Incidental Mutation 'IGL02353:Casp6'
ID289572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp6
Ensembl Gene ENSMUSG00000027997
Gene Namecaspase 6
SynonymsmCASP-6, Mch2
Accession Numbers

Ncbi RefSeq: NM_009811.3; MGI: 1312921

Is this an essential gene? Possibly non essential (E-score: 0.483) question?
Stock #IGL02353
Quality Score
Status
Chromosome3
Chromosomal Location129901425-129914103 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 129910526 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 87 (S87L)
Ref Sequence ENSEMBL: ENSMUSP00000029626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029624] [ENSMUST00000029626] [ENSMUST00000153506]
Predicted Effect probably benign
Transcript: ENSMUST00000029624
SMART Domains Protein: ENSMUSP00000029624
Gene: ENSMUSG00000027994

DomainStartEndE-ValueType
Pfam:MCU 109 314 4.4e-68 PFAM
low complexity region 323 335 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000029626
AA Change: S87L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029626
Gene: ENSMUSG00000027997
AA Change: S87L

DomainStartEndE-ValueType
CASc 19 272 6.84e-132 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152622
Predicted Effect probably benign
Transcript: ENSMUST00000153506
SMART Domains Protein: ENSMUSP00000118170
Gene: ENSMUSG00000027994

DomainStartEndE-ValueType
low complexity region 178 202 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cysteine proteases that plays important roles in regulating apoptosis and neurodegeneration. The encoded protein is involved in the transmission of pain and axonal degeneration. Genetic deletion of this gene in mice results in the delay of axon pruning and protects from axon degeneration. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure to induce increased lysis of fluorogenic substrate VEID-AMC in staurosporine treated of lenses. Mice homozygous for a different knock-out allele exhibit resistance to excitotoxicity and axonal degeneration. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(5) Gene trapped(1)

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik A G 2: 148,783,467 probably benign Het
Aldh18a1 A T 19: 40,577,920 V102D probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Ccdc121 T C 1: 181,510,625 E254G possibly damaging Het
Ccnl1 A C 3: 65,948,720 C255G probably damaging Het
Celf4 T C 18: 25,486,898 I485M probably damaging Het
Cntln A G 4: 85,049,850 R769G probably damaging Het
Cyp2d12 T C 15: 82,558,970 V360A probably benign Het
Dgki T C 6: 36,847,389 E1068G probably damaging Het
Fbxl4 A G 4: 22,433,684 N607S probably benign Het
Fgd4 T C 16: 16,462,045 I383V probably damaging Het
Fgd6 C T 10: 94,138,396 T1333I possibly damaging Het
Got1 A G 19: 43,524,443 S5P probably damaging Het
Herc2 T A 7: 56,114,812 N995K probably damaging Het
Kcnma1 A G 14: 23,591,613 F159S probably damaging Het
Krt83 T C 15: 101,485,458 S456G probably benign Het
Lhb T C 7: 45,421,294 V32A possibly damaging Het
Mau2 A T 8: 70,019,638 V602E probably damaging Het
Mpst C T 15: 78,410,085 L6F probably damaging Het
Nlrp2 G A 7: 5,337,599 T72I probably damaging Het
Olfr44 A G 9: 39,485,148 I32T probably benign Het
Phldb2 T C 16: 45,748,779 Y1239C probably damaging Het
Slc22a8 T C 19: 8,608,255 F328S possibly damaging Het
Spns1 C T 7: 126,375,140 R94Q probably damaging Het
Sult2a3 G A 7: 14,121,650 R94* probably null Het
Syt16 A G 12: 74,129,471 N38S probably damaging Het
Tbc1d1 G A 5: 64,256,836 R180Q probably damaging Het
Ush2a T C 1: 188,728,438 I2632T probably benign Het
Vcam1 T A 3: 116,115,894 I595F possibly damaging Het
Other mutations in Casp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02360:Casp6 APN 3 129910526 missense probably damaging 1.00
P0005:Casp6 UTSW 3 129912143 missense probably benign 0.41
R0233:Casp6 UTSW 3 129905975 missense probably damaging 1.00
R0233:Casp6 UTSW 3 129905975 missense probably damaging 1.00
R0277:Casp6 UTSW 3 129910523 missense probably benign 0.22
R4167:Casp6 UTSW 3 129913344 missense probably damaging 1.00
R5297:Casp6 UTSW 3 129910555 missense possibly damaging 0.83
R6662:Casp6 UTSW 3 129912226 missense probably benign 0.22
Posted On2015-04-16