Incidental Mutation 'R4007:Cul4a'
| ID |
311528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul4a
|
| Ensembl Gene |
ENSMUSG00000031446 |
| Gene Name |
cullin 4A |
| Synonyms |
2810470J21Rik |
| MMRRC Submission |
041610-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R4007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13155623-13197940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13172859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 164
(N164S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016680]
[ENSMUST00000121426]
[ENSMUST00000125514]
|
| AlphaFold |
Q3TCH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016680
AA Change: N164S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
AA Change: N164S
| 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
AA Change: N164S
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112525
Gene: ENSMUSG00000031446
AA Change: N164S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141315
|
| Meta Mutation Damage Score |
0.1610 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
98% (49/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
| Aff1 |
A |
T |
5: 103,932,088 (GRCm39) |
K243N |
probably benign |
Het |
| Aknad1 |
T |
C |
3: 108,682,598 (GRCm39) |
I558T |
probably benign |
Het |
| Ampd1 |
A |
G |
3: 102,999,776 (GRCm39) |
I460V |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,150,679 (GRCm39) |
H1459L |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,243,012 (GRCm39) |
R459W |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,239,827 (GRCm39) |
I1667N |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,730,291 (GRCm39) |
S1672P |
probably damaging |
Het |
| Dhx37 |
G |
A |
5: 125,501,995 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,025,741 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
G |
A |
4: 56,794,139 (GRCm39) |
T168I |
probably damaging |
Het |
| Erbb4 |
C |
A |
1: 68,779,560 (GRCm39) |
R72L |
probably damaging |
Het |
| F11r |
A |
G |
1: 171,288,916 (GRCm39) |
K178R |
probably benign |
Het |
| Fan1 |
A |
G |
7: 64,016,309 (GRCm39) |
L605P |
probably damaging |
Het |
| Fcna |
A |
G |
2: 25,516,018 (GRCm39) |
|
probably null |
Het |
| Filip1 |
A |
G |
9: 79,726,009 (GRCm39) |
I870T |
possibly damaging |
Het |
| Gm11595 |
C |
T |
11: 99,662,861 (GRCm39) |
C273Y |
unknown |
Het |
| Gml |
T |
A |
15: 74,685,548 (GRCm39) |
I146L |
possibly damaging |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
| Ifitm6 |
T |
A |
7: 140,596,627 (GRCm39) |
I69F |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
| Kazn |
T |
C |
4: 141,834,203 (GRCm39) |
T618A |
unknown |
Het |
| Mrps5 |
C |
A |
2: 127,433,755 (GRCm39) |
T48K |
possibly damaging |
Het |
| Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Opn4 |
A |
T |
14: 34,321,789 (GRCm39) |
S43T |
probably benign |
Het |
| Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,541,274 (GRCm39) |
E1021G |
probably damaging |
Het |
| Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
| Rbsn |
T |
A |
6: 92,166,800 (GRCm39) |
T615S |
probably benign |
Het |
| Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
| Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,751,738 (GRCm39) |
I129V |
probably damaging |
Het |
| Rubcnl |
G |
T |
14: 75,287,143 (GRCm39) |
V604L |
possibly damaging |
Het |
| Slc26a4 |
T |
A |
12: 31,590,532 (GRCm39) |
K374* |
probably null |
Het |
| Slc4a4 |
T |
A |
5: 89,362,452 (GRCm39) |
S854R |
probably damaging |
Het |
| Sv2c |
A |
G |
13: 96,123,341 (GRCm39) |
|
probably benign |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,658,430 (GRCm39) |
S572G |
probably damaging |
Het |
| Trbv13-3 |
T |
C |
6: 41,107,120 (GRCm39) |
C14R |
probably benign |
Het |
| Ttc7 |
G |
A |
17: 87,597,679 (GRCm39) |
D84N |
possibly damaging |
Het |
| Ubtd1 |
G |
T |
19: 42,020,555 (GRCm39) |
G100* |
probably null |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,711 (GRCm39) |
W138R |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
| Zfp385b |
C |
T |
2: 77,549,836 (GRCm39) |
G83D |
probably benign |
Het |
| Zfp493 |
A |
G |
13: 67,932,038 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCAGGAATGATTGACACTTTG -3'
(R):5'- TGCACCCATACTGTCTCCAG -3'
Sequencing Primer
(F):5'- TGATTGACACTTTGAAGGCAGC -3'
(R):5'- CAACCACTGTTGCTGTAACTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation