Incidental Mutation 'R8164:Zc3hc1'
| ID |
633667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3hc1
|
| Ensembl Gene |
ENSMUSG00000039130 |
| Gene Name |
zinc finger, C3HC type 1 |
| Synonyms |
HSPC216, 1110054L24Rik, Nipa |
| MMRRC Submission |
067590-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.546)
|
| Stock # |
R8164 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30366383-30391019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30390895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 36
(I36K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080812]
[ENSMUST00000102992]
[ENSMUST00000115184]
[ENSMUST00000136255]
[ENSMUST00000152391]
|
| AlphaFold |
Q80YV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080812
AA Change: I36K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: I36K
| 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 damaging
Transcript: ENSMUST00000102992
AA Change: I36K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: I36K
| 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 damaging
Transcript: ENSMUST00000115184
AA Change: I36K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: I36K
| 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 |
probably damaging
Transcript: ENSMUST00000136255
AA Change: I36K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152391
AA Change: I36K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: I36K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (49/50) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,767,454 (GRCm39) |
V347A |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,565,799 (GRCm39) |
I4808F |
probably damaging |
Het |
| Acaa2 |
C |
A |
18: 74,928,318 (GRCm39) |
Y182* |
probably null |
Het |
| Ankrd44 |
A |
T |
1: 54,703,138 (GRCm39) |
N644K |
probably damaging |
Het |
| Aurkaip1 |
T |
A |
4: 155,916,962 (GRCm39) |
M70K |
probably damaging |
Het |
| Brinp1 |
A |
T |
4: 68,681,158 (GRCm39) |
Y457* |
probably null |
Het |
| Brox |
A |
T |
1: 183,062,491 (GRCm39) |
C288S |
possibly damaging |
Het |
| Ccdc57 |
C |
T |
11: 120,788,788 (GRCm39) |
R353H |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,801,499 (GRCm39) |
S815T |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,989,691 (GRCm39) |
I101M |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,150,334 (GRCm39) |
T222A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,460,449 (GRCm39) |
D452E |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,837 (GRCm39) |
I2463T |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,582,794 (GRCm39) |
T326A |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gcdh |
A |
G |
8: 85,619,181 (GRCm39) |
S128P |
probably damaging |
Het |
| Golph3l |
G |
A |
3: 95,524,517 (GRCm39) |
R256Q |
probably benign |
Het |
| Igkv2-109 |
A |
G |
6: 68,279,853 (GRCm39) |
T25A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,573,849 (GRCm39) |
V868D |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,760,518 (GRCm39) |
F286L |
probably damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,199 (GRCm39) |
N219Y |
probably damaging |
Het |
| Mei4 |
A |
G |
9: 81,809,642 (GRCm39) |
K242E |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,014 (GRCm39) |
M253V |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,274,457 (GRCm39) |
V1277A |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,966,566 (GRCm39) |
W1335R |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,797 (GRCm39) |
H88L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,593,339 (GRCm39) |
V675M |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,119,243 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or1p1b |
A |
T |
11: 74,130,786 (GRCm39) |
Y132F |
probably damaging |
Het |
| P2ry12 |
C |
T |
3: 59,125,037 (GRCm39) |
V213I |
possibly damaging |
Het |
| Pcdhb21 |
C |
A |
18: 37,649,057 (GRCm39) |
P729T |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf39 |
C |
G |
17: 37,254,292 (GRCm39) |
R105G |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,711 (GRCm39) |
V382M |
possibly damaging |
Het |
| Sbno1 |
T |
C |
5: 124,512,684 (GRCm39) |
T1362A |
probably benign |
Het |
| Slc2a13 |
A |
G |
15: 91,160,281 (GRCm39) |
Y558H |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,060 (GRCm39) |
N301K |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,172,895 (GRCm39) |
T1789N |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,226,702 (GRCm39) |
A1261V |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,833,495 (GRCm39) |
Y789* |
probably null |
Het |
| Tmprss11c |
T |
A |
5: 86,379,712 (GRCm39) |
I399F |
probably damaging |
Het |
| Tnfrsf25 |
C |
T |
4: 152,201,877 (GRCm39) |
T118I |
possibly damaging |
Het |
| Trpc4 |
A |
T |
3: 54,223,226 (GRCm39) |
M721L |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,248,368 (GRCm39) |
K5R |
probably benign |
Het |
| Wdr24 |
C |
A |
17: 26,044,923 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AGGTACATCCAGAAGCTACCG -3'
(R):5'- ACTATTTTGATAGGTCAGAGGGCG -3'
Sequencing Primer
(F):5'- TACCGAAGCCGAGCAACAGAG -3'
(R):5'- TTCCTGAGCCTAAACACG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation