Incidental Mutation 'IGL01317:Cask'
ID 73878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cask
Ensembl Gene ENSMUSG00000031012
Gene Name calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Synonyms Pals3, DXRib1, LIN-2, mLin-2, DXPri1
Accession Numbers
Essential gene? Not available question?
Stock # IGL01317
Quality Score
Chromosome X
Chromosomal Location 13517080-13851367 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13522260 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 83 (E83K)
Ref Sequence ENSEMBL: ENSMUSP00000111095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033321] [ENSMUST00000115435] [ENSMUST00000115436] [ENSMUST00000115438] [ENSMUST00000156096]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033321
AA Change: E880K

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033321
Gene: ENSMUSG00000031012
AA Change: E880K

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: ENSMUST00000115435
AA Change: E83K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111095
Gene: ENSMUSG00000031012
AA Change: E83K

Pfam:Guanylate_kin 22 97 1.6e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115436
AA Change: E869K

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111096
Gene: ENSMUSG00000031012
AA Change: E869K

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 possibly damaging
Transcript: ENSMUST00000115438
AA Change: E892K

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111098
Gene: ENSMUSG00000031012
AA Change: E892K

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: ENSMUST00000128095
AA Change: E162K
SMART Domains Protein: ENSMUSP00000122664
Gene: ENSMUSG00000031012
AA Change: E162K

GuKc 1 179 6.82e-68 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000156096
AA Change: E843K

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120299
Gene: ENSMUSG00000031012
AA Change: E843K

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,872,581 D609E probably damaging Het
Aldh3b1 T C 19: 3,918,104 I352V probably benign Het
Apeh A T 9: 108,086,207 S605R probably benign Het
Arhgap32 A G 9: 32,256,964 K748E probably benign Het
Avpr1a T C 10: 122,449,567 S255P probably benign Het
Cadps2 T A 6: 23,314,173 D1124V possibly damaging Het
Ccdc129 G T 6: 55,967,805 A504S possibly damaging Het
Cep170b A G 12: 112,737,644 Y670C probably damaging Het
Chd3 A G 11: 69,353,211 Y1343H probably damaging Het
Cit T A 5: 115,908,716 V396D probably benign Het
Cldn18 T C 9: 99,696,082 T203A probably benign Het
Dido1 A C 2: 180,671,757 N907K probably benign Het
Dmbt1 T A 7: 131,041,191 D246E probably damaging Het
Dph1 T C 11: 75,180,660 H303R probably benign Het
Dspp T A 5: 104,174,048 Y8N probably damaging Het
Efhc2 C T X: 17,204,959 probably benign Het
Fam160a1 T C 3: 85,672,846 D684G probably benign Het
Fam171a1 T A 2: 3,202,626 V215E probably damaging Het
Foxm1 T A 6: 128,367,353 M22K probably damaging Het
Gdpd4 A C 7: 97,998,258 M371L possibly damaging Het
Hdac9 T C 12: 34,429,489 probably benign Het
Heatr1 T A 13: 12,399,027 W162R probably damaging Het
Hydin A T 8: 110,326,446 D250V probably damaging Het
Itga4 T A 2: 79,322,661 C897* probably null Het
Kcnd2 T C 6: 21,727,340 *631Q probably null Het
Kcnn2 A G 18: 45,560,627 probably null Het
Lama1 A T 17: 67,818,701 E2951V probably damaging Het
Lyst A G 13: 13,670,870 Q1944R probably benign Het
Mmp14 A G 14: 54,435,790 T52A possibly damaging Het
Mrgpra1 A T 7: 47,335,624 N102K probably benign Het
Mrpl28 G A 17: 26,125,515 G205D probably damaging Het
Mtmr4 T C 11: 87,602,404 probably benign Het
Olfr1308 T A 2: 111,960,275 H266L possibly damaging Het
Oog2 A G 4: 144,195,267 N249S probably benign Het
Ppp6r2 T A 15: 89,285,928 V882E possibly damaging Het
Qser1 A C 2: 104,786,979 Y1073D probably damaging Het
Rbl2 C A 8: 91,100,057 D480E probably damaging Het
Rfx7 G A 9: 72,618,536 G1003S probably damaging Het
Rrh A C 3: 129,822,425 F20V possibly damaging Het
Rwdd3 A G 3: 121,171,633 I15T possibly damaging Het
Sestd1 A T 2: 77,192,545 M493K possibly damaging Het
Slc17a8 T A 10: 89,620,804 L32F probably benign Het
Slc29a4 A G 5: 142,705,530 D55G probably benign Het
Tbc1d10a A T 11: 4,212,826 Y223F probably benign Het
Tbx20 A G 9: 24,769,755 V147A probably damaging Het
Tmem63c A T 12: 87,071,996 probably benign Het
Tmtc2 C A 10: 105,413,785 R29L probably damaging Het
Ttc21b T A 2: 66,188,356 M1236L probably benign Het
Unc119 T A 11: 78,347,226 C12S probably damaging Het
Vcan A G 13: 89,691,668 M1919T probably benign Het
Zmat4 C A 8: 23,902,169 T47K probably benign Het
Other mutations in Cask
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02118:Cask APN X 13559395 missense probably damaging 1.00
IGL02437:Cask APN X 13537621 missense probably damaging 1.00
IGL02479:Cask APN X 13557058 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
Z1176:Cask UTSW X 13533489 missense probably benign 0.33
Posted On 2013-10-07