Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01317:Cask'

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

Status

Chromosome

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

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 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

Domain	Start	End	E-Value	Type
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

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

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

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

unknown
Transcript: ENSMUST00000128095
AA Change: E162K

SMART Domains

Protein: ENSMUSP00000122664
Gene: ENSMUSG00000031012
AA Change: E162K

Domain	Start	End	E-Value	Type
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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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