Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03225:Cask'

413754

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 #

IGL03225

Quality Score

Status

Chromosome

Chromosomal Location

13383319-13713020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13531760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 103 (M103V)

Ref Sequence

ENSEMBL: ENSMUSP00000062535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033321] [ENSMUST00000053659] [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

possibly damaging
Transcript: ENSMUST00000053659
AA Change: M103V

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000062535
Gene: ENSMUSG00000047678
AA Change: M103V

Domain	Start	End	E-Value	Type
Pfam:7tm_1	32	310	5.8e-23	PFAM

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

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	A	G	7: 50,249,668 (GRCm39)	K234R	probably benign	Het
Adam21	T	C	12: 81,606,043 (GRCm39)	E573G	probably benign	Het
Aox4	A	T	1: 58,286,386 (GRCm39)	I673F	possibly damaging	Het
Arfgef1	A	T	1: 10,224,543 (GRCm39)	I1431N	probably damaging	Het
Clba1	T	C	12: 112,779,211 (GRCm39)	Y283H	probably damaging	Het
Fam83h	T	C	15: 75,875,150 (GRCm39)	E729G	probably damaging	Het
Gnb4	T	C	3: 32,641,881 (GRCm39)	T249A	probably damaging	Het
Gpr12	A	G	5: 146,520,761 (GRCm39)	S54P	probably damaging	Het
Krt20	A	G	11: 99,322,756 (GRCm39)	V293A	probably damaging	Het
Lonrf1	A	G	8: 36,689,855 (GRCm39)	V706A	probably damaging	Het
Lrrc58	T	G	16: 37,701,632 (GRCm39)	C303W	probably damaging	Het
Mbnl2	A	G	14: 120,622,875 (GRCm39)	T138A	probably benign	Het
Mss51	G	A	14: 20,537,205 (GRCm39)	R88*	probably null	Het
Nup214	T	A	2: 31,924,423 (GRCm39)	S146T	probably damaging	Het
Otop2	G	A	11: 115,220,633 (GRCm39)	R491H	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Prkcz	A	T	4: 155,352,652 (GRCm39)	F492I	probably damaging	Het
Sgtb	T	C	13: 104,268,453 (GRCm39)	L163P	probably damaging	Het
Spsb3	T	C	17: 25,110,045 (GRCm39)	I365T	possibly damaging	Het
Tmem273	A	G	14: 32,527,133 (GRCm39)	I33M	probably damaging	Het
Trio	T	C	15: 27,902,781 (GRCm39)	I227V	probably benign	Het
Vdac1	G	A	11: 52,267,482 (GRCm39)	R93H	probably benign	Het
Wasf2	A	G	4: 132,903,857 (GRCm39)	T22A	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
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

2016-08-02