Incidental Mutation 'R5260:Srl'
ID 401405
Institutional Source Beutler Lab
Gene Symbol Srl
Ensembl Gene ENSMUSG00000022519
Gene Name sarcalumenin
Synonyms sarcalumenin, sar, 9830004M20Rik
MMRRC Submission 042829-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5260 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 4298080-4359680 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 4300759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 333 (R333*)
Ref Sequence ENSEMBL: ENSMUSP00000087986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023161] [ENSMUST00000090500]
AlphaFold Q7TQ48
Predicted Effect probably null
Transcript: ENSMUST00000023161
AA Change: R771*
SMART Domains Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: R771*

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 null
Transcript: ENSMUST00000090500
AA Change: R333*
SMART Domains Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519
AA Change: R333*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133440
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (77/78)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,461,003 (GRCm39) I14F probably damaging Het
Acin1 T C 14: 54,880,279 (GRCm39) probably benign Het
Adamts9 C A 6: 92,784,118 (GRCm39) V1579L probably benign Het
Adra2a T A 19: 54,035,039 (GRCm39) C132S probably damaging Het
Aif1 T A 17: 35,390,917 (GRCm39) probably null Het
Atf5 A T 7: 44,464,510 (GRCm39) Y27* probably null Het
Atm A G 9: 53,417,911 (GRCm39) S799P probably damaging Het
Bmp2k T G 5: 97,235,210 (GRCm39) probably benign Het
Chaf1a C T 17: 56,372,000 (GRCm39) H723Y probably damaging Het
Clint1 T C 11: 45,798,769 (GRCm39) W493R probably damaging Het
Cyb561a3 T A 19: 10,565,230 (GRCm39) V198D possibly damaging Het
Cyp2j8 T C 4: 96,389,301 (GRCm39) E174G possibly damaging Het
Cyp4v3 C T 8: 45,760,017 (GRCm39) G512S probably damaging Het
Dnah8 T A 17: 30,919,393 (GRCm39) V1122D probably benign Het
Doc2b C A 11: 75,676,989 (GRCm39) G128V probably damaging Het
Dysf T C 6: 84,127,016 (GRCm39) V1378A probably damaging Het
Efcab5 A T 11: 77,028,477 (GRCm39) S421T possibly damaging Het
Efcab6 T G 15: 83,829,324 (GRCm39) D672A probably benign Het
Eif2ak3 C A 6: 70,870,113 (GRCm39) H933Q probably damaging Het
Erc1 A T 6: 119,738,120 (GRCm39) N574K probably damaging Het
Eri2 A T 7: 119,387,069 (GRCm39) probably benign Het
Faxc A G 4: 21,948,744 (GRCm39) Y152C probably damaging Het
Fbxl7 T A 15: 26,543,585 (GRCm39) Y354F probably damaging Het
Fras1 T A 5: 96,883,046 (GRCm39) I2526N possibly damaging Het
Gm5424 A T 10: 61,907,374 (GRCm39) noncoding transcript Het
Gm6728 T C 6: 136,463,701 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,733,503 (GRCm39) S917C probably benign Het
Gtpbp3 T C 8: 71,942,062 (GRCm39) probably benign Het
Gusb A T 5: 130,028,829 (GRCm39) Y220* probably null Het
Gvin3 A G 7: 106,198,411 (GRCm39) noncoding transcript Het
Hmcn1 A G 1: 150,471,612 (GRCm39) V4914A possibly damaging Het
Iars2 C A 1: 185,055,931 (GRCm39) C211F probably damaging Het
Kif5b A G 18: 6,211,058 (GRCm39) L802P probably damaging Het
Kif5c A G 2: 49,625,602 (GRCm39) E624G probably damaging Het
Kmt2d G T 15: 98,740,741 (GRCm39) probably benign Het
Krt82 C A 15: 101,456,823 (GRCm39) G186C possibly damaging Het
Lca5 G A 9: 83,305,276 (GRCm39) R177C probably damaging Het
Mab21l4 A T 1: 93,087,700 (GRCm39) V51E probably damaging Het
Mier1 T C 4: 103,019,907 (GRCm39) S318P probably benign Het
Obscn A T 11: 58,894,195 (GRCm39) I1207N probably damaging Het
Oog4 C T 4: 143,164,424 (GRCm39) G369D probably benign Het
Or4c126 A G 2: 89,824,526 (GRCm39) D263G probably damaging Het
Or4k52 A G 2: 111,611,526 (GRCm39) Y287C probably damaging Het
Or52d13 A G 7: 103,109,822 (GRCm39) F198L probably benign Het
Or5d35 A C 2: 87,855,818 (GRCm39) I251L probably benign Het
Plec T C 15: 76,060,824 (GRCm39) T3060A probably damaging Het
Plekhh2 C T 17: 84,884,593 (GRCm39) T769I probably damaging Het
Prkaa1 A T 15: 5,190,149 (GRCm39) S65C probably damaging Het
Psma3 T C 12: 71,031,416 (GRCm39) probably benign Het
Ptpn18 T A 1: 34,502,591 (GRCm39) probably benign Het
Ptprv T C 1: 135,039,998 (GRCm39) noncoding transcript Het
Rac1 C A 5: 143,493,886 (GRCm39) V104L probably benign Het
Serpinb7 A T 1: 107,362,479 (GRCm39) N61I possibly damaging Het
Sirt7 A C 11: 120,511,347 (GRCm39) probably benign Het
Srprb A T 9: 103,079,119 (GRCm39) L756Q probably damaging Het
Tchhl1 T C 3: 93,378,102 (GRCm39) S269P probably damaging Het
Tdo2 C T 3: 81,882,630 (GRCm39) probably null Het
Teddm1a T C 1: 153,767,646 (GRCm39) Y37H probably benign Het
Tenm3 T C 8: 48,689,890 (GRCm39) Y1899C probably damaging Het
Tep1 T C 14: 51,076,088 (GRCm39) T1681A probably benign Het
Timm44 G T 8: 4,325,919 (GRCm39) probably null Het
Trp73 A G 4: 154,147,059 (GRCm39) V322A possibly damaging Het
Tsr1 A C 11: 74,796,781 (GRCm39) E611A probably damaging Het
Unc80 A G 1: 66,685,746 (GRCm39) N2290S possibly damaging Het
Ush2a T C 1: 188,679,276 (GRCm39) V4828A possibly damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wnt9b C A 11: 103,622,875 (GRCm39) S176I possibly damaging Het
Zfp329 A G 7: 12,540,453 (GRCm39) probably benign Het
Zfp352 T A 4: 90,112,697 (GRCm39) V279D probably damaging Het
Zfp932 C T 5: 110,157,501 (GRCm39) Q400* probably null Het
Zxdc T A 6: 90,359,075 (GRCm39) L569Q probably damaging Het
Other mutations in Srl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTATAAGCCTCACGGTTGGG -3'
(R):5'- ATGGAGCTCTCTTTTGGAGC -3'

Sequencing Primer
(F):5'- GAAGGTCAAACTTGCTGACATTGGTC -3'
(R):5'- AGCTTGGCCCCTCTCATCAATG -3'
Posted On 2016-07-06