Incidental Mutation 'IGL01688:Cul4a'
ID |
104000 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cul4a
|
Ensembl Gene |
ENSMUSG00000031446 |
Gene Name |
cullin 4A |
Synonyms |
2810470J21Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.668)
|
Stock # |
IGL01688
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
13155623-13197940 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 13196571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 742
(R742*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016680
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016680]
[ENSMUST00000125514]
|
AlphaFold |
Q3TCH7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000016680
AA Change: R742*
|
SMART Domains |
Protein: ENSMUSP00000016680 Gene: ENSMUSG00000031446 AA Change: R742*
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
39 |
N/A |
INTRINSIC |
SCOP:d1ldja2
|
61 |
401 |
1e-118 |
SMART |
Blast:CULLIN
|
83 |
151 |
5e-9 |
BLAST |
CULLIN
|
434 |
582 |
1.6e-76 |
SMART |
Blast:CULLIN
|
585 |
640 |
7e-28 |
BLAST |
Cullin_Nedd8
|
688 |
753 |
8.29e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125514
|
SMART Domains |
Protein: ENSMUSP00000123074 Gene: ENSMUSG00000031446
Domain | Start | End | E-Value | Type |
Pfam:Cullin
|
1 |
68 |
5.6e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139316
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142700
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009] PHENOTYPE: Mice homozygous for one knock-out allele exhibit reduced female fertility, male infertility, impaired spermatogenesis, and impaired DNA repair. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,000,985 (GRCm39) |
L59P |
probably damaging |
Het |
Ccin |
A |
T |
4: 43,984,985 (GRCm39) |
E464V |
possibly damaging |
Het |
Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
Col28a1 |
C |
T |
6: 7,998,517 (GRCm39) |
E1131K |
probably damaging |
Het |
Cpne2 |
A |
G |
8: 95,281,381 (GRCm39) |
T196A |
possibly damaging |
Het |
Cyp21a1 |
T |
A |
17: 35,021,194 (GRCm39) |
I370F |
probably damaging |
Het |
Ddx51 |
T |
C |
5: 110,803,513 (GRCm39) |
F332L |
probably benign |
Het |
Gm8232 |
A |
G |
14: 44,671,179 (GRCm39) |
D29G |
unknown |
Het |
Got1 |
A |
G |
19: 43,512,775 (GRCm39) |
|
probably null |
Het |
Gpat4 |
A |
G |
8: 23,671,861 (GRCm39) |
I58T |
probably benign |
Het |
Hdac3 |
T |
A |
18: 38,087,932 (GRCm39) |
D12V |
possibly damaging |
Het |
Helb |
T |
C |
10: 119,944,885 (GRCm39) |
H217R |
probably damaging |
Het |
Hpf1 |
A |
T |
8: 61,349,830 (GRCm39) |
I153L |
probably benign |
Het |
Lgsn |
G |
A |
1: 31,243,486 (GRCm39) |
D523N |
probably damaging |
Het |
Lrrc63 |
A |
G |
14: 75,322,422 (GRCm39) |
S561P |
possibly damaging |
Het |
Myh6 |
G |
A |
14: 55,201,417 (GRCm39) |
T94I |
possibly damaging |
Het |
Mzt2 |
T |
C |
16: 15,680,793 (GRCm39) |
|
probably benign |
Het |
Ndufb5 |
T |
A |
3: 32,800,613 (GRCm39) |
L62* |
probably null |
Het |
Nek1 |
A |
T |
8: 61,558,631 (GRCm39) |
R970* |
probably null |
Het |
Nepro |
T |
C |
16: 44,556,369 (GRCm39) |
L509P |
probably damaging |
Het |
Pank1 |
T |
A |
19: 34,818,252 (GRCm39) |
I96F |
probably damaging |
Het |
Parp11 |
C |
A |
6: 127,448,569 (GRCm39) |
T62K |
probably benign |
Het |
Pla2g2e |
T |
A |
4: 138,606,781 (GRCm39) |
|
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,515,115 (GRCm39) |
Y207N |
probably damaging |
Het |
Pomt2 |
T |
A |
12: 87,194,294 (GRCm39) |
I37F |
probably benign |
Het |
Prl6a1 |
T |
A |
13: 27,501,969 (GRCm39) |
V117E |
probably damaging |
Het |
Prmt3 |
T |
A |
7: 49,498,480 (GRCm39) |
|
probably null |
Het |
Rcor3 |
T |
A |
1: 191,807,900 (GRCm39) |
E20V |
probably damaging |
Het |
Rere |
A |
G |
4: 150,702,893 (GRCm39) |
D1449G |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,555,014 (GRCm39) |
V376A |
probably benign |
Het |
Rims1 |
G |
A |
1: 22,467,764 (GRCm39) |
T873I |
probably benign |
Het |
Rras2 |
T |
C |
7: 113,659,632 (GRCm39) |
D44G |
probably damaging |
Het |
Sbk2 |
C |
T |
7: 4,960,716 (GRCm39) |
|
probably benign |
Het |
Slit1 |
A |
G |
19: 41,717,545 (GRCm39) |
I73T |
probably damaging |
Het |
Spice1 |
T |
A |
16: 44,205,073 (GRCm39) |
M793K |
probably benign |
Het |
Suco |
T |
C |
1: 161,691,480 (GRCm39) |
|
probably null |
Het |
Tarbp1 |
A |
T |
8: 127,174,290 (GRCm39) |
W839R |
probably damaging |
Het |
Trpc4 |
T |
A |
3: 54,173,495 (GRCm39) |
|
probably benign |
Het |
Tubgcp5 |
T |
C |
7: 55,464,766 (GRCm39) |
V549A |
possibly damaging |
Het |
Ubap2 |
T |
A |
4: 41,226,308 (GRCm39) |
T182S |
probably benign |
Het |
Wrn |
A |
C |
8: 33,800,730 (GRCm39) |
|
probably benign |
Het |
Zc3h15 |
A |
G |
2: 83,492,536 (GRCm39) |
Y337C |
probably damaging |
Het |
Zfp292 |
T |
A |
4: 34,807,855 (GRCm39) |
I1730F |
possibly damaging |
Het |
Zfp609 |
A |
G |
9: 65,611,307 (GRCm39) |
V552A |
probably benign |
Het |
|
Other mutations in Cul4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00720:Cul4a
|
APN |
8 |
13,177,735 (GRCm39) |
missense |
probably benign |
0.18 |
IGL00952:Cul4a
|
APN |
8 |
13,196,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01604:Cul4a
|
APN |
8 |
13,183,843 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02167:Cul4a
|
APN |
8 |
13,172,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02927:Cul4a
|
APN |
8 |
13,174,861 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL03066:Cul4a
|
APN |
8 |
13,183,776 (GRCm39) |
missense |
probably benign |
0.22 |
R0183:Cul4a
|
UTSW |
8 |
13,183,790 (GRCm39) |
missense |
probably damaging |
0.98 |
R1600:Cul4a
|
UTSW |
8 |
13,173,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R1860:Cul4a
|
UTSW |
8 |
13,173,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R1865:Cul4a
|
UTSW |
8 |
13,192,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1905:Cul4a
|
UTSW |
8 |
13,183,171 (GRCm39) |
missense |
probably benign |
0.06 |
R1964:Cul4a
|
UTSW |
8 |
13,186,854 (GRCm39) |
missense |
probably benign |
0.00 |
R1964:Cul4a
|
UTSW |
8 |
13,186,406 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2381:Cul4a
|
UTSW |
8 |
13,186,887 (GRCm39) |
missense |
probably benign |
0.45 |
R3787:Cul4a
|
UTSW |
8 |
13,183,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R4006:Cul4a
|
UTSW |
8 |
13,172,859 (GRCm39) |
missense |
probably benign |
0.04 |
R4007:Cul4a
|
UTSW |
8 |
13,172,859 (GRCm39) |
missense |
probably benign |
0.04 |
R4748:Cul4a
|
UTSW |
8 |
13,173,526 (GRCm39) |
missense |
probably benign |
0.06 |
R5244:Cul4a
|
UTSW |
8 |
13,196,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R6389:Cul4a
|
UTSW |
8 |
13,190,278 (GRCm39) |
missense |
probably benign |
|
R6736:Cul4a
|
UTSW |
8 |
13,186,219 (GRCm39) |
missense |
probably benign |
0.00 |
R7201:Cul4a
|
UTSW |
8 |
13,192,991 (GRCm39) |
missense |
probably damaging |
0.98 |
R7313:Cul4a
|
UTSW |
8 |
13,171,676 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R7446:Cul4a
|
UTSW |
8 |
13,186,874 (GRCm39) |
missense |
probably benign |
|
R7485:Cul4a
|
UTSW |
8 |
13,190,279 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7569:Cul4a
|
UTSW |
8 |
13,173,493 (GRCm39) |
missense |
probably benign |
|
R8219:Cul4a
|
UTSW |
8 |
13,196,540 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8304:Cul4a
|
UTSW |
8 |
13,177,727 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9152:Cul4a
|
UTSW |
8 |
13,155,799 (GRCm39) |
missense |
probably benign |
|
R9579:Cul4a
|
UTSW |
8 |
13,186,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R9726:Cul4a
|
UTSW |
8 |
13,156,208 (GRCm39) |
missense |
probably benign |
0.00 |
X0026:Cul4a
|
UTSW |
8 |
13,155,871 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Posted On |
2014-01-21 |