Incidental Mutation 'R5821:Slmap'
| ID |
449950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slmap
|
| Ensembl Gene |
ENSMUSG00000021870 |
| Gene Name |
sarcolemma associated protein |
| Synonyms |
Slap, D330001L02Rik, Miranda |
| MMRRC Submission |
043401-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5821 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26183435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 316
(D316G)
|
| 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: D316G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: D316G
| 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: ENSMUST00000090359
AA Change: D316G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: D316G
| 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: D316G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: D316G
| 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: D316G
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: D316G
| 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 |
possibly damaging
Transcript: ENSMUST00000112331
AA Change: D195G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: D195G
| 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: D316G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: D316G
| 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 |
unknown
Transcript: ENSMUST00000146438
AA Change: D79G
|
| SMART Domains |
Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870
AA Change: D79G
| 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 |
|
| Meta Mutation Damage Score |
0.0935 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| 1700001O22Rik |
A |
T |
2: 30,686,458 (GRCm39) |
V278D |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,322,167 (GRCm39) |
D227G |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,096,064 (GRCm39) |
E2313G |
probably benign |
Het |
| Cchcr1 |
A |
T |
17: 35,839,745 (GRCm39) |
E564D |
probably damaging |
Het |
| Cers2 |
G |
A |
3: 95,229,008 (GRCm39) |
|
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,425,188 (GRCm39) |
I301T |
probably benign |
Het |
| Ciita |
A |
T |
16: 10,329,669 (GRCm39) |
E648V |
possibly damaging |
Het |
| Cir1 |
C |
T |
2: 73,142,804 (GRCm39) |
C10Y |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,518,214 (GRCm39) |
F1087I |
probably damaging |
Het |
| Cped1 |
C |
A |
6: 22,138,681 (GRCm39) |
F415L |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,181,292 (GRCm39) |
T1060A |
possibly damaging |
Het |
| Epha5 |
G |
T |
5: 84,232,587 (GRCm39) |
P809H |
probably damaging |
Het |
| Fuca1 |
T |
A |
4: 135,650,273 (GRCm39) |
|
probably null |
Het |
| Galnt2l |
A |
T |
8: 123,627,372 (GRCm39) |
*98R |
probably null |
Het |
| Gm26796 |
G |
A |
12: 80,805,564 (GRCm39) |
R237C |
unknown |
Het |
| Idua |
A |
G |
5: 108,827,600 (GRCm39) |
Y138C |
probably benign |
Het |
| Ighd |
A |
T |
12: 113,373,253 (GRCm39) |
L240H |
probably benign |
Het |
| Ing2 |
C |
G |
8: 48,121,861 (GRCm39) |
C229S |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kctd8 |
A |
T |
5: 69,267,828 (GRCm39) |
N427K |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,544,586 (GRCm39) |
E1147G |
probably damaging |
Het |
| Kif18a |
G |
A |
2: 109,120,190 (GRCm39) |
|
probably benign |
Het |
| Krt82 |
T |
A |
15: 101,456,820 (GRCm39) |
R187* |
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,593,593 (GRCm39) |
|
probably null |
Het |
| M1ap |
T |
C |
6: 82,945,083 (GRCm39) |
Y126H |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,970,044 (GRCm39) |
N226D |
possibly damaging |
Het |
| Mtmr11 |
A |
G |
3: 96,075,185 (GRCm39) |
D353G |
possibly damaging |
Het |
| Nfkbia |
A |
T |
12: 55,538,005 (GRCm39) |
H149Q |
probably damaging |
Het |
| Nr5a1 |
A |
T |
2: 38,598,511 (GRCm39) |
F95L |
probably damaging |
Het |
| Nutm2 |
A |
G |
13: 50,623,891 (GRCm39) |
Y196C |
probably benign |
Het |
| Oxtr |
A |
G |
6: 112,466,457 (GRCm39) |
I101T |
probably damaging |
Het |
| Pcsk2 |
T |
A |
2: 143,591,035 (GRCm39) |
|
probably null |
Het |
| Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,788 (GRCm39) |
W585R |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,012,933 (GRCm39) |
S407G |
probably benign |
Het |
| Ppfia3 |
G |
A |
7: 45,003,040 (GRCm39) |
T372I |
probably damaging |
Het |
| Prrc2b |
A |
T |
2: 32,102,144 (GRCm39) |
E739V |
probably damaging |
Het |
| Ro60 |
A |
G |
1: 143,642,503 (GRCm39) |
V209A |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,574,047 (GRCm39) |
E192G |
probably damaging |
Het |
| Smim8 |
GGTTTAATGAAGAG |
GG |
4: 34,771,259 (GRCm39) |
|
probably benign |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tgm2 |
T |
A |
2: 157,984,974 (GRCm39) |
Y44F |
possibly damaging |
Het |
| Tmc8 |
C |
A |
11: 117,683,455 (GRCm39) |
S670* |
probably null |
Het |
| Tmem145 |
A |
G |
7: 25,014,946 (GRCm39) |
D523G |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,566,937 (GRCm39) |
G483E |
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 |
|
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'- GCGTCTAGTGGTTGACATAGAAG -3'
(R):5'- TTGATGTAGACTAGTTCAGAACTACAC -3'
Sequencing Primer
(F):5'- GGCTGGATTAAGAATGTCCCTCAC -3'
(R):5'- GAAGATGAATGTACCCACC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation