Incidental Mutation 'IGL02941:Cast'
ID364502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cast
Ensembl Gene ENSMUSG00000021585
Gene Namecalpastatin
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02941
Quality Score
Status
Chromosome13
Chromosomal Location74692368-74808810 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74700687 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 727 (D727E)
Ref Sequence ENSEMBL: ENSMUSP00000152174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065629] [ENSMUST00000220738] [ENSMUST00000222588] [ENSMUST00000223033] [ENSMUST00000223126] [ENSMUST00000223206] [ENSMUST00000223309]
Predicted Effect probably damaging
Transcript: ENSMUST00000065629
AA Change: D693E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: D693E

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 possibly damaging
Transcript: ENSMUST00000220738
AA Change: D384E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221873
Predicted Effect probably damaging
Transcript: ENSMUST00000222588
AA Change: D625E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223033
AA Change: D643E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223126
AA Change: D613E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223206
AA Change: D727E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223309
AA Change: D370E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik G A 7: 50,599,536 R106Q probably damaging Het
Amhr2 T C 15: 102,447,289 V223A probably damaging Het
Aqr T A 2: 114,113,354 H1101L probably damaging Het
Arnt T A 3: 95,460,370 probably benign Het
Cacnb2 G A 2: 14,958,829 V85I probably benign Het
Ccdc134 C T 15: 82,140,950 R217W probably damaging Het
Col5a3 A G 9: 20,804,666 S360P unknown Het
Cyp4f16 T C 17: 32,537,087 I30T possibly damaging Het
Dopey2 T C 16: 93,755,473 F267L probably benign Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Gm4953 C T 1: 159,168,393 noncoding transcript Het
Gm9242 T C 16: 97,491,079 probably benign Het
Gsr G A 8: 33,689,425 V354I probably damaging Het
Hecw1 T A 13: 14,377,726 D96V probably damaging Het
Hist2h2be A G 3: 96,221,416 Y84C possibly damaging Het
Il18r1 A G 1: 40,498,551 Y492C probably damaging Het
Itgb5 T G 16: 33,944,095 probably benign Het
Lars2 T G 9: 123,459,585 L832R probably damaging Het
Ms4a6c A G 19: 11,471,102 probably benign Het
Nrxn1 T C 17: 90,208,383 S1227G probably damaging Het
Olfr15 T C 16: 3,839,816 V281A possibly damaging Het
Olfr339 T C 2: 36,422,120 C241R probably damaging Het
Olfr584 A G 7: 103,086,321 T263A probably benign Het
Pcdh17 A G 14: 84,448,307 Y738C probably damaging Het
Pcsk5 C A 19: 17,447,501 C1646F probably damaging Het
Pirb A G 7: 3,717,378 V332A probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polrmt A T 10: 79,737,258 probably benign Het
Saxo1 G T 4: 86,445,584 R221S probably damaging Het
Specc1l A G 10: 75,241,188 I93V probably benign Het
St8sia2 T A 7: 73,976,649 probably benign Het
Tep1 A T 14: 50,866,037 N265K probably damaging Het
Thbd A T 2: 148,407,034 Y305N probably damaging Het
Tmem120a T C 5: 135,735,751 T325A probably damaging Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Vill G A 9: 119,066,887 probably benign Het
Wdr35 A G 12: 9,027,507 D1060G probably damaging Het
Xrn2 T A 2: 147,026,524 F166I probably damaging Het
Zc3h7a T G 16: 11,158,594 probably null Het
Zdhhc13 G A 7: 48,817,138 probably benign Het
Zfp808 T A 13: 62,173,130 N724K possibly damaging Het
Other mutations in Cast
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Cast APN 13 74736974 missense probably damaging 1.00
IGL01363:Cast APN 13 74704192 missense possibly damaging 0.95
IGL01404:Cast APN 13 74738287 nonsense probably null
IGL01893:Cast APN 13 74727289 nonsense probably null
IGL02139:Cast APN 13 74728365 missense possibly damaging 0.80
IGL02444:Cast APN 13 74739853 missense probably damaging 1.00
IGL02927:Cast APN 13 74736994 missense probably damaging 1.00
IGL02799:Cast UTSW 13 74736752 missense probably damaging 1.00
R0583:Cast UTSW 13 74713678 missense probably damaging 0.99
R2031:Cast UTSW 13 74798652 splice site probably null
R2256:Cast UTSW 13 74739905 missense probably damaging 0.99
R2509:Cast UTSW 13 74737616 missense probably benign 0.19
R3923:Cast UTSW 13 74728413 missense probably damaging 1.00
R4116:Cast UTSW 13 74724837 missense probably damaging 1.00
R4649:Cast UTSW 13 74746014 missense probably benign 0.25
R4651:Cast UTSW 13 74746014 missense probably benign 0.25
R4652:Cast UTSW 13 74746014 missense probably benign 0.25
R4653:Cast UTSW 13 74746014 missense probably benign 0.25
R4714:Cast UTSW 13 74798715 missense probably damaging 1.00
R4751:Cast UTSW 13 74746047 missense probably damaging 1.00
R4758:Cast UTSW 13 74739880 missense possibly damaging 0.90
R4974:Cast UTSW 13 74807823 missense probably benign
R5040:Cast UTSW 13 74724813 missense probably damaging 1.00
R5397:Cast UTSW 13 74720937 missense possibly damaging 0.83
R5556:Cast UTSW 13 74695889 critical splice donor site probably null
R5863:Cast UTSW 13 74736756 missense probably damaging 1.00
R6030:Cast UTSW 13 74695937 missense possibly damaging 0.83
R6030:Cast UTSW 13 74695937 missense possibly damaging 0.83
R6349:Cast UTSW 13 74721195 missense probably damaging 1.00
R6817:Cast UTSW 13 74699158 missense possibly damaging 0.78
R6829:Cast UTSW 13 74728344 missense possibly damaging 0.50
R6848:Cast UTSW 13 74695933 missense possibly damaging 0.66
R7275:Cast UTSW 13 74727334 missense probably benign 0.00
R7401:Cast UTSW 13 74808458 missense unknown
R7408:Cast UTSW 13 74739841 missense probably damaging 0.99
R7602:Cast UTSW 13 74736965 missense probably benign 0.26
R8032:Cast UTSW 13 74735241 nonsense probably null
X0011:Cast UTSW 13 74725456 missense probably damaging 1.00
X0066:Cast UTSW 13 74736979 missense probably damaging 1.00
Z1177:Cast UTSW 13 74725463 missense probably damaging 0.99
Posted On2015-12-18