Incidental Mutation 'R7544:Slmap'
| ID |
584111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slmap
|
| Ensembl Gene |
ENSMUSG00000021870 |
| Gene Name |
sarcolemma associated protein |
| Synonyms |
Slap, D330001L02Rik, Miranda |
| MMRRC Submission |
045616-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7544 (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 A
at 26151001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 522
(E522D)
|
| 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: E501D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: E501D
| 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: E505D
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: E505D
| 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: E501D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: E501D
| 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 |
possibly damaging
Transcript: ENSMUST00000112330
AA Change: E467D
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: E467D
| 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: E367D
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107950
Gene: ENSMUSG00000021870
AA Change: E367D
| 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: E522D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: E522D
| 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: E112D
| 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: E153D
| 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: 99.0%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,089,765 (GRCm39) |
V40I |
probably damaging |
Het |
| Abcb11 |
T |
C |
2: 69,095,830 (GRCm39) |
K837E |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,029,854 (GRCm39) |
S919P |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,431 (GRCm39) |
S530P |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,792,204 (GRCm39) |
E268G |
possibly damaging |
Het |
| Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,062,007 (GRCm39) |
L40V |
probably damaging |
Het |
| Cd28 |
A |
T |
1: 60,808,859 (GRCm39) |
N191I |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,645,936 (GRCm39) |
T588M |
not run |
Het |
| Csmd1 |
T |
C |
8: 16,142,310 (GRCm39) |
E1531G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,283 (GRCm39) |
D398V |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,262,434 (GRCm39) |
S2901P |
probably damaging |
Het |
| Ddx11 |
G |
A |
17: 66,433,280 (GRCm39) |
G37S |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,026,322 (GRCm39) |
|
probably null |
Het |
| Ech1 |
T |
C |
7: 28,525,392 (GRCm39) |
V49A |
probably benign |
Het |
| Elovl4 |
T |
C |
9: 83,665,271 (GRCm39) |
Y196C |
probably damaging |
Het |
| Ern2 |
G |
A |
7: 121,772,422 (GRCm39) |
L679F |
probably benign |
Het |
| Fbf1 |
A |
T |
11: 116,056,659 (GRCm39) |
M17K |
probably benign |
Het |
| Flvcr1 |
C |
A |
1: 190,758,143 (GRCm39) |
G50W |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,238,382 (GRCm39) |
S1455P |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,716 (GRCm39) |
Y390H |
probably damaging |
Het |
| Gnai3 |
C |
T |
3: 108,025,702 (GRCm39) |
V126M |
|
Het |
| Gpc5 |
T |
C |
14: 115,665,585 (GRCm39) |
F470L |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,195,086 (GRCm39) |
N332S |
probably benign |
Het |
| Gtf3c5 |
T |
A |
2: 28,469,554 (GRCm39) |
I117F |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,316,157 (GRCm39) |
S4350C |
probably benign |
Het |
| Kcnh4 |
G |
T |
11: 100,647,906 (GRCm39) |
H152Q |
probably benign |
Het |
| Kcnk12 |
A |
T |
17: 88,053,493 (GRCm39) |
S390T |
possibly damaging |
Het |
| Klra9 |
T |
G |
6: 130,168,183 (GRCm39) |
T28P |
probably benign |
Het |
| Lef1 |
T |
A |
3: 130,988,414 (GRCm39) |
I327N |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,633,129 (GRCm39) |
V185A |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,506,274 (GRCm39) |
E1898G |
probably benign |
Het |
| Lrrc4b |
A |
T |
7: 44,111,975 (GRCm39) |
I616F |
probably damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,463,770 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Mars1 |
T |
C |
10: 127,147,479 (GRCm39) |
E7G |
probably benign |
Het |
| Mpnd |
G |
A |
17: 56,318,666 (GRCm39) |
R225H |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,555,016 (GRCm39) |
M1K |
probably null |
Het |
| Nckap5 |
A |
G |
1: 125,953,948 (GRCm39) |
L868S |
possibly damaging |
Het |
| Ndst1 |
G |
A |
18: 60,830,256 (GRCm39) |
T618M |
probably damaging |
Het |
| Npas1 |
A |
T |
7: 16,194,899 (GRCm39) |
|
probably null |
Het |
| Nr2f2 |
A |
T |
7: 70,004,499 (GRCm39) |
V384D |
probably damaging |
Het |
| Or10a3b |
A |
G |
7: 108,444,528 (GRCm39) |
S230P |
probably benign |
Het |
| Or1e19 |
A |
G |
11: 73,316,596 (GRCm39) |
L71P |
probably damaging |
Het |
| Or4p8 |
T |
A |
2: 88,727,705 (GRCm39) |
I79F |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,582,337 (GRCm39) |
F188I |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,086,776 (GRCm39) |
I320L |
probably benign |
Het |
| Peg10 |
TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC |
T |
6: 4,756,427 (GRCm39) |
|
probably null |
Het |
| Pgpep1 |
C |
T |
8: 71,103,168 (GRCm39) |
G110R |
unknown |
Het |
| Pidd1 |
T |
A |
7: 141,020,252 (GRCm39) |
H558L |
possibly damaging |
Het |
| Ppp1r1a |
C |
T |
15: 103,439,776 (GRCm39) |
|
probably null |
Het |
| Pramel18 |
T |
C |
4: 101,768,599 (GRCm39) |
S317P |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,142,850 (GRCm39) |
Y451F |
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,359,081 (GRCm39) |
D96G |
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,203,899 (GRCm39) |
N154S |
probably benign |
Het |
| Psg17 |
A |
G |
7: 18,553,897 (GRCm39) |
Y118H |
probably benign |
Het |
| Ptpn12 |
A |
G |
5: 21,214,509 (GRCm39) |
I209T |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,181,276 (GRCm39) |
K1835* |
probably null |
Het |
| Sf3b3 |
T |
C |
8: 111,564,915 (GRCm39) |
M298V |
probably benign |
Het |
| Slc5a3 |
T |
A |
16: 91,874,682 (GRCm39) |
N246K |
probably benign |
Het |
| Tcp10c |
T |
A |
17: 13,581,260 (GRCm39) |
L230Q |
probably damaging |
Het |
| Tdo2 |
A |
G |
3: 81,878,942 (GRCm39) |
|
probably null |
Het |
| Tet3 |
A |
T |
6: 83,381,623 (GRCm39) |
W182R |
probably damaging |
Het |
| Tmem151a |
T |
A |
19: 5,121,895 (GRCm39) |
M35L |
unknown |
Het |
| Tom1l2 |
TTGATGATG |
TTGATG |
11: 60,171,040 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
A |
T |
1: 58,960,227 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
T |
A |
8: 47,975,449 (GRCm39) |
E256D |
possibly damaging |
Het |
| Trim62 |
C |
T |
4: 128,796,346 (GRCm39) |
T281I |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,081,021 (GRCm39) |
E115G |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,620,837 (GRCm39) |
T10A |
probably benign |
Het |
| Urah |
A |
T |
7: 140,415,565 (GRCm39) |
H11L |
probably damaging |
Het |
| Usp39 |
G |
A |
6: 72,319,891 (GRCm39) |
T109I |
probably damaging |
Het |
| Wfikkn2 |
T |
C |
11: 94,128,738 (GRCm39) |
T468A |
probably benign |
Het |
| Zfhx4 |
T |
G |
3: 5,477,875 (GRCm39) |
S3497A |
probably damaging |
Het |
| Zfp85 |
C |
T |
13: 67,897,184 (GRCm39) |
R296H |
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 |
|
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 |
|
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'- TACACTGGTTGTTGGAGCATC -3'
(R):5'- GTGCTTACCCTAATTTGCTTCTAAG -3'
Sequencing Primer
(F):5'- CACTGGTTGTTGGAGCATCTAACATC -3'
(R):5'- AGAGTGCCAGACTTTAGTT -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation