Incidental Mutation 'IGL01845:Cyld'
ID178210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyld
Ensembl Gene ENSMUSG00000036712
Gene NameCYLD lysine 63 deubiquitinase
SynonymsCYLD1, C130039D01Rik, 2900009M21Rik, 2010013M14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01845
Quality Score
Status
Chromosome8
Chromosomal Location88697028-88751945 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 88705775 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 134 (Q134*)
Ref Sequence ENSEMBL: ENSMUSP00000148037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043526] [ENSMUST00000098519] [ENSMUST00000109626] [ENSMUST00000209206] [ENSMUST00000209532] [ENSMUST00000209559] [ENSMUST00000211554]
Predicted Effect probably null
Transcript: ENSMUST00000043526
AA Change: Q134*
SMART Domains Protein: ENSMUSP00000039834
Gene: ENSMUSG00000036712
AA Change: Q134*

DomainStartEndE-ValueType
low complexity region 109 120 N/A INTRINSIC
CAP_GLY 127 203 3.2e-18 SMART
CAP_GLY 232 303 5.37e-11 SMART
low complexity region 397 411 N/A INTRINSIC
CAP_GLY 471 539 2.68e-20 SMART
Pfam:UCH 591 891 1.7e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000098519
AA Change: Q134*
SMART Domains Protein: ENSMUSP00000096119
Gene: ENSMUSG00000036712
AA Change: Q134*

DomainStartEndE-ValueType
low complexity region 109 120 N/A INTRINSIC
CAP_GLY 127 203 3.2e-18 SMART
CAP_GLY 232 303 5.37e-11 SMART
Pfam:CYLD_phos_site 307 470 6.5e-88 PFAM
CAP_GLY 471 539 2.68e-20 SMART
Pfam:UCH 590 893 2.1e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109626
AA Change: Q134*
SMART Domains Protein: ENSMUSP00000105254
Gene: ENSMUSG00000036712
AA Change: Q134*

DomainStartEndE-ValueType
low complexity region 109 120 N/A INTRINSIC
CAP_GLY 127 203 3.2e-18 SMART
CAP_GLY 232 303 5.37e-11 SMART
Pfam:CYLD_phos_site 304 467 2.5e-88 PFAM
CAP_GLY 468 536 2.68e-20 SMART
Pfam:UCH 587 890 2e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000209206
AA Change: Q134*
Predicted Effect probably null
Transcript: ENSMUST00000209532
AA Change: Q134*
Predicted Effect probably null
Transcript: ENSMUST00000209559
AA Change: Q134*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209742
Predicted Effect probably null
Transcript: ENSMUST00000211554
AA Change: Q134*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is a member of the ubiquitin C-terminal hydrolase subfamily of the deubiquitinating enzyme family. Members of this family catalyze the removal of ubiquitin from a substrate or another ubiquitin molecule and thereby play important roles in regulating signaling pathways, recycling ubiquitin and regulating protein stability. This protein removes ubiquitin from K-63-linked ubiquitin chains from proteins involved in NF-kappaB signaling and thus acts as a negative regulator of this pathway. In humans mutations in this gene have been associated with cylindromatosis, an autosomal dominant predisposition to tumors of skin appendages. In mouse deficiency of this gene impairs thymocyte development and increases susceptibility to skin and colon tumors. A pseudogene of this gene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
PHENOTYPE: Various knockout models with different exon deletions have been created. Observed phenotypes include altered T cell and B cell development, susceptibility to induced skin tumors, resistance to lethal lung infection, high colon tumor incidence, kinky tails, and neonatal death due to lung dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T C 17: 14,944,118 L169P probably damaging Het
4933405L10Rik C A 8: 105,708,935 A75E probably benign Het
Abca1 A G 4: 53,090,297 L384P probably damaging Het
Acox2 C A 14: 8,251,617 M293I probably damaging Het
Acp6 A G 3: 97,173,807 S288G probably benign Het
Arhgef12 T A 9: 43,022,841 H127L possibly damaging Het
Arid2 T G 15: 96,356,797 F175V probably damaging Het
Ccdc15 G A 9: 37,315,236 Q468* probably null Het
Ccdc93 T C 1: 121,463,130 I277T probably damaging Het
Cdh8 T C 8: 99,098,954 probably benign Het
Cdipt T C 7: 126,979,553 S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 N268S possibly damaging Het
Clcn3 A T 8: 60,913,095 N814K probably benign Het
Col6a3 T C 1: 90,796,571 D2019G probably damaging Het
Corin C A 5: 72,353,939 G432C probably damaging Het
Dhh C A 15: 98,897,983 R97L probably damaging Het
Dnah5 T C 15: 28,449,169 V4239A probably benign Het
Dock2 T C 11: 34,708,865 I296V probably benign Het
Gabbr1 T C 17: 37,048,414 probably benign Het
Gbp10 T C 5: 105,219,949 probably null Het
Ispd A G 12: 36,547,919 R350G probably benign Het
Itgam T A 7: 128,112,472 L753Q probably damaging Het
Kbtbd12 A G 6: 88,613,940 V430A probably benign Het
Kdm4a A G 4: 118,160,459 V470A possibly damaging Het
Larp1b A T 3: 40,970,525 T146S probably benign Het
Lrrfip2 T A 9: 111,199,660 probably benign Het
Mgea5 T A 19: 45,767,862 E447D probably benign Het
Mier2 A T 10: 79,549,584 C137S possibly damaging Het
Morc3 A G 16: 93,860,567 Y393C probably damaging Het
Ms4a7 A T 19: 11,322,387 M217K possibly damaging Het
Msl1 A G 11: 98,805,365 probably null Het
Myh2 A G 11: 67,193,034 E1546G probably benign Het
Nlgn2 A G 11: 69,825,849 L622P possibly damaging Het
Olfr1419 A G 19: 11,870,524 S231P probably benign Het
Olfr181 T C 16: 58,926,566 M2V probably benign Het
Olfr339 A C 2: 36,422,093 K232Q probably benign Het
Olfr393 A G 11: 73,847,472 Y218H probably damaging Het
Olfr504 T A 7: 108,565,136 I220L possibly damaging Het
Phf20 C A 2: 156,276,657 S427* probably null Het
Pirt G A 11: 66,925,968 S35N probably damaging Het
Prss28 C A 17: 25,310,037 N117K possibly damaging Het
Rbbp8nl A G 2: 180,283,311 C34R probably damaging Het
Rtn3 A T 19: 7,457,876 D231E probably damaging Het
Sema5a T C 15: 32,474,368 probably benign Het
Sh3bp2 T A 5: 34,556,003 L196Q probably damaging Het
Slc26a9 G T 1: 131,757,518 D325Y probably damaging Het
Slc4a1 A G 11: 102,353,903 V622A probably benign Het
Thbd A G 2: 148,407,096 V284A probably benign Het
Tmc5 T C 7: 118,652,510 F609L possibly damaging Het
Tnr T C 1: 159,868,006 probably benign Het
Ttc17 A T 2: 94,332,832 Y881* probably null Het
Ttc41 A T 10: 86,776,624 T1254S probably benign Het
Ttn C T 2: 76,810,003 D13754N probably damaging Het
Vmn2r16 T A 5: 109,363,896 F656L probably damaging Het
Wdr19 A G 5: 65,225,366 I478V probably damaging Het
Zan T C 5: 137,380,854 probably benign Het
Zp2 T A 7: 120,138,191 D258V probably damaging Het
Other mutations in Cyld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Cyld APN 8 88705457 missense probably benign 0.41
IGL00481:Cyld APN 8 88707290 missense probably damaging 1.00
IGL01013:Cyld APN 8 88742362 missense probably damaging 1.00
IGL01653:Cyld APN 8 88741370 missense probably damaging 1.00
IGL01700:Cyld APN 8 88707099 missense probably damaging 0.99
IGL02366:Cyld APN 8 88729753 missense probably damaging 1.00
IGL02379:Cyld APN 8 88744928 nonsense probably null
IGL02506:Cyld APN 8 88729590 missense possibly damaging 0.86
IGL02563:Cyld APN 8 88735894 missense probably damaging 1.00
IGL02565:Cyld APN 8 88741291 missense probably damaging 1.00
IGL02814:Cyld APN 8 88744897 missense probably benign 0.29
PIT4131001:Cyld UTSW 8 88746915 missense probably damaging 0.98
R0101:Cyld UTSW 8 88718300 critical splice donor site probably null
R0122:Cyld UTSW 8 88742292 missense probably damaging 1.00
R0529:Cyld UTSW 8 88729759 missense probably benign 0.34
R0838:Cyld UTSW 8 88741350 missense probably benign 0.15
R1589:Cyld UTSW 8 88709990 missense possibly damaging 0.84
R1732:Cyld UTSW 8 88731667 splice site probably benign
R2029:Cyld UTSW 8 88745312 missense probably benign 0.09
R3701:Cyld UTSW 8 88729551 missense probably benign
R3798:Cyld UTSW 8 88734930 missense probably damaging 1.00
R4243:Cyld UTSW 8 88730755 nonsense probably null
R4244:Cyld UTSW 8 88730755 nonsense probably null
R4260:Cyld UTSW 8 88741391 missense probably damaging 1.00
R4458:Cyld UTSW 8 88719301 missense probably benign 0.24
R4551:Cyld UTSW 8 88707134 missense possibly damaging 0.95
R4718:Cyld UTSW 8 88742305 missense probably damaging 0.99
R4735:Cyld UTSW 8 88729650 missense probably damaging 1.00
R4753:Cyld UTSW 8 88744816 splice site probably null
R4966:Cyld UTSW 8 88742301 missense possibly damaging 0.55
R4975:Cyld UTSW 8 88707232 missense probably benign
R5375:Cyld UTSW 8 88733036 missense possibly damaging 0.77
R5647:Cyld UTSW 8 88734926 missense probably benign 0.10
R5741:Cyld UTSW 8 88744846 missense probably damaging 1.00
R5837:Cyld UTSW 8 88741404 missense probably damaging 0.99
R5931:Cyld UTSW 8 88729842 splice site probably null
R5970:Cyld UTSW 8 88732993 missense probably damaging 0.99
R5992:Cyld UTSW 8 88733053 missense probably damaging 1.00
R6165:Cyld UTSW 8 88746933 missense possibly damaging 0.88
R7135:Cyld UTSW 8 88744892 missense possibly damaging 0.93
R7667:Cyld UTSW 8 88742302 missense probably benign 0.01
R7858:Cyld UTSW 8 88709988 missense probably damaging 0.98
R7912:Cyld UTSW 8 88734897 missense probably damaging 1.00
R7941:Cyld UTSW 8 88709988 missense probably damaging 0.98
R7993:Cyld UTSW 8 88734897 missense probably damaging 1.00
R8076:Cyld UTSW 8 88729718 missense probably benign 0.00
RF016:Cyld UTSW 8 88705441 nonsense probably null
X0010:Cyld UTSW 8 88746912 missense probably damaging 0.99
Posted On2014-05-07