Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Kazn'

99670

Institutional Source

Beutler Lab

Gene Symbol

Kazn

Ensembl Gene

ENSMUSG00000040606

Gene Name

kazrin, periplakin interacting protein

Synonyms

9030409G11Rik, 2310007B04Rik

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R1173 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

141829701-142205056 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 141886349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q69ZS8

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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 benign
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

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam30	G	A	3: 98,070,222 (GRCm39)	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,837 (GRCm39)	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Amz1	A	T	5: 140,737,691 (GRCm39)		probably null	Het
Anapc5	G	A	5: 122,926,481 (GRCm39)	A619V	possibly damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bbox1	T	C	2: 110,095,956 (GRCm39)	D336G	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bpi	A	T	2: 158,109,660 (GRCm39)	I203F	probably benign	Het
Cd151	A	C	7: 141,050,569 (GRCm39)	T241P	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cdh23	G	A	10: 60,148,171 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,711,192 (GRCm39)	S240A	probably benign	Het
Ddc	A	C	11: 11,796,634 (GRCm39)		probably null	Het
Dkk1	T	C	19: 30,524,650 (GRCm39)	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,573,738 (GRCm39)	M191K	possibly damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,165,353 (GRCm39)		probably benign	Het
Fah	T	C	7: 84,250,344 (GRCm39)	M1V	probably null	Het
Fmo6	A	T	1: 162,753,710 (GRCm39)	M144K	probably damaging	Het
Frem1	A	G	4: 82,868,589 (GRCm39)	V1445A	probably benign	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gfm2	A	G	13: 97,301,708 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Htra4	T	C	8: 25,520,635 (GRCm39)	D342G	possibly damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Impdh2	T	C	9: 108,439,028 (GRCm39)	F99S	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kcnq3	T	A	15: 65,871,891 (GRCm39)	T593S	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Magi3	A	G	3: 103,968,946 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Meox2	T	C	12: 37,159,151 (GRCm39)	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,860 (GRCm39)	C722F	probably damaging	Het
Or2a5	T	C	6: 42,874,285 (GRCm39)	V300A	probably benign	Het
Pde10a	C	T	17: 9,139,378 (GRCm39)		probably benign	Het
Ppfia4	A	G	1: 134,260,021 (GRCm39)		probably benign	Het
Psg18	T	C	7: 18,088,742 (GRCm39)	M1V	probably null	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Retsat	T	C	6: 72,580,634 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Sfswap	G	A	5: 129,584,207 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,067,241 (GRCm39)	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,244,154 (GRCm39)	M376K	probably damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Srbd1	C	T	17: 86,405,940 (GRCm39)	C620Y	probably null	Het
Trip10	T	A	17: 57,560,363 (GRCm39)	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn1r123	C	T	7: 20,896,257 (GRCm39)	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,489,870 (GRCm39)	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,290,692 (GRCm39)	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,739,585 (GRCm39)	H437L	probably damaging	Het

Other mutations in Kazn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01721:Kazn	APN	4	141,886,354 (GRCm39)	critical splice donor site	probably null
IGL01959:Kazn	APN	4	141,878,195 (GRCm39)	missense	probably damaging	1.00
IGL02237:Kazn	APN	4	141,874,410 (GRCm39)	missense	probably benign	0.31
IGL02351:Kazn	APN	4	141,874,327 (GRCm39)	critical splice donor site	probably null
IGL02358:Kazn	APN	4	141,874,327 (GRCm39)	critical splice donor site	probably null
R2206:Kazn	UTSW	4	141,845,603 (GRCm39)	splice site	probably null
R3406:Kazn	UTSW	4	141,966,506 (GRCm39)	start gained	probably benign
R4007:Kazn	UTSW	4	141,834,203 (GRCm39)	missense	unknown
R4050:Kazn	UTSW	4	141,834,215 (GRCm39)	missense	unknown
R4598:Kazn	UTSW	4	141,937,403 (GRCm39)	missense	possibly damaging	0.53
R4606:Kazn	UTSW	4	141,845,599 (GRCm39)	splice site	probably null
R4631:Kazn	UTSW	4	141,845,471 (GRCm39)	unclassified	probably benign
R4866:Kazn	UTSW	4	141,832,216 (GRCm39)	missense	unknown
R5050:Kazn	UTSW	4	141,845,514 (GRCm39)	unclassified	probably benign
R5052:Kazn	UTSW	4	141,845,514 (GRCm39)	unclassified	probably benign
R5054:Kazn	UTSW	4	141,835,957 (GRCm39)	missense	unknown
R5758:Kazn	UTSW	4	141,868,982 (GRCm39)	critical splice donor site	probably null
R6152:Kazn	UTSW	4	141,836,598 (GRCm39)	missense	unknown
R6284:Kazn	UTSW	4	141,844,508 (GRCm39)	missense	probably benign	0.04
R7289:Kazn	UTSW	4	141,844,486 (GRCm39)	missense
R7414:Kazn	UTSW	4	141,836,649 (GRCm39)	missense
R7663:Kazn	UTSW	4	141,832,209 (GRCm39)	missense
R7814:Kazn	UTSW	4	141,937,481 (GRCm39)	missense	unknown
R8031:Kazn	UTSW	4	141,881,862 (GRCm39)	missense
R8184:Kazn	UTSW	4	141,845,441 (GRCm39)	missense	probably benign	0.04
R8315:Kazn	UTSW	4	141,869,002 (GRCm39)	missense
R8779:Kazn	UTSW	4	141,881,856 (GRCm39)	missense
R8990:Kazn	UTSW	4	141,868,947 (GRCm39)	missense	probably damaging	1.00
R9491:Kazn	UTSW	4	141,845,436 (GRCm39)	missense
Z1177:Kazn	UTSW	4	141,881,815 (GRCm39)	missense

Predicted Primers

Posted On

2014-01-15