Incidental Mutation 'R9039:Slmap'
| ID |
687631 |
| 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 # |
R9039 (G1)
|
| Quality Score |
205.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26254519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 54
(N54K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038522]
[ENSMUST00000090359]
[ENSMUST00000102956]
[ENSMUST00000112330]
[ENSMUST00000139075]
|
| AlphaFold |
Q3URD3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038522
AA Change: N54K
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: N54K
| 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
AA Change: N54K
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: N54K
| 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 |
possibly damaging
Transcript: ENSMUST00000102956
AA Change: N54K
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: N54K
| 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: N54K
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: N54K
| 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: ENSMUST00000139075
AA Change: N54K
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: N54K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,213,849 (GRCm39) |
V692A |
possibly damaging |
Het |
| Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,345,914 (GRCm39) |
I321T |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,645,730 (GRCm39) |
T821I |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,473,192 (GRCm39) |
L937P |
probably damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,919,767 (GRCm39) |
D45G |
probably benign |
Het |
| C8a |
C |
T |
4: 104,679,200 (GRCm39) |
R530H |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,016,057 (GRCm39) |
S694P |
probably benign |
Het |
| Cdca7 |
T |
A |
2: 72,312,856 (GRCm39) |
D162E |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,936,907 (GRCm39) |
Q600K |
probably benign |
Het |
| Cert1 |
C |
T |
13: 96,679,717 (GRCm39) |
P16S |
probably benign |
Het |
| Coq8b |
A |
C |
7: 26,950,011 (GRCm39) |
R363S |
probably benign |
Het |
| Cpne3 |
A |
T |
4: 19,540,770 (GRCm39) |
C202S |
probably damaging |
Het |
| Csmd3 |
G |
T |
15: 47,483,308 (GRCm39) |
|
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,344,461 (GRCm39) |
V468E |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,405,215 (GRCm39) |
D2442E |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,163,553 (GRCm39) |
Y49C |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,382,870 (GRCm39) |
R268G |
probably damaging |
Het |
| Eid3 |
C |
T |
10: 82,703,565 (GRCm39) |
S342L |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,528,671 (GRCm39) |
L296P |
possibly damaging |
Het |
| Fgfrl1 |
G |
C |
5: 108,853,439 (GRCm39) |
|
probably null |
Het |
| Flg2 |
A |
G |
3: 93,110,899 (GRCm39) |
R976G |
unknown |
Het |
| Fsip2 |
C |
A |
2: 82,828,545 (GRCm39) |
Q6781K |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,352,799 (GRCm39) |
H857Y |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,244,646 (GRCm39) |
V701E |
probably damaging |
Het |
| Il21 |
A |
T |
3: 37,286,602 (GRCm39) |
I38N |
probably benign |
Het |
| Ip6k2 |
G |
T |
9: 108,681,807 (GRCm39) |
G246V |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,758,185 (GRCm39) |
Q726R |
probably damaging |
Het |
| Itsn1 |
A |
T |
16: 91,703,658 (GRCm39) |
N1521Y |
unknown |
Het |
| Kif2b |
A |
G |
11: 91,467,131 (GRCm39) |
V384A |
possibly damaging |
Het |
| L3mbtl1 |
G |
T |
2: 162,807,988 (GRCm39) |
R541L |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,614,120 (GRCm39) |
C1296* |
probably null |
Het |
| Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
| Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
| Mmp27 |
C |
A |
9: 7,581,250 (GRCm39) |
F478L |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,155,251 (GRCm39) |
|
probably benign |
Het |
| Naaa |
T |
A |
5: 92,420,300 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,371,487 (GRCm39) |
Q1746L |
unknown |
Het |
| Nedd9 |
T |
C |
13: 41,471,984 (GRCm39) |
Y165C |
probably damaging |
Het |
| Neurod1 |
T |
C |
2: 79,284,720 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or2q1 |
A |
T |
6: 42,794,545 (GRCm39) |
I47F |
probably damaging |
Het |
| Or4c122 |
G |
T |
2: 89,079,545 (GRCm39) |
F152L |
probably benign |
Het |
| Or5al6 |
T |
C |
2: 85,976,625 (GRCm39) |
Y151C |
probably damaging |
Het |
| Or9m1 |
T |
C |
2: 87,733,907 (GRCm39) |
T38A |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,274,533 (GRCm39) |
N33D |
possibly damaging |
Het |
| Ppp1r3a |
G |
A |
6: 14,754,525 (GRCm39) |
P241S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,134,657 (GRCm39) |
T949A |
probably benign |
Het |
| Prdx6 |
A |
T |
1: 161,078,619 (GRCm39) |
I23N |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,280,003 (GRCm39) |
V334E |
probably benign |
Het |
| Prr12 |
A |
T |
7: 44,684,146 (GRCm39) |
D1631E |
probably damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,819,551 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
T |
G |
12: 8,794,430 (GRCm39) |
D773E |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,856,648 (GRCm39) |
C451R |
probably benign |
Het |
| Slc37a2 |
A |
G |
9: 37,148,658 (GRCm39) |
S275P |
probably benign |
Het |
| Susd4 |
A |
G |
1: 182,681,597 (GRCm39) |
D146G |
probably benign |
Het |
| Tekt3 |
G |
A |
11: 62,972,169 (GRCm39) |
R275H |
possibly damaging |
Het |
| Tkfc |
A |
G |
19: 10,573,612 (GRCm39) |
L242P |
probably damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,363,576 (GRCm39) |
L99I |
probably benign |
Het |
| Triqk |
A |
T |
4: 12,980,490 (GRCm39) |
D78V |
probably damaging |
Het |
| Trmo |
T |
C |
4: 46,382,322 (GRCm39) |
D258G |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,826,489 (GRCm39) |
V920A |
probably benign |
Het |
| Tspan17 |
C |
T |
13: 54,943,991 (GRCm39) |
Q257* |
probably null |
Het |
| Tube1 |
T |
A |
10: 39,011,017 (GRCm39) |
F45I |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,822 (GRCm39) |
T109A |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,367,902 (GRCm39) |
Y363* |
probably null |
Het |
| Zfp324 |
G |
T |
7: 12,705,455 (GRCm39) |
G548V |
probably benign |
Het |
| Zpld2 |
C |
A |
4: 133,922,858 (GRCm39) |
V492F |
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 |
|
|
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 |
|
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'- GTGTCCTCTGGGAAGAAACC -3'
(R):5'- GAAGAGCATTCCGAACCTGG -3'
Sequencing Primer
(F):5'- AGAAACCCTGAGATCGTTGC -3'
(R):5'- ATTCCGAACCTGGAGGAGCTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation