Incidental Mutation 'IGL00863:Cript'
ID9892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cript
Ensembl Gene ENSMUSG00000024146
Gene Namecysteine-rich PDZ-binding protein
SynonymsCRIPT, 1200020A08Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00863
Quality Score
Status
Chromosome17
Chromosomal Location87025550-87035810 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87027723 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 14 (I14N)
Ref Sequence ENSEMBL: ENSMUSP00000024959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024957] [ENSMUST00000024959] [ENSMUST00000160269]
Predicted Effect probably benign
Transcript: ENSMUST00000024957
SMART Domains Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145

DomainStartEndE-ValueType
Pfam:PIG-F 21 204 1.6e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000024959
AA Change: I14N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024959
Gene: ENSMUSG00000024146
AA Change: I14N

DomainStartEndE-ValueType
Pfam:Cript 11 101 2e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160269
AA Change: I23N

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124994
Gene: ENSMUSG00000024146
AA Change: I23N

DomainStartEndE-ValueType
Pfam:Cript 20 109 2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160824
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a transposon induced allele exhibit embryonic lethality at E8. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik A T 18: 57,594,086 E136V probably damaging Het
Bsn A G 9: 108,115,322 I1077T probably damaging Het
Car8 A G 4: 8,183,251 probably null Het
Ccny A T 18: 9,345,444 D143E probably benign Het
Cdh19 A G 1: 110,949,144 V155A probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fam49a A T 12: 12,359,234 I72F probably benign Het
Fbln5 A G 12: 101,809,916 V60A probably damaging Het
Fbn1 T A 2: 125,403,219 E249D possibly damaging Het
G6pc G T 11: 101,370,723 R83L probably damaging Het
Grik2 A G 10: 49,355,928 V502A possibly damaging Het
Heatr1 T C 13: 12,435,128 V2001A probably benign Het
Il4i1 T A 7: 44,838,046 Y148* probably null Het
Jmjd4 T C 11: 59,450,743 S113P probably benign Het
Mpp5 A G 12: 78,809,821 D146G probably damaging Het
Nceh1 C T 3: 27,241,313 P241L probably damaging Het
Pcdh10 T A 3: 45,380,302 D350E probably damaging Het
Pdgfrl A G 8: 40,985,534 E169G probably damaging Het
Ppm1l T A 3: 69,317,950 D128E probably damaging Het
Rasa1 A G 13: 85,288,429 V160A probably benign Het
Serf2 T C 2: 121,457,703 probably null Het
Slitrk1 T A 14: 108,911,837 N481Y probably damaging Het
Tas2r139 T G 6: 42,141,121 S62R probably damaging Het
Tdpoz4 A T 3: 93,797,073 T226S probably benign Het
Tvp23b C A 11: 62,883,638 A36E probably damaging Het
Upp2 G A 2: 58,790,064 E301K probably benign Het
Other mutations in Cript
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2317:Cript UTSW 17 87027711 missense probably benign 0.17
R7276:Cript UTSW 17 87034268 nonsense probably null
Posted On2012-12-06