Incidental Mutation 'R5387:Slmap'
| ID |
425361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slmap
|
| Ensembl Gene |
ENSMUSG00000021870 |
| Gene Name |
sarcolemma associated protein |
| Synonyms |
D330001L02Rik, Slap |
| MMRRC Submission |
042959-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5387 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
26413168-26534931 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26459933 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 386
(E386G)
|
| 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: E386G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: E386G
| 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: E386G
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: E386G
| 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: E386G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: E386G
| 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
AA Change: E386G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: E386G
| 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: ENSMUST00000145738
AA Change: E55G
|
| SMART Domains |
Protein: ENSMUSP00000117276
Gene: ENSMUSG00000021870
AA Change: E55G
| 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 |
probably benign
Transcript: ENSMUST00000146438
|
| SMART Domains |
Protein: ENSMUSP00000123344
Gene: ENSMUSG00000021870
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
17 |
142 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1134 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (80/81) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,259,973 (GRCm38) |
S140T |
probably benign |
Het |
| Ahnak |
T |
C |
19: 9,003,691 (GRCm38) |
S780P |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,634,644 (GRCm38) |
H1205N |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,648,619 (GRCm38) |
K139R |
probably benign |
Het |
| Anp32b |
T |
G |
4: 46,468,573 (GRCm38) |
C114W |
probably damaging |
Het |
| Ascl1 |
C |
T |
10: 87,492,689 (GRCm38) |
A134T |
probably damaging |
Het |
| Atl2 |
C |
T |
17: 79,852,800 (GRCm38) |
E453K |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,055,024 (GRCm38) |
A84V |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,837,785 (GRCm38) |
M332K |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 30,100,751 (GRCm38) |
V1107A |
probably damaging |
Het |
| Cd33 |
G |
A |
7: 43,532,053 (GRCm38) |
Q114* |
probably null |
Het |
| Cdhr18 |
C |
A |
14: 13,914,438 (GRCm38) |
M1I |
probably null |
Het |
| Col4a4 |
C |
T |
1: 82,493,591 (GRCm38) |
G681E |
unknown |
Het |
| Defb22 |
C |
A |
2: 152,485,906 (GRCm38) |
A120S |
unknown |
Het |
| Dnah7b |
A |
G |
1: 46,188,659 (GRCm38) |
I1347M |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,134,842 (GRCm38) |
I549T |
possibly damaging |
Het |
| Esp15 |
T |
A |
17: 39,644,577 (GRCm38) |
|
probably null |
Het |
| Fbxo7 |
A |
G |
10: 86,024,654 (GRCm38) |
T42A |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,818,274 (GRCm38) |
I1021T |
probably benign |
Het |
| Gad1 |
C |
A |
2: 70,563,851 (GRCm38) |
S7* |
probably null |
Het |
| H2ac7 |
T |
A |
13: 23,574,667 (GRCm38) |
|
probably null |
Het |
| H2-Q7 |
C |
T |
17: 35,439,542 (GRCm38) |
T52M |
probably damaging |
Het |
| H2-T3 |
C |
T |
17: 36,186,702 (GRCm38) |
G28R |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 80,098,331 (GRCm38) |
|
probably benign |
Het |
| Ift81 |
A |
G |
5: 122,555,535 (GRCm38) |
Y604H |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 39,022,423 (GRCm38) |
Y154C |
probably damaging |
Het |
| Kif26b |
G |
T |
1: 178,914,876 (GRCm38) |
A846S |
probably benign |
Het |
| Lnx2 |
G |
A |
5: 147,028,154 (GRCm38) |
P420S |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 37,072,259 (GRCm38) |
T427A |
probably damaging |
Het |
| Lrrc43 |
G |
T |
5: 123,499,671 (GRCm38) |
|
probably null |
Het |
| Mettl25b |
A |
T |
3: 87,930,011 (GRCm38) |
|
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,884,394 (GRCm38) |
Y1325H |
probably damaging |
Het |
| Naglu |
A |
T |
11: 101,076,724 (GRCm38) |
Y500F |
probably damaging |
Het |
| Npy4r |
A |
G |
14: 34,146,983 (GRCm38) |
M116T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 109,039,762 (GRCm38) |
Y526C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,762,813 (GRCm38) |
S472P |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,314,292 (GRCm38) |
T31S |
probably benign |
Het |
| Or12k8 |
T |
C |
2: 37,085,719 (GRCm38) |
T10A |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,780,933 (GRCm38) |
T1828S |
probably benign |
Het |
| Pank2 |
C |
T |
2: 131,274,262 (GRCm38) |
T200I |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 31,082,610 (GRCm38) |
Y946C |
probably damaging |
Het |
| Pde12 |
A |
T |
14: 26,666,453 (GRCm38) |
S437T |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,265,268 (GRCm38) |
K1710E |
possibly damaging |
Het |
| Plcd3 |
A |
G |
11: 103,078,455 (GRCm38) |
S229P |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,454,941 (GRCm38) |
I1084V |
possibly damaging |
Het |
| Prkaa2 |
C |
A |
4: 105,040,177 (GRCm38) |
D280Y |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,153,873 (GRCm38) |
S531R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,485,434 (GRCm38) |
S620P |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,493,455 (GRCm38) |
T117A |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,157,765 (GRCm38) |
D804G |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,956,413 (GRCm38) |
T773A |
possibly damaging |
Het |
| Rspry1 |
A |
G |
8: 94,638,286 (GRCm38) |
T185A |
possibly damaging |
Het |
| Sec61a2 |
G |
T |
2: 5,882,545 (GRCm38) |
|
probably benign |
Het |
| Setx |
C |
T |
2: 29,147,594 (GRCm38) |
R1364C |
probably benign |
Het |
| Shtn1 |
G |
T |
19: 59,038,369 (GRCm38) |
L97M |
probably damaging |
Het |
| Slc35f1 |
T |
C |
10: 53,108,164 (GRCm38) |
L340P |
probably damaging |
Het |
| Slc45a1 |
T |
A |
4: 150,643,909 (GRCm38) |
|
probably benign |
Het |
| Smc2 |
C |
T |
4: 52,475,096 (GRCm38) |
A924V |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,589,118 (GRCm38) |
E219D |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,375,063 (GRCm38) |
L766F |
probably damaging |
Het |
| Tle3 |
C |
T |
9: 61,407,489 (GRCm38) |
|
probably null |
Het |
| Top3a |
A |
G |
11: 60,762,490 (GRCm38) |
F53L |
probably damaging |
Het |
| Trappc2b |
A |
T |
11: 51,685,974 (GRCm38) |
D32E |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,241,513 (GRCm38) |
I26T |
possibly damaging |
Het |
| Ttc7b |
G |
T |
12: 100,446,963 (GRCm38) |
Q199K |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 90,006,596 (GRCm38) |
Y975C |
probably benign |
Het |
| Ubxn11 |
C |
A |
4: 134,123,426 (GRCm38) |
D196E |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,530,021 (GRCm38) |
H945R |
possibly damaging |
Het |
| Usp15 |
A |
G |
10: 123,131,286 (GRCm38) |
I405T |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,189,339 (GRCm38) |
E138K |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,677,295 (GRCm38) |
E107G |
probably benign |
Het |
| Wbp1l |
T |
C |
19: 46,644,457 (GRCm38) |
|
probably null |
Het |
| Zfp184 |
T |
G |
13: 21,949,640 (GRCm38) |
|
probably benign |
Het |
| Zfp36 |
A |
C |
7: 28,377,868 (GRCm38) |
L205R |
possibly damaging |
Het |
|
| Other mutations in Slmap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02402:Slmap
|
APN |
14 |
26,463,710 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02612:Slmap
|
APN |
14 |
26,459,466 (GRCm38) |
splice site |
probably benign |
|
|
IGL02630:Slmap
|
APN |
14 |
26,422,431 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02798:Slmap
|
APN |
14 |
26,470,378 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
PIT4382001:Slmap
|
UTSW |
14 |
26,533,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0433:Slmap
|
UTSW |
14 |
26,453,594 (GRCm38) |
nonsense |
probably null |
|
|
R0963:Slmap
|
UTSW |
14 |
26,468,520 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1721:Slmap
|
UTSW |
14 |
26,460,218 (GRCm38) |
splice site |
probably benign |
|
|
R1848:Slmap
|
UTSW |
14 |
26,422,574 (GRCm38) |
missense |
probably benign |
|
|
R2151:Slmap
|
UTSW |
14 |
26,418,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2152:Slmap
|
UTSW |
14 |
26,418,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2153:Slmap
|
UTSW |
14 |
26,418,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2154:Slmap
|
UTSW |
14 |
26,418,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3725:Slmap
|
UTSW |
14 |
26,427,242 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3726:Slmap
|
UTSW |
14 |
26,427,242 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3935:Slmap
|
UTSW |
14 |
26,459,415 (GRCm38) |
missense |
probably benign |
|
|
R4118:Slmap
|
UTSW |
14 |
26,482,872 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4594:Slmap
|
UTSW |
14 |
26,465,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4731:Slmap
|
UTSW |
14 |
26,468,535 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4732:Slmap
|
UTSW |
14 |
26,468,535 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4733:Slmap
|
UTSW |
14 |
26,468,535 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4817:Slmap
|
UTSW |
14 |
26,462,352 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4847:Slmap
|
UTSW |
14 |
26,426,608 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4860:Slmap
|
UTSW |
14 |
26,460,209 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4860:Slmap
|
UTSW |
14 |
26,460,209 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5092:Slmap
|
UTSW |
14 |
26,463,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5211:Slmap
|
UTSW |
14 |
26,482,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5821:Slmap
|
UTSW |
14 |
26,462,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6404:Slmap
|
UTSW |
14 |
26,422,411 (GRCm38) |
splice site |
probably null |
|
|
R6856:Slmap
|
UTSW |
14 |
26,430,092 (GRCm38) |
splice site |
probably null |
|
|
R6977:Slmap
|
UTSW |
14 |
26,533,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7108:Slmap
|
UTSW |
14 |
26,422,521 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7320:Slmap
|
UTSW |
14 |
26,460,072 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7470:Slmap
|
UTSW |
14 |
26,427,420 (GRCm38) |
missense |
probably benign |
|
|
R7520:Slmap
|
UTSW |
14 |
26,427,420 (GRCm38) |
missense |
probably benign |
|
|
R7540:Slmap
|
UTSW |
14 |
26,460,191 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7544:Slmap
|
UTSW |
14 |
26,429,848 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7544:Slmap
|
UTSW |
14 |
26,429,846 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8112:Slmap
|
UTSW |
14 |
26,422,548 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8153:Slmap
|
UTSW |
14 |
26,533,333 (GRCm38) |
missense |
probably benign |
|
|
R8196:Slmap
|
UTSW |
14 |
26,468,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8300:Slmap
|
UTSW |
14 |
26,418,219 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8523:Slmap
|
UTSW |
14 |
26,429,810 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9039:Slmap
|
UTSW |
14 |
26,533,364 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9094:Slmap
|
UTSW |
14 |
26,416,200 (GRCm38) |
intron |
probably benign |
|
|
R9504:Slmap
|
UTSW |
14 |
26,414,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9657:Slmap
|
UTSW |
14 |
26,429,858 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9695:Slmap
|
UTSW |
14 |
26,462,341 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9763:Slmap
|
UTSW |
14 |
26,482,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9801:Slmap
|
UTSW |
14 |
26,422,440 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Slmap
|
UTSW |
14 |
26,533,450 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTGGTGGCAATCATGAG -3'
(R):5'- CCTATGCAACAGGTAGCAGAG -3'
Sequencing Primer
(F):5'- GTGGCAATCATGAGTACTATAAAAGG -3'
(R):5'- AGAGCTCCAGGCAAAAATCG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation