Incidental Mutation 'R6856:Slmap'
| ID |
535277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slmap
|
| Ensembl Gene |
ENSMUSG00000021870 |
| Gene Name |
sarcolemma associated protein |
| Synonyms |
Slap, D330001L02Rik, Miranda |
| MMRRC Submission |
044958-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6856 (G1)
|
| Quality Score |
116.008 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 26151247 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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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: 99.6%
- 20x: 98.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
G |
3: 151,205,755 (GRCm39) |
M156V |
probably benign |
Het |
| Aire |
A |
T |
10: 77,866,089 (GRCm39) |
F546I |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,331,320 (GRCm39) |
E230G |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,279,397 (GRCm39) |
K86N |
possibly damaging |
Het |
| Aqp4 |
T |
C |
18: 15,532,953 (GRCm39) |
I47V |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,112,916 (GRCm39) |
V1098A |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,625,158 (GRCm39) |
W1652R |
probably damaging |
Het |
| Atad2 |
T |
A |
15: 57,970,209 (GRCm39) |
H464L |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,463,673 (GRCm39) |
H1146N |
possibly damaging |
Het |
| Capn9 |
G |
A |
8: 125,324,308 (GRCm39) |
V203M |
probably damaging |
Het |
| Ccr6 |
T |
A |
17: 8,474,881 (GRCm39) |
S29T |
probably benign |
Het |
| Cfap99 |
G |
T |
5: 34,467,561 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
C |
T |
7: 44,609,342 (GRCm39) |
G716S |
probably damaging |
Het |
| Dhx29 |
A |
T |
13: 113,089,395 (GRCm39) |
Q722L |
probably benign |
Het |
| Dmxl1 |
C |
T |
18: 49,985,355 (GRCm39) |
R201* |
probably null |
Het |
| Dsg2 |
G |
A |
18: 20,734,859 (GRCm39) |
G946S |
probably damaging |
Het |
| Erg |
C |
A |
16: 95,169,510 (GRCm39) |
|
probably null |
Het |
| Fbxo32 |
G |
A |
15: 58,078,037 (GRCm39) |
|
probably benign |
Het |
| Gask1b |
G |
T |
3: 79,793,448 (GRCm39) |
|
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,293,076 (GRCm39) |
D66E |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,750,652 (GRCm39) |
N605I |
probably damaging |
Het |
| Gtf3c6 |
T |
C |
10: 40,125,668 (GRCm39) |
E183G |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,305,180 (GRCm39) |
M861V |
probably benign |
Het |
| Igkv12-41 |
A |
T |
6: 69,835,513 (GRCm39) |
S80T |
probably damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,523,742 (GRCm39) |
S1057P |
probably damaging |
Het |
| Krt36 |
T |
G |
11: 99,994,216 (GRCm39) |
Q287P |
probably damaging |
Het |
| Ldhd |
A |
G |
8: 112,356,906 (GRCm39) |
S13P |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,443,721 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,343,612 (GRCm39) |
F916I |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,686,259 (GRCm39) |
I92F |
probably damaging |
Het |
| Naa25 |
A |
T |
5: 121,576,867 (GRCm39) |
K872M |
probably damaging |
Het |
| Nek3 |
C |
A |
8: 22,619,463 (GRCm39) |
G443V |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,273,810 (GRCm39) |
E77G |
probably benign |
Het |
| Nup210 |
G |
A |
6: 91,064,895 (GRCm39) |
Q202* |
probably null |
Het |
| Or52d1 |
A |
T |
7: 103,755,998 (GRCm39) |
M171L |
probably benign |
Het |
| Or8k27 |
G |
T |
2: 86,276,251 (GRCm39) |
S25Y |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,109,056 (GRCm39) |
S201P |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,866,457 (GRCm39) |
Y751N |
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,620 (GRCm39) |
L792* |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,792,467 (GRCm39) |
F1385L |
probably benign |
Het |
| Plxnb2 |
A |
C |
15: 89,048,523 (GRCm39) |
C629G |
probably benign |
Het |
| Prpsap2 |
A |
T |
11: 61,621,097 (GRCm39) |
I328N |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,509,940 (GRCm39) |
L2317P |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,952,762 (GRCm39) |
D824G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,361,301 (GRCm39) |
S204N |
probably damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rap1a |
A |
G |
3: 105,639,384 (GRCm39) |
F92L |
probably damaging |
Het |
| Spdye4c |
A |
G |
2: 128,438,050 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
A |
G |
5: 26,155,843 (GRCm39) |
I167T |
probably benign |
Het |
| Stk11 |
C |
A |
10: 79,963,924 (GRCm39) |
F97L |
probably benign |
Het |
| Tbc1d9b |
G |
A |
11: 50,059,573 (GRCm39) |
A992T |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,757,305 (GRCm39) |
T296M |
possibly damaging |
Het |
| Trim33 |
C |
T |
3: 103,259,365 (GRCm39) |
T1018M |
probably damaging |
Het |
| Trpv2 |
A |
C |
11: 62,475,441 (GRCm39) |
I285L |
probably benign |
Het |
| Usp46 |
A |
G |
5: 74,189,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,432 (GRCm39) |
M191L |
possibly damaging |
Het |
| Vwf |
G |
T |
6: 125,619,113 (GRCm39) |
E1264* |
probably null |
Het |
| Zfp109 |
A |
T |
7: 23,928,823 (GRCm39) |
N195K |
probably benign |
Het |
| Zfp385b |
T |
A |
2: 77,246,138 (GRCm39) |
L208F |
probably damaging |
Het |
| Zfp839 |
T |
A |
12: 110,833,195 (GRCm39) |
Y515* |
probably null |
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 |
|
|
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'- GGTACCCTGTAAGTCATCTGAC -3'
(R):5'- GTTAGTTAGTGTTCAGTAGCCAAAG -3'
Sequencing Primer
(F):5'- GCACTCTTTTTCACGTTTAG -3'
(R):5'- GCCAAGCCTGATAACTCGAGTTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation