Incidental Mutation 'IGL02567:Zc3hc1'
| ID |
298884 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zc3hc1
|
| Ensembl Gene |
ENSMUSG00000039130 |
| Gene Name |
zinc finger, C3HC type 1 |
| Synonyms |
HSPC216, 1110054L24Rik, Nipa |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.521)
|
| Stock # |
IGL02567
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
30366383-30391019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30374848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 231
(D231G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080812]
[ENSMUST00000102992]
[ENSMUST00000115184]
[ENSMUST00000136255]
[ENSMUST00000152391]
|
| AlphaFold |
Q80YV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080812
AA Change: D231G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: D231G
| 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 |
noncoding transcript
Transcript: ENSMUST00000083728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102992
AA Change: D231G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: D231G
| 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: D231G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: D231G
| 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: ENSMUST00000126945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138983
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152391
AA Change: D231G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: D231G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147990
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
C |
A |
11: 53,263,578 (GRCm39) |
S199R |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,165,362 (GRCm39) |
L621P |
probably damaging |
Het |
| Calcr |
C |
T |
6: 3,691,564 (GRCm39) |
V404M |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,736,339 (GRCm39) |
S635G |
possibly damaging |
Het |
| Ccl12 |
C |
A |
11: 81,993,447 (GRCm39) |
S28R |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,088,900 (GRCm39) |
N761D |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,208,357 (GRCm39) |
|
probably null |
Het |
| Col28a1 |
T |
C |
6: 8,014,819 (GRCm39) |
K862R |
possibly damaging |
Het |
| Cyp2c66 |
C |
T |
19: 39,175,084 (GRCm39) |
|
probably benign |
Het |
| D5Ertd615e |
T |
C |
5: 45,320,758 (GRCm39) |
|
noncoding transcript |
Het |
| Deup1 |
T |
C |
9: 15,486,579 (GRCm39) |
E367G |
probably damaging |
Het |
| Dpp8 |
T |
G |
9: 64,986,058 (GRCm39) |
Y849* |
probably null |
Het |
| Efhc1 |
T |
A |
1: 21,043,188 (GRCm39) |
V369E |
probably damaging |
Het |
| Entrep2 |
T |
A |
7: 64,436,479 (GRCm39) |
M101L |
possibly damaging |
Het |
| Epg5 |
A |
G |
18: 78,076,288 (GRCm39) |
Y2562C |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,728,059 (GRCm39) |
|
probably null |
Het |
| Frem1 |
A |
T |
4: 82,918,292 (GRCm39) |
M551K |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,567,281 (GRCm39) |
S889G |
probably benign |
Het |
| Golph3 |
C |
T |
15: 12,349,507 (GRCm39) |
R176* |
probably null |
Het |
| Got2 |
A |
T |
8: 96,598,829 (GRCm39) |
F191Y |
probably benign |
Het |
| Gtf2ird2 |
G |
T |
5: 134,241,890 (GRCm39) |
|
probably benign |
Het |
| H4c16 |
G |
A |
6: 136,781,272 (GRCm39) |
R36W |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,991,153 (GRCm39) |
T2218A |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,746,611 (GRCm39) |
G227D |
probably benign |
Het |
| Ifi202b |
C |
T |
1: 173,791,370 (GRCm39) |
S436N |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,969 (GRCm39) |
V2109D |
probably damaging |
Het |
| Opa1 |
C |
A |
16: 29,407,104 (GRCm39) |
D29E |
probably benign |
Het |
| Papln |
C |
T |
12: 83,825,611 (GRCm39) |
P631S |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,200,570 (GRCm39) |
M352K |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,173,112 (GRCm39) |
T129A |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,079,965 (GRCm39) |
H424Q |
probably damaging |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,621,473 (GRCm39) |
D642G |
probably damaging |
Het |
| Rnf111 |
T |
C |
9: 70,366,287 (GRCm39) |
T384A |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,633,555 (GRCm39) |
T393A |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,202,069 (GRCm39) |
K619M |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syt9 |
A |
G |
7: 107,035,868 (GRCm39) |
Y295C |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,926,323 (GRCm39) |
Y306N |
probably damaging |
Het |
| Tmem107 |
T |
G |
11: 68,961,845 (GRCm39) |
L25V |
possibly damaging |
Het |
| Wdr24 |
T |
G |
17: 26,043,322 (GRCm39) |
I48S |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,617,309 (GRCm39) |
K341E |
possibly damaging |
Het |
| Zfp142 |
T |
A |
1: 74,617,306 (GRCm39) |
S342C |
possibly damaging |
Het |
| Zfp142 |
T |
G |
1: 74,617,308 (GRCm39) |
K341T |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,989 (GRCm39) |
I989L |
probably benign |
Het |
| Zfyve9 |
A |
C |
4: 108,531,720 (GRCm39) |
V1095G |
probably damaging |
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 |
|
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 |
|
R1690:Zc3hc1
|
UTSW |
6 |
30,390,940 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation