Incidental Mutation 'R5758:Kazn'
ID 445135
Institutional Source Beutler Lab
Gene Symbol Kazn
Ensembl Gene ENSMUSG00000040606
Gene Name kazrin, periplakin interacting protein
Synonyms 9030409G11Rik, 2310007B04Rik
MMRRC Submission 043203-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R5758 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 141829701-142205056 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 141868982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000036476] [ENSMUST00000129032]
AlphaFold Q69ZS8
Predicted Effect silent
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 benign
Transcript: ENSMUST00000129032
SMART Domains Protein: ENSMUSP00000115897
Gene: ENSMUSG00000040606

DomainStartEndE-ValueType
coiled coil region 7 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148812
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 silent
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 silent
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
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,264,536 (GRCm39) N2973D probably damaging Het
Acan A T 7: 78,750,962 (GRCm39) E1911V possibly damaging Het
Adamts20 T C 15: 94,292,531 (GRCm39) N193S probably benign Het
Arhgap28 T C 17: 68,180,154 (GRCm39) D81G probably benign Het
Calhm3 A G 19: 47,140,190 (GRCm39) V301A probably damaging Het
Celsr1 C T 15: 85,825,465 (GRCm39) G1556D probably benign Het
Cfap221 A G 1: 119,862,288 (GRCm39) L598P probably benign Het
Col6a6 T C 9: 105,638,717 (GRCm39) probably null Het
Dmxl2 T A 9: 54,380,248 (GRCm39) I142F probably benign Het
Dpy19l4 C T 4: 11,276,886 (GRCm39) V338M probably damaging Het
Dpys A C 15: 39,690,395 (GRCm39) D319E possibly damaging Het
Dsc3 A G 18: 20,122,591 (GRCm39) V111A probably damaging Het
Galnt5 T C 2: 57,888,442 (GRCm39) V14A probably benign Het
Hebp2 C A 10: 18,420,155 (GRCm39) V93L probably damaging Het
Igkv8-21 A T 6: 70,292,009 (GRCm39) S78T possibly damaging Het
Jak2 T A 19: 29,287,043 (GRCm39) D1036E probably damaging Het
Kif9 T C 9: 110,318,947 (GRCm39) V143A probably damaging Het
Lhcgr T C 17: 89,049,976 (GRCm39) I517V probably damaging Het
Llgl1 T C 11: 60,599,393 (GRCm39) F458S probably damaging Het
Mrgprb3 C A 7: 48,293,067 (GRCm39) M161I probably benign Het
Muc5b A T 7: 141,412,720 (GRCm39) I1889F unknown Het
Mysm1 A G 4: 94,840,598 (GRCm39) V606A probably damaging Het
Nipal3 T C 4: 135,179,874 (GRCm39) D348G probably benign Het
Olfml2b G A 1: 170,496,833 (GRCm39) probably null Het
Or5p5 T C 7: 107,414,022 (GRCm39) V77A probably damaging Het
Or5p72 T A 7: 108,022,369 (GRCm39) V197D probably benign Het
Orc5 T C 5: 22,734,256 (GRCm39) D176G possibly damaging Het
Rapgef6 A G 11: 54,559,470 (GRCm39) N1041S probably damaging Het
Ryr3 G A 2: 112,672,320 (GRCm39) R1384C probably damaging Het
Sar1a A G 10: 61,520,851 (GRCm39) Y22C probably benign Het
Shcbp1 T C 8: 4,799,355 (GRCm39) probably null Het
Smim17 C T 7: 6,427,788 (GRCm39) H25Y possibly damaging Het
Tcstv7a T C 13: 120,289,791 (GRCm39) D135G probably damaging Het
Trim10 C T 17: 37,188,044 (GRCm39) T420I possibly damaging Het
Trip13 G T 13: 74,085,614 (GRCm39) S29R probably benign Het
Tubgcp5 C T 7: 55,468,643 (GRCm39) R713C probably damaging Het
Uckl1 C A 2: 181,211,746 (GRCm39) G420C probably damaging Het
Vangl1 A T 3: 102,091,408 (GRCm39) V226D probably damaging Het
Zdhhc17 A G 10: 110,780,256 (GRCm39) *633Q probably null Het
Zfhx4 A G 3: 5,467,680 (GRCm39) K2613E probably damaging Het
Zfp236 G A 18: 82,689,834 (GRCm39) T215M probably damaging Het
Zfp563 A G 17: 33,323,894 (GRCm39) H163R probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L 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
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
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'- ATTACAGAGGTGACGACGCG -3'
(R):5'- GTGACTTACCCACAGCTACTC -3'

Sequencing Primer
(F):5'- CCATGAGGGTGAGTGCATC -3'
(R):5'- AGCTACTCTCCTCACCAGG -3'
Posted On 2016-11-21