Incidental Mutation 'IGL01141:Sln'
ID52002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sln
Ensembl Gene ENSMUSG00000042045
Gene Namesarcolipin
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.173) question?
Stock #IGL01141
Quality Score
Status
Chromosome9
Chromosomal Location53850164-53854560 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53853500 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 10 (I10V)
Ref Sequence ENSEMBL: ENSMUSP00000036950 (fasta)
Predicted Effect probably benign
Transcript: ENSMUST00000048485
AA Change: I10V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased cardiac contractility and impaired muscle-based thermogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,937,730 D1447E probably damaging Het
Atp2a3 T C 11: 72,982,665 I788T probably damaging Het
Axin1 G A 17: 26,190,041 E672K probably damaging Het
Ccno A G 13: 112,989,027 D175G probably damaging Het
Cep83 C A 10: 94,788,757 T632K probably benign Het
Ckmt1 A T 2: 121,362,993 I345F probably benign Het
Cntnap1 G A 11: 101,178,807 probably benign Het
Edem2 A G 2: 155,709,028 Y340H probably benign Het
Erich3 A G 3: 154,714,016 K249R probably benign Het
Fndc9 T C 11: 46,237,699 I15T probably benign Het
Gm4758 A G 16: 36,308,064 E7G probably benign Het
Grip2 G T 6: 91,782,897 Q300K probably benign Het
Herc2 T C 7: 56,212,841 V4050A possibly damaging Het
Jup A T 11: 100,386,249 D44E probably benign Het
Lingo3 G T 10: 80,835,313 P261Q probably damaging Het
Lrrfip2 C T 9: 111,219,715 R311W probably damaging Het
Mansc1 C A 6: 134,621,785 L56F probably benign Het
Map1b A G 13: 99,434,761 I484T probably damaging Het
Mpeg1 T A 19: 12,462,785 F536I probably damaging Het
Mrgprb1 T G 7: 48,448,027 T46P probably benign Het
Mug1 A G 6: 121,870,499 N612S probably benign Het
Olfr477 T C 7: 107,990,551 F62S probably damaging Het
Olfr805 T A 10: 129,722,945 I200L probably benign Het
Pax8 A G 2: 24,441,150 S178P probably damaging Het
Peak1 A G 9: 56,258,527 F706L probably benign Het
Prkdc A G 16: 15,726,704 T1853A probably damaging Het
Reln A C 5: 21,969,033 F2024C probably damaging Het
Reln G T 5: 21,919,069 P2813Q probably damaging Het
Riox1 A G 12: 83,951,794 Q368R probably damaging Het
Rspry1 T C 8: 94,649,855 V335A probably benign Het
Scn3a T C 2: 65,495,113 N1020S possibly damaging Het
Scyl2 A G 10: 89,640,635 V876A probably benign Het
Sdhaf3 T A 6: 6,956,141 F39I probably damaging Het
Sfxn4 T C 19: 60,851,014 E202G possibly damaging Het
Slc1a4 A T 11: 20,308,644 probably benign Het
Ssh2 A G 11: 77,449,726 E568G probably damaging Het
Supt7l G A 5: 31,518,435 P270S probably benign Het
Tanc2 A G 11: 105,886,474 probably benign Het
Tatdn1 A T 15: 58,909,567 probably benign Het
Tfip11 C T 5: 112,329,503 P117L possibly damaging Het
Vpreb1 T C 16: 16,869,087 M9V probably benign Het
Other mutations in Sln
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1958:Sln UTSW 9 53853501 missense probably benign 0.12
Posted On2013-06-21