Incidental Mutation 'IGL02402:Slmap'
| ID |
291900 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slmap
|
| Ensembl Gene |
ENSMUSG00000021870 |
| Gene Name |
sarcolemma associated protein |
| Synonyms |
Slap, D330001L02Rik, Miranda |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26184865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 111
(T111A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107950
(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: T232A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: T232A
| 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: T232A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: T232A
| 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: T232A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: T232A
| 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: ENSMUST00000112330
AA Change: T232A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: T232A
| 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: T111A
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: T111A
| 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: T232A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: T232A
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,707,543 (GRCm39) |
F568L |
probably benign |
Het |
| AW112010 |
T |
A |
19: 11,025,741 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs4 |
A |
T |
9: 59,237,729 (GRCm39) |
L205H |
probably benign |
Het |
| Bmal2 |
T |
C |
6: 146,711,266 (GRCm39) |
V90A |
possibly damaging |
Het |
| C2cd2l |
T |
C |
9: 44,227,878 (GRCm39) |
K121R |
probably benign |
Het |
| Car14 |
A |
G |
3: 95,806,870 (GRCm39) |
V198A |
possibly damaging |
Het |
| Cd22 |
G |
T |
7: 30,576,955 (GRCm39) |
H117Q |
possibly damaging |
Het |
| Celf1 |
T |
A |
2: 90,829,068 (GRCm39) |
I45N |
probably damaging |
Het |
| Cluh |
T |
C |
11: 74,547,997 (GRCm39) |
S103P |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 44,002,613 (GRCm39) |
L276Q |
probably benign |
Het |
| Ddx27 |
T |
G |
2: 166,857,245 (GRCm39) |
|
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,279 (GRCm39) |
I49F |
possibly damaging |
Het |
| Dock8 |
C |
A |
19: 25,055,509 (GRCm39) |
T157K |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,839,541 (GRCm39) |
V352A |
probably damaging |
Het |
| Elmo2 |
C |
T |
2: 165,139,312 (GRCm39) |
E412K |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,733 (GRCm39) |
P30S |
possibly damaging |
Het |
| Espnl |
G |
T |
1: 91,272,535 (GRCm39) |
A632S |
probably benign |
Het |
| Gfod1 |
C |
A |
13: 43,354,211 (GRCm39) |
A255S |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,872,704 (GRCm39) |
K2432M |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,827,657 (GRCm39) |
L157P |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,555,159 (GRCm39) |
D848V |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,927,858 (GRCm39) |
S851N |
possibly damaging |
Het |
| Kat6b |
T |
A |
14: 21,681,415 (GRCm39) |
F571I |
probably damaging |
Het |
| Lrrc74b |
G |
A |
16: 17,376,028 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,794,026 (GRCm39) |
K1160E |
probably damaging |
Het |
| Muc19 |
C |
A |
15: 91,778,192 (GRCm39) |
|
noncoding transcript |
Het |
| Nrg4 |
G |
A |
9: 55,135,198 (GRCm39) |
|
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,458,037 (GRCm39) |
I12T |
possibly damaging |
Het |
| Or1o3 |
A |
G |
17: 37,574,111 (GRCm39) |
V148A |
possibly damaging |
Het |
| Pold3 |
A |
G |
7: 99,749,618 (GRCm39) |
|
probably benign |
Het |
| Psmd5 |
T |
C |
2: 34,747,784 (GRCm39) |
E291G |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,222,781 (GRCm39) |
V92A |
possibly damaging |
Het |
| Rab44 |
T |
A |
17: 29,359,490 (GRCm39) |
H559Q |
probably benign |
Het |
| Rbm6 |
T |
C |
9: 107,730,051 (GRCm39) |
D199G |
probably damaging |
Het |
| Rps18-ps3 |
C |
T |
8: 107,989,754 (GRCm39) |
|
noncoding transcript |
Het |
| Septin10 |
T |
C |
10: 59,006,758 (GRCm39) |
T93A |
probably benign |
Het |
| Spata25 |
C |
T |
2: 164,670,377 (GRCm39) |
M1I |
probably null |
Het |
| Spink5 |
T |
A |
18: 44,100,171 (GRCm39) |
C63S |
probably damaging |
Het |
| Sycp3 |
T |
C |
10: 88,302,425 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,177,567 (GRCm39) |
|
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,891,716 (GRCm39) |
N940K |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,081,600 (GRCm39) |
Q169L |
possibly damaging |
Het |
| Trpm6 |
G |
T |
19: 18,764,120 (GRCm39) |
C242F |
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,999,305 (GRCm39) |
M205K |
probably benign |
Het |
| Utp18 |
A |
C |
11: 93,774,617 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slmap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation