Incidental Mutation 'R9726:Cul4a'
| ID |
731042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul4a
|
| Ensembl Gene |
ENSMUSG00000031446 |
| Gene Name |
cullin 4A |
| Synonyms |
2810470J21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R9726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13155623-13197940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13156208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 55
(P55S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016680]
[ENSMUST00000121426]
[ENSMUST00000164416]
[ENSMUST00000168164]
[ENSMUST00000172443]
|
| AlphaFold |
Q3TCH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016680
AA Change: P55S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
AA Change: P55S
| 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: P55S
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112525
Gene: ENSMUSG00000031446
AA Change: P55S
| 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: ENSMUST00000164416
|
| SMART Domains |
Protein: ENSMUSP00000133204
Gene: ENSMUSG00000038542
| Domain | Start | End | E-Value | Type |
|---|
|
PAM
|
144 |
312 |
4.29e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168164
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172443
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
C |
6: 72,325,650 (GRCm39) |
V122A |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,998,919 (GRCm39) |
Y226C |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,053,757 (GRCm39) |
K1574R |
probably benign |
Het |
| Apob |
T |
C |
12: 8,056,926 (GRCm39) |
Y1803H |
probably damaging |
Het |
| Atosb |
T |
C |
4: 43,034,991 (GRCm39) |
D302G |
probably damaging |
Het |
| Bex6 |
A |
T |
16: 32,005,243 (GRCm39) |
D17V |
probably damaging |
Het |
| Cd72 |
T |
G |
4: 43,452,641 (GRCm39) |
|
probably null |
Het |
| Cdcp2 |
C |
A |
4: 106,959,936 (GRCm39) |
S117Y |
probably damaging |
Het |
| Cenpx |
A |
G |
11: 120,603,328 (GRCm39) |
L22P |
unknown |
Het |
| Cep135 |
A |
G |
5: 76,741,151 (GRCm39) |
T76A |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,195,395 (GRCm39) |
Q272L |
probably benign |
Het |
| Cyp2f2 |
C |
T |
7: 26,821,411 (GRCm39) |
T108I |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,898,948 (GRCm39) |
V806A |
probably benign |
Het |
| Dgki |
T |
C |
6: 37,276,858 (GRCm39) |
H9R |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,322,996 (GRCm39) |
S1289T |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,154,374 (GRCm39) |
V1691D |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,835,149 (GRCm39) |
L1280R |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,077,999 (GRCm39) |
S2901F |
possibly damaging |
Het |
| Fkbp8 |
A |
G |
8: 70,987,529 (GRCm39) |
K380E |
probably damaging |
Het |
| Ggta1 |
T |
C |
2: 35,292,422 (GRCm39) |
Y295C |
probably damaging |
Het |
| Gm7145 |
A |
G |
1: 117,913,706 (GRCm39) |
N196S |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Ighv11-1 |
T |
A |
12: 113,945,623 (GRCm39) |
I77L |
probably benign |
Het |
| Kcnmb3 |
A |
G |
3: 32,536,512 (GRCm39) |
V72A |
possibly damaging |
Het |
| Kel |
C |
T |
6: 41,678,971 (GRCm39) |
G164D |
probably damaging |
Het |
| Krba1 |
C |
A |
6: 48,389,298 (GRCm39) |
T606N |
possibly damaging |
Het |
| Lig3 |
T |
C |
11: 82,674,420 (GRCm39) |
L82P |
possibly damaging |
Het |
| Limd1 |
T |
C |
9: 123,308,984 (GRCm39) |
S228P |
probably benign |
Het |
| Mlf2 |
C |
T |
6: 124,911,621 (GRCm39) |
R157W |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,719 (GRCm39) |
S27G |
probably benign |
Het |
| Oprm1 |
T |
A |
10: 6,929,694 (GRCm39) |
C345S |
probably benign |
Het |
| Or4c108 |
T |
A |
2: 88,804,221 (GRCm39) |
T5S |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,920 (GRCm39) |
I82V |
possibly damaging |
Het |
| Oscp1 |
C |
A |
4: 125,970,626 (GRCm39) |
D138E |
probably benign |
Het |
| Panx3 |
T |
A |
9: 37,572,992 (GRCm39) |
Y186F |
probably damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,473,391 (GRCm39) |
Y343H |
probably damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,382,349 (GRCm39) |
T214A |
probably damaging |
Het |
| Rims1 |
C |
A |
1: 22,669,493 (GRCm39) |
W105L |
probably null |
Het |
| Serpina3f |
C |
T |
12: 104,184,698 (GRCm39) |
P281S |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,458,418 (GRCm39) |
K20R |
probably benign |
Het |
| Sigirr |
A |
G |
7: 140,672,123 (GRCm39) |
L274P |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,491,410 (GRCm39) |
V49A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,118,605 (GRCm39) |
S4802G |
unknown |
Het |
| Sstr1 |
G |
A |
12: 58,259,484 (GRCm39) |
D36N |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,790,095 (GRCm39) |
D557V |
probably benign |
Het |
| Topaz1 |
GCAGGGGGATGAGAAGGTA |
G |
9: 122,603,934 (GRCm39) |
|
probably benign |
Het |
| Topaz1 |
CAGGGGGATGAGAAGGTAAAG |
CAG |
9: 122,603,935 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
T |
15: 27,912,752 (GRCm39) |
Q101K |
unknown |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,783 (GRCm39) |
I241F |
probably damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 725,476 (GRCm39) |
F763S |
possibly 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 |
|
|
R9579:Cul4a
|
UTSW |
8 |
13,186,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Cul4a
|
UTSW |
8 |
13,155,871 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAACTTCCGAGGTGGGTG -3'
(R):5'- GGCGATCCATAGAAACACCTG -3'
Sequencing Primer
(F):5'- TCCGGTGAGGAGCGAAC -3'
(R):5'- TGCTGACCCAGGGTTTCG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation