Incidental Mutation 'R1690:Zc3hc1'
| ID |
191710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3hc1
|
| Ensembl Gene |
ENSMUSG00000039130 |
| Gene Name |
zinc finger, C3HC type 1 |
| Synonyms |
HSPC216, 1110054L24Rik, Nipa |
| MMRRC Submission |
039723-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.546)
|
| Stock # |
R1690 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
30366383-30391019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30390940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 21
(V21A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080812]
[ENSMUST00000102992]
[ENSMUST00000115184]
[ENSMUST00000136255]
[ENSMUST00000152391]
|
| AlphaFold |
Q80YV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080812
AA Change: V21A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: V21A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C3HC
|
72 |
201 |
2e-38 |
PFAM |
|
low complexity region
|
216 |
231 |
N/A |
INTRINSIC |
|
Pfam:Rsm1
|
248 |
343 |
6.8e-14 |
PFAM |
|
low complexity region
|
406 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102992
AA Change: V21A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: V21A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C3HC
|
72 |
201 |
2.4e-37 |
PFAM |
|
low complexity region
|
216 |
231 |
N/A |
INTRINSIC |
|
Pfam:Rsm1
|
248 |
343 |
2.2e-13 |
PFAM |
|
low complexity region
|
406 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115184
AA Change: V21A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: V21A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C3HC
|
72 |
201 |
5.9e-38 |
PFAM |
|
low complexity region
|
216 |
231 |
N/A |
INTRINSIC |
|
Pfam:Rsm1
|
248 |
339 |
8.6e-14 |
PFAM |
|
Pfam:Rsm1
|
331 |
394 |
4.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129796
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136255
AA Change: V21A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147990
AA Change: V16A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152391
AA Change: V21A
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: V21A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C3HC
|
72 |
201 |
9e-38 |
PFAM |
|
low complexity region
|
216 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a null mutation display partial lethality with male infertility, reduced female fertility, arrest of meiosis, impaired synaptonemal complex formation and delayed double strand DNA break repair. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, other(2) Gene trapped(10) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,610,950 (GRCm39) |
S263P |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,347,494 (GRCm39) |
E403G |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,615,993 (GRCm39) |
V11E |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,206 (GRCm39) |
C620R |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,739,505 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
G |
10: 92,871,304 (GRCm39) |
S639P |
possibly damaging |
Het |
| Csf2rb |
T |
C |
15: 78,232,844 (GRCm39) |
V717A |
probably benign |
Het |
| D17H6S53E |
A |
G |
17: 35,346,188 (GRCm39) |
D33G |
possibly damaging |
Het |
| Dpf2 |
C |
T |
19: 5,955,490 (GRCm39) |
R131Q |
probably damaging |
Het |
| Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgf15 |
A |
G |
7: 144,453,665 (GRCm39) |
S213G |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,355,827 (GRCm39) |
F756Y |
unknown |
Het |
| Hnrnpk |
T |
A |
13: 58,548,168 (GRCm39) |
T13S |
probably benign |
Het |
| Htr3b |
T |
A |
9: 48,848,394 (GRCm39) |
M284L |
possibly damaging |
Het |
| Itgal |
T |
C |
7: 126,901,289 (GRCm39) |
M225T |
possibly damaging |
Het |
| Lipi |
A |
G |
16: 75,338,013 (GRCm39) |
Y454H |
probably damaging |
Het |
| Lrit3 |
T |
C |
3: 129,594,394 (GRCm39) |
K61R |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,320,554 (GRCm39) |
D583G |
probably benign |
Het |
| Mettl17 |
T |
A |
14: 52,128,918 (GRCm39) |
V396D |
probably damaging |
Het |
| Nlrc4 |
G |
A |
17: 74,744,518 (GRCm39) |
R788* |
probably null |
Het |
| Or8k25 |
T |
A |
2: 86,244,298 (GRCm39) |
I33F |
probably benign |
Het |
| Pepd |
G |
A |
7: 34,730,782 (GRCm39) |
G278D |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,693 (GRCm39) |
E250G |
probably benign |
Het |
| Prkcsh |
T |
A |
9: 21,921,871 (GRCm39) |
D245E |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,317,676 (GRCm39) |
D84V |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,411,462 (GRCm39) |
T333I |
probably benign |
Het |
| Ptk2 |
T |
A |
15: 73,134,459 (GRCm39) |
I547F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,732 (GRCm39) |
S162T |
probably damaging |
Het |
| Rnf41 |
C |
A |
10: 128,271,329 (GRCm39) |
Q80K |
possibly damaging |
Het |
| Scn7a |
T |
G |
2: 66,506,287 (GRCm39) |
D1534A |
probably damaging |
Het |
| Septin12 |
A |
G |
16: 4,806,378 (GRCm39) |
V261A |
probably damaging |
Het |
| Sh2d4a |
T |
C |
8: 68,747,101 (GRCm39) |
S110P |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,272,144 (GRCm39) |
S114T |
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,952,813 (GRCm39) |
Y139C |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,777,354 (GRCm39) |
|
probably null |
Het |
| Tmem202 |
T |
A |
9: 59,426,391 (GRCm39) |
R258S |
possibly damaging |
Het |
| Ttc39b |
A |
T |
4: 83,145,414 (GRCm39) |
I604N |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,932,294 (GRCm39) |
D467G |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,120,706 (GRCm39) |
I294F |
possibly damaging |
Het |
| Zfp825 |
T |
A |
13: 74,628,781 (GRCm39) |
H227L |
probably benign |
Het |
|
| Other mutations in Zc3hc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01571:Zc3hc1
|
APN |
6 |
30,390,862 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01843:Zc3hc1
|
APN |
6 |
30,372,729 (GRCm39) |
splice site |
probably benign |
|
|
IGL02358:Zc3hc1
|
APN |
6 |
30,376,057 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02379:Zc3hc1
|
APN |
6 |
30,390,974 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02567:Zc3hc1
|
APN |
6 |
30,374,848 (GRCm39) |
missense |
probably benign |
|
|
F6893:Zc3hc1
|
UTSW |
6 |
30,387,525 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0376:Zc3hc1
|
UTSW |
6 |
30,372,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Zc3hc1
|
UTSW |
6 |
30,374,929 (GRCm39) |
splice site |
probably benign |
|
|
R1521:Zc3hc1
|
UTSW |
6 |
30,376,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1861:Zc3hc1
|
UTSW |
6 |
30,374,837 (GRCm39) |
missense |
probably benign |
|
|
R3085:Zc3hc1
|
UTSW |
6 |
30,374,763 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4619:Zc3hc1
|
UTSW |
6 |
30,387,523 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4721:Zc3hc1
|
UTSW |
6 |
30,374,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4847:Zc3hc1
|
UTSW |
6 |
30,375,981 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5000:Zc3hc1
|
UTSW |
6 |
30,375,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5870:Zc3hc1
|
UTSW |
6 |
30,382,682 (GRCm39) |
nonsense |
probably null |
|
|
R7195:Zc3hc1
|
UTSW |
6 |
30,382,547 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7922:Zc3hc1
|
UTSW |
6 |
30,390,874 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8164:Zc3hc1
|
UTSW |
6 |
30,390,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8415:Zc3hc1
|
UTSW |
6 |
30,375,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8926:Zc3hc1
|
UTSW |
6 |
30,374,887 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGATACGGAATCAGGTACATCCAG -3'
(R):5'- CACTATTTTGATAGGTCAGAGGGCGG -3'
Sequencing Primer
(F):5'- AAGGCCAGCCTTCTTCAGAG -3'
(R):5'- CGGAGCTTAACTCAGAACGTAAATTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation