Incidental Mutation 'R5443:Zer1'
| ID |
427255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
043008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R5443 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30001008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 138
(G138S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044751]
[ENSMUST00000113677]
|
| AlphaFold |
Q80ZJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044751
AA Change: G138S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: G138S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
405 |
774 |
3e-15 |
SMART |
|
Blast:ARM
|
440 |
480 |
2e-18 |
BLAST |
|
Blast:ARM
|
524 |
569 |
4e-24 |
BLAST |
|
Blast:ARM
|
571 |
613 |
6e-22 |
BLAST |
|
Blast:ARM
|
617 |
656 |
7e-8 |
BLAST |
|
Blast:ARM
|
686 |
724 |
6e-18 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113677
AA Change: G138S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: G138S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
392 |
761 |
3e-15 |
SMART |
|
Blast:ARM
|
427 |
467 |
2e-18 |
BLAST |
|
Blast:ARM
|
511 |
556 |
4e-24 |
BLAST |
|
Blast:ARM
|
558 |
600 |
2e-21 |
BLAST |
|
Blast:ARM
|
604 |
643 |
7e-8 |
BLAST |
|
Blast:ARM
|
673 |
711 |
6e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154231
|
| Meta Mutation Damage Score |
0.2168 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.9%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
A |
T |
10: 4,305,576 (GRCm39) |
E795D |
probably damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,484,745 (GRCm39) |
|
probably null |
Het |
| Aox4 |
A |
G |
1: 58,273,151 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
G |
A |
15: 76,682,125 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,509,325 (GRCm39) |
E272G |
possibly damaging |
Het |
| C1qc |
G |
A |
4: 136,619,804 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
C |
A |
16: 8,482,203 (GRCm39) |
R26L |
probably benign |
Het |
| Cdh12 |
G |
T |
15: 21,237,935 (GRCm39) |
V57L |
probably benign |
Het |
| Cfap298 |
G |
T |
16: 90,724,099 (GRCm39) |
Q168K |
probably benign |
Het |
| Clec3a |
A |
G |
8: 115,144,893 (GRCm39) |
Y23C |
probably benign |
Het |
| Crebrf |
G |
C |
17: 26,961,328 (GRCm39) |
V150L |
probably damaging |
Het |
| Ddx41 |
G |
T |
13: 55,683,104 (GRCm39) |
A201E |
probably benign |
Het |
| Doc2b |
T |
C |
11: 75,670,921 (GRCm39) |
K237E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,620 (GRCm39) |
S5199P |
probably damaging |
Het |
| Efnb2 |
A |
G |
8: 8,670,862 (GRCm39) |
I129T |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,070,712 (GRCm39) |
E2329G |
possibly damaging |
Het |
| Esrrg |
A |
C |
1: 187,775,622 (GRCm39) |
T27P |
possibly damaging |
Het |
| Fah |
T |
A |
7: 84,241,604 (GRCm39) |
R316W |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,064,519 (GRCm39) |
L4825P |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,381,648 (GRCm39) |
V804A |
probably damaging |
Het |
| Gm1322 |
G |
A |
2: 67,015,012 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5114 |
T |
A |
7: 39,058,289 (GRCm39) |
K443N |
probably benign |
Het |
| Gnai2 |
T |
C |
9: 107,497,386 (GRCm39) |
I3V |
probably damaging |
Het |
| Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
| Klf15 |
C |
A |
6: 90,444,342 (GRCm39) |
Q306K |
possibly damaging |
Het |
| Ly6a2 |
A |
T |
15: 75,005,568 (GRCm39) |
|
noncoding transcript |
Het |
| Maco1 |
A |
T |
4: 134,560,619 (GRCm39) |
C121* |
probably null |
Het |
| Necab2 |
A |
T |
8: 120,195,032 (GRCm39) |
M295L |
probably benign |
Het |
| Nrg1 |
A |
T |
8: 32,339,348 (GRCm39) |
Y208N |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,849,256 (GRCm39) |
Y232* |
probably null |
Het |
| Oacyl |
A |
G |
18: 65,883,253 (GRCm39) |
R611G |
probably benign |
Het |
| Oasl1 |
T |
C |
5: 115,074,129 (GRCm39) |
|
probably null |
Het |
| Or2n1e |
T |
A |
17: 38,585,905 (GRCm39) |
M81K |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,262 (GRCm39) |
G266C |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,583 (GRCm39) |
Y52H |
probably benign |
Het |
| Or8k25 |
A |
C |
2: 86,243,937 (GRCm39) |
I153R |
possibly damaging |
Het |
| Pate4 |
A |
C |
9: 35,519,170 (GRCm39) |
S66A |
possibly damaging |
Het |
| Pigl |
T |
A |
11: 62,349,309 (GRCm39) |
C8* |
probably null |
Het |
| Plg |
G |
A |
17: 12,601,070 (GRCm39) |
A51T |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppig |
A |
T |
2: 69,564,635 (GRCm39) |
D97V |
probably damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,578,846 (GRCm39) |
K517E |
possibly damaging |
Het |
| Prr16 |
A |
T |
18: 51,436,225 (GRCm39) |
S235C |
probably damaging |
Het |
| Psmd1 |
G |
A |
1: 86,017,905 (GRCm39) |
R572H |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,135 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
A |
T |
2: 151,924,043 (GRCm39) |
Y25F |
probably benign |
Het |
| Sema6d |
A |
T |
2: 124,498,756 (GRCm39) |
H222L |
probably damaging |
Het |
| Septin2 |
A |
G |
1: 93,425,174 (GRCm39) |
N110S |
possibly damaging |
Het |
| Shpk |
G |
A |
11: 73,113,607 (GRCm39) |
G340D |
possibly damaging |
Het |
| Smg5 |
T |
A |
3: 88,261,896 (GRCm39) |
L723H |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Spo11 |
T |
C |
2: 172,831,152 (GRCm39) |
|
probably benign |
Het |
| Srarp |
T |
A |
4: 141,163,388 (GRCm39) |
|
probably null |
Het |
| Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,363,607 (GRCm39) |
Y109F |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,809,209 (GRCm39) |
M699K |
possibly damaging |
Het |
| Trim34a |
T |
C |
7: 103,909,420 (GRCm39) |
F289S |
possibly damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,645 (GRCm39) |
H371R |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,348,532 (GRCm39) |
I11N |
possibly damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,108 (GRCm39) |
F677L |
probably benign |
Het |
| Zfp612 |
A |
G |
8: 110,816,227 (GRCm39) |
K439R |
possibly damaging |
Het |
|
| Other mutations in Zer1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Zer1
|
APN |
2 |
29,998,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01630:Zer1
|
APN |
2 |
29,991,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02126:Zer1
|
APN |
2 |
29,994,928 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02338:Zer1
|
APN |
2 |
30,003,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02817:Zer1
|
APN |
2 |
29,993,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4402001:Zer1
|
UTSW |
2 |
29,991,132 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4495001:Zer1
|
UTSW |
2 |
29,993,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0390:Zer1
|
UTSW |
2 |
29,998,225 (GRCm39) |
splice site |
probably benign |
|
|
R0506:Zer1
|
UTSW |
2 |
29,991,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Zer1
|
UTSW |
2 |
29,994,809 (GRCm39) |
splice site |
probably benign |
|
|
R0928:Zer1
|
UTSW |
2 |
29,991,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1167:Zer1
|
UTSW |
2 |
29,998,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1819:Zer1
|
UTSW |
2 |
30,000,230 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2040:Zer1
|
UTSW |
2 |
29,998,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Zer1
|
UTSW |
2 |
29,998,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Zer1
|
UTSW |
2 |
29,998,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2092:Zer1
|
UTSW |
2 |
29,998,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Zer1
|
UTSW |
2 |
29,994,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2243:Zer1
|
UTSW |
2 |
29,991,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2254:Zer1
|
UTSW |
2 |
29,998,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Zer1
|
UTSW |
2 |
29,998,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2311:Zer1
|
UTSW |
2 |
29,991,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2993:Zer1
|
UTSW |
2 |
29,991,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3010:Zer1
|
UTSW |
2 |
30,003,297 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3731:Zer1
|
UTSW |
2 |
30,000,923 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4038:Zer1
|
UTSW |
2 |
29,997,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5241:Zer1
|
UTSW |
2 |
29,994,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5433:Zer1
|
UTSW |
2 |
29,990,998 (GRCm39) |
intron |
probably benign |
|
|
R5524:Zer1
|
UTSW |
2 |
29,994,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Zer1
|
UTSW |
2 |
29,997,679 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5999:Zer1
|
UTSW |
2 |
29,995,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6598:Zer1
|
UTSW |
2 |
30,003,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Zer1
|
UTSW |
2 |
29,991,059 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7030:Zer1
|
UTSW |
2 |
30,001,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7190:Zer1
|
UTSW |
2 |
29,993,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7218:Zer1
|
UTSW |
2 |
29,995,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7252:Zer1
|
UTSW |
2 |
29,991,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7383:Zer1
|
UTSW |
2 |
30,001,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Zer1
|
UTSW |
2 |
29,992,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Zer1
|
UTSW |
2 |
30,003,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Zer1
|
UTSW |
2 |
30,003,449 (GRCm39) |
start gained |
probably benign |
|
|
R7466:Zer1
|
UTSW |
2 |
29,991,496 (GRCm39) |
splice site |
probably null |
|
|
R7477:Zer1
|
UTSW |
2 |
29,997,988 (GRCm39) |
missense |
probably null |
0.34 |
|
R7719:Zer1
|
UTSW |
2 |
30,001,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7813:Zer1
|
UTSW |
2 |
30,000,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Zer1
|
UTSW |
2 |
29,997,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8239:Zer1
|
UTSW |
2 |
29,991,147 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8350:Zer1
|
UTSW |
2 |
29,991,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8404:Zer1
|
UTSW |
2 |
29,995,035 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8842:Zer1
|
UTSW |
2 |
30,001,062 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8896:Zer1
|
UTSW |
2 |
29,993,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8906:Zer1
|
UTSW |
2 |
30,001,035 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8929:Zer1
|
UTSW |
2 |
30,000,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9050:Zer1
|
UTSW |
2 |
30,001,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Zer1
|
UTSW |
2 |
30,000,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Zer1
|
UTSW |
2 |
30,001,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9322:Zer1
|
UTSW |
2 |
30,000,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9577:Zer1
|
UTSW |
2 |
29,991,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Zer1
|
UTSW |
2 |
29,997,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Zer1
|
UTSW |
2 |
29,994,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGTCTGGATGCCTGAGAG -3'
(R):5'- TTCGCAAACAGGTGAGACC -3'
Sequencing Primer
(F):5'- CTGGATGCCTGAGAGGTCCAAG -3'
(R):5'- AACAGGTGAGACCCTGCC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation