Incidental Mutation 'IGL02437:Cask'
ID 293300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cask
Ensembl Gene ENSMUSG00000031012
Gene Name calcium/calmodulin dependent serine protein kinase
Synonyms DXRib1, mLin-2, DXPri1, LIN-2, Pals3
Accession Numbers
Essential gene? Not available question?
Stock # IGL02437
Quality Score
Status
Chromosome X
Chromosomal Location 13383319-13713020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13403860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 16 (T16I)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033321] [ENSMUST00000115436] [ENSMUST00000115438] [ENSMUST00000156096]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033321
AA Change: T743I

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033321
Gene: ENSMUSG00000031012
AA Change: T743I

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 benign
Transcript: ENSMUST00000115436
AA Change: T732I

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000111096
Gene: ENSMUSG00000031012
AA Change: T732I

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: T755I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111098
Gene: ENSMUSG00000031012
AA Change: T755I

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 probably damaging
Transcript: ENSMUST00000128095
AA Change: T16I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122664
Gene: ENSMUSG00000031012
AA Change: T16I

DomainStartEndE-ValueType
GuKc 1 179 6.82e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139735
AA Change: T202I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117862
Gene: ENSMUSG00000031012
AA Change: T202I

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 probably benign
Transcript: ENSMUST00000156096
AA Change: T706I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120299
Gene: ENSMUSG00000031012
AA Change: T706I

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca16 T G 7: 120,132,952 (GRCm39) C1294G probably benign Het
Abca7 T A 10: 79,844,223 (GRCm39) S1410T probably damaging Het
Abhd12 T C 2: 150,676,289 (GRCm39) D356G probably benign Het
BC004004 T C 17: 29,517,671 (GRCm39) L295P probably damaging Het
Bpifc T C 10: 85,824,595 (GRCm39) S215G probably damaging Het
Bptf C T 11: 106,965,521 (GRCm39) M1109I probably benign Het
Brat1 C T 5: 140,698,563 (GRCm39) A245V possibly damaging Het
Cemip2 T C 19: 21,789,342 (GRCm39) probably null Het
Cibar2 T C 8: 120,901,525 (GRCm39) E60G probably damaging Het
Clic6 A T 16: 92,327,817 (GRCm39) I541F probably damaging Het
Clnk C T 5: 38,931,909 (GRCm39) probably null Het
Cntnap1 T A 11: 101,077,677 (GRCm39) I1113N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp26a1 T C 19: 37,686,943 (GRCm39) S132P probably benign Het
Cyp4f13 G T 17: 33,149,582 (GRCm39) H85N probably benign Het
Dcaf15 C T 8: 84,828,445 (GRCm39) G215D probably damaging Het
Dip2a T C 10: 76,134,101 (GRCm39) T500A probably benign Het
Gbe1 T A 16: 70,231,546 (GRCm39) probably benign Het
Gli2 T A 1: 118,763,733 (GRCm39) I1473F probably damaging Het
Gm5129 A T 5: 29,940,861 (GRCm39) probably benign Het
Hdgf C T 3: 87,821,792 (GRCm39) R168C probably damaging Het
Heph A G X: 95,516,633 (GRCm39) T342A probably benign Het
Kdelr3 T C 15: 79,409,988 (GRCm39) Y158H probably damaging Het
Lamb3 C T 1: 193,010,253 (GRCm39) R289C probably damaging Het
Leng8 C T 7: 4,145,092 (GRCm39) A164V probably damaging Het
Ltn1 T C 16: 87,194,889 (GRCm39) T1337A probably benign Het
Mast3 C A 8: 71,233,202 (GRCm39) R316L possibly damaging Het
Nampt A G 12: 32,880,215 (GRCm39) Y36C probably damaging Het
Ncapd3 T A 9: 26,975,264 (GRCm39) probably benign Het
Nipbl T C 15: 8,388,558 (GRCm39) D354G probably damaging Het
Nsd1 A T 13: 55,461,254 (GRCm39) R2494W probably damaging Het
Nt5c1a A G 4: 123,108,034 (GRCm39) N239S probably benign Het
Ogfr A G 2: 180,231,329 (GRCm39) E19G possibly damaging Het
Or11h4b A T 14: 50,918,657 (GRCm39) S145T probably benign Het
Or4c58 A G 2: 89,675,128 (GRCm39) L63P probably damaging Het
Pcna A T 2: 132,093,155 (GRCm39) probably benign Het
Pdia3 T A 2: 121,264,129 (GRCm39) V326E probably damaging Het
Phf8 T A X: 150,414,356 (GRCm39) L1002Q possibly damaging Het
Rhobtb2 T C 14: 70,033,365 (GRCm39) E535G probably damaging Het
Rusc2 G T 4: 43,415,545 (GRCm39) D284Y probably damaging Het
Samd8 A G 14: 21,825,491 (GRCm39) Y212C probably benign Het
Sash3 C A X: 47,247,672 (GRCm39) Q169K probably benign Het
Scyl1 C T 19: 5,816,224 (GRCm39) G324S probably damaging Het
Sec62 G A 3: 30,872,996 (GRCm39) G360R unknown Het
Sis T C 3: 72,826,947 (GRCm39) probably null Het
Slc6a1 T A 6: 114,285,578 (GRCm39) I338N probably damaging Het
Snrnp200 A G 2: 127,058,030 (GRCm39) D264G probably damaging Het
Tgm3 G T 2: 129,871,961 (GRCm39) probably null Het
Tnrc6b T G 15: 80,764,658 (GRCm39) L720R probably damaging Het
Tspyl4 A T 10: 34,174,228 (GRCm39) Q240L probably damaging Het
Tube1 G A 10: 39,016,846 (GRCm39) V80I probably damaging Het
Uap1l1 C T 2: 25,253,945 (GRCm39) V304M probably damaging Het
Wtap T C 17: 13,186,620 (GRCm39) N309S probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfyve26 T C 12: 79,315,621 (GRCm39) D1285G probably benign Het
Zscan20 G A 4: 128,482,210 (GRCm39) T484I probably damaging Het
Other mutations in Cask
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Cask APN X 13,388,499 (GRCm39) missense probably damaging 0.99
IGL02118:Cask APN X 13,425,634 (GRCm39) missense probably damaging 1.00
IGL02479:Cask APN X 13,423,297 (GRCm39) missense probably damaging 1.00
IGL02635:Cask APN X 13,581,009 (GRCm39) missense probably damaging 0.99
IGL02903:Cask APN X 13,418,686 (GRCm39) intron probably benign
IGL03225:Cask APN X 13,531,760 (GRCm39) missense possibly damaging 0.74
R0076:Cask UTSW X 13,544,513 (GRCm39) intron probably benign
Z1176:Cask UTSW X 13,399,728 (GRCm39) missense probably benign 0.33
Posted On 2015-04-16