Incidental Mutation 'R4986:Srl'
| ID |
385893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srl
|
| Ensembl Gene |
ENSMUSG00000022519 |
| Gene Name |
sarcalumenin |
| Synonyms |
sarcalumenin, sar, 9830004M20Rik |
| MMRRC Submission |
042580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R4986 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4298080-4359680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4314646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 332
(Y332C)
|
| 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: Y332C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: Y332C
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.2%
|
| Validation Efficiency |
95% (41/43) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,573,317 (GRCm39) |
C1005S |
probably benign |
Het |
| Armh4 |
A |
T |
14: 49,989,111 (GRCm39) |
D619E |
probably damaging |
Het |
| Ccdc34 |
T |
C |
2: 109,848,214 (GRCm39) |
M1T |
probably null |
Het |
| Ceacam5 |
T |
A |
7: 17,491,758 (GRCm39) |
N709K |
possibly damaging |
Het |
| Ces2f |
G |
A |
8: 105,678,657 (GRCm39) |
S298N |
probably benign |
Het |
| Defa30 |
T |
A |
8: 21,625,432 (GRCm39) |
Y65* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,809,182 (GRCm39) |
C1314G |
probably damaging |
Het |
| Emc2 |
A |
G |
15: 43,375,180 (GRCm39) |
M226V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,636 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,431,037 (GRCm39) |
D560G |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,760 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
T |
14: 45,483,743 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
C |
T |
16: 21,889,056 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,236,027 (GRCm39) |
T1385A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,141,840 (GRCm39) |
N1734I |
probably damaging |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,049 (GRCm39) |
H248R |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,284,914 (GRCm39) |
R5650Q |
probably damaging |
Het |
| Mdh1 |
A |
G |
11: 21,508,545 (GRCm39) |
F266L |
possibly damaging |
Het |
| Mecom |
G |
T |
3: 30,034,848 (GRCm39) |
P466Q |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,598,009 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,772 (GRCm39) |
N170Y |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,687,858 (GRCm39) |
L113Q |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,846,061 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,492 (GRCm39) |
Y4179* |
probably null |
Het |
| Septin11 |
T |
C |
5: 93,309,100 (GRCm39) |
V203A |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,910 (GRCm39) |
T173S |
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,925,541 (GRCm39) |
R296S |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,037,592 (GRCm39) |
*93C |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,000 (GRCm39) |
H95Y |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
| Ybx1 |
C |
T |
4: 119,139,627 (GRCm39) |
V123I |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,211 (GRCm39) |
H345Q |
probably damaging |
Het |
| Zfp993 |
T |
A |
4: 146,742,014 (GRCm39) |
F113I |
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 |
|
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 |
|
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'- ATCTTCCACATCAAGCTGGGG -3'
(R):5'- TACATGCAGCCTCTGACAC -3'
Sequencing Primer
(F):5'- CATGTCCTGTGGCTCCTGG -3'
(R):5'- ACACGGCATCTTCTGGAGTAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation