Incidental Mutation 'R7108:Slmap'
ID |
551352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slmap
|
Ensembl Gene |
ENSMUSG00000021870 |
Gene Name |
sarcolemma associated protein |
Synonyms |
Slap, D330001L02Rik, Miranda |
MMRRC Submission |
045200-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7108 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26143676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 737
(K737R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117816
(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: K716R
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000046956 Gene: ENSMUSG00000021870 AA Change: K716R
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: K720R
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000087836 Gene: ENSMUSG00000021870 AA Change: K720R
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: K716R
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000100021 Gene: ENSMUSG00000021870 AA Change: K716R
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: K682R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000107949 Gene: ENSMUSG00000021870 AA Change: K682R
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: K582R
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000107950 Gene: ENSMUSG00000021870 AA Change: K582R
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
AA Change: K737R
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000117816 Gene: ENSMUSG00000021870 AA Change: K737R
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 |
|
SMART Domains |
Protein: ENSMUSP00000123072 Gene: ENSMUSG00000021870 AA Change: K327R
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 |
|
SMART Domains |
Protein: ENSMUSP00000117276 Gene: ENSMUSG00000021870 AA Change: K368R
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
C |
11: 58,771,750 (GRCm39) |
S411P |
probably damaging |
Het |
4930503L19Rik |
A |
T |
18: 70,601,547 (GRCm39) |
Y112N |
probably benign |
Het |
Abcd2 |
A |
T |
15: 91,075,477 (GRCm39) |
V112E |
probably benign |
Het |
Acadm |
A |
T |
3: 153,631,437 (GRCm39) |
Y353* |
probably null |
Het |
Adra2c |
A |
G |
5: 35,437,342 (GRCm39) |
D38G |
probably benign |
Het |
Ankrd10 |
C |
T |
8: 11,662,624 (GRCm39) |
G370R |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,715,528 (GRCm39) |
N1324K |
possibly damaging |
Het |
Atp6v1b2 |
A |
G |
8: 69,555,153 (GRCm39) |
T172A |
probably damaging |
Het |
Bloc1s1 |
T |
A |
10: 128,758,592 (GRCm39) |
K22M |
possibly damaging |
Het |
Brpf3 |
A |
G |
17: 29,036,099 (GRCm39) |
T599A |
probably benign |
Het |
Cacna1e |
TTCCAGTCTC |
TTC |
1: 154,344,741 (GRCm39) |
|
probably null |
Het |
Ccdc186 |
T |
C |
19: 56,787,192 (GRCm39) |
D592G |
probably damaging |
Het |
Cfap161 |
A |
T |
7: 83,442,518 (GRCm39) |
D98E |
possibly damaging |
Het |
Cfi |
G |
A |
3: 129,668,665 (GRCm39) |
V564M |
probably damaging |
Het |
Cilp2 |
T |
A |
8: 70,333,779 (GRCm39) |
Q1073L |
probably damaging |
Het |
Cox6b1 |
A |
G |
7: 30,322,929 (GRCm39) |
C40R |
possibly damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
Cyth1 |
T |
C |
11: 118,073,739 (GRCm39) |
D198G |
probably damaging |
Het |
Daam2 |
T |
C |
17: 49,767,702 (GRCm39) |
D963G |
probably damaging |
Het |
Ddi2 |
A |
T |
4: 141,433,248 (GRCm39) |
D209E |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
Dnai7 |
G |
A |
6: 145,131,591 (GRCm39) |
Q351* |
probably null |
Het |
Dpagt1 |
G |
T |
9: 44,238,318 (GRCm39) |
|
probably benign |
Het |
Drc3 |
T |
A |
11: 60,261,380 (GRCm39) |
F177Y |
probably benign |
Het |
Dsg2 |
T |
C |
18: 20,734,920 (GRCm39) |
V966A |
probably damaging |
Het |
E4f1 |
A |
G |
17: 24,663,552 (GRCm39) |
V633A |
probably damaging |
Het |
Eif2ak2 |
T |
A |
17: 79,165,965 (GRCm39) |
R411* |
probably null |
Het |
Frem2 |
T |
C |
3: 53,560,934 (GRCm39) |
E1191G |
probably damaging |
Het |
Fry |
T |
C |
5: 150,319,251 (GRCm39) |
V972A |
probably damaging |
Het |
Fry |
T |
A |
5: 150,414,555 (GRCm39) |
C467S |
|
Het |
Fscn1 |
T |
C |
5: 142,946,270 (GRCm39) |
Y23H |
probably damaging |
Het |
Gm16506 |
T |
A |
14: 43,961,759 (GRCm39) |
I163F |
|
Het |
Gm21103 |
T |
C |
14: 17,484,768 (GRCm39) |
Y92C |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,734,083 (GRCm39) |
H1151R |
probably benign |
Het |
Gprc5c |
T |
C |
11: 114,755,108 (GRCm39) |
Y262H |
probably damaging |
Het |
Hc |
G |
T |
2: 34,929,706 (GRCm39) |
N245K |
probably benign |
Het |
Hps6 |
T |
A |
19: 45,993,929 (GRCm39) |
L622Q |
probably damaging |
Het |
Hsd17b1 |
T |
C |
11: 100,970,035 (GRCm39) |
Y156H |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,813,925 (GRCm39) |
F799L |
probably damaging |
Het |
Irf1 |
A |
G |
11: 53,665,238 (GRCm39) |
D205G |
probably damaging |
Het |
Kif12 |
A |
T |
4: 63,089,442 (GRCm39) |
F103L |
probably benign |
Het |
Krt12 |
C |
T |
11: 99,306,878 (GRCm39) |
V475M |
unknown |
Het |
Lca5 |
T |
A |
9: 83,305,222 (GRCm39) |
T195S |
probably benign |
Het |
Lrrc17 |
T |
C |
5: 21,780,337 (GRCm39) |
V437A |
possibly damaging |
Het |
Malt1 |
G |
T |
18: 65,597,122 (GRCm39) |
D468Y |
probably damaging |
Het |
Man2b2 |
C |
T |
5: 36,972,829 (GRCm39) |
A562T |
probably benign |
Het |
Mrc1 |
C |
T |
2: 14,308,957 (GRCm39) |
Q794* |
probably null |
Het |
Muc16 |
T |
A |
9: 18,566,529 (GRCm39) |
I1997L |
unknown |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
A |
T |
14: 103,360,039 (GRCm39) |
F4518Y |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,037,274 (GRCm39) |
I159N |
probably damaging |
Het |
Nat1 |
T |
C |
8: 67,943,672 (GRCm39) |
V19A |
probably benign |
Het |
Ndst4 |
A |
G |
3: 125,355,120 (GRCm39) |
T343A |
probably damaging |
Het |
Nlrp9b |
A |
T |
7: 19,779,855 (GRCm39) |
L839F |
probably damaging |
Het |
Nxnl1 |
A |
G |
8: 72,019,198 (GRCm39) |
I9T |
probably benign |
Het |
Odr4 |
T |
C |
1: 150,258,041 (GRCm39) |
Y198C |
probably benign |
Het |
Or1l4b |
C |
T |
2: 37,036,272 (GRCm39) |
T16I |
probably benign |
Het |
Or2ag12 |
G |
A |
7: 106,277,255 (GRCm39) |
A146V |
probably benign |
Het |
Or2t49 |
T |
A |
11: 58,393,380 (GRCm39) |
M7L |
probably benign |
Het |
Or52b4i |
A |
T |
7: 102,191,199 (GRCm39) |
I19F |
probably damaging |
Het |
Or7a35 |
C |
A |
10: 78,853,483 (GRCm39) |
S109* |
probably null |
Het |
Pou5f2 |
T |
C |
13: 78,173,384 (GRCm39) |
S109P |
possibly damaging |
Het |
Prkcz |
G |
A |
4: 155,371,250 (GRCm39) |
Q321* |
probably null |
Het |
Prr18 |
G |
T |
17: 8,560,363 (GRCm39) |
R173L |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,334,380 (GRCm39) |
Y1364H |
probably damaging |
Het |
Ralgapb |
A |
T |
2: 158,336,582 (GRCm39) |
I1407F |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,448,458 (GRCm39) |
Y3501* |
probably null |
Het |
Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
Scn8a |
A |
T |
15: 100,937,659 (GRCm39) |
H1676L |
probably benign |
Het |
Shmt1 |
T |
C |
11: 60,689,470 (GRCm39) |
D178G |
probably damaging |
Het |
Ssh2 |
G |
A |
11: 77,345,620 (GRCm39) |
V1202I |
probably benign |
Het |
Stard7 |
A |
G |
2: 127,137,414 (GRCm39) |
D288G |
possibly damaging |
Het |
Tek |
A |
T |
4: 94,741,724 (GRCm39) |
D827V |
probably damaging |
Het |
Tfap2e |
A |
G |
4: 126,614,356 (GRCm39) |
L276P |
probably damaging |
Het |
Tns3 |
T |
C |
11: 8,387,251 (GRCm39) |
N1312S |
probably benign |
Het |
Tubd1 |
T |
A |
11: 86,448,631 (GRCm39) |
S315T |
probably damaging |
Het |
Ube2f |
T |
A |
1: 91,192,941 (GRCm39) |
C50* |
probably null |
Het |
Vmn2r109 |
T |
C |
17: 20,785,006 (GRCm39) |
I5V |
probably benign |
Het |
Vmn2r39 |
T |
C |
7: 9,026,667 (GRCm39) |
T445A |
probably damaging |
Het |
Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
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 |
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'- ATGACCAGGTTGGAGTGTTCC -3'
(R):5'- TCTCCTGCTGTGAAACCCAC -3'
Sequencing Primer
(F):5'- AGTGTTCCAAGTGCCAACTG -3'
(R):5'- CCACTGGTGCAATGCTGAG -3'
|
Posted On |
2019-05-15 |