Incidental Mutation 'IGL02126:Zer1'
| ID |
280865 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
IGL02126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 29994928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 489
(T489K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044751]
[ENSMUST00000113677]
|
| AlphaFold |
Q80ZJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044751
AA Change: T502K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: T502K
| 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 benign
Transcript: ENSMUST00000113677
AA Change: T489K
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: T489K
| 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: ENSMUST00000152068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154231
|
| 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 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Angptl3 |
T |
C |
4: 98,919,738 (GRCm39) |
|
probably null |
Het |
| Atoh1 |
T |
C |
6: 64,706,334 (GRCm39) |
W10R |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Ccm2 |
A |
G |
11: 6,544,154 (GRCm39) |
T317A |
probably damaging |
Het |
| Ccnt1 |
A |
T |
15: 98,465,484 (GRCm39) |
W12R |
probably damaging |
Het |
| Celf1 |
T |
A |
2: 90,831,408 (GRCm39) |
L79H |
probably damaging |
Het |
| Cmip |
T |
C |
8: 118,175,770 (GRCm39) |
V423A |
probably damaging |
Het |
| Ddr1 |
T |
A |
17: 35,999,481 (GRCm39) |
I431F |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,080,149 (GRCm39) |
L2343P |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,176,817 (GRCm39) |
D1446G |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,419,599 (GRCm39) |
H231R |
possibly damaging |
Het |
| Fam221b |
T |
A |
4: 43,666,450 (GRCm39) |
I54F |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,839,281 (GRCm39) |
V365M |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,394,839 (GRCm39) |
F69L |
possibly damaging |
Het |
| Gba2 |
T |
G |
4: 43,567,918 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
C |
A |
19: 46,240,556 (GRCm39) |
P46Q |
probably damaging |
Het |
| Gimap6 |
T |
G |
6: 48,679,635 (GRCm39) |
S134R |
probably damaging |
Het |
| Gm5424 |
A |
C |
10: 61,907,377 (GRCm39) |
|
noncoding transcript |
Het |
| Hexb |
T |
C |
13: 97,314,532 (GRCm39) |
K404E |
possibly damaging |
Het |
| Hs3st3a1 |
G |
A |
11: 64,327,331 (GRCm39) |
V147M |
probably damaging |
Het |
| Hsd17b4 |
T |
C |
18: 50,315,063 (GRCm39) |
V610A |
probably benign |
Het |
| Loxl3 |
T |
A |
6: 83,025,628 (GRCm39) |
W329R |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,273,575 (GRCm39) |
F247S |
probably damaging |
Het |
| Naa38 |
C |
T |
11: 69,287,045 (GRCm39) |
R42W |
probably damaging |
Het |
| Nadsyn1 |
G |
A |
7: 143,357,753 (GRCm39) |
Q485* |
probably null |
Het |
| Nid1 |
A |
G |
13: 13,663,743 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
T |
C |
13: 40,362,251 (GRCm39) |
T224A |
probably benign |
Het |
| Or5m11b |
T |
G |
2: 85,806,517 (GRCm39) |
I310S |
probably benign |
Het |
| Palld |
A |
G |
8: 62,330,476 (GRCm39) |
Y134H |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pfn3 |
T |
C |
13: 55,562,699 (GRCm39) |
D94G |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,187,419 (GRCm39) |
R3630C |
probably damaging |
Het |
| Por |
T |
A |
5: 135,744,829 (GRCm39) |
F31I |
probably benign |
Het |
| Ppp1r12c |
T |
C |
7: 4,492,858 (GRCm39) |
E127G |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 5,156,229 (GRCm39) |
S1162T |
probably damaging |
Het |
| Psen2 |
C |
A |
1: 180,057,488 (GRCm39) |
A297S |
probably benign |
Het |
| Rpusd2 |
G |
A |
2: 118,869,119 (GRCm39) |
R514Q |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,462,029 (GRCm39) |
M235V |
probably damaging |
Het |
| Sash1 |
T |
C |
10: 8,615,229 (GRCm39) |
M644V |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
| Slco1a7 |
T |
A |
6: 141,684,739 (GRCm39) |
T239S |
probably benign |
Het |
| Ssu72 |
T |
C |
4: 155,816,483 (GRCm39) |
I155T |
probably benign |
Het |
| Tas2r102 |
A |
G |
6: 132,739,607 (GRCm39) |
R172G |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trav12-2 |
C |
A |
14: 53,853,859 (GRCm39) |
N2K |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,755,845 (GRCm39) |
Q205* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,180,052 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
G |
1: 187,995,588 (GRCm39) |
S120G |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,741,504 (GRCm39) |
|
probably benign |
Het |
| Zfp955b |
G |
T |
17: 33,521,238 (GRCm39) |
G236* |
probably null |
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 |
|
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 |
|
|
R5443:Zer1
|
UTSW |
2 |
30,001,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation