Incidental Mutation 'IGL02479:Cask'
ID295083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cask
Ensembl Gene ENSMUSG00000031012
Gene Namecalcium/calmodulin-dependent serine protein kinase (MAGUK family)
SynonymsPals3, DXRib1, LIN-2, mLin-2, DXPri1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02479
Quality Score
Status
ChromosomeX
Chromosomal Location13517080-13851367 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13557058 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 502 (D502E)
Ref Sequence ENSEMBL: ENSMUSP00000120299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033321] [ENSMUST00000115436] [ENSMUST00000115438] [ENSMUST00000156096]
Predicted Effect probably damaging
Transcript: ENSMUST00000033321
AA Change: D528E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033321
Gene: ENSMUSG00000031012
AA Change: D528E

DomainStartEndE-ValueType
S_TKc 12 276 1.22e-100 SMART
L27 340 395 8.68e-14 SMART
L27 399 452 1.67e-15 SMART
PDZ 493 565 4.01e-14 SMART
SH3 597 663 1.75e-12 SMART
low complexity region 685 697 N/A INTRINSIC
GuKc 720 896 7.41e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115436
AA Change: D528E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111096
Gene: ENSMUSG00000031012
AA Change: D528E

DomainStartEndE-ValueType
S_TKc 12 276 1.22e-100 SMART
L27 340 395 8.68e-14 SMART
L27 399 452 1.67e-15 SMART
PDZ 493 565 4.01e-14 SMART
SH3 586 652 1.75e-12 SMART
low complexity region 674 686 N/A INTRINSIC
GuKc 709 885 7.41e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115438
AA Change: D528E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111098
Gene: ENSMUSG00000031012
AA Change: D528E

DomainStartEndE-ValueType
S_TKc 12 276 1.22e-100 SMART
L27 340 395 8.68e-14 SMART
L27 399 452 1.67e-15 SMART
PDZ 493 565 4.01e-14 SMART
SH3 609 675 1.75e-12 SMART
low complexity region 697 709 N/A INTRINSIC
GuKc 732 908 7.41e-78 SMART
Predicted Effect unknown
Transcript: ENSMUST00000139735
AA Change: D10E
SMART Domains Protein: ENSMUSP00000117862
Gene: ENSMUSG00000031012
AA Change: D10E

DomainStartEndE-ValueType
Pfam:PDZ 1 45 1.4e-9 PFAM
SH3 57 123 1.75e-12 SMART
low complexity region 145 157 N/A INTRINSIC
GuKc 180 282 4.77e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152358
Predicted Effect probably damaging
Transcript: ENSMUST00000156096
AA Change: D502E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120299
Gene: ENSMUSG00000031012
AA Change: D502E

DomainStartEndE-ValueType
S_TKc 1 250 2.71e-84 SMART
L27 314 369 8.68e-14 SMART
L27 373 426 1.67e-15 SMART
PDZ 467 539 4.01e-14 SMART
SH3 560 626 1.75e-12 SMART
low complexity region 648 660 N/A INTRINSIC
GuKc 683 859 7.41e-78 SMART
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 calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mutation of this gene results in cleft palate and perinatal lethality in hemizygous males and death within 2 weeks in females on a C57BL/6J background. Some female animals on a CD1 background survive to adulthood exhibiting patchy fur, wrinkled skin, a kinked tail and spine, and give birth to small and infrequent litters. Male and female animals on all genetic backgrounds exhibit reduced head size, shortened jaw, and a pointed snout. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,501,398 Y528C probably damaging Het
Adam24 T A 8: 40,679,532 I13N probably benign Het
Arsj T C 3: 126,438,939 S445P possibly damaging Het
Btf3l4 G A 4: 108,826,176 T31I possibly damaging Het
Cenpl T A 1: 161,083,067 S195T probably benign Het
Clhc1 T A 11: 29,578,107 I545N probably damaging Het
Clrn2 T C 5: 45,463,912 I216T probably benign Het
Csf2rb C T 15: 78,341,724 Q332* probably null Het
Cyp3a44 T C 5: 145,790,667 D284G probably benign Het
Dgka T C 10: 128,730,246 E345G probably benign Het
Dync1i2 G A 2: 71,235,979 V128I probably damaging Het
Eno3 T A 11: 70,660,888 probably benign Het
Epc2 T A 2: 49,532,135 I347K probably benign Het
F8 A T X: 75,288,240 N681K probably damaging Het
Fam207a T C 10: 77,514,327 S76G probably damaging Het
Fancm T A 12: 65,106,485 D1238E probably damaging Het
Fcna T A 2: 25,625,260 Q237L probably benign Het
Fpr2 A T 17: 17,892,812 R23S probably benign Het
Frmd3 A G 4: 74,187,515 D466G probably benign Het
Gen1 C A 12: 11,241,935 V618L probably benign Het
Gja4 T C 4: 127,312,424 E182G probably benign Het
Gsdmc T A 15: 63,777,975 I356F possibly damaging Het
Kctd19 T C 8: 105,384,768 D102G probably damaging Het
Lrit2 T C 14: 37,072,278 L433P probably damaging Het
Lrp2 G A 2: 69,464,801 probably benign Het
Luc7l3 G A 11: 94,296,909 probably benign Het
Map3k5 T A 10: 20,056,484 L458Q probably damaging Het
Mast4 A G 13: 102,742,037 S1038P probably damaging Het
Med12 A T X: 101,296,992 probably benign Het
Mtor T A 4: 148,470,584 L888M probably damaging Het
Nova1 A T 12: 46,816,918 I83N unknown Het
Obscn A G 11: 59,056,227 probably benign Het
Olfr1309 A C 2: 111,983,385 S230A probably benign Het
Olfr1320 T C X: 49,683,865 V121A probably benign Het
Olfr1426 T A 19: 12,087,905 M296L probably benign Het
Olfr420 C A 1: 174,158,954 Y60* probably null Het
Pde2a A G 7: 101,501,083 Y243C probably damaging Het
Pdzd8 T A 19: 59,299,783 K1062* probably null Het
Phc1 A T 6: 122,323,717 probably benign Het
Pik3c2g T A 6: 139,918,004 S764T probably benign Het
Pmp2 T G 3: 10,182,202 R89S probably benign Het
Prdm2 A G 4: 143,134,929 L597P probably damaging Het
Rfx6 T A 10: 51,678,328 D88E probably benign Het
Rgs9 T C 11: 109,225,652 S442G possibly damaging Het
Ror2 C T 13: 53,131,932 R82Q possibly damaging Het
Sez6 C A 11: 77,978,026 A986E possibly damaging Het
Slc5a5 T A 8: 70,888,911 M325L possibly damaging Het
Sppl2c G A 11: 104,186,937 V188I probably benign Het
Srrm3 G T 5: 135,835,249 C67F probably damaging Het
Stk31 A G 6: 49,421,688 E341G probably damaging Het
Svil A T 18: 5,099,476 M1267L probably damaging Het
Tas2r135 C T 6: 42,405,751 R75* probably null Het
Trav8d-1 T C 14: 52,778,800 S48P probably benign Het
Vrk1 A T 12: 106,051,002 Q95L probably benign Het
Wdr25 C A 12: 108,898,601 T224K probably benign Het
Wdr37 A T 13: 8,842,784 H224Q probably damaging Het
Zhx1 C T 15: 58,054,371 E160K probably damaging Het
Other mutations in Cask
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Cask APN X 13522260 missense probably damaging 0.99
IGL02118:Cask APN X 13559395 missense probably damaging 1.00
IGL02437:Cask APN X 13537621 missense probably damaging 1.00
IGL02635:Cask APN X 13714770 missense probably damaging 0.99
IGL02903:Cask APN X 13552447 intron probably benign
IGL03225:Cask APN X 13665521 missense possibly damaging 0.74
R0076:Cask UTSW X 13678274 intron probably benign
Posted On2015-04-16