Incidental Mutation 'R0559:Srl'
| ID |
45807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srl
|
| Ensembl Gene |
ENSMUSG00000022519 |
| Gene Name |
sarcalumenin |
| Synonyms |
sarcalumenin, sar, 9830004M20Rik |
| MMRRC Submission |
038751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R0559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4298080-4359680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4314842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 267
(P267S)
|
| 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: P267S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: P267S
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (34/35) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
| Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
| Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
| Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
| Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
| Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
| Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
| Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
| Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
| Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,021,985 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACATCAAGCTGGGGACCTTC -3'
(R):5'- AGGGACAGCAGAGTCTGTAGTCAC -3'
Sequencing Primer
(F):5'- ATTGGCCTCTATAGCTGAACC -3'
(R):5'- AGAGTCTGTAGTCACCCAGTC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation