Mutagenetix > Incidental Mutation

Incidental Mutation 'R6284:Kazn'

508099

Institutional Source

Beutler Lab

Gene Symbol

Kazn

Ensembl Gene

ENSMUSG00000040606

Gene Name

kazrin, periplakin interacting protein

Synonyms

9030409G11Rik, 2310007B04Rik

MMRRC Submission

044454-MU

Accession Numbers

Essential gene?

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

Stock #

R6284 (G1)

Quality Score

162.009

Status

Validated

Chromosome

Chromosomal Location

141829701-142205056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141844508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 402 (L402F)

Gene Model

predicted gene model for transcript(s):

AlphaFold

Q69ZS8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135922

Predicted Effect

probably benign
Transcript: ENSMUST00000155023
AA Change: L402F

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116071
Gene: ENSMUSG00000040606
AA Change: L402F

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,324,437 (GRCm39)	G16C	probably damaging	Het
Abca7	G	A	10: 79,840,244 (GRCm39)	V801I	probably benign	Het
Adgrl2	A	T	3: 148,532,143 (GRCm39)	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,735,394 (GRCm39)	T423A	possibly damaging	Het
Anpep	T	A	7: 79,475,550 (GRCm39)	D111V	probably damaging	Het
Atm	T	A	9: 53,356,676 (GRCm39)		probably null	Het
Atp5f1a	T	A	18: 77,866,168 (GRCm39)	S106T	probably benign	Het
Atp5me	T	C	5: 108,581,925 (GRCm39)	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605 (GRCm39)		probably null	Het
Bclaf1	T	G	10: 20,197,906 (GRCm39)		probably null	Het
Bod1l	A	G	5: 41,976,130 (GRCm39)	V1728A	probably benign	Het
Braf	A	G	6: 39,665,216 (GRCm39)	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,232,175 (GRCm39)	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,726,850 (GRCm39)		probably null	Het
Cdh26	G	C	2: 178,091,677 (GRCm39)	G79R	probably damaging	Het
Cenpf	A	G	1: 189,384,939 (GRCm39)	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,536,253 (GRCm39)	F863L	probably damaging	Het
Clstn2	C	T	9: 97,336,727 (GRCm39)	G917S	probably benign	Het
Col6a6	A	T	9: 105,604,426 (GRCm39)		probably null	Het
Cul5	G	A	9: 53,535,035 (GRCm39)	P596L	probably damaging	Het
Dst	A	T	1: 34,268,166 (GRCm39)	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,971,384 (GRCm39)	E69G	possibly damaging	Het
Elp1	A	T	4: 56,762,281 (GRCm39)	I1106K	probably damaging	Het
Erich2	T	A	2: 70,370,028 (GRCm39)	I402N	probably damaging	Het
Fam162b	T	C	10: 51,461,598 (GRCm39)	K155R	probably damaging	Het
Fhip1a	G	A	3: 85,579,995 (GRCm39)	P737S	probably benign	Het
Glb1l2	A	T	9: 26,678,744 (GRCm39)	S466T	probably benign	Het
Kcnj13	A	T	1: 87,314,608 (GRCm39)	S205T	probably damaging	Het
Lama1	T	A	17: 68,117,091 (GRCm39)	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,563,411 (GRCm39)	C41G	unknown	Het
Lyar	T	A	5: 38,383,339 (GRCm39)	W77R	probably damaging	Het
Marchf11	G	A	15: 26,409,432 (GRCm39)	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,185,561 (GRCm39)	F869L	probably benign	Het
Myom1	T	A	17: 71,329,887 (GRCm39)	Y6*	probably null	Het
Myzap	T	C	9: 71,466,207 (GRCm39)	I150V	probably benign	Het
Nop14	C	T	5: 34,798,835 (GRCm39)		probably null	Het
Oprl1	T	A	2: 181,359,784 (GRCm39)		probably benign	Het
Pacsin1	T	C	17: 27,927,478 (GRCm39)	L432P	probably damaging	Het
Peak1	A	G	9: 56,167,580 (GRCm39)	L116P	probably benign	Het
Plcb2	C	T	2: 118,547,782 (GRCm39)	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,723,416 (GRCm39)	I269N	probably damaging	Het
Pnpla7	C	A	2: 24,906,630 (GRCm39)	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,076,178 (GRCm39)	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,211,186 (GRCm39)	T113K	probably benign	Het
Rrp7a	A	T	15: 83,006,061 (GRCm39)	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,900,847 (GRCm39)		probably null	Het
Slco1a7	T	C	6: 141,671,119 (GRCm39)	D451G	probably damaging	Het
Stxbp5	C	A	10: 9,642,931 (GRCm39)	G1056V	probably damaging	Het
Stxbp5	A	C	10: 9,642,923 (GRCm39)	S1059A	probably benign	Het
Taldo1	T	A	7: 140,978,496 (GRCm39)	S149T	possibly damaging	Het
Tlr1	T	C	5: 65,084,442 (GRCm39)	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 122,770,558 (GRCm39)	S783P	probably damaging	Het
Trap1	A	G	16: 3,878,673 (GRCm39)	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,601 (GRCm39)	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,773,028 (GRCm39)	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,387,833 (GRCm39)	Y398H	probably damaging	Het
Ube2z	A	G	11: 95,941,233 (GRCm39)	F303S	probably damaging	Het
Vmn1r211	A	G	13: 23,036,254 (GRCm39)	S138P	probably damaging	Het
Zfp1002	T	A	2: 150,097,198 (GRCm39)	Y77F	possibly damaging	Het
Zfp93	T	A	7: 23,975,054 (GRCm39)	C346*	probably null	Het
Zfp938	A	T	10: 82,063,400 (GRCm39)	S52R	possibly damaging	Het
Zp1	A	T	19: 10,893,867 (GRCm39)	L446Q	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
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

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

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

Posted On

2018-03-15