Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01721:Kazn'

105126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kazn

Ensembl Gene

ENSMUSG00000040606

Gene Name

kazrin, periplakin interacting protein

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

IGL01721

Quality Score

Status

Chromosome

Chromosomal Location

142102390-142239401 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 142159043 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036476] [ENSMUST00000129032]

Predicted Effect

probably null
Transcript: ENSMUST00000036476

SMART Domains

Protein: ENSMUSP00000038835
Gene: ENSMUSG00000040606

Domain	Start	End	E-Value	Type
low complexity region	68	88	N/A	INTRINSIC
SCOP:d1eq1a_	113	248	8e-3	SMART
low complexity region	368	375	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000129032

SMART Domains

Protein: ENSMUSP00000115897
Gene: ENSMUSG00000040606

Domain	Start	End	E-Value	Type
coiled coil region	7	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144611

Predicted Effect

probably null
Transcript: ENSMUST00000155023

SMART Domains

Protein: ENSMUSP00000116071
Gene: ENSMUSG00000040606

Domain	Start	End	E-Value	Type
coiled coil region	1	180	N/A	INTRINSIC
low complexity region	299	306	N/A	INTRINSIC
SAM	367	435	6.32e-6	SMART
SAM	444	512	4.17e-6	SMART
SAM	533	602	3.37e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000172864

SMART Domains

Protein: ENSMUSP00000133972
Gene: ENSMUSG00000040606

Domain	Start	End	E-Value	Type
coiled coil region	1	180	N/A	INTRINSIC
low complexity region	299	306	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173068

SMART Domains

Protein: ENSMUSP00000134498
Gene: ENSMUSG00000040606

Domain	Start	End	E-Value	Type
coiled coil region	1	74	N/A	INTRINSIC
low complexity region	194	201	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000174432

SMART Domains

Protein: ENSMUSP00000134631
Gene: ENSMUSG00000040606

Domain	Start	End	E-Value	Type
coiled coil region	1	180	N/A	INTRINSIC
low complexity region	300	307	N/A	INTRINSIC

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 protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable, fertile and grossly normal with no obvious defects in skin development or homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,139,253	M51V	possibly damaging	Het
Acad8	A	G	9: 26,992,267		probably benign	Het
Atp2a2	A	G	5: 122,500,792	V53A	possibly damaging	Het
Bicra	T	C	7: 15,988,699	T298A	probably benign	Het
Ccdc185	C	T	1: 182,748,978	E49K	possibly damaging	Het
Cfhr2	A	G	1: 139,813,614	S208P	probably benign	Het
Chd1	T	C	17: 15,770,168	Y1661H	probably damaging	Het
Cntnap5a	A	G	1: 116,157,637	H435R	probably benign	Het
Cog8	A	G	8: 107,054,065	V187A	probably benign	Het
Col24a1	A	G	3: 145,538,567	H1532R	probably benign	Het
Dpp6	A	G	5: 27,631,520	Y336C	probably damaging	Het
Drosha	T	A	15: 12,846,112	Y444*	probably null	Het
Egf	A	T	3: 129,697,722	C374*	probably null	Het
Eif2b3	C	T	4: 117,058,804	H203Y	probably damaging	Het
Erbb4	A	G	1: 68,254,563	V723A	possibly damaging	Het
Fbxo21	T	C	5: 117,988,790	I202T	probably benign	Het
Gbp6	T	C	5: 105,274,207	M544V	probably benign	Het
Gm10750	T	C	2: 149,016,044	T96A	unknown	Het
Gm1840	A	T	8: 5,639,896		noncoding transcript	Het
Gm8232	A	T	14: 44,437,183		probably null	Het
Gsdma3	T	C	11: 98,637,956	V412A	possibly damaging	Het
Hs6st1	A	T	1: 36,068,935	H93L	probably damaging	Het
Hsf2	G	A	10: 57,496,181	E77K	probably benign	Het
Ing3	T	A	6: 21,968,880		probably benign	Het
Ints6	T	C	14: 62,713,739	I280M	probably damaging	Het
Klhl20	T	C	1: 161,095,587	Y13C	probably damaging	Het
Krtap26-1	G	A	16: 88,647,172	P187L	probably damaging	Het
Mga	T	A	2: 119,935,239	I1329K	probably damaging	Het
Mindy4	A	G	6: 55,223,999	D223G	probably damaging	Het
Ncor2	T	C	5: 125,050,937	E124G	probably damaging	Het
Nfat5	G	A	8: 107,344,979		probably null	Het
Nkain1	A	G	4: 130,532,134	F184L	probably benign	Het
Olfr1061	T	C	2: 86,413,333	T240A	probably damaging	Het
Rars	A	T	11: 35,828,664	F110L	probably damaging	Het
Rfx6	A	C	10: 51,723,077	K509N	probably damaging	Het
Serpinb2	T	C	1: 107,515,603	L44P	probably damaging	Het
Sin3a	G	A	9: 57,095,325	R167Q	probably damaging	Het
Sos2	T	A	12: 69,603,867	T809S	probably damaging	Het
Stard9	A	G	2: 120,703,330	E3356G	probably damaging	Het
Vmn1r52	A	G	6: 90,178,923	T70A	probably benign	Het

Other mutations in Kazn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Kazn	APN	4	142150884	missense	probably damaging	1.00
IGL02237:Kazn	APN	4	142147099	missense	probably benign	0.31
IGL02351:Kazn	APN	4	142147016	critical splice donor site	probably null
IGL02358:Kazn	APN	4	142147016	critical splice donor site	probably null
R1173:Kazn	UTSW	4	142159038	splice site	probably benign
R2206:Kazn	UTSW	4	142118292	splice site	probably null
R3406:Kazn	UTSW	4	142239195	start gained	probably benign
R4007:Kazn	UTSW	4	142106892	missense	unknown
R4050:Kazn	UTSW	4	142106904	missense	unknown
R4598:Kazn	UTSW	4	142210092	missense	possibly damaging	0.53
R4606:Kazn	UTSW	4	142118288	splice site	probably null
R4631:Kazn	UTSW	4	142118160	unclassified	probably benign
R4866:Kazn	UTSW	4	142104905	missense	unknown
R5050:Kazn	UTSW	4	142118203	unclassified	probably benign
R5052:Kazn	UTSW	4	142118203	unclassified	probably benign
R5054:Kazn	UTSW	4	142108646	missense	unknown
R5758:Kazn	UTSW	4	142141671	critical splice donor site	probably null
R6152:Kazn	UTSW	4	142109287	missense	unknown
R6284:Kazn	UTSW	4	142117197	missense	probably benign	0.04
R7289:Kazn	UTSW	4	142117175	missense
R7414:Kazn	UTSW	4	142109338	missense
R7663:Kazn	UTSW	4	142104898	missense
R7814:Kazn	UTSW	4	142210170	missense	unknown
R8031:Kazn	UTSW	4	142154551	missense
R8184:Kazn	UTSW	4	142118130	missense	probably benign	0.04
R8315:Kazn	UTSW	4	142141691	missense
Z1177:Kazn	UTSW	4	142154504	missense

Posted On

2014-01-21