Incidental Mutation 'R9763:Slmap'
| ID |
735835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slmap
|
| Ensembl Gene |
ENSMUSG00000021870 |
| Gene Name |
sarcolemma associated protein |
| Synonyms |
Slap, D330001L02Rik, Miranda |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9763 (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 26204118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 68
(Y68H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038522]
[ENSMUST00000090359]
[ENSMUST00000102956]
[ENSMUST00000112330]
[ENSMUST00000139075]
|
| AlphaFold |
Q3URD3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038522
AA Change: Y68H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046956
Gene: ENSMUSG00000021870
AA Change: Y68H
| 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: ENSMUST00000090359
AA Change: Y68H
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087836
Gene: ENSMUSG00000021870
AA Change: Y68H
| 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: Y68H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100021
Gene: ENSMUSG00000021870
AA Change: Y68H
| 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: Y68H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107949
Gene: ENSMUSG00000021870
AA Change: Y68H
| 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: ENSMUST00000139075
AA Change: Y68H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117816
Gene: ENSMUSG00000021870
AA Change: Y68H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,302,717 (GRCm39) |
D2167E |
possibly damaging |
Het |
| Acadsb |
T |
A |
7: 131,045,327 (GRCm39) |
Y420N |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,014,126 (GRCm39) |
L176Q |
probably damaging |
Het |
| Amdhd1 |
T |
A |
10: 93,367,398 (GRCm39) |
K252M |
possibly damaging |
Het |
| Aspa |
C |
A |
11: 73,213,094 (GRCm39) |
E83* |
probably null |
Het |
| Atat1 |
A |
G |
17: 36,220,899 (GRCm39) |
L10P |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,869,919 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdkal1 |
A |
T |
13: 29,809,692 (GRCm39) |
C217* |
probably null |
Het |
| Cttnbp2 |
C |
T |
6: 18,435,240 (GRCm39) |
S206N |
probably benign |
Het |
| Dner |
A |
T |
1: 84,361,656 (GRCm39) |
I651N |
possibly damaging |
Het |
| Efcab3 |
G |
A |
11: 104,890,485 (GRCm39) |
G4189E |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 63,982,438 (GRCm39) |
V91A |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,805,421 (GRCm39) |
D404G |
probably damaging |
Het |
| Gm13941 |
A |
G |
2: 110,931,518 (GRCm39) |
L38S |
unknown |
Het |
| Golph3l |
G |
A |
3: 95,517,085 (GRCm39) |
E198K |
possibly damaging |
Het |
| Hecw2 |
A |
C |
1: 53,963,074 (GRCm39) |
D812E |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,587,835 (GRCm39) |
E212V |
possibly damaging |
Het |
| Il6st |
C |
T |
13: 112,627,051 (GRCm39) |
S281F |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
T |
G |
15: 101,646,757 (GRCm39) |
K317T |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,760,020 (GRCm39) |
F72S |
probably damaging |
Het |
| Map3k1 |
C |
T |
13: 111,912,499 (GRCm39) |
R174H |
probably damaging |
Het |
| Marveld3 |
T |
A |
8: 110,688,375 (GRCm39) |
H122L |
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,174 (GRCm39) |
S184P |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,699,482 (GRCm39) |
G282* |
probably null |
Het |
| Myo16 |
T |
A |
8: 10,450,528 (GRCm39) |
M510K |
unknown |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Or10a3 |
T |
A |
7: 108,480,874 (GRCm39) |
|
probably benign |
Het |
| Or10a3n |
T |
G |
7: 108,493,210 (GRCm39) |
I140L |
probably benign |
Het |
| Or3a1d |
T |
C |
11: 74,238,041 (GRCm39) |
Y3C |
probably damaging |
Het |
| Or4e5 |
T |
G |
14: 52,728,307 (GRCm39) |
Y38S |
probably damaging |
Het |
| Or8j3 |
A |
T |
2: 86,028,181 (GRCm39) |
M305K |
probably benign |
Het |
| Or9g20 |
T |
G |
2: 85,630,060 (GRCm39) |
N185H |
possibly damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,376 (GRCm39) |
Y843H |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,903,867 (GRCm39) |
V242A |
possibly damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,865,261 (GRCm39) |
M717L |
probably benign |
Het |
| Rnf150 |
T |
C |
8: 83,732,968 (GRCm39) |
S272P |
probably benign |
Het |
| Rtraf |
A |
G |
14: 19,866,314 (GRCm39) |
V134A |
probably damaging |
Het |
| Rubcnl |
T |
A |
14: 75,287,108 (GRCm39) |
L592* |
probably null |
Het |
| Slc23a1 |
A |
G |
18: 35,755,364 (GRCm39) |
S484P |
probably damaging |
Het |
| Speer4b |
C |
A |
5: 27,705,206 (GRCm39) |
V56L |
probably damaging |
Het |
| Sycp2l |
T |
A |
13: 41,306,232 (GRCm39) |
S84T |
|
Het |
| Syne1 |
T |
C |
10: 5,007,858 (GRCm39) |
D122G |
probably benign |
Het |
| Timd2 |
G |
T |
11: 46,573,540 (GRCm39) |
P155T |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,223,923 (GRCm39) |
R1401Q |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,309,125 (GRCm39) |
D312Y |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,818,860 (GRCm39) |
T1094A |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,186,988 (GRCm39) |
Y465N |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,062,531 (GRCm39) |
L530P |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,425,965 (GRCm39) |
T100S |
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 |
|
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 |
|
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'- ATCCTATGCAGATAAGCGACAGG -3'
(R):5'- ACACAATCTGCTTGGCTCTACC -3'
Sequencing Primer
(F):5'- GCGACAGGAAGGACCAATCATAC -3'
(R):5'- TGGCTCTACCATATGTTCAGTTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation