Incidental Mutation 'R9785:Srl'
ID 734301
Institutional Source Beutler Lab
Gene Symbol Srl
Ensembl Gene ENSMUSG00000022519
Gene Name sarcalumenin
Synonyms sarcalumenin, 9830004M20Rik, sar
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R9785 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 4480216-4541816 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4496854 bp (GRCm38)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T C 10: 61,213,648 E634G possibly damaging Het
Adgre1 T C 17: 57,478,930 L892P probably damaging Het
Adgrl1 A T 8: 83,938,539 N1285I probably damaging Het
Alpk1 A T 3: 127,679,945 M803K probably benign Het
Armt1 T A 10: 4,439,606 W88R probably damaging Het
C530008M17Rik A T 5: 76,867,181 S1185C unknown Het
Cacna1d A T 14: 30,102,343 probably null Het
Cd27 G A 6: 125,236,982 probably benign Het
Cebpb A G 2: 167,689,743 D241G probably damaging Het
Clec3b T A 9: 123,156,932 W132R probably damaging Het
Csn2 A T 5: 87,694,643 V175D possibly damaging Het
Dnm1 A T 2: 32,333,077 C442S possibly damaging Het
Dstyk C T 1: 132,453,300 T511I probably damaging Het
Gabra5 C T 7: 57,490,836 V38I probably benign Het
Gjd2 A T 2: 114,011,266 Y243* probably null Het
Gtf2b AATCATC AATC 3: 142,771,417 probably benign Het
Hrnr G A 3: 93,331,554 R3033H unknown Het
Ivd G T 2: 118,880,489 R393L probably damaging Het
Jam2 T C 16: 84,774,509 L8P unknown Het
Klhdc7b G T 15: 89,388,418 D510Y probably damaging Het
Lgals8 A T 13: 12,447,170 F260I probably damaging Het
Lrrd1 T C 5: 3,858,708 I660T probably damaging Het
Mcm5 C T 8: 75,117,540 S313F probably benign Het
Npc1l1 C T 11: 6,230,090 A12T unknown Het
Olfr1406 C T 1: 173,183,891 R181H probably benign Het
Olfr74 T C 2: 87,973,901 T255A possibly damaging Het
Rprm C T 2: 54,085,226 V27M probably benign Het
Scg3 G T 9: 75,682,040 D110E probably damaging Het
Selenon C T 4: 134,543,063 G326D probably damaging Het
Sh3gl2 T A 4: 85,355,381 Y57N probably damaging Het
Skint6 A T 4: 112,883,687 L807M possibly damaging Het
Tcf7 T A 11: 52,282,946 probably benign Het
Trdv2-2 A T 14: 53,961,032 T14S probably benign Het
Usf3 A G 16: 44,221,607 E2150G probably benign Het
Vmn2r104 G A 17: 20,048,147 T20I probably benign Het
Wnt1 G T 15: 98,790,871 V38L probably benign Het
Zbtb17 C T 4: 141,466,960 T740M possibly damaging Het
Zdhhc6 T C 19: 55,311,771 M125V probably damaging Het
Zfp202 A G 9: 40,208,937 M225V probably benign Het
Zfp592 G T 7: 81,023,497 V70F probably damaging Het
Other mutations in Srl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00803:Srl APN 16 4483220 missense probably null 1.00
IGL01296:Srl APN 16 4497682 missense probably damaging 0.99
IGL02006:Srl APN 16 4497286 missense probably benign 0.23
IGL02255:Srl APN 16 4487558 missense probably damaging 1.00
IGL02583:Srl APN 16 4492380 missense possibly damaging 0.69
R0550:Srl UTSW 16 4487565 missense probably damaging 1.00
R0559:Srl UTSW 16 4496978 missense probably benign 0.01
R1933:Srl UTSW 16 4492350 missense probably damaging 0.99
R2093:Srl UTSW 16 4523032 missense unknown
R2298:Srl UTSW 16 4482898 missense probably damaging 1.00
R4093:Srl UTSW 16 4497452 missense possibly damaging 0.93
R4798:Srl UTSW 16 4492358 missense possibly damaging 0.51
R4986:Srl UTSW 16 4496782 missense probably benign 0.00
R5088:Srl UTSW 16 4482769 missense probably damaging 1.00
R5177:Srl UTSW 16 4496403 critical splice donor site probably null
R5260:Srl UTSW 16 4482895 nonsense probably null
R5988:Srl UTSW 16 4523028 missense unknown
R6875:Srl UTSW 16 4482831 missense probably benign 0.02
R6946:Srl UTSW 16 4482559 missense probably benign 0.00
R7221:Srl UTSW 16 4482947 missense probably damaging 0.99
R7262:Srl UTSW 16 4497551 missense probably damaging 0.96
R8307:Srl UTSW 16 4497145 missense probably benign 0.01
R8976:Srl UTSW 16 4483030 missense probably damaging 1.00
R9193:Srl UTSW 16 4493859 missense possibly damaging 0.77
R9424:Srl UTSW 16 4483167 missense probably damaging 1.00
R9576:Srl UTSW 16 4483167 missense probably damaging 1.00
X0023:Srl UTSW 16 4492368 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