Incidental Mutation 'IGL01700:Cyld'
| ID |
104435 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyld
|
| Ensembl Gene |
ENSMUSG00000036712 |
| Gene Name |
CYLD lysine 63 deubiquitinase |
| Synonyms |
CYLD1, C130039D01Rik, 2900009M21Rik, 2010013M14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01700
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
89423656-89478573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89433727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 172
(R172H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043526]
[ENSMUST00000098519]
[ENSMUST00000109626]
[ENSMUST00000209206]
[ENSMUST00000209532]
[ENSMUST00000209559]
[ENSMUST00000211554]
|
| AlphaFold |
Q80TQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043526
AA Change: R172H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039834
Gene: ENSMUSG00000036712
AA Change: R172H
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000098519
AA Change: R172H
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096119
Gene: ENSMUSG00000036712
AA Change: R172H
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000109626
AA Change: R172H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105254
Gene: ENSMUSG00000036712
AA Change: R172H
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000209206
AA Change: R172H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209532
AA Change: R172H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209559
AA Change: R172H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209742
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211554
AA Change: R172H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,319,549 (GRCm39) |
M1778L |
probably benign |
Het |
| Aldh6a1 |
C |
T |
12: 84,486,312 (GRCm39) |
C202Y |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,582,198 (GRCm39) |
T276A |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,517,702 (GRCm39) |
I556T |
probably benign |
Het |
| Aqp4 |
A |
G |
18: 15,532,922 (GRCm39) |
I57T |
probably benign |
Het |
| Atp1a1 |
T |
C |
3: 101,501,574 (GRCm39) |
D43G |
possibly damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,716 (GRCm39) |
R125* |
probably null |
Het |
| Efcab9 |
T |
C |
11: 32,477,451 (GRCm39) |
R24G |
probably damaging |
Het |
| F7 |
C |
A |
8: 13,078,685 (GRCm39) |
Q39K |
probably benign |
Het |
| Galntl6 |
A |
T |
8: 58,411,494 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,233,925 (GRCm39) |
V130A |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,899,574 (GRCm39) |
I359T |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,102,238 (GRCm39) |
I843S |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,762 (GRCm39) |
M98K |
probably damaging |
Het |
| Nrip3 |
T |
A |
7: 109,361,074 (GRCm39) |
N200I |
possibly damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,810 (GRCm39) |
N40K |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,744,094 (GRCm39) |
Q581L |
probably benign |
Het |
| Plxdc2 |
T |
C |
2: 16,516,926 (GRCm39) |
V69A |
probably benign |
Het |
| Pou3f1 |
G |
T |
4: 124,552,650 (GRCm39) |
W384L |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,369,643 (GRCm39) |
S1890L |
possibly damaging |
Het |
| Psmc1 |
C |
A |
12: 100,079,337 (GRCm39) |
P27H |
probably damaging |
Het |
| Pvr |
C |
A |
7: 19,643,157 (GRCm39) |
A359S |
probably benign |
Het |
| Rasal1 |
A |
T |
5: 120,814,882 (GRCm39) |
I711F |
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,266,968 (GRCm39) |
A223V |
probably damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,479,904 (GRCm39) |
I638L |
unknown |
Het |
| Slfn10-ps |
C |
T |
11: 82,919,938 (GRCm39) |
|
noncoding transcript |
Het |
| Sptbn4 |
A |
G |
7: 27,103,693 (GRCm39) |
L1176P |
probably damaging |
Het |
| Usp21 |
A |
T |
1: 171,110,975 (GRCm39) |
F421I |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,800,573 (GRCm39) |
P416S |
probably damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,614,202 (GRCm39) |
R37S |
possibly damaging |
Het |
| Vps13a |
G |
A |
19: 16,722,221 (GRCm39) |
R364* |
probably null |
Het |
| Vps29 |
A |
G |
5: 122,500,930 (GRCm39) |
Y165C |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,742,195 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,044,802 (GRCm39) |
D219G |
probably damaging |
Het |
| Xpo1 |
T |
C |
11: 23,226,422 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
C |
A |
2: 174,486,711 (GRCm39) |
T462K |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,843,658 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cyld |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Cyld
|
APN |
8 |
89,432,085 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL00481:Cyld
|
APN |
8 |
89,433,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Cyld
|
APN |
8 |
89,468,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01653:Cyld
|
APN |
8 |
89,467,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Cyld
|
APN |
8 |
89,432,403 (GRCm39) |
nonsense |
probably null |
|
|
IGL02366:Cyld
|
APN |
8 |
89,456,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Cyld
|
APN |
8 |
89,471,556 (GRCm39) |
nonsense |
probably null |
|
|
IGL02506:Cyld
|
APN |
8 |
89,456,218 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02563:Cyld
|
APN |
8 |
89,462,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02565:Cyld
|
APN |
8 |
89,467,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Cyld
|
APN |
8 |
89,471,525 (GRCm39) |
missense |
probably benign |
0.29 |
|
PIT4131001:Cyld
|
UTSW |
8 |
89,473,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0101:Cyld
|
UTSW |
8 |
89,444,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0122:Cyld
|
UTSW |
8 |
89,468,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0529:Cyld
|
UTSW |
8 |
89,456,387 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0838:Cyld
|
UTSW |
8 |
89,467,978 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1589:Cyld
|
UTSW |
8 |
89,436,618 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1732:Cyld
|
UTSW |
8 |
89,458,295 (GRCm39) |
splice site |
probably benign |
|
|
R2029:Cyld
|
UTSW |
8 |
89,471,940 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3701:Cyld
|
UTSW |
8 |
89,456,179 (GRCm39) |
missense |
probably benign |
|
|
R3798:Cyld
|
UTSW |
8 |
89,461,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4243:Cyld
|
UTSW |
8 |
89,457,383 (GRCm39) |
nonsense |
probably null |
|
|
R4244:Cyld
|
UTSW |
8 |
89,457,383 (GRCm39) |
nonsense |
probably null |
|
|
R4260:Cyld
|
UTSW |
8 |
89,468,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4458:Cyld
|
UTSW |
8 |
89,445,929 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4551:Cyld
|
UTSW |
8 |
89,433,762 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4718:Cyld
|
UTSW |
8 |
89,468,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4735:Cyld
|
UTSW |
8 |
89,456,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4753:Cyld
|
UTSW |
8 |
89,471,444 (GRCm39) |
splice site |
probably null |
|
|
R4966:Cyld
|
UTSW |
8 |
89,468,929 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4975:Cyld
|
UTSW |
8 |
89,433,860 (GRCm39) |
missense |
probably benign |
|
|
R5375:Cyld
|
UTSW |
8 |
89,459,664 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5647:Cyld
|
UTSW |
8 |
89,461,554 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5741:Cyld
|
UTSW |
8 |
89,471,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Cyld
|
UTSW |
8 |
89,468,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5931:Cyld
|
UTSW |
8 |
89,456,470 (GRCm39) |
splice site |
probably null |
|
|
R5970:Cyld
|
UTSW |
8 |
89,459,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5992:Cyld
|
UTSW |
8 |
89,459,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6165:Cyld
|
UTSW |
8 |
89,473,561 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7135:Cyld
|
UTSW |
8 |
89,471,520 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7667:Cyld
|
UTSW |
8 |
89,468,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7858:Cyld
|
UTSW |
8 |
89,436,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7912:Cyld
|
UTSW |
8 |
89,461,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8076:Cyld
|
UTSW |
8 |
89,456,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8276:Cyld
|
UTSW |
8 |
89,461,556 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8282:Cyld
|
UTSW |
8 |
89,432,043 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8348:Cyld
|
UTSW |
8 |
89,456,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8448:Cyld
|
UTSW |
8 |
89,456,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8540:Cyld
|
UTSW |
8 |
89,473,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Cyld
|
UTSW |
8 |
89,456,138 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8710:Cyld
|
UTSW |
8 |
89,436,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Cyld
|
UTSW |
8 |
89,432,410 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9329:Cyld
|
UTSW |
8 |
89,457,348 (GRCm39) |
missense |
probably benign |
0.22 |
|
RF016:Cyld
|
UTSW |
8 |
89,432,069 (GRCm39) |
nonsense |
probably null |
|
|
X0010:Cyld
|
UTSW |
8 |
89,473,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation