Mutagenetix > Incidental Mutation

Incidental Mutation 'R7289:Kazn'

566222

Institutional Source

Beutler Lab

Gene Symbol

Kazn

Ensembl Gene

ENSMUSG00000040606

Gene Name

kazrin, periplakin interacting protein

Synonyms

9030409G11Rik, 2310007B04Rik

MMRRC Submission

045396-MU

Accession Numbers

Essential gene?

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

Stock #

R7289 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141829701-142205056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141844486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 409 (L409Q)

Gene Model

predicted gene model for transcript(s):

AlphaFold

Q69ZS8

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116071
Gene: ENSMUSG00000040606
AA Change: L409Q

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: 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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,818,550 (GRCm39)	D112N	probably damaging	Het
Abca7	T	A	10: 79,845,778 (GRCm39)	I1580K	probably damaging	Het
Aebp1	A	G	11: 5,815,059 (GRCm39)	D234G	probably damaging	Het
Agap1	T	A	1: 89,383,153 (GRCm39)	M1K	probably null	Het
Agrn	A	T	4: 156,263,389 (GRCm39)	L345H	probably damaging	Het
Amfr	A	G	8: 94,725,754 (GRCm39)	M209T	possibly damaging	Het
Angel2	G	A	1: 190,673,371 (GRCm39)	R338H	possibly damaging	Het
Ankrd27	C	T	7: 35,330,674 (GRCm39)	A866V	probably damaging	Het
Apc	G	A	18: 34,448,324 (GRCm39)	R1740Q	probably damaging	Het
Arhgap32	A	T	9: 32,168,233 (GRCm39)	S739C	possibly damaging	Het
Arhgap32	G	C	9: 32,168,234 (GRCm39)	S739T	probably benign	Het
Arhgef2	C	T	3: 88,543,192 (GRCm39)	S418L	probably benign	Het
Arhgef25	T	C	10: 127,019,641 (GRCm39)	T472A	possibly damaging	Het
Atrnl1	C	T	19: 57,638,846 (GRCm39)	S328F	probably benign	Het
Bahcc1	C	T	11: 120,171,000 (GRCm39)	A1514V	probably benign	Het
Calcoco2	C	T	11: 95,990,823 (GRCm39)	E305K	unknown	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdc42bpa	A	T	1: 179,889,362 (GRCm39)	K203*	probably null	Het
Cmc1	A	T	9: 117,904,250 (GRCm39)	I47N	possibly damaging	Het
Cntln	A	G	4: 84,964,540 (GRCm39)	E656G	possibly damaging	Het
Dcun1d3	T	C	7: 119,458,864 (GRCm39)	K57R	possibly damaging	Het
Ddx23	T	C	15: 98,546,492 (GRCm39)	E559G	probably damaging	Het
Dennd6a	G	A	14: 26,333,193 (GRCm39)	R367Q	probably damaging	Het
Desi2	A	T	1: 178,083,702 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,301,424 (GRCm39)	D2160G	unknown	Het
Efcab3	T	C	11: 104,929,184 (GRCm39)	M4838T	probably benign	Het
Epb41	A	G	4: 131,718,520 (GRCm39)		probably null	Het
Esrrb	T	A	12: 86,517,331 (GRCm39)		probably null	Het
Fabp1	C	A	6: 71,180,111 (GRCm39)	T94N	probably benign	Het
Fam120a	A	T	13: 49,045,482 (GRCm39)	C785S	probably damaging	Het
Fam243	T	C	16: 92,117,710 (GRCm39)	I193V	probably damaging	Het
Foxc1	A	G	13: 31,991,243 (GRCm39)	Y18C	probably damaging	Het
Fshr	T	C	17: 89,293,272 (GRCm39)	T469A	probably benign	Het
Gm14399	T	A	2: 174,972,204 (GRCm39)	H517L	unknown	Het
Gm39115	G	T	7: 141,689,297 (GRCm39)	Q159K	unknown	Het
Gm7347	T	A	5: 26,262,306 (GRCm39)	I72F	possibly damaging	Het
Hmcn1	A	G	1: 150,559,466 (GRCm39)	V2395A	possibly damaging	Het
Ighv5-17	T	G	12: 113,822,858 (GRCm39)	T88P	probably damaging	Het
Insm2	T	A	12: 55,647,329 (GRCm39)	Y358N	probably damaging	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kcnv2	A	T	19: 27,311,084 (GRCm39)	T484S	probably damaging	Het
Kdm3b	T	C	18: 34,927,557 (GRCm39)	Y140H	probably benign	Het
Kifbp	A	C	10: 62,401,895 (GRCm39)	C261W	probably damaging	Het
Krt25	C	T	11: 99,212,098 (GRCm39)	A180T	probably benign	Het
Mmp1a	A	G	9: 7,467,294 (GRCm39)	E290G	probably damaging	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Nr3c1	T	C	18: 39,547,654 (GRCm39)	T755A	probably benign	Het
Nr3c1	A	T	18: 39,555,786 (GRCm39)	I517N	probably benign	Het
Nxpe2	A	G	9: 48,234,339 (GRCm39)		probably null	Het
Oaz1	C	A	10: 80,662,673 (GRCm39)	T27K	possibly damaging	Het
Or4p7	A	T	2: 88,222,050 (GRCm39)	H153L	probably damaging	Het
Or51f5	T	C	7: 102,424,634 (GRCm39)	I301T	probably damaging	Het
Or5t5	G	T	2: 86,617,034 (GRCm39)	C320F	probably benign	Het
Or6z3	T	A	7: 6,463,777 (GRCm39)	W90R	probably benign	Het
Or8k21	A	G	2: 86,145,369 (GRCm39)	M87T	probably benign	Het
Or8s5	A	G	15: 98,237,943 (GRCm39)	V309A	probably damaging	Het
Pafah2	A	T	4: 134,147,308 (GRCm39)	K319M	probably damaging	Het
Pask	A	T	1: 93,259,309 (GRCm39)	V236E	probably damaging	Het
Pcdh1	T	C	18: 38,322,966 (GRCm39)	T956A	probably damaging	Het
Pcdhb18	C	A	18: 37,623,700 (GRCm39)	N343K	probably damaging	Het
Pcsk2	A	T	2: 143,532,343 (GRCm39)	I164F	probably damaging	Het
Phf1	T	C	17: 27,154,289 (GRCm39)	Y169H	probably damaging	Het
Pkdrej	T	A	15: 85,705,301 (GRCm39)	I212F	probably benign	Het
Pnkp	T	A	7: 44,508,114 (GRCm39)	W146R	probably damaging	Het
Prkcb	A	T	7: 122,143,910 (GRCm39)	I325F	probably benign	Het
Ptpn21	C	T	12: 98,670,450 (GRCm39)	D239N	probably benign	Het
Ptprb	A	G	10: 116,164,070 (GRCm39)	T626A	probably damaging	Het
Pttg1	T	C	11: 43,311,916 (GRCm39)	N180D	probably benign	Het
Raly	G	A	2: 154,703,774 (GRCm39)	R115Q	probably damaging	Het
Rims2	A	T	15: 39,301,114 (GRCm39)	M474L	probably benign	Het
Sash1	A	T	10: 8,605,960 (GRCm39)	I810N	probably damaging	Het
Scnn1g	T	A	7: 121,337,304 (GRCm39)	L55*	probably null	Het
Sema6b	A	T	17: 56,432,573 (GRCm39)	D543E	possibly damaging	Het
Serpina11	C	T	12: 103,952,761 (GRCm39)	G5E	unknown	Het
Sesn3	A	T	9: 14,187,848 (GRCm39)	M1L	probably benign	Het
Sez6	T	A	11: 77,865,149 (GRCm39)	I632N	possibly damaging	Het
Sgo2b	A	T	8: 64,394,192 (GRCm39)	I49N	probably damaging	Het
Slc30a2	A	T	4: 134,071,524 (GRCm39)	I86F	possibly damaging	Het
Slc38a6	T	A	12: 73,333,786 (GRCm39)	W30R	probably benign	Het
Spata31g1	A	T	4: 42,972,379 (GRCm39)	T571S	probably benign	Het
Spata31g1	A	T	4: 42,973,252 (GRCm39)	I862F	possibly damaging	Het
Stk31	T	G	6: 49,415,393 (GRCm39)	V576G	probably benign	Het
Szt2	G	A	4: 118,233,075 (GRCm39)	T2297I	unknown	Het
Tmem208	T	C	8: 106,061,418 (GRCm39)	F148S	possibly damaging	Het
Tprg1l	A	G	4: 154,245,031 (GRCm39)	L19P	possibly damaging	Het
Tubg2	C	A	11: 101,050,897 (GRCm39)	N207K	probably damaging	Het
Ube2n	G	T	10: 95,377,612 (GRCm39)	K130N	probably benign	Het
Usp36	T	C	11: 118,164,355 (GRCm39)	Y384C	probably damaging	Het
Vcan	A	T	13: 89,840,852 (GRCm39)	L1564*	probably null	Het
Xkr6	A	T	14: 64,035,748 (GRCm39)	D283V	unknown	Het
Zfp654	T	C	16: 64,605,523 (GRCm39)	H352R	probably benign	Het
Zfp819	T	A	7: 43,266,506 (GRCm39)	C330S	probably damaging	Het
Zfp970	G	T	2: 177,167,086 (GRCm39)	C220F	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
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
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

PCR Primer
(F):5'- TGAAACCTGGTGTTGCCCAG -3'
(R):5'- GTCATCACAGACAGCAGAGG -3'

Sequencing Primer
(F):5'- TGTTGCCCAGGGTCCTG -3'
(R):5'- ACAGCAGAGGTGTCCTGGTG -3'

Posted On

2019-06-26