Incidental Mutation 'IGL00834:Cast'
ID 9406
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 # IGL00834
Quality Score
Status
Chromosome 13
Chromosomal Location 74840487-74956929 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74885093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 219 (T219S)
Ref Sequence ENSEMBL: ENSMUSP00000152550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065629] [ENSMUST00000220738] [ENSMUST00000222588] [ENSMUST00000223033] [ENSMUST00000223126] [ENSMUST00000223206] [ENSMUST00000231578] [ENSMUST00000223309]
AlphaFold P51125
Predicted Effect probably damaging
Transcript: ENSMUST00000065629
AA Change: T287S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: T287S

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 benign
Transcript: ENSMUST00000220738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222373
Predicted Effect probably damaging
Transcript: ENSMUST00000222588
AA Change: T219S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223033
AA Change: T238S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223126
AA Change: T219S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223206
AA Change: T321S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000231578
AA Change: T302S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000223309
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A G 13: 4,562,664 (GRCm39) probably null Het
Alg5 T C 3: 54,652,140 (GRCm39) probably benign Het
App A T 16: 84,762,599 (GRCm39) F675I probably damaging Het
Atad1 C A 19: 32,675,968 (GRCm39) C152F probably benign Het
Atp2a3 A C 11: 72,873,613 (GRCm39) I829L probably damaging Het
B3galt1 C T 2: 67,949,050 (GRCm39) S255L probably damaging Het
Bptf A G 11: 106,964,754 (GRCm39) V1417A possibly damaging Het
Cep95 A T 11: 106,709,043 (GRCm39) I705F probably damaging Het
Cnot3 C T 7: 3,653,854 (GRCm39) A2V probably damaging Het
Col1a1 A G 11: 94,840,204 (GRCm39) D1084G unknown Het
Col5a3 G A 9: 20,697,685 (GRCm39) Q873* probably null Het
Cubn C T 2: 13,386,738 (GRCm39) G1509D probably damaging Het
Defb10 T A 8: 22,351,952 (GRCm39) C66S possibly damaging Het
Dennd4b T C 3: 90,186,993 (GRCm39) probably null Het
Dido1 G A 2: 180,331,319 (GRCm39) T43M possibly damaging Het
Hmcn1 C T 1: 150,506,091 (GRCm39) V3812I probably benign Het
Islr2 T C 9: 58,107,069 (GRCm39) T64A probably benign Het
Kif2b A T 11: 91,467,206 (GRCm39) I359N probably damaging Het
Kit A C 5: 75,806,619 (GRCm39) N704T probably damaging Het
Ksr1 A G 11: 78,918,343 (GRCm39) F604L probably damaging Het
Lrp5 A T 19: 3,699,404 (GRCm39) F294I probably benign Het
Lrrn1 A G 6: 107,545,269 (GRCm39) T356A probably benign Het
Mrps17 G A 5: 129,793,829 (GRCm39) V8I probably benign Het
Nop56 T A 2: 130,117,915 (GRCm39) H130Q possibly damaging Het
Plg T A 17: 12,630,380 (GRCm39) L639Q probably damaging Het
Ppcdc A G 9: 57,322,423 (GRCm39) F159L probably benign Het
Ppp1ca A G 19: 4,244,519 (GRCm39) T193A probably benign Het
Prpf39 A G 12: 65,090,037 (GRCm39) D117G probably damaging Het
Ranbp2 C A 10: 58,289,145 (GRCm39) T51K possibly damaging Het
Sytl2 A G 7: 90,031,844 (GRCm39) probably benign Het
Tenm2 T A 11: 35,915,085 (GRCm39) I2150F probably damaging Het
Wdr11 T G 7: 129,194,817 (GRCm39) probably null Het
Other mutations in Cast
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Cast APN 13 74,852,311 (GRCm39) missense possibly damaging 0.95
IGL01404:Cast APN 13 74,886,406 (GRCm39) nonsense probably null
IGL01893:Cast APN 13 74,875,408 (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 2012-12-06