Incidental Mutation 'R9094:Slmap'
ID |
723549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slmap
|
Ensembl Gene |
ENSMUSG00000021870 |
Gene Name |
sarcolemma associated protein |
Synonyms |
Slap, D330001L02Rik, Miranda |
MMRRC Submission |
068909-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9094 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 26137355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038522]
[ENSMUST00000090359]
[ENSMUST00000102956]
[ENSMUST00000112330]
[ENSMUST00000112331]
[ENSMUST00000139075]
|
AlphaFold |
Q3URD3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038522
|
SMART Domains |
Protein: ENSMUSP00000046956 Gene: ENSMUSG00000021870
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
|
SMART Domains |
Protein: ENSMUSP00000087836 Gene: ENSMUSG00000021870
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
|
SMART Domains |
Protein: ENSMUSP00000100021 Gene: ENSMUSG00000021870
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
|
SMART Domains |
Protein: ENSMUSP00000107949 Gene: ENSMUSG00000021870
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
|
SMART Domains |
Protein: ENSMUSP00000107950 Gene: ENSMUSG00000021870
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 benign
Transcript: ENSMUST00000139075
|
SMART Domains |
Protein: ENSMUSP00000117816 Gene: ENSMUSG00000021870
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
96% (67/70) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110021N24Rik |
T |
C |
4: 108,637,744 (GRCm39) |
V37A |
unknown |
Het |
3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
Abi3bp |
A |
G |
16: 56,456,590 (GRCm39) |
I1021V |
probably benign |
Het |
Agrn |
C |
A |
4: 156,253,264 (GRCm39) |
K1848N |
probably benign |
Het |
Anln |
A |
G |
9: 22,249,283 (GRCm39) |
V1005A |
probably benign |
Het |
Arb2a |
A |
G |
13: 78,311,725 (GRCm39) |
K356R |
possibly damaging |
Het |
Arid3b |
A |
G |
9: 57,741,327 (GRCm39) |
Y40H |
probably damaging |
Het |
Bco1 |
A |
C |
8: 117,859,917 (GRCm39) |
D540A |
probably benign |
Het |
Blnk |
A |
G |
19: 40,982,482 (GRCm39) |
I7T |
probably benign |
Het |
Brca2 |
T |
G |
5: 150,475,770 (GRCm39) |
D2493E |
probably benign |
Het |
Bsn |
T |
A |
9: 107,988,052 (GRCm39) |
M2567L |
unknown |
Het |
Cacna1e |
T |
A |
1: 154,355,064 (GRCm39) |
Y693F |
possibly damaging |
Het |
Catsperg1 |
G |
C |
7: 28,884,152 (GRCm39) |
T987R |
probably damaging |
Het |
Cpa4 |
G |
T |
6: 30,574,393 (GRCm39) |
D61Y |
possibly damaging |
Het |
Cpne1 |
A |
C |
2: 155,921,080 (GRCm39) |
V70G |
probably damaging |
Het |
Dnase1l3 |
A |
T |
14: 7,987,306 (GRCm38) |
N81K |
probably damaging |
Het |
Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
Fbxo34 |
C |
G |
14: 47,767,928 (GRCm39) |
H480Q |
probably benign |
Het |
Frmd4b |
T |
C |
6: 97,398,559 (GRCm39) |
E96G |
|
Het |
Gdpgp1 |
T |
A |
7: 79,888,216 (GRCm39) |
D82E |
probably benign |
Het |
Gjb3 |
GCCAGATGCGCCCA |
GCCAGATGCGCCCAGATGCGCCCA |
4: 127,220,458 (GRCm39) |
|
probably null |
Het |
Grpel1 |
A |
G |
5: 36,626,823 (GRCm39) |
N35S |
probably benign |
Het |
Il12rb1 |
A |
G |
8: 71,273,291 (GRCm39) |
T665A |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,301,559 (GRCm39) |
T886A |
probably benign |
Het |
Insig1 |
T |
A |
5: 28,278,570 (GRCm39) |
C128* |
probably null |
Het |
Kcnk10 |
T |
A |
12: 98,484,775 (GRCm39) |
E120D |
probably benign |
Het |
Kctd1 |
T |
C |
18: 15,195,369 (GRCm39) |
N418S |
possibly damaging |
Het |
Kifbp |
A |
G |
10: 62,395,037 (GRCm39) |
V535A |
probably damaging |
Het |
Klhl20 |
T |
A |
1: 160,933,055 (GRCm39) |
H251L |
probably damaging |
Het |
Ldlrad3 |
T |
C |
2: 101,888,326 (GRCm39) |
D127G |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,903,182 (GRCm39) |
Y388C |
probably damaging |
Het |
Lrrc4 |
G |
A |
6: 28,830,206 (GRCm39) |
R47W |
possibly damaging |
Het |
Luzp1 |
A |
T |
4: 136,272,562 (GRCm39) |
D1022V |
probably damaging |
Het |
Mllt1 |
C |
A |
17: 57,212,737 (GRCm39) |
R132L |
probably damaging |
Het |
Ncoa1 |
G |
T |
12: 4,345,494 (GRCm39) |
H618N |
possibly damaging |
Het |
Nelfcd |
T |
C |
2: 174,265,861 (GRCm39) |
S318P |
probably damaging |
Het |
Ngly1 |
A |
C |
14: 16,280,721 (GRCm38) |
T301P |
probably damaging |
Het |
Npy5r |
G |
A |
8: 67,133,560 (GRCm39) |
T411I |
probably damaging |
Het |
Or55b10 |
T |
C |
7: 102,143,568 (GRCm39) |
E138G |
possibly damaging |
Het |
Or5d46 |
A |
G |
2: 88,170,248 (GRCm39) |
N113S |
probably benign |
Het |
Pcdha6 |
T |
A |
18: 37,101,593 (GRCm39) |
I262N |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Pm20d1 |
C |
A |
1: 131,730,481 (GRCm39) |
A245D |
possibly damaging |
Het |
Rars1 |
T |
C |
11: 35,718,182 (GRCm39) |
|
probably benign |
Het |
Rbms2 |
T |
A |
10: 127,987,107 (GRCm39) |
I62F |
probably damaging |
Het |
Rev3l |
A |
T |
10: 39,700,809 (GRCm39) |
T1769S |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,378,854 (GRCm39) |
Y1061H |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,500,240 (GRCm39) |
I26F |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rtkn |
A |
T |
6: 83,128,018 (GRCm39) |
N406Y |
possibly damaging |
Het |
Rtn4r |
A |
T |
16: 17,969,708 (GRCm39) |
I379F |
possibly damaging |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Sorl1 |
A |
T |
9: 41,975,050 (GRCm39) |
N519K |
possibly damaging |
Het |
Srebf2 |
A |
T |
15: 82,056,975 (GRCm39) |
I237F |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,242,651 (GRCm39) |
S1479G |
possibly damaging |
Het |
Tbc1d24 |
C |
A |
17: 24,400,274 (GRCm39) |
E537* |
probably null |
Het |
Ttf1 |
T |
A |
2: 28,957,080 (GRCm39) |
I450K |
probably benign |
Het |
Ube2e2 |
A |
G |
14: 18,893,288 (GRCm38) |
S2P |
unknown |
Het |
Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
Vmn2r25 |
C |
T |
6: 123,805,391 (GRCm39) |
V489I |
probably benign |
Het |
Wfdc8 |
C |
T |
2: 164,439,245 (GRCm39) |
R379H |
unknown |
Het |
Zeb2 |
C |
T |
2: 45,003,136 (GRCm39) |
|
probably benign |
Het |
Zfp3 |
C |
T |
11: 70,663,241 (GRCm39) |
T400I |
probably benign |
Het |
Zfp760 |
T |
C |
17: 21,941,932 (GRCm39) |
I369T |
possibly 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 |
R9039:Slmap
|
UTSW |
14 |
26,254,519 (GRCm39) |
missense |
probably benign |
0.08 |
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'- TAACTGGGACATGGCTGGTG -3'
(R):5'- ATGGTATACTTCTGTTACCTCAGCC -3'
Sequencing Primer
(F):5'- CATGGCTGGTGATACTGCAGAAATTC -3'
(R):5'- CTCCTCCAACCACCCCCTG -3'
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Posted On |
2022-08-24 |