Mutagenetix > Incidental Mutation

Incidental Mutation 'R4598:Kazn'

345344

Institutional Source

Beutler Lab

Gene Symbol

Kazn

Ensembl Gene

ENSMUSG00000040606

Gene Name

kazrin, periplakin interacting protein

Synonyms

9030409G11Rik, 2310007B04Rik

MMRRC Submission

041814-MU

Accession Numbers

Essential gene?

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

Stock #

R4598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141829701-142205056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141937403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000038835 (fasta)

Gene Model

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

AlphaFold

Q69ZS8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036476
AA Change: V108A

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038835
Gene: ENSMUSG00000040606
AA Change: V108A

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
AA Change: V6A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115897
Gene: ENSMUSG00000040606
AA Change: V6A

Domain	Start	End	E-Value	Type
coiled coil region	7	148	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000155023
AA Change: V38A

SMART Domains

Protein: ENSMUSP00000116071
Gene: ENSMUSG00000040606
AA Change: V38A

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: V38A

SMART Domains

Protein: ENSMUSP00000133972
Gene: ENSMUSG00000040606
AA Change: V38A

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: V38A

SMART Domains

Protein: ENSMUSP00000134631
Gene: ENSMUSG00000040606
AA Change: V38A

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,818,188 (GRCm39)		probably null	Het
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Abcb7	A	C	X: 103,366,988 (GRCm39)	D135E	probably benign	Het
Ace	T	A	11: 105,872,585 (GRCm39)		probably null	Het
Acnat1	T	C	4: 49,450,781 (GRCm39)	D110G	probably benign	Het
Ak9	C	T	10: 41,259,907 (GRCm39)	P862S	probably damaging	Het
Atp1a3	A	G	7: 24,678,766 (GRCm39)	S972P	probably damaging	Het
Bmf	C	A	2: 118,379,609 (GRCm39)	A56S	probably benign	Het
C6	T	C	15: 4,792,852 (GRCm39)	L319P	possibly damaging	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cdc14b	T	C	13: 64,395,088 (GRCm39)	T69A	probably benign	Het
Cep162	A	G	9: 87,085,848 (GRCm39)	Y1159H	possibly damaging	Het
Chrna7	A	G	7: 62,753,538 (GRCm39)	M327T	probably damaging	Het
Clca3a2	A	T	3: 144,511,444 (GRCm39)	N41K	probably damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Cyp3a57	A	G	5: 145,327,227 (GRCm39)	I473V	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Eif4e3	T	A	6: 99,617,671 (GRCm39)	I67L	probably benign	Het
Epor	A	G	9: 21,873,155 (GRCm39)	S86P	probably benign	Het
Esp31	T	A	17: 38,952,012 (GRCm39)		probably null	Het
Esrp2	A	G	8: 106,859,343 (GRCm39)	M498T	probably damaging	Het
F5	T	C	1: 164,032,366 (GRCm39)	I1771T	probably benign	Het
Fancd2	C	A	6: 113,562,438 (GRCm39)	H1259Q	probably benign	Het
Gale	C	A	4: 135,695,148 (GRCm39)	S341*	probably null	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Kat2b	A	G	17: 53,977,826 (GRCm39)	Y791C	probably benign	Het
Kcnma1	T	C	14: 23,853,228 (GRCm39)	T109A	probably damaging	Het
Med13	T	C	11: 86,169,392 (GRCm39)	T1955A	probably damaging	Het
Megf10	A	T	18: 57,420,884 (GRCm39)	S841C	probably damaging	Het
Megf10	G	A	18: 57,322,675 (GRCm39)		probably null	Het
Mep1a	A	G	17: 43,802,469 (GRCm39)		probably null	Het
Mrap2	A	T	9: 87,064,842 (GRCm39)	E194D	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Ndc80	T	C	17: 71,828,063 (GRCm39)	D88G	probably damaging	Het
Nrip1	A	G	16: 76,089,968 (GRCm39)	F530L	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	C	7: 104,685,280 (GRCm39)	I292L	probably benign	Het
Or6c216	T	C	10: 129,678,864 (GRCm39)	T16A	possibly damaging	Het
Or9i16	A	T	19: 13,865,381 (GRCm39)	H64Q	probably damaging	Het
Oxtr	C	T	6: 112,466,713 (GRCm39)	G16R	probably benign	Het
Pdgfrb	A	T	18: 61,201,829 (GRCm39)	K464N	probably benign	Het
Pja2	A	T	17: 64,620,025 (GRCm39)	M1K	probably null	Het
Pkhd1	A	T	1: 20,573,280 (GRCm39)	N1875K	probably damaging	Het
Pogz	T	C	3: 94,787,491 (GRCm39)	S1360P	possibly damaging	Het
Proc	A	T	18: 32,256,512 (GRCm39)	L385Q	probably damaging	Het
Ptprm	A	G	17: 67,402,492 (GRCm39)	I132T	probably benign	Het
Rpgr	A	G	X: 10,062,255 (GRCm39)	S343P	probably benign	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Scyl1	A	G	19: 5,820,481 (GRCm39)	S118P	probably damaging	Het
Sec61a1	T	C	6: 88,483,131 (GRCm39)	N414D	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sema7a	A	G	9: 57,860,834 (GRCm39)	D65G	probably benign	Het
Slc25a45	A	G	19: 5,934,464 (GRCm39)	Y144C	probably damaging	Het
Slc26a6	A	G	9: 108,733,579 (GRCm39)	Y103C	probably damaging	Het
Stat3	C	T	11: 100,794,500 (GRCm39)	D270N	probably damaging	Het
Taar8b	T	C	10: 23,967,736 (GRCm39)	S153G	probably benign	Het
Top1	A	G	2: 160,562,885 (GRCm39)	E697G	possibly damaging	Het
Trappc11	G	A	8: 47,966,801 (GRCm39)	T470I	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Usp29	A	G	7: 6,965,479 (GRCm39)	T441A	probably benign	Het
Vmn2r110	A	T	17: 20,804,029 (GRCm39)	L182*	probably null	Het
Zgrf1	T	C	3: 127,394,679 (GRCm39)	I1345T	probably benign	Het
Zscan25	G	T	5: 145,227,815 (GRCm39)	R493L	probably benign	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
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

PCR Primer
(F):5'- TGAAACCCTGCAAGTACGACTG -3'
(R):5'- TCCTGTGTGCTCAGCTTATAG -3'

Sequencing Primer
(F):5'- AAGTACGACTGACACCCTGGG -3'
(R):5'- CTGTGTGCTCAGCTTATAGGAGAAAC -3'

Posted On

2015-09-25