Incidental Mutation 'R0101:Cyld'
| ID |
33203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyld
|
| Ensembl Gene |
ENSMUSG00000036712 |
| Gene Name |
CYLD lysine 63 deubiquitinase |
| Synonyms |
CYLD1, C130039D01Rik, 2900009M21Rik, 2010013M14Rik |
| MMRRC Submission |
038387-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0101 (G1)
|
| Quality Score |
187 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
89423656-89478573 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 89444928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043526]
[ENSMUST00000098519]
[ENSMUST00000098519]
[ENSMUST00000109626]
[ENSMUST00000209206]
[ENSMUST00000209532]
[ENSMUST00000209532]
[ENSMUST00000209559]
[ENSMUST00000211554]
|
| AlphaFold |
Q80TQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043526
|
| SMART Domains |
Protein: ENSMUSP00000039834
Gene: ENSMUSG00000036712
| 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 null
Transcript: ENSMUST00000098519
|
| SMART Domains |
Protein: ENSMUSP00000096119
Gene: ENSMUSG00000036712
| 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 null
Transcript: ENSMUST00000098519
|
| SMART Domains |
Protein: ENSMUSP00000096119
Gene: ENSMUSG00000036712
| 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 benign
Transcript: ENSMUST00000109626
|
| SMART Domains |
Protein: ENSMUSP00000105254
Gene: ENSMUSG00000036712
| 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 benign
Transcript: ENSMUST00000209206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209266
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209532
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209742
|
| Meta Mutation Damage Score |
0.9481 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,901,739 (GRCm39) |
D829N |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,483,139 (GRCm39) |
Y41H |
probably benign |
Het |
| Carmil3 |
A |
C |
14: 55,735,212 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,771,341 (GRCm39) |
Q41R |
probably benign |
Het |
| Cep43 |
A |
T |
17: 8,388,374 (GRCm39) |
S76C |
possibly damaging |
Het |
| Chrm2 |
G |
T |
6: 36,501,430 (GRCm39) |
C429F |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,250,444 (GRCm39) |
C1844S |
probably benign |
Het |
| Cyp2d11 |
C |
A |
15: 82,274,395 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,005,856 (GRCm39) |
Y2308H |
probably damaging |
Het |
| Dnajc27 |
T |
C |
12: 4,139,142 (GRCm39) |
V60A |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,862,599 (GRCm39) |
V850A |
possibly damaging |
Het |
| Emcn |
A |
T |
3: 137,047,001 (GRCm39) |
M1L |
possibly damaging |
Het |
| Epc1 |
A |
T |
18: 6,462,998 (GRCm39) |
|
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,133,521 (GRCm39) |
L310P |
probably damaging |
Het |
| Filip1 |
A |
G |
9: 79,726,810 (GRCm39) |
I603T |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,512,957 (GRCm39) |
V723A |
probably damaging |
Het |
| Gemin5 |
G |
A |
11: 58,036,322 (GRCm39) |
P674S |
probably damaging |
Het |
| Gsk3a |
T |
C |
7: 24,928,328 (GRCm39) |
D471G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,658 (GRCm39) |
P262L |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,651,768 (GRCm39) |
L300S |
probably damaging |
Het |
| Itsn2 |
T |
C |
12: 4,683,058 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,072,598 (GRCm39) |
S150P |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,951,120 (GRCm39) |
M1V |
probably null |
Het |
| Mical2 |
C |
T |
7: 111,936,074 (GRCm39) |
R892C |
possibly damaging |
Het |
| Mtus2 |
T |
C |
5: 148,019,845 (GRCm39) |
S747P |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,861,206 (GRCm39) |
K1276E |
possibly damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,138 (GRCm39) |
S241P |
probably damaging |
Het |
| Pfkfb4 |
C |
G |
9: 108,839,711 (GRCm39) |
P260R |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,948,626 (GRCm39) |
L121Q |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,681 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,864,615 (GRCm39) |
M215T |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,070,769 (GRCm39) |
D213G |
possibly damaging |
Het |
| Rreb1 |
C |
A |
13: 38,115,518 (GRCm39) |
P959Q |
probably benign |
Het |
| Sema5b |
T |
C |
16: 35,483,472 (GRCm39) |
|
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,041,903 (GRCm39) |
M1T |
probably null |
Het |
| Slco1c1 |
G |
T |
6: 141,477,236 (GRCm39) |
L11F |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,194 (GRCm39) |
T393A |
probably damaging |
Het |
| Srp54b |
A |
G |
12: 55,302,405 (GRCm39) |
|
probably benign |
Het |
| St14 |
G |
T |
9: 31,008,403 (GRCm39) |
N512K |
probably benign |
Het |
| Syce1l |
T |
A |
8: 114,382,061 (GRCm39) |
S237T |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tamm41 |
A |
T |
6: 115,009,207 (GRCm39) |
Y129N |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,753,357 (GRCm39) |
|
noncoding transcript |
Het |
| Tpr |
T |
C |
1: 150,285,053 (GRCm39) |
|
probably benign |
Het |
| Vsig10 |
T |
A |
5: 117,473,134 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
T |
C |
2: 164,741,910 (GRCm39) |
K635R |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,811,968 (GRCm39) |
Y207C |
probably damaging |
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 |
|
IGL01700:Cyld
|
APN |
8 |
89,433,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCATTTCTCCAGTGACAAAGAGT -3'
(R):5'- CAGAAAGCCAGAGACGCACAATAGTA -3'
Sequencing Primer
(F):5'- CCTGAATGGTAATGTCATAAAGGCAC -3'
(R):5'- taaGAAAGCAACCTAAGTTTCATTCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation