Incidental Mutation 'IGL01296:Srl'
ID 73113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srl
Ensembl Gene ENSMUSG00000022519
Gene Name sarcalumenin
Synonyms sarcalumenin, 9830004M20Rik, sar
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL01296
Quality Score
Status
Chromosome 16
Chromosomal Location 4480216-4541816 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4497682 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 32 (D32G)
Ref Sequence ENSEMBL: ENSMUSP00000023161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023161] [ENSMUST00000090500]
AlphaFold Q7TQ48
Predicted Effect probably damaging
Transcript: ENSMUST00000023161
AA Change: D32G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: D32G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230817
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,841,705 S301P probably damaging Het
Adam34 A G 8: 43,651,141 V489A possibly damaging Het
Adcy8 G A 15: 64,783,779 T617I probably damaging Het
Aggf1 T C 13: 95,353,971 D605G probably damaging Het
Atp10a T A 7: 58,813,625 F969I probably benign Het
Becn1 A T 11: 101,291,451 N97K probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Crtac1 A T 19: 42,284,213 C578S probably damaging Het
Dcp1b A G 6: 119,215,358 K412E probably damaging Het
Dlg2 T A 7: 91,940,059 I327N probably damaging Het
Ehf T A 2: 103,268,155 probably null Het
Elavl4 T C 4: 110,206,612 N264S probably benign Het
Enpp2 A T 15: 54,875,669 I406N probably damaging Het
F10 A T 8: 13,055,383 Y316F possibly damaging Het
Fam20a A G 11: 109,685,351 I194T possibly damaging Het
Fcgbp T C 7: 28,089,647 V546A probably benign Het
Fras1 A T 5: 96,673,698 Q1438L probably null Het
Gm43638 T C 5: 87,460,592 I463V probably benign Het
Gm597 T C 1: 28,777,056 I632V probably benign Het
H2-T10 T C 17: 36,120,710 D84G probably benign Het
Itpr1 T C 6: 108,399,361 F1262L probably damaging Het
Lama1 A G 17: 67,745,051 N335D probably benign Het
Lasp1 T C 11: 97,836,190 V246A probably damaging Het
Lrrk2 A T 15: 91,683,142 I135L probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Mctp2 T C 7: 72,228,526 K268R probably benign Het
Nbea A T 3: 56,031,536 H710Q probably benign Het
Notch3 G A 17: 32,166,757 R13C unknown Het
Ogfod1 A T 8: 94,055,671 probably benign Het
Olfr1465 A G 19: 13,314,126 L53P probably damaging Het
Olfr339 A G 2: 36,421,704 Y102C probably benign Het
Olfr924 T C 9: 38,848,252 I46T probably damaging Het
Pgm3 A G 9: 86,561,879 V324A probably damaging Het
Ppfia2 A T 10: 106,858,207 I681F probably damaging Het
Prss23 T C 7: 89,509,887 K325E possibly damaging Het
Psmd7 T A 8: 107,586,617 probably benign Het
Rfx2 T A 17: 56,808,317 M1L possibly damaging Het
Rpa1 T C 11: 75,312,315 Y418C probably damaging Het
Rps6kc1 C T 1: 190,773,678 R1029H probably damaging Het
Sept10 A G 10: 59,166,600 V391A probably benign Het
Skint6 A G 4: 113,236,440 F169L probably benign Het
Slc44a4 C T 17: 34,921,698 T289I probably benign Het
Stxbp3-ps T A 19: 9,557,892 noncoding transcript Het
Sult1b1 T C 5: 87,514,956 D295G probably benign Het
Tmprss7 A G 16: 45,684,574 V151A probably damaging Het
Trmo A G 4: 46,387,589 L84P probably damaging Het
Vmn2r98 T A 17: 19,065,185 I89N probably damaging Het
Zcwpw1 G A 5: 137,796,799 A86T probably benign Het
Zkscan16 A G 4: 58,956,690 H324R possibly damaging Het
Other mutations in Srl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00803:Srl APN 16 4483220 missense probably null 1.00
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
R9785:Srl UTSW 16 4496854 missense probably benign
X0023:Srl UTSW 16 4492368 missense probably damaging 0.99
Posted On 2013-10-07