Incidental Mutation 'IGL01824:Gins4'
| ID |
154616 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gins4
|
| Ensembl Gene |
ENSMUSG00000031546 |
| Gene Name |
GINS complex subunit 4 |
| Synonyms |
2810037C03Rik, SLD5, 4933405K01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
23716632-23727675 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 23724784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 57
(Q57*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033950]
|
| AlphaFold |
Q99LZ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033950
AA Change: Q57*
|
| SMART Domains |
Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546
AA Change: Q57*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sld5
|
20 |
127 |
5.3e-9 |
PFAM |
|
Pfam:SLD5_C
|
165 |
223 |
4.1e-21 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant animals do not survive past implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
G |
A |
7: 83,800,497 (GRCm39) |
R186C |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,690,886 (GRCm39) |
V1196A |
probably benign |
Het |
| Asah1 |
A |
T |
8: 41,802,580 (GRCm39) |
|
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,656,494 (GRCm39) |
W400R |
probably damaging |
Het |
| Cyp27a1 |
G |
T |
1: 74,775,040 (GRCm39) |
E290* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,543,429 (GRCm39) |
D2247G |
probably benign |
Het |
| Gli1 |
T |
C |
10: 127,172,396 (GRCm39) |
D219G |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,761,717 (GRCm39) |
C554* |
probably null |
Het |
| Gtf2ird2 |
T |
C |
5: 134,226,123 (GRCm39) |
|
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,020 (GRCm39) |
R155G |
probably benign |
Het |
| Lck |
T |
A |
4: 129,451,939 (GRCm39) |
M14L |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,336,691 (GRCm39) |
D322G |
probably damaging |
Het |
| Or4b1b |
T |
A |
2: 90,112,263 (GRCm39) |
I219F |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,709,223 (GRCm39) |
D697E |
probably damaging |
Het |
| Pnp |
C |
T |
14: 51,188,870 (GRCm39) |
T221I |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,905,753 (GRCm39) |
I1514T |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,365,516 (GRCm39) |
M523V |
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,592,110 (GRCm39) |
Y246H |
possibly damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,198,763 (GRCm39) |
I301F |
probably benign |
Het |
| Srebf1 |
A |
G |
11: 60,094,957 (GRCm39) |
S446P |
probably benign |
Het |
| Sys1 |
T |
G |
2: 164,305,225 (GRCm39) |
L56R |
probably damaging |
Het |
| Trpc7 |
G |
T |
13: 56,937,535 (GRCm39) |
Y585* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,794,929 (GRCm39) |
Y580F |
probably benign |
Het |
| Zmym6 |
G |
T |
4: 127,002,499 (GRCm39) |
V485F |
probably damaging |
Het |
|
| Other mutations in Gins4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01376:Gins4
|
APN |
8 |
23,717,343 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02304:Gins4
|
APN |
8 |
23,722,625 (GRCm39) |
missense |
probably benign |
|
|
IGL03194:Gins4
|
APN |
8 |
23,724,762 (GRCm39) |
splice site |
probably benign |
|
|
R0058:Gins4
|
UTSW |
8 |
23,719,526 (GRCm39) |
splice site |
probably benign |
|
|
R0058:Gins4
|
UTSW |
8 |
23,719,526 (GRCm39) |
splice site |
probably benign |
|
|
R0267:Gins4
|
UTSW |
8 |
23,719,426 (GRCm39) |
splice site |
probably benign |
|
|
R1428:Gins4
|
UTSW |
8 |
23,717,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Gins4
|
UTSW |
8 |
23,724,792 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4691:Gins4
|
UTSW |
8 |
23,727,075 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4933:Gins4
|
UTSW |
8 |
23,724,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5088:Gins4
|
UTSW |
8 |
23,727,084 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8098:Gins4
|
UTSW |
8 |
23,727,037 (GRCm39) |
missense |
probably benign |
|
|
R9679:Gins4
|
UTSW |
8 |
23,717,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Gins4
|
UTSW |
8 |
23,717,183 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
RF016:Gins4
|
UTSW |
8 |
23,722,626 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation