Incidental Mutation 'R1600:Cul4a'
| ID |
176094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul4a
|
| Ensembl Gene |
ENSMUSG00000031446 |
| Gene Name |
cullin 4A |
| Synonyms |
2810470J21Rik |
| MMRRC Submission |
039637-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R1600 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13155623-13197940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13173954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 64
(R64G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016680]
[ENSMUST00000121426]
[ENSMUST00000125514]
|
| AlphaFold |
Q3TCH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016680
AA Change: R254G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
AA Change: R254G
| 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 |
possibly damaging
Transcript: ENSMUST00000121426
AA Change: R254G
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112525
Gene: ENSMUSG00000031446
AA Change: R254G
| 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 damaging
Transcript: ENSMUST00000125514
AA Change: R64G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123074
Gene: ENSMUSG00000031446
AA Change: R64G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cullin
|
1 |
68 |
5.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141315
|
| Meta Mutation Damage Score |
0.1996 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
85% (41/48) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,881,174 (GRCm39) |
|
probably benign |
Het |
| Acot3 |
C |
T |
12: 84,105,484 (GRCm39) |
A317V |
probably benign |
Het |
| Ahrr |
T |
C |
13: 74,362,497 (GRCm39) |
D334G |
probably benign |
Het |
| Alpk2 |
C |
T |
18: 65,511,108 (GRCm39) |
V30M |
probably damaging |
Het |
| Arhgef25 |
G |
T |
10: 127,021,158 (GRCm39) |
H281N |
probably damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,521,662 (GRCm39) |
M175T |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,484,295 (GRCm39) |
|
probably benign |
Het |
| Ccnj |
A |
T |
19: 40,833,101 (GRCm39) |
|
probably benign |
Het |
| Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,655,274 (GRCm39) |
S816P |
probably damaging |
Het |
| Cul7 |
C |
A |
17: 46,962,748 (GRCm39) |
C126* |
probably null |
Het |
| Ercc2 |
T |
C |
7: 19,119,866 (GRCm39) |
Y176H |
probably benign |
Het |
| Frem2 |
T |
G |
3: 53,455,144 (GRCm39) |
D2144A |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,384,822 (GRCm39) |
Y246* |
probably null |
Het |
| Gpatch2l |
T |
C |
12: 86,303,708 (GRCm39) |
|
probably null |
Het |
| Grk1 |
A |
G |
8: 13,455,406 (GRCm39) |
T97A |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,320,799 (GRCm39) |
E4004G |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,339,821 (GRCm39) |
R46S |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,389 (GRCm39) |
S265P |
probably damaging |
Het |
| Lyve1 |
A |
G |
7: 110,452,902 (GRCm39) |
|
probably null |
Het |
| Mme |
A |
G |
3: 63,272,479 (GRCm39) |
Y659C |
probably damaging |
Het |
| Mrs2 |
G |
T |
13: 25,179,393 (GRCm39) |
N299K |
possibly damaging |
Het |
| Mtnr1b |
T |
C |
9: 15,774,615 (GRCm39) |
Y148C |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,846,611 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,161,616 (GRCm39) |
Y2059H |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,528 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,757,080 (GRCm39) |
|
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,537 (GRCm39) |
E160G |
possibly damaging |
Het |
| Rufy2 |
A |
G |
10: 62,842,450 (GRCm39) |
T458A |
probably benign |
Het |
| Sec14l1 |
G |
A |
11: 117,041,430 (GRCm39) |
V448I |
probably benign |
Het |
| Tbx19 |
C |
T |
1: 164,970,136 (GRCm39) |
G251D |
possibly damaging |
Het |
| Tcstv7b |
T |
C |
13: 120,702,369 (GRCm39) |
V55A |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,808,958 (GRCm39) |
Q711* |
probably null |
Het |
| Trpm3 |
A |
G |
19: 22,116,519 (GRCm39) |
R13G |
probably benign |
Het |
| Usp33 |
G |
T |
3: 152,085,247 (GRCm39) |
A628S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,643,636 (GRCm39) |
N2080S |
probably benign |
Het |
| Wdr45b |
A |
T |
11: 121,221,015 (GRCm39) |
I221N |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,175,355 (GRCm39) |
W47R |
possibly damaging |
Het |
| Zswim9 |
A |
G |
7: 13,003,497 (GRCm39) |
C118R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCCAAAGTAAAGGCAGGCTTCAG -3'
(R):5'- TGGCTCCACATAGGACTCATCACTC -3'
Sequencing Primer
(F):5'- CCAGAAGTATGAGTGGACATCCC -3'
(R):5'- CTTGCTTAGACATAGGCTCAGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation