Incidental Mutation 'IGL01893:Cast'
ID 179312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cast
Ensembl Gene ENSMUSG00000021585
Gene Name calpastatin
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01893
Quality Score
Status
Chromosome 13
Chromosomal Location 74840487-74956929 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 74875408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 480 (K480*)
Ref Sequence ENSEMBL: ENSMUSP00000155983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065629] [ENSMUST00000220738] [ENSMUST00000222588] [ENSMUST00000223033] [ENSMUST00000223309] [ENSMUST00000223206] [ENSMUST00000223126] [ENSMUST00000231578]
AlphaFold P51125
Predicted Effect probably null
Transcript: ENSMUST00000065629
AA Change: K465*
SMART Domains Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: K465*

DomainStartEndE-ValueType
Pfam:Calpain_inhib 15 272 8.1e-9 PFAM
Pfam:Calpain_inhib 279 404 2.7e-36 PFAM
Pfam:Calpain_inhib 415 544 3.6e-38 PFAM
Pfam:Calpain_inhib 556 684 4.5e-36 PFAM
low complexity region 708 744 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000220738
AA Change: K157*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222373
Predicted Effect probably null
Transcript: ENSMUST00000222588
AA Change: K397*
Predicted Effect probably null
Transcript: ENSMUST00000223033
AA Change: K416*
Predicted Effect probably null
Transcript: ENSMUST00000223309
AA Change: K142*
Predicted Effect probably null
Transcript: ENSMUST00000223206
AA Change: K499*
Predicted Effect probably null
Transcript: ENSMUST00000223126
AA Change: K397*
Predicted Effect probably null
Transcript: ENSMUST00000231578
AA Change: K480*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an inhibitor of the calcium-dependent cysteine protease, calpain. This protein plays roles in multiple processes, including apoptosis, cell cycle regulation, and membrane fusion. Multiple protein isoforms exist which contain unique N-terminal domains, and multiple inhibitory domains that share homology with each other. Some isoforms may be tissue-specific. Two different pseudogenes of this gene are found on chromosome 19. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knockout allele exhibit augmented DNA fragmentation in CA1 pyramidal neurons following excitotoxic kainate treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,582,198 (GRCm39) I275F probably damaging Het
Avil G A 10: 126,856,415 (GRCm39) E815K possibly damaging Het
Car9 T A 4: 43,510,252 (GRCm39) I278N probably damaging Het
Cenpj A G 14: 56,790,931 (GRCm39) F373L probably damaging Het
Cspp1 T C 1: 10,204,366 (GRCm39) probably null Het
Diaph3 G A 14: 87,156,288 (GRCm39) T675I possibly damaging Het
Dip2b A T 15: 100,069,101 (GRCm39) probably benign Het
Dnah1 T C 14: 30,988,427 (GRCm39) D3425G probably damaging Het
Dolk A G 2: 30,175,926 (GRCm39) Y40H probably benign Het
Drosha T C 15: 12,866,736 (GRCm39) probably benign Het
Dusp15 A G 2: 152,790,956 (GRCm39) probably null Het
Edrf1 T C 7: 133,258,831 (GRCm39) F770L probably benign Het
Gabra1 T C 11: 42,024,586 (GRCm39) K363R possibly damaging Het
Glipr1l1 A C 10: 111,912,074 (GRCm39) T203P probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-Q10 T C 17: 35,784,168 (GRCm39) S270P probably damaging Het
Hipk2 A T 6: 38,795,330 (GRCm39) M313K probably benign Het
Htt T A 5: 35,034,174 (GRCm39) I1920N probably damaging Het
Lsr A T 7: 30,661,657 (GRCm39) V210E possibly damaging Het
Mbtd1 A T 11: 93,812,238 (GRCm39) I181L probably null Het
Mettl16 A T 11: 74,696,097 (GRCm39) T273S possibly damaging Het
Mlst8 T C 17: 24,696,961 (GRCm39) N74D probably benign Het
Nek9 A G 12: 85,383,174 (GRCm39) I102T probably damaging Het
Nme7 C T 1: 164,172,850 (GRCm39) A187V probably damaging Het
Nphp1 A T 2: 127,611,564 (GRCm39) W261R probably damaging Het
Or12e13 G T 2: 87,664,207 (GRCm39) G275* probably null Het
Or2h2 A G 17: 37,396,760 (GRCm39) L99P probably damaging Het
Or4f14 A T 2: 111,742,589 (GRCm39) S229T possibly damaging Het
Orc6 A G 8: 86,034,272 (GRCm39) D165G probably damaging Het
Ovca2 A G 11: 75,069,133 (GRCm39) S89P probably benign Het
Pcdhb12 T G 18: 37,570,263 (GRCm39) S470A probably benign Het
Phactr2 T C 10: 13,122,932 (GRCm39) T397A probably benign Het
Pms2 T C 5: 143,860,337 (GRCm39) L50P probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Serpinb11 C A 1: 107,305,387 (GRCm39) S254R probably benign Het
Serpinb11 C A 1: 107,305,388 (GRCm39) Q255K probably benign Het
Skap2 T C 6: 51,851,556 (GRCm39) T79A probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Tbx19 A T 1: 164,967,767 (GRCm39) S327T possibly damaging Het
Themis3 A G 17: 66,866,622 (GRCm39) L206P possibly damaging Het
Tmem132c T A 5: 127,540,093 (GRCm39) L373Q possibly damaging Het
Unc13c G T 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r106 A T 17: 20,497,730 (GRCm39) M503K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r33 A G 7: 7,566,776 (GRCm39) I112T probably benign Het
Vps13a A C 19: 16,641,139 (GRCm39) W2328G probably damaging Het
Other mutations in Cast
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Cast APN 13 74,885,093 (GRCm39) missense probably damaging 1.00
IGL01363:Cast APN 13 74,852,311 (GRCm39) missense possibly damaging 0.95
IGL01404:Cast APN 13 74,886,406 (GRCm39) nonsense probably null
IGL02139:Cast APN 13 74,876,484 (GRCm39) missense possibly damaging 0.80
IGL02444:Cast APN 13 74,887,972 (GRCm39) missense probably damaging 1.00
IGL02927:Cast APN 13 74,885,113 (GRCm39) missense probably damaging 1.00
IGL02941:Cast APN 13 74,848,806 (GRCm39) missense probably damaging 1.00
IGL02799:Cast UTSW 13 74,884,871 (GRCm39) missense probably damaging 1.00
R0583:Cast UTSW 13 74,861,797 (GRCm39) missense probably damaging 0.99
R2031:Cast UTSW 13 74,946,771 (GRCm39) splice site probably null
R2256:Cast UTSW 13 74,888,024 (GRCm39) missense probably damaging 0.99
R2509:Cast UTSW 13 74,885,735 (GRCm39) missense probably benign 0.19
R3923:Cast UTSW 13 74,876,532 (GRCm39) missense probably damaging 1.00
R4116:Cast UTSW 13 74,872,956 (GRCm39) missense probably damaging 1.00
R4649:Cast UTSW 13 74,894,133 (GRCm39) missense probably benign 0.25
R4651:Cast UTSW 13 74,894,133 (GRCm39) missense probably benign 0.25
R4652:Cast UTSW 13 74,894,133 (GRCm39) missense probably benign 0.25
R4653:Cast UTSW 13 74,894,133 (GRCm39) missense probably benign 0.25
R4714:Cast UTSW 13 74,946,834 (GRCm39) missense probably damaging 1.00
R4751:Cast UTSW 13 74,894,166 (GRCm39) missense probably damaging 1.00
R4758:Cast UTSW 13 74,887,999 (GRCm39) missense possibly damaging 0.90
R4974:Cast UTSW 13 74,955,942 (GRCm39) missense probably benign
R5040:Cast UTSW 13 74,872,932 (GRCm39) missense probably damaging 1.00
R5397:Cast UTSW 13 74,869,056 (GRCm39) missense possibly damaging 0.83
R5556:Cast UTSW 13 74,844,008 (GRCm39) critical splice donor site probably null
R5863:Cast UTSW 13 74,884,875 (GRCm39) missense probably damaging 1.00
R6030:Cast UTSW 13 74,844,056 (GRCm39) missense possibly damaging 0.83
R6030:Cast UTSW 13 74,844,056 (GRCm39) missense possibly damaging 0.83
R6349:Cast UTSW 13 74,869,314 (GRCm39) missense probably damaging 1.00
R6817:Cast UTSW 13 74,847,277 (GRCm39) missense possibly damaging 0.78
R6829:Cast UTSW 13 74,876,463 (GRCm39) missense possibly damaging 0.50
R6848:Cast UTSW 13 74,844,052 (GRCm39) missense possibly damaging 0.66
R7275:Cast UTSW 13 74,875,453 (GRCm39) missense probably benign 0.00
R7401:Cast UTSW 13 74,956,577 (GRCm39) missense unknown
R7408:Cast UTSW 13 74,887,960 (GRCm39) missense probably damaging 0.99
R7602:Cast UTSW 13 74,885,084 (GRCm39) missense probably benign 0.26
R8032:Cast UTSW 13 74,883,360 (GRCm39) nonsense probably null
R8499:Cast UTSW 13 74,946,835 (GRCm39) missense probably benign 0.07
R8544:Cast UTSW 13 74,882,177 (GRCm39) missense possibly damaging 0.92
R8557:Cast UTSW 13 74,852,301 (GRCm39) missense probably damaging 1.00
R8709:Cast UTSW 13 74,892,780 (GRCm39) missense probably damaging 0.96
X0011:Cast UTSW 13 74,873,575 (GRCm39) missense probably damaging 1.00
X0066:Cast UTSW 13 74,885,098 (GRCm39) missense probably damaging 1.00
Z1177:Cast UTSW 13 74,873,582 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07