Incidental Mutation 'R6875:Srl'
ID 536399
Institutional Source Beutler Lab
Gene Symbol Srl
Ensembl Gene ENSMUSG00000022519
Gene Name sarcalumenin
Synonyms sarcalumenin, 9830004M20Rik, sar
MMRRC Submission 044971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R6875 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 4480216-4541816 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4482831 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 792 (K792R)
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: K792R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: K792R

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
AA Change: K354R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519
AA Change: K354R

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (58/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T C 15: 12,812,068 (GRCm38) H270R probably damaging Het
Abcb1a T C 5: 8,701,628 (GRCm38) I336T probably benign Het
Adam19 T A 11: 46,112,875 (GRCm38) F177I probably benign Het
Ankrd53 T C 6: 83,768,173 (GRCm38) V455A probably damaging Het
Arrdc1 A G 2: 24,925,665 (GRCm38) S415P probably benign Het
Atp10a T C 7: 58,797,352 (GRCm38) L614P probably benign Het
C130060K24Rik A T 6: 65,456,336 (GRCm38) N380I probably benign Het
Catsper1 G T 19: 5,343,963 (GRCm38) V668F probably damaging Het
Cluh T A 11: 74,661,918 (GRCm38) D596E probably damaging Het
Cnot10 A G 9: 114,615,107 (GRCm38) S407P probably benign Het
Commd6 T C 14: 101,634,350 (GRCm38) T86A probably damaging Het
D5Ertd579e A T 5: 36,604,657 (GRCm38) probably null Het
Eif3l A G 15: 79,085,560 (GRCm38) D252G probably damaging Het
Epha2 A T 4: 141,328,468 (GRCm38) S962C probably damaging Het
Fcho1 C A 8: 71,714,425 (GRCm38) probably null Het
Fgf23 G T 6: 127,073,216 (GRCm38) G63C probably damaging Het
Flnc A T 6: 29,445,749 (GRCm38) Y834F probably damaging Het
Gcn1l1 T C 5: 115,588,110 (GRCm38) L608P probably damaging Het
Hdac5 T A 11: 102,202,276 (GRCm38) E545V probably damaging Het
Hecw2 A T 1: 53,937,132 (GRCm38) M166K probably benign Het
Ikbkb T C 8: 22,665,893 (GRCm38) D586G probably damaging Het
Il1f9 G C 2: 24,188,621 (GRCm38) probably null Het
Ipo13 A T 4: 117,904,911 (GRCm38) I422N possibly damaging Het
Iqgap3 GGAGAG GGAG 3: 88,112,771 (GRCm38) probably null Het
Kat6a G A 8: 22,932,361 (GRCm38) A896T probably benign Het
Kif28 A G 1: 179,735,994 (GRCm38) I139T probably damaging Het
Klhl25 A G 7: 75,866,342 (GRCm38) E332G probably damaging Het
Krt8 C T 15: 101,997,908 (GRCm38) A389T probably benign Het
Msrb3 T C 10: 120,784,106 (GRCm38) S175G probably benign Het
Muc5ac C T 7: 141,809,744 (GRCm38) probably benign Het
Myo10 T C 15: 25,805,659 (GRCm38) Y1709H probably benign Het
Nckap5 A G 1: 126,023,194 (GRCm38) S1519P probably benign Het
Npnt T A 3: 132,909,910 (GRCm38) D124V probably damaging Het
Nr1d1 A T 11: 98,770,836 (GRCm38) probably null Het
Ogdh A G 11: 6,340,477 (GRCm38) Y365C probably benign Het
Olfr1305 A T 2: 111,872,961 (GRCm38) I298N possibly damaging Het
Phf21b A T 15: 84,787,446 (GRCm38) C416S probably damaging Het
Prpsap1 A G 11: 116,471,438 (GRCm38) S373P probably damaging Het
Rab28 T C 5: 41,703,534 (GRCm38) T26A probably damaging Het
Rbbp8nl A G 2: 180,279,226 (GRCm38) I455T probably benign Het
Rnft2 G A 5: 118,228,818 (GRCm38) A285V possibly damaging Het
Rrp36 G T 17: 46,672,371 (GRCm38) Q106K probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,579,908 (GRCm38) probably benign Het
Runx2 G A 17: 44,814,192 (GRCm38) P80L probably damaging Het
Scn5a A G 9: 119,486,644 (GRCm38) L1666P probably damaging Het
Siglecf A C 7: 43,355,200 (GRCm38) T318P probably benign Het
Slc22a1 C T 17: 12,667,305 (GRCm38) W147* probably null Het
Smchd1 T C 17: 71,353,506 (GRCm38) I1868V probably damaging Het
Snx21 A G 2: 164,791,902 (GRCm38) S203G probably damaging Het
Srrt A G 5: 137,298,673 (GRCm38) F100S probably benign Het
Stard9 G T 2: 120,697,436 (GRCm38) M1391I probably benign Het
Syne2 A G 12: 76,035,630 (GRCm38) E119G probably damaging Het
Syt11 G T 3: 88,762,155 (GRCm38) S143R possibly damaging Het
Tiparp T A 3: 65,531,642 (GRCm38) H126Q probably benign Het
Tulp2 C A 7: 45,518,614 (GRCm38) T150K probably benign Het
Ugt2b37 T A 5: 87,242,429 (GRCm38) Y386F probably benign Het
Usp31 C T 7: 121,649,640 (GRCm38) W860* probably null Het
Zfp317 A G 9: 19,643,665 (GRCm38) R30G probably damaging Het
Zfp709 C A 8: 71,889,007 (GRCm38) N93K possibly damaging Het
Other mutations in Srl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00803:Srl APN 16 4,483,220 (GRCm38) missense probably null 1.00
IGL01296:Srl APN 16 4,497,682 (GRCm38) missense probably damaging 0.99
IGL02006:Srl APN 16 4,497,286 (GRCm38) missense probably benign 0.23
IGL02255:Srl APN 16 4,487,558 (GRCm38) missense probably damaging 1.00
IGL02583:Srl APN 16 4,492,380 (GRCm38) missense possibly damaging 0.69
R0550:Srl UTSW 16 4,487,565 (GRCm38) missense probably damaging 1.00
R0559:Srl UTSW 16 4,496,978 (GRCm38) missense probably benign 0.01
R1933:Srl UTSW 16 4,492,350 (GRCm38) missense probably damaging 0.99
R2093:Srl UTSW 16 4,523,032 (GRCm38) missense unknown
R2298:Srl UTSW 16 4,482,898 (GRCm38) missense probably damaging 1.00
R4093:Srl UTSW 16 4,497,452 (GRCm38) missense possibly damaging 0.93
R4798:Srl UTSW 16 4,492,358 (GRCm38) missense possibly damaging 0.51
R4986:Srl UTSW 16 4,496,782 (GRCm38) missense probably benign 0.00
R5088:Srl UTSW 16 4,482,769 (GRCm38) missense probably damaging 1.00
R5177:Srl UTSW 16 4,496,403 (GRCm38) critical splice donor site probably null
R5260:Srl UTSW 16 4,482,895 (GRCm38) nonsense probably null
R5988:Srl UTSW 16 4,523,028 (GRCm38) missense unknown
R6946:Srl UTSW 16 4,482,559 (GRCm38) missense probably benign 0.00
R7221:Srl UTSW 16 4,482,947 (GRCm38) missense probably damaging 0.99
R7262:Srl UTSW 16 4,497,551 (GRCm38) missense probably damaging 0.96
R8307:Srl UTSW 16 4,497,145 (GRCm38) missense probably benign 0.01
R8976:Srl UTSW 16 4,483,030 (GRCm38) missense probably damaging 1.00
R9193:Srl UTSW 16 4,493,859 (GRCm38) missense possibly damaging 0.77
R9424:Srl UTSW 16 4,483,167 (GRCm38) missense probably damaging 1.00
R9576:Srl UTSW 16 4,483,167 (GRCm38) missense probably damaging 1.00
R9785:Srl UTSW 16 4,496,854 (GRCm38) missense probably benign
X0023:Srl UTSW 16 4,492,368 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTAGGAGCACTGCTGAGAG -3'
(R):5'- GGTTTACGTCAGCTCCTTCTGG -3'

Sequencing Primer
(F):5'- CTGCTGAGAGAGGAGTTTGAAATTG -3'
(R):5'- TCCTTCTGGCCACAGGACTATAAG -3'
Posted On 2018-10-18