Incidental Mutation 'IGL02630:Slmap'
| ID |
301242 |
| 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 # |
IGL02630
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26143586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 750
(V750A)
|
| 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: V746A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: V746A
| 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: V750A
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: V750A
| 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: V746A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: V746A
| 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: V712A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: V712A
| 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: V612A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: V612A
| 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 |
noncoding transcript
Transcript: ENSMUST00000127078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136625
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139075
AA Change: V767A
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: V767A
| 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 |
unknown
Transcript: ENSMUST00000142679
AA Change: V357A
|
| SMART Domains |
Protein: ENSMUSP00000123072
Gene: ENSMUSG00000021870
AA Change: V357A
| 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 |
unknown
Transcript: ENSMUST00000145738
AA Change: V398A
|
| SMART Domains |
Protein: ENSMUSP00000117276
Gene: ENSMUSG00000021870
AA Change: V398A
| 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 |
noncoding transcript
Transcript: ENSMUST00000136635
|
| SMART Domains |
Protein: ENSMUSP00000114601
Gene: ENSMUSG00000021870
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
57 |
112 |
N/A |
INTRINSIC |
|
coiled coil region
|
139 |
271 |
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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,441 (GRCm39) |
V3575E |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,537,140 (GRCm39) |
|
probably benign |
Het |
| Arhgap23 |
A |
G |
11: 97,345,123 (GRCm39) |
T631A |
probably benign |
Het |
| Chka |
T |
A |
19: 3,942,112 (GRCm39) |
H355Q |
possibly damaging |
Het |
| Ctsj |
C |
T |
13: 61,149,214 (GRCm39) |
A277T |
probably damaging |
Het |
| Ddx49 |
T |
C |
8: 70,753,668 (GRCm39) |
D67G |
probably damaging |
Het |
| Dennd4b |
T |
C |
3: 90,180,284 (GRCm39) |
S716P |
probably benign |
Het |
| Enpp5 |
G |
T |
17: 44,393,766 (GRCm39) |
D321Y |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,205,253 (GRCm39) |
E17G |
probably benign |
Het |
| Fam161b |
G |
A |
12: 84,400,688 (GRCm39) |
P428L |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,872,586 (GRCm39) |
L256S |
probably damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,830,525 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
C |
T |
15: 77,831,362 (GRCm39) |
V484I |
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
| H3c1 |
C |
T |
13: 23,946,231 (GRCm39) |
V36M |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,795,456 (GRCm39) |
N271S |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,496 (GRCm39) |
D58G |
possibly damaging |
Het |
| Igkv4-80 |
A |
T |
6: 68,993,680 (GRCm39) |
Y70* |
probably null |
Het |
| Ivns1abp |
G |
A |
1: 151,235,386 (GRCm39) |
R218H |
probably damaging |
Het |
| Kng1 |
A |
T |
16: 22,898,595 (GRCm39) |
|
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
| Lgals12 |
T |
C |
19: 7,578,607 (GRCm39) |
|
probably benign |
Het |
| Lpar4 |
T |
A |
X: 105,974,817 (GRCm39) |
F334I |
probably benign |
Het |
| Muc5b |
G |
A |
7: 141,416,968 (GRCm39) |
G3305S |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,555,291 (GRCm39) |
D864G |
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,145,299 (GRCm39) |
E22G |
probably damaging |
Het |
| Nt5c2 |
T |
A |
19: 46,912,749 (GRCm39) |
M69L |
probably benign |
Het |
| Or52ab4 |
A |
C |
7: 102,987,636 (GRCm39) |
Y125S |
probably damaging |
Het |
| Or8k22 |
T |
C |
2: 86,163,212 (GRCm39) |
I163V |
probably benign |
Het |
| Pde12 |
A |
T |
14: 26,387,552 (GRCm39) |
H455Q |
probably damaging |
Het |
| Pdia6 |
A |
G |
12: 17,324,422 (GRCm39) |
H91R |
probably benign |
Het |
| Pdk4 |
A |
T |
6: 5,491,671 (GRCm39) |
I179K |
possibly damaging |
Het |
| Prl2c1 |
T |
C |
13: 28,041,480 (GRCm39) |
|
probably benign |
Het |
| Rasgrf2 |
C |
T |
13: 92,267,900 (GRCm39) |
E35K |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
| Secisbp2 |
C |
A |
13: 51,832,942 (GRCm39) |
T608K |
possibly damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,668,836 (GRCm39) |
Y532C |
probably damaging |
Het |
| Spaca6 |
T |
A |
17: 18,051,351 (GRCm39) |
L9Q |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,786,080 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,043,712 (GRCm39) |
D131E |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,659,404 (GRCm39) |
D176E |
probably damaging |
Het |
| Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,202,143 (GRCm39) |
V1590A |
possibly damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,758,994 (GRCm39) |
V289A |
possibly damaging |
Het |
| Ube2dnl1 |
T |
A |
X: 113,815,483 (GRCm39) |
C119* |
probably null |
Het |
| Vmn1r191 |
T |
A |
13: 22,363,431 (GRCm39) |
I108F |
possibly damaging |
Het |
| Zfp710 |
T |
A |
7: 79,731,789 (GRCm39) |
I322N |
probably 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 |
|
|
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