Incidental Mutation 'IGL02006:Srl'
| ID |
183176 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srl
|
| Ensembl Gene |
ENSMUSG00000022519 |
| Gene Name |
sarcalumenin |
| Synonyms |
sarcalumenin, sar, 9830004M20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL02006
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4298080-4359680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4315150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 164
(E164G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023161]
[ENSMUST00000090500]
|
| AlphaFold |
Q7TQ48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023161
AA Change: E164G
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: E164G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
449 |
N/A |
INTRINSIC |
|
Pfam:EHD_N
|
496 |
528 |
1.7e-13 |
PFAM |
|
Pfam:MMR_HSR1
|
532 |
693 |
1.1e-8 |
PFAM |
|
Pfam:Dynamin_N
|
533 |
694 |
8.6e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090500
|
| SMART Domains |
Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:MMR_HSR1
|
94 |
255 |
4e-12 |
PFAM |
|
Pfam:Dynamin_N
|
95 |
256 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133440
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230817
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit impaired calcium store functions in skeletal and cardiac muscle cells resulting in slow contraction and relaxation phases. Muscle also exhibits enhanced resistance to fatigue. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,117,582 (GRCm39) |
G182S |
probably damaging |
Het |
| Akr1b7 |
A |
T |
6: 34,392,385 (GRCm39) |
N66I |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,031,893 (GRCm39) |
I42N |
probably damaging |
Het |
| Atp6v0d2 |
G |
T |
4: 19,878,325 (GRCm39) |
A316E |
probably damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,094,497 (GRCm39) |
V847A |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,713,479 (GRCm39) |
N1173D |
possibly damaging |
Het |
| Crb2 |
A |
C |
2: 37,676,475 (GRCm39) |
D152A |
probably damaging |
Het |
| Ecm1 |
T |
C |
3: 95,641,557 (GRCm39) |
E559G |
probably damaging |
Het |
| Ephb1 |
A |
G |
9: 102,071,971 (GRCm39) |
|
probably null |
Het |
| Fndc11 |
C |
A |
2: 180,863,884 (GRCm39) |
R230S |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,911,037 (GRCm39) |
|
probably null |
Het |
| Fyco1 |
G |
A |
9: 123,658,896 (GRCm39) |
Q427* |
probably null |
Het |
| Gm17541 |
A |
G |
12: 4,739,619 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
C |
T |
11: 48,779,330 (GRCm39) |
V809M |
probably damaging |
Het |
| Gm7293 |
A |
G |
9: 51,534,043 (GRCm39) |
|
noncoding transcript |
Het |
| Ift52 |
T |
C |
2: 162,865,289 (GRCm39) |
S47P |
probably benign |
Het |
| Iqcf6 |
A |
G |
9: 106,504,510 (GRCm39) |
D58G |
probably benign |
Het |
| Itm2b |
T |
C |
14: 73,600,488 (GRCm39) |
|
probably benign |
Het |
| Jakmip1 |
T |
C |
5: 37,278,331 (GRCm39) |
I536T |
probably damaging |
Het |
| Kcnh1 |
T |
G |
1: 191,873,323 (GRCm39) |
M3R |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 74,944,322 (GRCm39) |
P976T |
probably damaging |
Het |
| Layn |
G |
A |
9: 50,968,591 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,347,317 (GRCm39) |
Q3126L |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,092 (GRCm39) |
D180V |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,401,954 (GRCm39) |
C3066S |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,311,418 (GRCm39) |
|
probably null |
Het |
| Negr1 |
T |
C |
3: 156,721,810 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,557,226 (GRCm39) |
N940K |
probably benign |
Het |
| Nfkbib |
A |
T |
7: 28,465,667 (GRCm39) |
|
probably null |
Het |
| Nol4 |
T |
A |
18: 23,054,975 (GRCm39) |
T152S |
probably damaging |
Het |
| Oas3 |
G |
T |
5: 120,907,300 (GRCm39) |
R446S |
probably benign |
Het |
| Oosp3 |
C |
T |
19: 11,676,784 (GRCm39) |
L48F |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,449,025 (GRCm39) |
V29A |
probably benign |
Het |
| Or2w25 |
T |
C |
11: 59,503,985 (GRCm39) |
L65P |
probably damaging |
Het |
| Pik3ap1 |
C |
A |
19: 41,291,032 (GRCm39) |
W500L |
probably benign |
Het |
| Ppih |
A |
G |
4: 119,168,779 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
G |
T |
1: 143,636,084 (GRCm39) |
|
probably benign |
Het |
| Slc7a15 |
T |
C |
12: 8,585,508 (GRCm39) |
|
probably null |
Het |
| Tbx10 |
C |
A |
19: 4,048,186 (GRCm39) |
T237K |
probably damaging |
Het |
| Vwa5b2 |
T |
C |
16: 20,415,843 (GRCm39) |
V392A |
probably damaging |
Het |
| Wfdc5 |
A |
T |
2: 164,024,483 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,342,306 (GRCm39) |
F1516L |
possibly damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,683 (GRCm39) |
C414R |
probably damaging |
Het |
|
| Other mutations in Srl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00803:Srl
|
APN |
16 |
4,301,084 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01296:Srl
|
APN |
16 |
4,315,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02255:Srl
|
APN |
16 |
4,305,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02583:Srl
|
APN |
16 |
4,310,244 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0550:Srl
|
UTSW |
16 |
4,305,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Srl
|
UTSW |
16 |
4,314,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1933:Srl
|
UTSW |
16 |
4,310,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2093:Srl
|
UTSW |
16 |
4,340,896 (GRCm39) |
missense |
unknown |
|
|
R2298:Srl
|
UTSW |
16 |
4,300,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Srl
|
UTSW |
16 |
4,315,316 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4798:Srl
|
UTSW |
16 |
4,310,222 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4986:Srl
|
UTSW |
16 |
4,314,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5088:Srl
|
UTSW |
16 |
4,300,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Srl
|
UTSW |
16 |
4,314,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5260:Srl
|
UTSW |
16 |
4,300,759 (GRCm39) |
nonsense |
probably null |
|
|
R5988:Srl
|
UTSW |
16 |
4,340,892 (GRCm39) |
missense |
unknown |
|
|
R6875:Srl
|
UTSW |
16 |
4,300,695 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6946:Srl
|
UTSW |
16 |
4,300,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7221:Srl
|
UTSW |
16 |
4,300,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7262:Srl
|
UTSW |
16 |
4,315,415 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8307:Srl
|
UTSW |
16 |
4,315,009 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8976:Srl
|
UTSW |
16 |
4,300,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9193:Srl
|
UTSW |
16 |
4,311,723 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9424:Srl
|
UTSW |
16 |
4,301,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Srl
|
UTSW |
16 |
4,301,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9785:Srl
|
UTSW |
16 |
4,314,718 (GRCm39) |
missense |
probably benign |
|
|
X0023:Srl
|
UTSW |
16 |
4,310,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation