Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Cask'

16878

Institutional Source

Beutler Lab

Gene Symbol

Cask

Ensembl Gene

ENSMUSG00000031012

Gene Name

calcium/calmodulin dependent serine protein kinase

Synonyms

DXRib1, mLin-2, DXPri1, LIN-2, Pals3

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

13383319-13713020 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 13544513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033321] [ENSMUST00000115436] [ENSMUST00000115438] [ENSMUST00000124710] [ENSMUST00000156096]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033321

SMART Domains

Protein: ENSMUSP00000033321
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000111096
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000115438

SMART Domains

Protein: ENSMUSP00000111098
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000124710

SMART Domains

Protein: ENSMUSP00000119584
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
Pfam:Pkinase	12	155	9.7e-33	PFAM
Pfam:Pkinase_Tyr	12	155	6.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128012

SMART Domains

Protein: ENSMUSP00000114187
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	137	1.1e-32	PFAM
Pfam:Pkinase_Tyr	2	134	2.3e-10	PFAM
L27	207	249	1.81e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152358

Predicted Effect

probably benign
Transcript: ENSMUST00000156096

SMART Domains

Protein: ENSMUSP00000120299
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,972,908 (GRCm39)		probably benign	Het
Acp3	A	G	9: 104,201,417 (GRCm39)		probably benign	Het
Ada	T	A	2: 163,569,523 (GRCm39)		probably benign	Het
Ankrd17	T	A	5: 90,392,265 (GRCm39)	K1693*	probably null	Het
Arhgef38	T	A	3: 132,866,507 (GRCm39)	H210L	possibly damaging	Het
Car10	G	A	11: 93,381,423 (GRCm39)	E129K	possibly damaging	Het
Cd19	T	C	7: 126,010,034 (GRCm39)	D406G	probably damaging	Het
Cd93	T	C	2: 148,284,056 (GRCm39)	D430G	probably benign	Het
Cds1	T	C	5: 101,965,706 (GRCm39)		probably benign	Het
Cerkl	A	T	2: 79,173,633 (GRCm39)	S259T	possibly damaging	Het
Cfap91	G	A	16: 38,123,046 (GRCm39)	Q661*	probably null	Het
Cog8	T	C	8: 107,780,765 (GRCm39)	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,268,713 (GRCm39)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,276,578 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,454,117 (GRCm39)	Q1241*	probably null	Het
Dock3	A	C	9: 106,788,685 (GRCm39)		probably benign	Het
Dus1l	A	T	11: 120,683,634 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,898,926 (GRCm39)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,809,049 (GRCm39)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,204,224 (GRCm39)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,748,481 (GRCm39)		probably benign	Het
Fyb2	A	G	4: 104,802,661 (GRCm39)	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,039,462 (GRCm39)	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,260,448 (GRCm39)		noncoding transcript	Het
Gmfb	C	A	14: 47,054,912 (GRCm39)	A11S	probably benign	Het
Gpat4	G	A	8: 23,680,721 (GRCm39)		probably benign	Het
Ifitm6	T	A	7: 140,595,920 (GRCm39)	R124S	possibly damaging	Het
Il17rd	T	A	14: 26,816,811 (GRCm39)	L172Q	probably damaging	Het
Il4	A	T	11: 53,504,741 (GRCm39)	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,466,735 (GRCm39)	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,741,356 (GRCm39)		probably benign	Het
Mark1-ps1	T	A	17: 54,254,905 (GRCm39)		noncoding transcript	Het
Mndal	G	T	1: 173,702,013 (GRCm39)	C96*	probably null	Het
Mroh1	T	C	15: 76,335,340 (GRCm39)	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,376,268 (GRCm39)		probably benign	Het
Mthfsd	C	A	8: 121,825,478 (GRCm39)	V270F	probably benign	Het
Nbas	T	A	12: 13,374,337 (GRCm39)	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,611,412 (GRCm39)	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,533,382 (GRCm39)	Y131F	possibly damaging	Het
Plec	T	C	15: 76,075,614 (GRCm39)		probably benign	Het
Polr2b	T	A	5: 77,474,408 (GRCm39)	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,485,717 (GRCm39)	Q106*	probably null	Het
Ptprd	T	C	4: 75,865,276 (GRCm39)		probably benign	Het
Rad54b	G	A	4: 11,609,480 (GRCm39)		probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Scn7a	A	G	2: 66,544,381 (GRCm39)	V370A	probably benign	Het
Sec1	A	G	7: 45,328,315 (GRCm39)	V244A	probably damaging	Het
Serac1	A	G	17: 6,115,212 (GRCm39)		probably benign	Het
Slco2b1	A	T	7: 99,334,708 (GRCm39)	Y254*	probably null	Het
Steap3	G	A	1: 120,155,460 (GRCm39)	R500C	probably damaging	Het
Stk10	A	G	11: 32,553,722 (GRCm39)	T580A	probably benign	Het
Tpo	C	T	12: 30,154,022 (GRCm39)	G228R	probably damaging	Het
Tpx2	T	C	2: 152,735,603 (GRCm39)	F744L	probably damaging	Het
Ube3b	G	T	5: 114,546,278 (GRCm39)		probably null	Het
Vmn2r84	A	G	10: 130,230,062 (GRCm39)	S17P	probably damaging	Het
Vps13d	A	T	4: 144,891,264 (GRCm39)		probably benign	Het
Zfp532	T	A	18: 65,818,698 (GRCm39)	S851R	probably benign	Het
Zfp623	G	A	15: 75,819,058 (GRCm39)	E5K	probably benign	Het

Other mutations in Cask

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02437:Cask	APN	X	13,403,860 (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
Z1176:Cask	UTSW	X	13,399,728 (GRCm39)	missense	probably benign	0.33

Posted On

2013-01-20