Incidental Mutation 'IGL00720:Cul4a'
| ID |
9954 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cul4a
|
| Ensembl Gene |
ENSMUSG00000031446 |
| Gene Name |
cullin 4A |
| Synonyms |
2810470J21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
IGL00720
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13155623-13197940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13177735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 292
(K292E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016680]
[ENSMUST00000121426]
[ENSMUST00000125514]
|
| AlphaFold |
Q3TCH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016680
AA Change: K292E
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
AA Change: K292E
| 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: ENSMUST00000121426
|
| SMART Domains |
Protein: ENSMUSP00000112525
Gene: ENSMUSG00000031446
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
39 |
N/A |
INTRINSIC |
|
Pfam:Cullin
|
63 |
259 |
3.1e-40 |
PFAM |
|
| 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 |
|
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Fat2 |
T |
C |
11: 55,202,070 (GRCm39) |
T335A |
probably benign |
Het |
| Hrh2 |
T |
C |
13: 54,368,840 (GRCm39) |
V272A |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,136,681 (GRCm39) |
I663V |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,864,644 (GRCm39) |
V22A |
probably damaging |
Het |
| Nat8f1 |
A |
G |
6: 85,887,957 (GRCm39) |
M1T |
probably null |
Het |
| Scn7a |
A |
T |
2: 66,506,388 (GRCm39) |
S1500R |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,547,419 (GRCm39) |
S23R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,456 (GRCm39) |
N1517D |
probably damaging |
Het |
| Zfp663 |
A |
T |
2: 165,194,525 (GRCm39) |
F565I |
probably damaging |
Het |
| Zng1 |
T |
C |
19: 24,898,495 (GRCm39) |
D321G |
probably benign |
Het |
| Zscan26 |
C |
T |
13: 21,629,369 (GRCm39) |
R378H |
probably benign |
Het |
|
| Other mutations in Cul4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL01688:Cul4a
|
APN |
8 |
13,196,571 (GRCm39) |
nonsense |
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 |
2012-12-06 |
Incidental Mutation