Incidental Mutation 'R9785:Srl'
| ID |
734301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srl
|
| Ensembl Gene |
ENSMUSG00000022519 |
| Gene Name |
sarcalumenin |
| Synonyms |
sarcalumenin, sar, 9830004M20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R9785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4298080-4359680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4314718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 308
(V308A)
|
| 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: V308A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: V308A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
C |
10: 61,049,427 (GRCm39) |
E634G |
possibly damaging |
Het |
| Adgre1 |
T |
C |
17: 57,785,930 (GRCm39) |
L892P |
probably damaging |
Het |
| Adgrl1 |
A |
T |
8: 84,665,168 (GRCm39) |
N1285I |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,473,594 (GRCm39) |
M803K |
probably benign |
Het |
| Armt1 |
T |
A |
10: 4,389,606 (GRCm39) |
W88R |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,824,300 (GRCm39) |
|
probably null |
Het |
| Cd27 |
G |
A |
6: 125,213,945 (GRCm39) |
|
probably benign |
Het |
| Cebpb |
A |
G |
2: 167,531,663 (GRCm39) |
D241G |
probably damaging |
Het |
| Clec3b |
T |
A |
9: 122,985,997 (GRCm39) |
W132R |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,015,028 (GRCm39) |
S1185C |
unknown |
Het |
| Csn2 |
A |
T |
5: 87,842,502 (GRCm39) |
V175D |
possibly damaging |
Het |
| Dnm1 |
A |
T |
2: 32,223,089 (GRCm39) |
C442S |
possibly damaging |
Het |
| Dstyk |
C |
T |
1: 132,381,038 (GRCm39) |
T511I |
probably damaging |
Het |
| Gabra5 |
C |
T |
7: 57,140,584 (GRCm39) |
V38I |
probably benign |
Het |
| Gjd2 |
A |
T |
2: 113,841,747 (GRCm39) |
Y243* |
probably null |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
G |
A |
3: 93,238,861 (GRCm39) |
R3033H |
unknown |
Het |
| Ivd |
G |
T |
2: 118,710,970 (GRCm39) |
R393L |
probably damaging |
Het |
| Jam2 |
T |
C |
16: 84,571,397 (GRCm39) |
L8P |
unknown |
Het |
| Klhdc7b |
G |
T |
15: 89,272,621 (GRCm39) |
D510Y |
probably damaging |
Het |
| Lgals8 |
A |
T |
13: 12,462,051 (GRCm39) |
F260I |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,908,708 (GRCm39) |
I660T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,180,090 (GRCm39) |
A12T |
unknown |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or5d47 |
T |
C |
2: 87,804,245 (GRCm39) |
T255A |
possibly damaging |
Het |
| Rprm |
C |
T |
2: 53,975,238 (GRCm39) |
V27M |
probably benign |
Het |
| Scg3 |
G |
T |
9: 75,589,322 (GRCm39) |
D110E |
probably damaging |
Het |
| Selenon |
C |
T |
4: 134,270,374 (GRCm39) |
G326D |
probably damaging |
Het |
| Sh3gl2 |
T |
A |
4: 85,273,618 (GRCm39) |
Y57N |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,740,884 (GRCm39) |
L807M |
possibly damaging |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,489 (GRCm39) |
T14S |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,041,970 (GRCm39) |
E2150G |
probably benign |
Het |
| Vmn2r104 |
G |
A |
17: 20,268,409 (GRCm39) |
T20I |
probably benign |
Het |
| Wnt1 |
G |
T |
15: 98,688,752 (GRCm39) |
V38L |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,194,271 (GRCm39) |
T740M |
possibly damaging |
Het |
| Zdhhc6 |
T |
C |
19: 55,300,203 (GRCm39) |
M125V |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,120,233 (GRCm39) |
M225V |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 80,673,245 (GRCm39) |
V70F |
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 |
|
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 |
|
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 |
|
X0023:Srl
|
UTSW |
16 |
4,310,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAGCTCCATCACCACTG -3'
(R):5'- ATACCTGCCGGAGATGAATCG -3'
Sequencing Primer
(F):5'- CTCCAGACTCTTCTTTAAATGGAAC -3'
(R):5'- CCGGAGATGAATCGGAAGCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation