Mutagenetix > Incidental Mutation

Incidental Mutation 'R7814:Kazn'

601347

Institutional Source

Beutler Lab

Gene Symbol

Kazn

Ensembl Gene

ENSMUSG00000040606

Gene Name

kazrin, periplakin interacting protein

Synonyms

MMRRC Submission

045869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R7814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142102390-142239401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142210170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 12 (E12G)

Gene Model

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

AlphaFold

Q69ZS8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036476
AA Change: E82G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038835
Gene: ENSMUSG00000040606
AA Change: E82G

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

unknown
Transcript: ENSMUST00000155023
AA Change: E12G

SMART Domains

Protein: ENSMUSP00000116071
Gene: ENSMUSG00000040606
AA Change: E12G

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

unknown
Transcript: ENSMUST00000172864
AA Change: E12G

SMART Domains

Protein: ENSMUSP00000133972
Gene: ENSMUSG00000040606
AA Change: E12G

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

Predicted Effect

unknown
Transcript: ENSMUST00000174432
AA Change: E12G

SMART Domains

Protein: ENSMUSP00000134631
Gene: ENSMUSG00000040606
AA Change: E12G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (90/90)

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
1110065P20Rik	C	T	4: 124,850,602 (GRCm38)	G20R	not run	Het
4931409K22Rik	G	T	5: 24,545,422 (GRCm38)	Q626K	possibly damaging	Het
Adamts13	A	T	2: 26,996,549 (GRCm38)	M927L	probably benign	Het
Akap6	T	A	12: 53,140,961 (GRCm38)	N1719K	probably benign	Het
Ank3	G	A	10: 69,986,904 (GRCm38)	V468M		Het
Aox1	A	G	1: 58,085,467 (GRCm38)	T956A	probably benign	Het
Ap4m1	T	C	5: 138,174,817 (GRCm38)	V140A	probably benign	Het
Apc	A	G	18: 34,272,539 (GRCm38)	T173A	probably damaging	Het
Bclaf1	A	G	10: 20,334,619 (GRCm38)	T839A	possibly damaging	Het
Btn2a2	T	A	13: 23,482,806 (GRCm38)	I210F	possibly damaging	Het
Cadps	A	G	14: 12,376,706 (GRCm38)	W1269R	probably damaging	Het
Capn2	G	C	1: 182,492,146 (GRCm38)	P159R	probably damaging	Het
Ccdc134	T	G	15: 82,131,523 (GRCm38)	V68G	probably damaging	Het
Cdh26	A	G	2: 178,470,035 (GRCm38)	T463A	probably damaging	Het
Cfap206	C	T	4: 34,716,347 (GRCm38)	V373I	probably benign	Het
Clpx	T	C	9: 65,324,301 (GRCm38)		probably null	Het
Ctnnd2	A	T	15: 31,020,728 (GRCm38)	Y1145F	probably benign	Het
Ctr9	T	A	7: 111,033,927 (GRCm38)	D127E	probably benign	Het
Cyp2f2	G	A	7: 27,129,253 (GRCm38)	V183I	probably benign	Het
Cyp7b1	G	A	3: 18,097,302 (GRCm38)	S249L	probably benign	Het
D630023F18Rik	T	A	1: 65,116,691 (GRCm38)	D125V	possibly damaging	Het
Dbh	A	T	2: 27,174,848 (GRCm38)	Y357F	probably damaging	Het
Dbp	T	A	7: 45,706,990 (GRCm38)	L175Q	probably benign	Het
Dmwd	A	T	7: 19,080,843 (GRCm38)	T473S	probably benign	Het
Dnah9	T	A	11: 66,005,660 (GRCm38)	Q2446L	probably damaging	Het
Dnmbp	T	C	19: 43,854,176 (GRCm38)	K498R	probably benign	Het
Dopey2	T	A	16: 93,799,971 (GRCm38)	I1924N	probably damaging	Het
Dsg1a	T	A	18: 20,338,515 (GRCm38)		probably null	Het
Dzank1	T	C	2: 144,522,564 (GRCm38)	T38A	probably damaging	Het
Egfem1	A	G	3: 29,686,791 (GRCm38)	H538R	probably damaging	Het
Entpd1	T	C	19: 40,727,447 (GRCm38)	C353R	probably damaging	Het
Ephx2	C	A	14: 66,110,229 (GRCm38)	C78F	probably benign	Het
Faf2	A	T	13: 54,660,961 (GRCm38)	H388L	probably benign	Het
Fam186a	G	A	15: 99,944,664 (GRCm38)	T1233I	possibly damaging	Het
Gfra2	C	A	14: 70,895,970 (GRCm38)	A80E	probably damaging	Het
Gif	C	A	19: 11,750,187 (GRCm38)	P125Q	probably benign	Het
Gm17175	T	A	14: 51,574,035 (GRCm38)		probably benign	Het
Gm8180	T	C	14: 43,783,646 (GRCm38)	D35G	possibly damaging	Het
Gm884	T	A	11: 103,614,173 (GRCm38)	H2323L	possibly damaging	Het
Gpr68	C	T	12: 100,879,043 (GRCm38)	V81M	probably damaging	Het
Hsd3b6	A	G	3: 98,810,943 (GRCm38)	L35P	probably damaging	Het
Hspd1	A	C	1: 55,078,644 (GRCm38)	V485G	possibly damaging	Het
Il16	A	G	7: 83,670,140 (GRCm38)	V381A	possibly damaging	Het
Il17rd	G	A	14: 27,100,117 (GRCm38)	C600Y	probably benign	Het
Ins2	C	A	7: 142,679,586 (GRCm38)		probably benign	Het
Itsn2	T	C	12: 4,658,561 (GRCm38)	I872T	probably benign	Het
Jakmip3	A	T	7: 139,019,129 (GRCm38)	D219V	probably damaging	Het
Jph4	T	C	14: 55,109,735 (GRCm38)	T452A	probably damaging	Het
Kif20b	A	C	19: 34,950,955 (GRCm38)	S1206R	possibly damaging	Het
Lca5l	A	G	16: 96,162,557 (GRCm38)		probably null	Het
Lgals2	A	T	15: 78,851,333 (GRCm38)	S60R	probably benign	Het
Map10	A	G	8: 125,671,611 (GRCm38)	E581G	probably benign	Het
Map2k7	G	T	8: 4,243,744 (GRCm38)	R128L	probably benign	Het
Mapk8	G	C	14: 33,410,877 (GRCm38)	S34*	probably null	Het
Mcat	A	G	15: 83,547,909 (GRCm38)	Y253H	probably damaging	Het
Mmp2	T	C	8: 92,850,170 (GRCm38)	L607P	probably benign	Het
Ncor1	A	T	11: 62,333,926 (GRCm38)	V836E	probably damaging	Het
Neb	A	G	2: 52,137,380 (GRCm38)	S7113P	probably damaging	Het
Nphp4	G	T	4: 152,544,403 (GRCm38)	D749Y	probably damaging	Het
Nphp4	T	C	4: 152,524,272 (GRCm38)	F446L	possibly damaging	Het
Olfr115	T	A	17: 37,610,656 (GRCm38)	T32S	probably benign	Het
Olfr1185-ps1	A	G	2: 88,499,072 (GRCm38)		probably benign	Het
Olfr175-ps1	T	C	16: 58,824,002 (GRCm38)	K236E	probably damaging	Het
Olfr338	T	C	2: 36,376,809 (GRCm38)	I11T	possibly damaging	Het
Osbpl11	A	T	16: 33,210,061 (GRCm38)	R220*	probably null	Het
Plrg1	G	A	3: 83,056,837 (GRCm38)	V26M	probably damaging	Het
Polr1b	C	A	2: 129,125,544 (GRCm38)	F952L	probably damaging	Het
Ppfia3	A	C	7: 45,352,262 (GRCm38)	S560A	probably benign	Het
Ppp3cc	T	A	14: 70,225,015 (GRCm38)	N391I	possibly damaging	Het
Prdx6b	T	C	2: 80,292,960 (GRCm38)	S38P	possibly damaging	Het
Psg23	A	T	7: 18,606,914 (GRCm38)	*472R	probably null	Het
Rapgef4	A	T	2: 72,223,117 (GRCm38)	M587L	probably benign	Het
Rfx3	T	A	19: 27,826,070 (GRCm38)	M247L	probably benign	Het
Rgs7	T	A	1: 175,076,069 (GRCm38)	H463L	probably benign	Het
Riiad1	G	T	3: 94,465,855 (GRCm38)	S106R	probably benign	Het
Rims4	A	C	2: 163,918,628 (GRCm38)	I19S	probably benign	Het
Ros1	A	T	10: 52,096,137 (GRCm38)	M1648K	probably benign	Het
Rrn3	T	C	16: 13,811,589 (GRCm38)	F590L	probably benign	Het
Samd9l	T	A	6: 3,374,793 (GRCm38)	T823S	possibly damaging	Het
Sfxn1	C	A	13: 54,091,231 (GRCm38)	P115Q	possibly damaging	Het
Slc10a7	T	C	8: 78,698,573 (GRCm38)		probably null	Het
Slc25a16	A	T	10: 62,937,420 (GRCm38)	M142L	probably benign	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,290,728 (GRCm38)		probably benign	Het
Stat5a	T	G	11: 100,875,027 (GRCm38)	L313R	probably damaging	Het
Strap	A	G	6: 137,741,978 (GRCm38)	E176G	possibly damaging	Het
Tlr4	T	G	4: 66,841,079 (GRCm38)	L703R	probably damaging	Het
Trim36	A	T	18: 46,167,624 (GRCm38)	V660D	possibly damaging	Het
Tspoap1	T	A	11: 87,775,524 (GRCm38)	D980E	probably damaging	Het
Usp28	T	C	9: 49,003,918 (GRCm38)	V157A	probably benign	Het
Vmn2r17	A	T	5: 109,427,873 (GRCm38)	R203S	probably benign	Het
Vmn2r66	T	C	7: 85,007,264 (GRCm38)	I181M	probably benign	Het
Zan	T	A	5: 137,463,579 (GRCm38)	T1113S	unknown	Het
Zfp442	C	T	2: 150,409,482 (GRCm38)	D167N	possibly damaging	Het

Other mutations in Kazn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01721:Kazn	APN	4	142,159,043 (GRCm38)	critical splice donor site	probably null
IGL01959:Kazn	APN	4	142,150,884 (GRCm38)	missense	probably damaging	1.00
IGL02237:Kazn	APN	4	142,147,099 (GRCm38)	missense	probably benign	0.31
IGL02351:Kazn	APN	4	142,147,016 (GRCm38)	critical splice donor site	probably null
IGL02358:Kazn	APN	4	142,147,016 (GRCm38)	critical splice donor site	probably null
R1173:Kazn	UTSW	4	142,159,038 (GRCm38)	splice site	probably benign
R2206:Kazn	UTSW	4	142,118,292 (GRCm38)	splice site	probably null
R3406:Kazn	UTSW	4	142,239,195 (GRCm38)	start gained	probably benign
R4007:Kazn	UTSW	4	142,106,892 (GRCm38)	missense	unknown
R4050:Kazn	UTSW	4	142,106,904 (GRCm38)	missense	unknown
R4598:Kazn	UTSW	4	142,210,092 (GRCm38)	missense	possibly damaging	0.53
R4606:Kazn	UTSW	4	142,118,288 (GRCm38)	splice site	probably null
R4631:Kazn	UTSW	4	142,118,160 (GRCm38)	unclassified	probably benign
R4866:Kazn	UTSW	4	142,104,905 (GRCm38)	missense	unknown
R5050:Kazn	UTSW	4	142,118,203 (GRCm38)	unclassified	probably benign
R5052:Kazn	UTSW	4	142,118,203 (GRCm38)	unclassified	probably benign
R5054:Kazn	UTSW	4	142,108,646 (GRCm38)	missense	unknown
R5758:Kazn	UTSW	4	142,141,671 (GRCm38)	critical splice donor site	probably null
R6152:Kazn	UTSW	4	142,109,287 (GRCm38)	missense	unknown
R6284:Kazn	UTSW	4	142,117,197 (GRCm38)	missense	probably benign	0.04
R7289:Kazn	UTSW	4	142,117,175 (GRCm38)	missense
R7414:Kazn	UTSW	4	142,109,338 (GRCm38)	missense
R7663:Kazn	UTSW	4	142,104,898 (GRCm38)	missense
R8031:Kazn	UTSW	4	142,154,551 (GRCm38)	missense
R8184:Kazn	UTSW	4	142,118,130 (GRCm38)	missense	probably benign	0.04
R8315:Kazn	UTSW	4	142,141,691 (GRCm38)	missense
R8779:Kazn	UTSW	4	142,154,545 (GRCm38)	missense
R8990:Kazn	UTSW	4	142,141,636 (GRCm38)	missense	probably damaging	1.00
R9491:Kazn	UTSW	4	142,118,125 (GRCm38)	missense
Z1177:Kazn	UTSW	4	142,154,504 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- ACTCCAGGAAGCTCAGAATGG -3'
(R):5'- AACCATTGGATGCTCGGGAG -3'

Sequencing Primer
(F):5'- TGCCAACAAGCCTGTGC -3'
(R):5'- ATTGGATGCTCGGGAGTGTGG -3'

Posted On

2019-11-26