Incidental Mutation 'IGL02255:Srl'
| ID |
286564 |
| 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 # |
IGL02255
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4298080-4359680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4305422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 541
(V541D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023161]
[ENSMUST00000090500]
|
| AlphaFold |
Q7TQ48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023161
AA Change: V541D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: V541D
| 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 damaging
Transcript: ENSMUST00000090500
AA Change: V103D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519
AA Change: V103D
| 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: ENSMUST00000133440
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
C |
T |
12: 84,088,799 (GRCm39) |
L216F |
probably damaging |
Het |
| Acp7 |
C |
T |
7: 28,314,148 (GRCm39) |
C349Y |
probably damaging |
Het |
| Cdc42ep5 |
G |
A |
7: 4,154,399 (GRCm39) |
Q130* |
probably null |
Het |
| Cip2a |
T |
A |
16: 48,831,176 (GRCm39) |
D541E |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,301,052 (GRCm39) |
I2353T |
probably benign |
Het |
| Dnmt3a |
T |
A |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
| Dtx3l |
A |
G |
16: 35,753,706 (GRCm39) |
V300A |
probably benign |
Het |
| Fbxo15 |
G |
T |
18: 84,982,321 (GRCm39) |
|
probably null |
Het |
| Fbxw22 |
C |
A |
9: 109,215,619 (GRCm39) |
|
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,772,079 (GRCm39) |
|
probably null |
Het |
| Gli3 |
T |
A |
13: 15,823,304 (GRCm39) |
I342N |
probably damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,785 (GRCm39) |
N657I |
possibly damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,372,290 (GRCm39) |
I766N |
probably damaging |
Het |
| Or5b119 |
T |
A |
19: 13,457,349 (GRCm39) |
Y71F |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,654,325 (GRCm39) |
I244N |
probably damaging |
Het |
| Ret |
G |
T |
6: 118,152,081 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
T |
19: 41,861,410 (GRCm39) |
F966I |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,647,715 (GRCm39) |
I681V |
probably benign |
Het |
| Selenof |
T |
C |
3: 144,302,588 (GRCm39) |
V121A |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,910,047 (GRCm39) |
E184G |
probably benign |
Het |
| Vmn2r81 |
G |
A |
10: 79,083,806 (GRCm39) |
W60* |
probably null |
Het |
| Zfp526 |
A |
G |
7: 24,924,958 (GRCm39) |
M406V |
possibly 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 |
|
IGL02006:Srl
|
APN |
16 |
4,315,150 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
2015-04-16 |
Incidental Mutation