Incidental Mutation 'R0963:Slmap'
ID |
81400 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slmap
|
Ensembl Gene |
ENSMUSG00000021870 |
Gene Name |
sarcolemma associated protein |
Synonyms |
Slap, D330001L02Rik, Miranda |
MMRRC Submission |
039092-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0963 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26189675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 161
(Y161C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038522]
[ENSMUST00000090359]
[ENSMUST00000102956]
[ENSMUST00000112330]
[ENSMUST00000112331]
[ENSMUST00000139075]
|
AlphaFold |
Q3URD3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038522
AA Change: Y161C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046956 Gene: ENSMUSG00000021870 AA Change: Y161C
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: Y161C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087836 Gene: ENSMUSG00000021870 AA Change: Y161C
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 damaging
Transcript: ENSMUST00000102956
AA Change: Y161C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100021 Gene: ENSMUSG00000021870 AA Change: Y161C
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 damaging
Transcript: ENSMUST00000112330
AA Change: Y161C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107949 Gene: ENSMUSG00000021870 AA Change: Y161C
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 damaging
Transcript: ENSMUST00000112331
AA Change: Y40C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107950 Gene: ENSMUSG00000021870 AA Change: Y40C
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: Y161C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117816 Gene: ENSMUSG00000021870 AA Change: Y161C
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 |
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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
G |
13: 8,722,451 (GRCm39) |
D369G |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,038,893 (GRCm39) |
V303A |
probably damaging |
Het |
Afap1l1 |
A |
T |
18: 61,870,001 (GRCm39) |
Y610N |
probably damaging |
Het |
Agr3 |
T |
A |
12: 35,984,433 (GRCm39) |
H53Q |
probably benign |
Het |
Akr1d1 |
A |
G |
6: 37,507,209 (GRCm39) |
I10M |
probably damaging |
Het |
Atp4b |
G |
T |
8: 13,440,014 (GRCm39) |
H111N |
probably benign |
Het |
Bbs7 |
G |
T |
3: 36,667,412 (GRCm39) |
A8E |
probably benign |
Het |
Bsn |
C |
T |
9: 107,989,006 (GRCm39) |
V2249M |
possibly damaging |
Het |
Cpt1a |
T |
C |
19: 3,431,634 (GRCm39) |
S685P |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,582,956 (GRCm39) |
H163Q |
probably benign |
Het |
Duox2 |
A |
C |
2: 122,117,653 (GRCm39) |
C894G |
probably benign |
Het |
Ecm1 |
T |
C |
3: 95,643,900 (GRCm39) |
T209A |
possibly damaging |
Het |
Glo1 |
T |
C |
17: 30,819,085 (GRCm39) |
N79S |
probably benign |
Het |
Htra1 |
T |
A |
7: 130,584,009 (GRCm39) |
M388K |
possibly damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Jag2 |
C |
T |
12: 112,878,934 (GRCm39) |
E496K |
probably damaging |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Khdc1c |
A |
G |
1: 21,439,833 (GRCm39) |
N128S |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,119,132 (GRCm39) |
N829S |
probably benign |
Het |
Leprotl1 |
T |
C |
8: 34,606,189 (GRCm39) |
Y33C |
probably damaging |
Het |
Lypd11 |
A |
T |
7: 24,423,047 (GRCm39) |
D90E |
probably benign |
Het |
Map3k3 |
T |
A |
11: 106,014,618 (GRCm39) |
S130T |
probably benign |
Het |
Mip |
C |
T |
10: 128,061,854 (GRCm39) |
A35V |
probably benign |
Het |
Ms4a19 |
T |
C |
19: 11,118,921 (GRCm39) |
T63A |
possibly damaging |
Het |
Myh15 |
A |
G |
16: 48,952,512 (GRCm39) |
R861G |
probably damaging |
Het |
Myom1 |
A |
C |
17: 71,384,762 (GRCm39) |
I718L |
possibly damaging |
Het |
Naip6 |
C |
T |
13: 100,452,983 (GRCm39) |
R26H |
probably benign |
Het |
Or52e4 |
G |
A |
7: 104,706,179 (GRCm39) |
C242Y |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,578,534 (GRCm39) |
E824G |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,453,678 (GRCm39) |
I262N |
possibly damaging |
Het |
Rbm19 |
T |
G |
5: 120,268,799 (GRCm39) |
S476A |
possibly damaging |
Het |
Rpl39l |
T |
A |
16: 9,992,162 (GRCm39) |
|
probably null |
Het |
Sec24b |
A |
G |
3: 129,834,554 (GRCm39) |
S79P |
probably benign |
Het |
Slc15a2 |
G |
A |
16: 36,594,935 (GRCm39) |
A146V |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,933,259 (GRCm39) |
C652S |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,869,231 (GRCm39) |
I1499T |
probably damaging |
Het |
Tnnt1 |
A |
G |
7: 4,510,594 (GRCm39) |
L209P |
probably damaging |
Het |
Trim52 |
T |
G |
14: 106,344,973 (GRCm39) |
S210R |
probably benign |
Het |
Tsc22d1 |
T |
A |
14: 76,656,039 (GRCm39) |
N82K |
possibly damaging |
Het |
Wdr75 |
T |
C |
1: 45,856,470 (GRCm39) |
Y498H |
probably benign |
Het |
Zfp955a |
C |
T |
17: 33,462,726 (GRCm39) |
S56N |
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 |
|
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 |
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'- TGCTCCTACCTCACCGCCAA -3'
(R):5'- GCTCCCTGTGAAgtggagatgagaac -3'
Sequencing Primer
(F):5'- TCTGAATCCTCTTGTACTGGAAG -3'
(R):5'- cttacatttccacatcactgtttatc -3'
|
Posted On |
2013-11-07 |