Incidental Mutation 'R7814:Kazn'
ID 601347
Institutional Source Beutler Lab
Gene Symbol Kazn
Ensembl Gene ENSMUSG00000040606
Gene Name kazrin, periplakin interacting protein
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 4
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

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

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

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

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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2019-11-26