Incidental Mutation 'IGL01721:Kazn'
ID105126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kazn
Ensembl Gene ENSMUSG00000040606
Gene Namekazrin, periplakin interacting protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #IGL01721
Quality Score
Status
Chromosome4
Chromosomal Location142102390-142239401 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 142159043 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000036476] [ENSMUST00000129032]
Predicted Effect probably null
Transcript: ENSMUST00000036476
SMART Domains Protein: ENSMUSP00000038835
Gene: ENSMUSG00000040606

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000129032
SMART Domains Protein: ENSMUSP00000115897
Gene: ENSMUSG00000040606

DomainStartEndE-ValueType
coiled coil region 7 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144611
Predicted Effect probably null
Transcript: ENSMUST00000155023
SMART Domains Protein: ENSMUSP00000116071
Gene: ENSMUSG00000040606

DomainStartEndE-ValueType
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: ENSMUST00000172864
SMART Domains Protein: ENSMUSP00000133972
Gene: ENSMUSG00000040606

DomainStartEndE-ValueType
coiled coil region 1 180 N/A INTRINSIC
low complexity region 299 306 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000173068
SMART Domains Protein: ENSMUSP00000134498
Gene: ENSMUSG00000040606

DomainStartEndE-ValueType
coiled coil region 1 74 N/A INTRINSIC
low complexity region 194 201 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000174432
SMART Domains Protein: ENSMUSP00000134631
Gene: ENSMUSG00000040606

DomainStartEndE-ValueType
coiled coil region 1 180 N/A INTRINSIC
low complexity region 300 307 N/A INTRINSIC
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,139,253 M51V possibly damaging Het
Acad8 A G 9: 26,992,267 probably benign Het
Atp2a2 A G 5: 122,500,792 V53A possibly damaging Het
Bicra T C 7: 15,988,699 T298A probably benign Het
Ccdc185 C T 1: 182,748,978 E49K possibly damaging Het
Cfhr2 A G 1: 139,813,614 S208P probably benign Het
Chd1 T C 17: 15,770,168 Y1661H probably damaging Het
Cntnap5a A G 1: 116,157,637 H435R probably benign Het
Cog8 A G 8: 107,054,065 V187A probably benign Het
Col24a1 A G 3: 145,538,567 H1532R probably benign Het
Dpp6 A G 5: 27,631,520 Y336C probably damaging Het
Drosha T A 15: 12,846,112 Y444* probably null Het
Egf A T 3: 129,697,722 C374* probably null Het
Eif2b3 C T 4: 117,058,804 H203Y probably damaging Het
Erbb4 A G 1: 68,254,563 V723A possibly damaging Het
Fbxo21 T C 5: 117,988,790 I202T probably benign Het
Gbp6 T C 5: 105,274,207 M544V probably benign Het
Gm10750 T C 2: 149,016,044 T96A unknown Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm8232 A T 14: 44,437,183 probably null Het
Gsdma3 T C 11: 98,637,956 V412A possibly damaging Het
Hs6st1 A T 1: 36,068,935 H93L probably damaging Het
Hsf2 G A 10: 57,496,181 E77K probably benign Het
Ing3 T A 6: 21,968,880 probably benign Het
Ints6 T C 14: 62,713,739 I280M probably damaging Het
Klhl20 T C 1: 161,095,587 Y13C probably damaging Het
Krtap26-1 G A 16: 88,647,172 P187L probably damaging Het
Mga T A 2: 119,935,239 I1329K probably damaging Het
Mindy4 A G 6: 55,223,999 D223G probably damaging Het
Ncor2 T C 5: 125,050,937 E124G probably damaging Het
Nfat5 G A 8: 107,344,979 probably null Het
Nkain1 A G 4: 130,532,134 F184L probably benign Het
Olfr1061 T C 2: 86,413,333 T240A probably damaging Het
Rars A T 11: 35,828,664 F110L probably damaging Het
Rfx6 A C 10: 51,723,077 K509N probably damaging Het
Serpinb2 T C 1: 107,515,603 L44P probably damaging Het
Sin3a G A 9: 57,095,325 R167Q probably damaging Het
Sos2 T A 12: 69,603,867 T809S probably damaging Het
Stard9 A G 2: 120,703,330 E3356G probably damaging Het
Vmn1r52 A G 6: 90,178,923 T70A probably benign Het
Other mutations in Kazn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Kazn APN 4 142150884 missense probably damaging 1.00
IGL02237:Kazn APN 4 142147099 missense probably benign 0.31
IGL02351:Kazn APN 4 142147016 critical splice donor site probably null
IGL02358:Kazn APN 4 142147016 critical splice donor site probably null
R1173:Kazn UTSW 4 142159038 splice site probably benign
R2206:Kazn UTSW 4 142118292 splice site probably null
R3406:Kazn UTSW 4 142239195 start gained probably benign
R4007:Kazn UTSW 4 142106892 missense unknown
R4050:Kazn UTSW 4 142106904 missense unknown
R4598:Kazn UTSW 4 142210092 missense possibly damaging 0.53
R4606:Kazn UTSW 4 142118288 splice site probably null
R4631:Kazn UTSW 4 142118160 unclassified probably benign
R4866:Kazn UTSW 4 142104905 missense unknown
R5050:Kazn UTSW 4 142118203 unclassified probably benign
R5052:Kazn UTSW 4 142118203 unclassified probably benign
R5054:Kazn UTSW 4 142108646 missense unknown
R5758:Kazn UTSW 4 142141671 critical splice donor site probably null
R6152:Kazn UTSW 4 142109287 missense unknown
R6284:Kazn UTSW 4 142117197 missense probably benign 0.04
R7289:Kazn UTSW 4 142117175 missense
R7414:Kazn UTSW 4 142109338 missense
R7663:Kazn UTSW 4 142104898 missense
R7814:Kazn UTSW 4 142210170 missense unknown
R8031:Kazn UTSW 4 142154551 missense
Z1177:Kazn UTSW 4 142154504 missense
Posted On2014-01-21