Incidental Mutation 'R4866:Kazn'
ID 374900
Institutional Source Beutler Lab
Gene Symbol Kazn
Ensembl Gene ENSMUSG00000040606
Gene Name kazrin, periplakin interacting protein
Synonyms 9030409G11Rik, 2310007B04Rik
MMRRC Submission 042476-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R4866 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 141829701-142205056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141832216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 661 (F661S)
Gene Model predicted gene model for transcript(s):
AlphaFold Q69ZS8
Predicted Effect unknown
Transcript: ENSMUST00000155023
AA Change: F661S
SMART Domains Protein: ENSMUSP00000116071
Gene: ENSMUSG00000040606
AA Change: F661S

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 99% (79/80)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Abcc5 A T 16: 20,241,182 (GRCm39) M1K probably null Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adam5 A C 8: 25,232,172 (GRCm39) probably null Het
Adam5 G A 8: 25,271,619 (GRCm39) T596I probably damaging Het
Apoa2 T C 1: 171,053,369 (GRCm39) probably null Het
Atad1 A T 19: 32,679,964 (GRCm39) H79Q probably benign Het
Atp8a2 T C 14: 59,928,916 (GRCm39) D1046G probably damaging Het
Bcam A G 7: 19,499,397 (GRCm39) Y209H probably benign Het
Brpf1 G A 6: 113,299,431 (GRCm39) V1120I probably damaging Het
Catsperb G A 12: 101,474,208 (GRCm39) C302Y probably damaging Het
Cbl A G 9: 44,064,166 (GRCm39) V790A probably benign Het
Ccdc60 T C 5: 116,310,549 (GRCm39) D171G probably damaging Het
Cd300c2 A T 11: 114,891,807 (GRCm39) C22* probably null Het
Cdan1 C A 2: 120,561,928 (GRCm39) probably benign Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cfap410 T A 10: 77,817,413 (GRCm39) probably null Het
Cfap65 T C 1: 74,964,716 (GRCm39) D479G probably damaging Het
Cmbl A G 15: 31,585,490 (GRCm39) K113E probably benign Het
Cog6 G A 3: 52,918,019 (GRCm39) T173I probably benign Het
Cts6 T A 13: 61,350,090 (GRCm39) probably null Het
Cyp11a1 G A 9: 57,933,380 (GRCm39) V413M probably damaging Het
Cyp2c39 G A 19: 39,502,020 (GRCm39) M136I probably benign Het
Dclre1b A T 3: 103,715,412 (GRCm39) Y29N probably damaging Het
Depdc1a T A 3: 159,221,764 (GRCm39) I236K probably damaging Het
Dhx36 A T 3: 62,380,198 (GRCm39) Y833N probably damaging Het
Dop1b G T 16: 93,560,318 (GRCm39) probably null Het
Elovl3 A G 19: 46,120,603 (GRCm39) E32G possibly damaging Het
Entrep1 A G 19: 23,952,790 (GRCm39) S507P possibly damaging Het
Epcam T C 17: 87,951,049 (GRCm39) V212A possibly damaging Het
Fcrl2 A T 3: 87,170,773 (GRCm39) C4S possibly damaging Het
Galnt16 T C 12: 80,630,851 (GRCm39) Y310H probably damaging Het
Gm12789 G A 4: 101,846,182 (GRCm39) probably benign Het
Gspt1 C T 16: 11,040,529 (GRCm39) R593H possibly damaging Het
Hmcn2 A T 2: 31,279,403 (GRCm39) T1802S possibly damaging Het
Igha A G 12: 113,223,129 (GRCm39) V166A probably benign Het
Itfg2 A G 6: 128,393,279 (GRCm39) probably benign Het
Jund T C 8: 71,152,254 (GRCm39) V183A probably damaging Het
Katnb1 T C 8: 95,824,132 (GRCm39) S471P possibly damaging Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Lgr5 C T 10: 115,288,590 (GRCm39) V661I probably benign Het
Lvrn G T 18: 47,026,768 (GRCm39) A789S probably damaging Het
Mapk10 T C 5: 103,111,391 (GRCm39) D351G probably damaging Het
Mga T A 2: 119,794,535 (GRCm39) C2622S possibly damaging Het
Mios T G 6: 8,214,857 (GRCm39) F18V probably damaging Het
Mllt6 A G 11: 97,565,285 (GRCm39) D575G probably damaging Het
Mmp10 G A 9: 7,508,190 (GRCm39) V439M probably damaging Het
Myh4 A G 11: 67,139,453 (GRCm39) D590G probably benign Het
Ndufs2 C T 1: 171,074,618 (GRCm39) G14R probably benign Het
Or10ad1b T A 15: 98,125,371 (GRCm39) I52F probably damaging Het
Or51a7 A T 7: 102,614,927 (GRCm39) M207L probably benign Het
Or56a4 T C 7: 104,806,514 (GRCm39) Y125C possibly damaging Het
Or8g26 A G 9: 39,096,367 (GRCm39) K298E probably damaging Het
Plau G T 14: 20,887,872 (GRCm39) V39L probably benign Het
Ppp3cb A G 14: 20,573,911 (GRCm39) C275R probably damaging Het
Ppp4r4 T G 12: 103,566,706 (GRCm39) M51R possibly damaging Het
Prr5 A G 15: 84,626,105 (GRCm39) Y60C probably damaging Het
Ptprt T C 2: 161,402,159 (GRCm39) D1023G probably damaging Het
Raly T A 2: 154,703,816 (GRCm39) V129E probably damaging Het
Rsph10b A G 5: 143,885,347 (GRCm39) E249G probably benign Het
Sart1 A C 19: 5,432,248 (GRCm39) L577W probably damaging Het
Senp1 T C 15: 97,964,729 (GRCm39) E189G possibly damaging Het
Slc22a2 G T 17: 12,803,316 (GRCm39) C50F probably damaging Het
Spem1 A T 11: 69,711,755 (GRCm39) V303E probably damaging Het
Tgfb3 A G 12: 86,124,588 (GRCm39) V40A possibly damaging Het
Ttl T C 2: 128,923,147 (GRCm39) S163P probably damaging Het
Ttll9 C A 2: 152,844,920 (GRCm39) N429K probably benign Het
Uggt1 G A 1: 36,241,936 (GRCm39) R333* probably null Het
Zfhx2 A G 14: 55,302,993 (GRCm39) S1664P possibly damaging Het
Zfp51 T A 17: 21,682,012 (GRCm39) D70E possibly damaging Het
Zfp592 T A 7: 80,691,607 (GRCm39) V1262E probably damaging Het
Zfp595 C A 13: 67,465,760 (GRCm39) G168C probably damaging Het
Zswim9 A T 7: 12,995,095 (GRCm39) S354T probably damaging Het
Other mutations in Kazn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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

Sequencing Primer
Posted On 2016-03-17