Incidental Mutation 'R8112:Slmap'
| ID |
630955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slmap
|
| Ensembl Gene |
ENSMUSG00000021870 |
| Gene Name |
sarcolemma associated protein |
| Synonyms |
Slap, D330001L02Rik, Miranda |
| MMRRC Submission |
067541-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26134323-26256086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26143703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 728
(L728P)
|
| 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: L707P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: L707P
| 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: L711P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: L711P
| 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: L707P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: L707P
| 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: ENSMUST00000112330
AA Change: L673P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: L673P
| 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 damaging
Transcript: ENSMUST00000112331
AA Change: L573P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: L573P
| 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: L728P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: L728P
| 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: L318P
| 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: L359P
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 95.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,264,624 (GRCm39) |
V3002A |
probably benign |
Het |
| Aifm3 |
T |
C |
16: 17,320,804 (GRCm39) |
V422A |
probably damaging |
Het |
| Alx3 |
G |
T |
3: 107,512,300 (GRCm39) |
E313* |
probably null |
Het |
| Arfgef3 |
A |
G |
10: 18,528,379 (GRCm39) |
V336A |
possibly damaging |
Het |
| Art5 |
A |
T |
7: 101,747,218 (GRCm39) |
V187E |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,721,433 (GRCm39) |
V154A |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,702 (GRCm39) |
D139G |
probably damaging |
Het |
| Cbx5 |
A |
G |
15: 103,108,171 (GRCm39) |
V158A |
probably benign |
Het |
| Cdca7l |
T |
C |
12: 117,840,779 (GRCm39) |
|
probably null |
Het |
| Cecr2 |
T |
C |
6: 120,739,175 (GRCm39) |
S1301P |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,538,012 (GRCm39) |
S80T |
probably benign |
Het |
| Cyp2g1 |
T |
A |
7: 26,518,886 (GRCm39) |
D427E |
probably benign |
Het |
| Depdc5 |
G |
A |
5: 33,126,050 (GRCm39) |
V1199I |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,841,026 (GRCm39) |
V3643A |
unknown |
Het |
| Ehmt1 |
G |
T |
2: 24,753,396 (GRCm39) |
L335M |
probably damaging |
Het |
| Elfn2 |
A |
G |
15: 78,557,635 (GRCm39) |
V304A |
probably damaging |
Het |
| Emc1 |
C |
T |
4: 139,094,498 (GRCm39) |
R684W |
probably benign |
Het |
| Eme2 |
A |
T |
17: 25,113,809 (GRCm39) |
V72E |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,304,374 (GRCm39) |
K230* |
probably null |
Het |
| Gfap |
T |
A |
11: 102,787,928 (GRCm39) |
I6F |
probably benign |
Het |
| Grid2 |
T |
C |
6: 63,885,891 (GRCm39) |
S96P |
probably damaging |
Het |
| H2-M2 |
A |
G |
17: 37,794,383 (GRCm39) |
L13P |
unknown |
Het |
| Hps4 |
T |
G |
5: 112,517,977 (GRCm39) |
C323W |
probably benign |
Het |
| Ing3 |
A |
G |
6: 21,952,181 (GRCm39) |
K52E |
probably damaging |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Krt4 |
T |
A |
15: 101,828,724 (GRCm39) |
N380I |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,441,715 (GRCm39) |
C174S |
probably damaging |
Het |
| Lrrc8e |
T |
C |
8: 4,285,575 (GRCm39) |
I600T |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
| Mindy1 |
T |
C |
3: 95,202,122 (GRCm39) |
L333P |
probably damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,682 (GRCm39) |
S77P |
probably damaging |
Het |
| Mtus2 |
G |
T |
5: 148,013,713 (GRCm39) |
E169* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,765 (GRCm39) |
T2904A |
possibly damaging |
Het |
| Noxa1 |
C |
T |
2: 24,982,553 (GRCm39) |
|
probably null |
Het |
| Ogfod3 |
G |
A |
11: 121,095,376 (GRCm39) |
R5W |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,872,982 (GRCm39) |
I132F |
probably damaging |
Het |
| Or7g35 |
T |
A |
9: 19,496,020 (GRCm39) |
F62L |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,864,753 (GRCm39) |
S274P |
probably damaging |
Het |
| Pgm3 |
C |
A |
9: 86,446,828 (GRCm39) |
R230L |
probably benign |
Het |
| Plpbp |
A |
G |
8: 27,536,069 (GRCm39) |
I121V |
unknown |
Het |
| Prl8a9 |
T |
C |
13: 27,743,355 (GRCm39) |
D150G |
probably benign |
Het |
| Psapl1 |
A |
G |
5: 36,362,919 (GRCm39) |
N504D |
probably benign |
Het |
| Ptchd4 |
A |
C |
17: 42,814,066 (GRCm39) |
N656H |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,741,532 (GRCm39) |
Y577* |
probably null |
Het |
| Rasgef1c |
A |
G |
11: 49,858,228 (GRCm39) |
Y263C |
probably damaging |
Het |
| Rinl |
A |
G |
7: 28,490,014 (GRCm39) |
|
probably null |
Het |
| Scd4 |
T |
C |
19: 44,325,945 (GRCm39) |
F100L |
probably benign |
Het |
| Scgb2b20 |
T |
G |
7: 33,063,969 (GRCm39) |
R100S |
probably benign |
Het |
| Scn8a |
C |
T |
15: 100,927,718 (GRCm39) |
A1399V |
probably benign |
Het |
| Slc22a7 |
A |
G |
17: 46,747,756 (GRCm39) |
V267A |
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,372,440 (GRCm39) |
E263G |
possibly damaging |
Het |
| Smarcb1 |
A |
T |
10: 75,745,986 (GRCm39) |
|
probably null |
Het |
| Sspn |
T |
C |
6: 145,901,361 (GRCm39) |
V80A |
possibly damaging |
Het |
| Tasor2 |
A |
T |
13: 3,619,516 (GRCm39) |
D2238E |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,195,399 (GRCm39) |
T581A |
probably benign |
Het |
| Themis |
A |
G |
10: 28,673,502 (GRCm39) |
*596W |
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,669,501 (GRCm39) |
F1341S |
probably benign |
Het |
| Trac |
T |
C |
14: 54,460,557 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
T |
C |
11: 87,109,093 (GRCm39) |
F940S |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,974,490 (GRCm39) |
T231A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,529 (GRCm39) |
I23455V |
probably benign |
Het |
| Wap |
G |
T |
11: 6,586,724 (GRCm39) |
T125K |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Zfp85 |
T |
C |
13: 67,896,893 (GRCm39) |
D393G |
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 |
|
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'- TAAGTAGCATGGATGTCTGATTTGCC -3'
(R):5'- GGGATACAGCTTCAAACTTAAAGG -3'
Sequencing Primer
(F):5'- CTTTGGCTTTAAGTCCAACCATAAC -3'
(R):5'- ATGCCTTTTCCTTACTAAAAGTGTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation