Incidental Mutation 'IGL01604:Cul4a'
| ID |
92694 |
| 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 # |
IGL01604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13155623-13197940 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 13183843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016680]
[ENSMUST00000125514]
|
| AlphaFold |
Q3TCH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000016680
|
| SMART Domains |
Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
| 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: ENSMUST00000185110
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,168,462 (GRCm39) |
I1416L |
possibly damaging |
Het |
| Abcc4 |
A |
T |
14: 118,765,406 (GRCm39) |
M992K |
possibly damaging |
Het |
| Adnp |
A |
G |
2: 168,026,258 (GRCm39) |
S346P |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
| Cblif |
A |
G |
19: 11,735,126 (GRCm39) |
T249A |
probably benign |
Het |
| Ccl12 |
A |
G |
11: 81,994,059 (GRCm39) |
*105W |
probably null |
Het |
| Chd1 |
A |
G |
17: 15,990,359 (GRCm39) |
D1637G |
possibly damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,436,038 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
T |
A |
16: 31,675,256 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,709,944 (GRCm39) |
T539A |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,854,749 (GRCm39) |
N1792D |
probably benign |
Het |
| Gm9696 |
A |
C |
3: 59,879,723 (GRCm39) |
|
noncoding transcript |
Het |
| Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,900,482 (GRCm39) |
F728I |
probably damaging |
Het |
| Megf9 |
C |
A |
4: 70,367,028 (GRCm39) |
C318F |
probably null |
Het |
| Mpi |
G |
A |
9: 57,458,025 (GRCm39) |
A59V |
possibly damaging |
Het |
| Mrps28 |
A |
G |
3: 8,965,130 (GRCm39) |
I103T |
probably damaging |
Het |
| Msantd2 |
G |
A |
9: 37,434,144 (GRCm39) |
R329H |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,474,327 (GRCm39) |
L1681F |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,332,535 (GRCm39) |
|
probably benign |
Het |
| Or4k52 |
A |
G |
2: 111,610,935 (GRCm39) |
K90R |
possibly damaging |
Het |
| Or5b119 |
G |
A |
19: 13,456,612 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,585,389 (GRCm39) |
E1596K |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,454 (GRCm39) |
E270G |
probably benign |
Het |
| Skor2 |
C |
A |
18: 76,947,646 (GRCm39) |
A456E |
possibly damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,294,221 (GRCm39) |
I220T |
possibly damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,291,362 (GRCm39) |
M361K |
probably damaging |
Het |
| Tars2 |
G |
A |
3: 95,647,590 (GRCm39) |
R608C |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,593,746 (GRCm39) |
|
probably null |
Het |
| Tex14 |
A |
G |
11: 87,400,524 (GRCm39) |
I439V |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,899,031 (GRCm39) |
I690F |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,418,244 (GRCm39) |
I1684V |
possibly damaging |
Het |
| Xdh |
T |
C |
17: 74,216,332 (GRCm39) |
I705V |
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 |
|
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 |
2013-12-09 |
Incidental Mutation