably damaging |
Het |
Oasl1 |
G |
A |
5: 115,074,054 (GRCm39) |
R321Q |
probably damaging |
Het |
Oosp2 |
T |
C |
19: 11,628,994 (GRCm39) |
T36A |
|
Het |
Or2a52 |
A |
T |
6: 43,144,510 (GRCm39) |
I173L |
probably benign |
Het |
Or7g22 |
A |
G |
9: 19,049,171 (GRCm39) |
N294S |
probably damaging |
Het |
Or8k30 |
T |
C |
2: 86,339,100 (GRCm39) |
V99A |
probably benign |
Het |
Or9s27 |
A |
G |
1: 92,516,595 (GRCm39) |
D181G |
probably benign |
Het |
Otx2 |
T |
G |
14: 48,899,952 (GRCm39) |
S16R |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,349,908 (GRCm39) |
S39P |
unknown |
Het |
Piwil2 |
A |
G |
14: 70,627,349 (GRCm39) |
Y797H |
possibly damaging |
Het |
Plxna4 |
T |
G |
6: 32,183,056 (GRCm39) |
Y949S |
probably benign |
Het |
Prss35 |
A |
G |
9: 86,637,761 (GRCm39) |
Y177C |
probably damaging |
Het |
Rbm19 |
T |
C |
5: 120,335,986 (GRCm39) |
I934T |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,816,010 (GRCm39) |
V1094G |
probably benign |
Het |
Riok1 |
A |
G |
13: 38,242,676 (GRCm39) |
T467A |
possibly damaging |
Het |
Slc15a4 |
G |
A |
5: 127,694,400 (GRCm39) |
R12W |
possibly damaging |
Het |
Slc44a5 |
T |
A |
3: 153,956,588 (GRCm39) |
I280K |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,368,026 (GRCm39) |
L205S |
probably benign |
Het |
Slco2a1 |
A |
G |
9: 102,962,139 (GRCm39) |
R604G |
possibly damaging |
Het |
Snrk |
T |
C |
9: 121,995,640 (GRCm39) |
V473A |
probably benign |
Het |
Spart |
A |
G |
3: 55,033,955 (GRCm39) |
T394A |
probably benign |
Het |
Stil |
T |
C |
4: 114,881,378 (GRCm39) |
S641P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,268,461 (GRCm39) |
V2076A |
probably benign |
Het |
Tcirg1 |
G |
A |
19: 3,952,360 (GRCm39) |
A336V |
probably null |
Het |
Tespa1 |
T |
C |
10: 130,198,285 (GRCm39) |
S436P |
probably benign |
Het |
Thumpd3 |
G |
T |
6: 113,024,622 (GRCm39) |
R72L |
possibly damaging |
Het |
Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
Vars1 |
A |
G |
17: 35,231,564 (GRCm39) |
D696G |
possibly damaging |
Het |
Vwa5b2 |
A |
T |
16: 20,422,975 (GRCm39) |
H991L |
probably benign |
Het |
Zfp160 |
A |
G |
17: 21,245,746 (GRCm39) |
K99E |
possibly damaging |
Het |
Zfp759 |
G |
A |
13: 67,287,198 (GRCm39) |
V250I |
possibly damaging |
Het |
Zmym6 |
T |
C |
4: 127,016,340 (GRCm39) |
V707A |
probably benign |
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 |
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 |
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'- TGCGTCTAGTGGTTGACATAGAAG -3'
(R):5'- GTTGATGTAGACTAGTTCAGAACTAC -3'
Sequencing Primer
(F):5'- GGCTGGATTAAGAATGTCCCTCAC -3'
(R):5'- GAATTCCCTGTGAACTTGC -3'
|
Posted On |
2022-10-06 |