Incidental Mutation 'R9579:Cul4a'
| ID |
722458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul4a
|
| Ensembl Gene |
ENSMUSG00000031446 |
| Gene Name |
cullin 4A |
| Synonyms |
2810470J21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R9579 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13155623-13197940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13186147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 450
(E450K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016680]
[ENSMUST00000125514]
|
| AlphaFold |
Q3TCH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016680
AA Change: E450K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
AA Change: E450K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
A |
11: 46,009,262 (GRCm39) |
H229N |
probably benign |
Het |
| Ak9 |
C |
A |
10: 41,213,576 (GRCm39) |
H260Q |
|
Het |
| Akap3 |
G |
A |
6: 126,850,974 (GRCm39) |
V831I |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,853,843 (GRCm39) |
F119S |
probably benign |
Het |
| Best3 |
A |
G |
10: 116,829,100 (GRCm39) |
T127A |
probably damaging |
Het |
| Ccdc7a |
G |
A |
8: 129,774,134 (GRCm39) |
Q134* |
probably null |
Het |
| Ceacam5 |
C |
A |
7: 17,479,561 (GRCm39) |
S226Y |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Cyb5a |
A |
T |
18: 84,891,273 (GRCm39) |
R89S |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,368,041 (GRCm39) |
L1766P |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,270,947 (GRCm39) |
E228G |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,349,612 (GRCm39) |
I522T |
probably benign |
Het |
| Gm5225 |
A |
C |
17: 24,242,897 (GRCm39) |
H22P |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,758,500 (GRCm39) |
C796S |
probably damaging |
Het |
| Hmgxb4 |
G |
T |
8: 75,756,638 (GRCm39) |
A588S |
probably damaging |
Het |
| Lats2 |
G |
A |
14: 57,937,191 (GRCm39) |
P433S |
probably damaging |
Het |
| Lrfn1 |
C |
T |
7: 28,166,769 (GRCm39) |
T721I |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,012,379 (GRCm39) |
S23T |
probably benign |
Het |
| Mpzl3 |
G |
A |
9: 44,973,350 (GRCm39) |
V30I |
probably benign |
Het |
| Or2r3 |
A |
T |
6: 42,448,574 (GRCm39) |
C179* |
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,457,117 (GRCm39) |
Y1298C |
possibly damaging |
Het |
| Plcd4 |
C |
A |
1: 74,596,948 (GRCm39) |
H397N |
probably benign |
Het |
| Pnn |
G |
A |
12: 59,117,030 (GRCm39) |
A201T |
possibly damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| Rabl3 |
T |
C |
16: 37,362,230 (GRCm39) |
V23A |
probably damaging |
Het |
| Rnf157 |
T |
C |
11: 116,240,822 (GRCm39) |
N423S |
probably benign |
Het |
| Rtn1 |
T |
C |
12: 72,270,289 (GRCm39) |
D601G |
probably damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,557,946 (GRCm39) |
Y511H |
probably damaging |
Het |
| Sema5b |
T |
C |
16: 35,467,582 (GRCm39) |
M282T |
probably benign |
Het |
| Slco5a1 |
G |
T |
1: 12,949,383 (GRCm39) |
S669* |
probably null |
Het |
| Sphkap |
C |
G |
1: 83,255,295 (GRCm39) |
G818A |
probably damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,942,107 (GRCm39) |
S12G |
probably damaging |
Het |
| Tmem150a |
C |
A |
6: 72,334,070 (GRCm39) |
Q51K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,550,196 (GRCm39) |
D31662N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,578,602 (GRCm39) |
G24097D |
probably damaging |
Het |
| Tubb4b |
T |
C |
2: 25,114,139 (GRCm39) |
T55A |
probably benign |
Het |
| Vcan |
A |
T |
13: 89,837,713 (GRCm39) |
D2610E |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,785 (GRCm39) |
T586A |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,805,108 (GRCm39) |
F336S |
|
Het |
| Zic1 |
A |
G |
9: 91,246,790 (GRCm39) |
F94S |
probably damaging |
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 |
|
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 |
|
|
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'- TTCATCCATGGTGAGGAAGGAG -3'
(R):5'- GTTTGCTGGTAAACGCAGCTC -3'
Sequencing Primer
(F):5'- TGAGGAAGGAGGGGCTGTG -3'
(R):5'- CACTCTGCGTATGTGAAGGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation