Incidental Mutation 'R7190:Zer1'
ID |
559526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zer1
|
Ensembl Gene |
ENSMUSG00000039686 |
Gene Name |
zyg-11 related, cell cycle regulator |
Synonyms |
Zyg11bl, C230075L19Rik |
MMRRC Submission |
045273-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R7190 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29993444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 554
(D554G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044751]
[ENSMUST00000113677]
|
AlphaFold |
Q80ZJ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044751
AA Change: D554G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046441 Gene: ENSMUSG00000039686 AA Change: D554G
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: D541G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109307 Gene: ENSMUSG00000039686 AA Change: D541G
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 |
|
Meta Mutation Damage Score |
0.7967 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (50/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
Add3 |
C |
T |
19: 53,205,330 (GRCm39) |
R27* |
probably null |
Het |
Armc3 |
T |
A |
2: 19,297,947 (GRCm39) |
Y573N |
probably damaging |
Het |
Bod1l |
A |
C |
5: 41,977,281 (GRCm39) |
N1344K |
probably benign |
Het |
Camta1 |
T |
G |
4: 151,232,980 (GRCm39) |
N231T |
possibly damaging |
Het |
Capza2 |
T |
A |
6: 17,654,120 (GRCm39) |
Y57* |
probably null |
Het |
Ccdc168 |
A |
C |
1: 44,100,775 (GRCm39) |
S108A |
probably benign |
Het |
Ccdc186 |
T |
A |
19: 56,780,432 (GRCm39) |
I871F |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,359,574 (GRCm39) |
|
probably null |
Het |
Dnah2 |
G |
T |
11: 69,439,923 (GRCm39) |
|
probably null |
Het |
Fhod3 |
T |
C |
18: 25,223,812 (GRCm39) |
F1053L |
probably damaging |
Het |
Foxj1 |
A |
G |
11: 116,223,201 (GRCm39) |
Y201H |
possibly damaging |
Het |
Gatad2b |
T |
A |
3: 90,257,722 (GRCm39) |
I210N |
probably benign |
Het |
Gba1 |
T |
A |
3: 89,111,669 (GRCm39) |
I112N |
probably damaging |
Het |
Gbp2 |
T |
C |
3: 142,339,208 (GRCm39) |
V420A |
probably benign |
Het |
Golga3 |
T |
A |
5: 110,357,721 (GRCm39) |
H1072Q |
probably damaging |
Het |
Gpr150 |
C |
T |
13: 76,203,992 (GRCm39) |
A318T |
probably benign |
Het |
Gpr6 |
T |
C |
10: 40,946,956 (GRCm39) |
N209D |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,709,946 (GRCm39) |
N1200S |
possibly damaging |
Het |
Ifi207 |
G |
A |
1: 173,557,818 (GRCm39) |
H307Y |
unknown |
Het |
Il20ra |
A |
T |
10: 19,618,689 (GRCm39) |
I46F |
probably damaging |
Het |
Lvrn |
A |
G |
18: 47,033,570 (GRCm39) |
D927G |
probably benign |
Het |
Nlrc4 |
G |
T |
17: 74,752,198 (GRCm39) |
D728E |
probably damaging |
Het |
Nup107 |
T |
C |
10: 117,598,040 (GRCm39) |
D630G |
probably benign |
Het |
Or1e19 |
A |
T |
11: 73,315,990 (GRCm39) |
I273N |
probably benign |
Het |
Or6c5c |
T |
C |
10: 129,298,626 (GRCm39) |
I27T |
probably benign |
Het |
Pclo |
C |
A |
5: 14,729,743 (GRCm39) |
A2867D |
unknown |
Het |
Perm1 |
A |
G |
4: 156,304,272 (GRCm39) |
T754A |
possibly damaging |
Het |
Plpbp |
G |
T |
8: 27,541,325 (GRCm39) |
V162L |
probably benign |
Het |
Plscr4 |
A |
T |
9: 92,370,694 (GRCm39) |
E220D |
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 101,089,726 (GRCm39) |
M199K |
probably benign |
Het |
Pramel38 |
T |
G |
5: 94,366,096 (GRCm39) |
N71K |
probably benign |
Het |
Rassf6 |
T |
C |
5: 90,754,666 (GRCm39) |
E204G |
probably damaging |
Het |
Reln |
A |
C |
5: 22,252,945 (GRCm39) |
D667E |
probably damaging |
Het |
Rere |
A |
G |
4: 150,695,410 (GRCm39) |
I462V |
unknown |
Het |
Rpain |
A |
G |
11: 70,862,735 (GRCm39) |
E76G |
possibly damaging |
Het |
Strc |
T |
G |
2: 121,199,507 (GRCm39) |
I1311L |
probably benign |
Het |
Svil |
A |
G |
18: 5,092,937 (GRCm39) |
M1385V |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,113,361 (GRCm39) |
D1083E |
probably benign |
Het |
Szt2 |
T |
A |
4: 118,246,203 (GRCm39) |
H986L |
probably damaging |
Het |
Tcl1b2 |
G |
T |
12: 105,113,493 (GRCm39) |
|
probably null |
Het |
Thy1 |
T |
A |
9: 43,958,222 (GRCm39) |
S117T |
possibly damaging |
Het |
Tmem183a |
A |
T |
1: 134,282,496 (GRCm39) |
I203N |
probably damaging |
Het |
Tmprss11g |
T |
C |
5: 86,644,491 (GRCm39) |
I118V |
probably benign |
Het |
Tsen34 |
T |
C |
7: 3,697,806 (GRCm39) |
V69A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,717,143 (GRCm39) |
Q7506R |
unknown |
Het |
Vmn1r184 |
T |
C |
7: 25,967,105 (GRCm39) |
S284P |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,398,205 (GRCm39) |
D810G |
probably benign |
Het |
Zfp626 |
A |
T |
7: 27,517,768 (GRCm39) |
T250S |
probably benign |
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 |
|
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 |
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'- CTCTCAGCAGCAGACATTGTC -3'
(R):5'- CTTCTGACTCAGGCAACCTC -3'
Sequencing Primer
(F):5'- CTGTGTGCCCATGGGAG -3'
(R):5'- GACTCAGGCAACCTCTCTCC -3'
|
Posted On |
2019-06-26 |