Incidental Mutation 'IGL01880:Capn8'
ID179018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn8
Ensembl Gene ENSMUSG00000038599
Gene Namecalpain 8
SynonymsnCL-2, nCL-2'
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01880
Quality Score
Status
Chromosome1
Chromosomal Location182565007-182632352 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 182597576 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 143 (F143S)
Ref Sequence ENSEMBL: ENSMUSP00000141275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048941] [ENSMUST00000168514] [ENSMUST00000192671]
Predicted Effect probably damaging
Transcript: ENSMUST00000048941
AA Change: F143S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: F143S

DomainStartEndE-ValueType
CysPc 27 352 5.02e-183 SMART
calpain_III 355 512 5.34e-91 SMART
EFh 579 607 3.12e0 SMART
EFh 609 637 4.32e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168514
AA Change: F143S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129549
Gene: ENSMUSG00000038599
AA Change: F143S

DomainStartEndE-ValueType
CysPc 27 352 5.02e-183 SMART
Pfam:Calpain_III 355 381 6.3e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192671
AA Change: F143S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: F143S

DomainStartEndE-ValueType
CysPc 27 352 2.2e-185 SMART
calpain_III 355 512 1.4e-93 SMART
EFh 579 607 1.5e-2 SMART
EFh 609 637 2.1e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193260
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele or allele that produces a proteolytically inactive protein exhibit increased sensitivity to ethanol-induced gastric mucosa injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik C A 17: 33,066,716 V371L probably damaging Het
Abca5 T C 11: 110,293,263 T1003A probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Dnaaf2 A T 12: 69,190,037 L766I probably benign Het
Gle1 T A 2: 29,943,750 S386R possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Klrb1 A T 6: 128,712,319 V63E possibly damaging Het
Mettl1 A G 10: 127,044,623 H138R probably damaging Het
Olfr229 T A 9: 39,909,941 I46N possibly damaging Het
Olfr371 A G 8: 85,231,083 N196S probably benign Het
Ppp1r12b A G 1: 134,886,421 probably null Het
Shtn1 A C 19: 59,075,449 probably benign Het
Slc22a15 T C 3: 101,860,848 R503G probably benign Het
Smarcd2 G A 11: 106,266,677 R148W probably damaging Het
Ssc5d T A 7: 4,933,219 V488E probably damaging Het
Vmn2r57 A G 7: 41,400,195 I710T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps41 T G 13: 18,810,471 S163A probably benign Het
Zc3h6 C T 2: 129,017,378 L1110F probably damaging Het
Other mutations in Capn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02814:Capn8 APN 1 182598771 missense probably damaging 1.00
R0063:Capn8 UTSW 1 182602112 missense probably damaging 1.00
R0063:Capn8 UTSW 1 182602112 missense probably damaging 1.00
R0330:Capn8 UTSW 1 182630138 missense probably benign 0.30
R1653:Capn8 UTSW 1 182623951 missense probably benign 0.04
R1679:Capn8 UTSW 1 182613467 missense probably damaging 1.00
R1783:Capn8 UTSW 1 182598822 missense probably damaging 1.00
R1819:Capn8 UTSW 1 182598826 missense probably damaging 1.00
R1831:Capn8 UTSW 1 182611101 critical splice donor site probably null
R2045:Capn8 UTSW 1 182613386 missense probably benign 0.00
R2298:Capn8 UTSW 1 182613420 missense probably benign 0.29
R4331:Capn8 UTSW 1 182604454 missense probably damaging 1.00
R4485:Capn8 UTSW 1 182598741 missense possibly damaging 0.76
R4835:Capn8 UTSW 1 182604551 missense probably damaging 0.98
R5055:Capn8 UTSW 1 182571961 missense probably damaging 1.00
R5224:Capn8 UTSW 1 182596989 missense probably damaging 1.00
R5327:Capn8 UTSW 1 182628604 missense probably benign 0.03
R5497:Capn8 UTSW 1 182620180 missense probably benign
R6307:Capn8 UTSW 1 182607699 missense probably damaging 0.98
R6895:Capn8 UTSW 1 182628669 missense possibly damaging 0.51
R7216:Capn8 UTSW 1 182598798 missense possibly damaging 0.89
R7438:Capn8 UTSW 1 182598675 missense probably damaging 1.00
Posted On2014-05-07