Mutagenetix > Incidental Mutation

Incidental Mutation 'R2206:Kazn'

239032

Institutional Source

Beutler Lab

Gene Symbol

Kazn

Ensembl Gene

ENSMUSG00000040606

Gene Name

kazrin, periplakin interacting protein

Synonyms

9030409G11Rik, 2310007B04Rik

MMRRC Submission

040208-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R2206 (G1)

Quality Score

116

Status

Not validated

Chromosome

Chromosomal Location

141829701-142205056 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 141845603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

Q69ZS8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135922

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: 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: 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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,964,331 (GRCm39)	C24S	probably benign	Het
2410137M14Rik	A	G	17: 37,288,965 (GRCm39)		probably benign	Het
Abhd18	G	A	3: 40,865,008 (GRCm39)	G83D	probably benign	Het
Adam34	T	C	8: 44,105,274 (GRCm39)	I124V	probably benign	Het
Adck2	A	G	6: 39,560,773 (GRCm39)	D123G	probably damaging	Het
Arhgef2	A	G	3: 88,537,221 (GRCm39)	E37G	probably damaging	Het
Axl	T	C	7: 25,470,061 (GRCm39)	Y466C	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bpifb9a	A	T	2: 154,106,161 (GRCm39)		probably null	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,603,987 (GRCm39)	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133 (GRCm39)	Y109C	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cst13	A	T	2: 148,665,202 (GRCm39)	R66W	probably damaging	Het
Cstf2t	A	G	19: 31,061,175 (GRCm39)	N237S	probably benign	Het
Dhx8	A	G	11: 101,641,797 (GRCm39)	T632A	probably benign	Het
Disp2	G	T	2: 118,622,725 (GRCm39)	Q1152H	probably benign	Het
Dlg1	A	G	16: 31,672,664 (GRCm39)	H599R	probably benign	Het
Dmxl1	T	C	18: 50,027,161 (GRCm39)	S2090P	probably benign	Het
Dnajc13	C	G	9: 104,080,717 (GRCm39)	V821L	probably damaging	Het
Dop1a	T	A	9: 86,403,652 (GRCm39)	H1617Q	probably benign	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Ephb4	T	C	5: 137,355,981 (GRCm39)	C197R	probably damaging	Het
Foxn1	C	A	11: 78,249,630 (GRCm39)	A632S	probably benign	Het
Fpr3	A	C	17: 18,190,908 (GRCm39)	T60P	probably damaging	Het
Gja4	A	T	4: 127,206,410 (GRCm39)	S118T	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itfg1	A	T	8: 86,502,827 (GRCm39)	S246R	probably benign	Het
Mdn1	T	C	4: 32,716,271 (GRCm39)	L2111P	possibly damaging	Het
Myo6	A	G	9: 80,165,737 (GRCm39)	Y374C	probably benign	Het
Odad2	C	A	18: 7,223,676 (GRCm39)	G456W	probably benign	Het
Or1a1	G	T	11: 74,087,150 (GRCm39)	V274L	possibly damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or5b99	A	G	19: 12,976,404 (GRCm39)	D18G	probably benign	Het
Or9m1b	A	G	2: 87,836,579 (GRCm39)	V181A	probably benign	Het
Pcdhb15	A	T	18: 37,608,075 (GRCm39)	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,624,342 (GRCm39)	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,468,633 (GRCm39)	M518T	probably benign	Het
Pcmtd1	A	T	1: 7,239,807 (GRCm39)	I83L	probably benign	Het
Pitrm1	T	A	13: 6,619,327 (GRCm39)	Y721N	probably damaging	Het
Prcp	C	T	7: 92,577,820 (GRCm39)	T328I	probably damaging	Het
Psg27	C	A	7: 18,301,036 (GRCm39)	E6*	probably null	Het
Pth1r	T	A	9: 110,552,655 (GRCm39)	E465V	probably damaging	Het
Pus7l	T	C	15: 94,421,471 (GRCm39)	Y613C	probably damaging	Het
Rsl1	A	G	13: 67,330,892 (GRCm39)	T447A	probably benign	Het
Setd3	C	T	12: 108,073,544 (GRCm39)	V578M	probably benign	Het
Slc10a1	T	C	12: 81,014,402 (GRCm39)	N106S	probably damaging	Het
Slc29a3	T	C	10: 60,551,686 (GRCm39)	M453V	possibly damaging	Het
Slc4a8	T	C	15: 100,705,326 (GRCm39)	V844A	probably damaging	Het
Sorcs1	T	C	19: 50,218,655 (GRCm39)	H609R	possibly damaging	Het
Spata31d1e	A	G	13: 59,890,920 (GRCm39)	V300A	probably benign	Het
Tmppe	C	G	9: 114,234,640 (GRCm39)	P313R	probably benign	Het
Tnxb	A	C	17: 34,928,391 (GRCm39)	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,839,701 (GRCm39)	N1643S	probably benign	Het
Trmt1l	T	C	1: 151,311,594 (GRCm39)		probably null	Het
Vmn1r177	A	T	7: 23,565,556 (GRCm39)	C107S	probably damaging	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Wdr7	T	A	18: 63,910,678 (GRCm39)	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,194,228 (GRCm39)	E36D	possibly damaging	Het
Zbtb40	G	A	4: 136,744,596 (GRCm39)	Q275*	probably null	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	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
R1173:Kazn	UTSW	4	141,886,349 (GRCm39)	splice site	probably benign
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

2014-10-02