Incidental Mutation 'R7976:Zer1'
ID |
650882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zer1
|
Ensembl Gene |
ENSMUSG00000039686 |
Gene Name |
zyg-11 related, cell cycle regulator |
Synonyms |
Zyg11bl, C230075L19Rik |
MMRRC Submission |
046019-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R7976 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29997520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 462
(Y462C)
|
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: Y462C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000046441 Gene: ENSMUSG00000039686 AA Change: Y462C
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: Y449C
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109307 Gene: ENSMUSG00000039686 AA Change: Y449C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss1 |
A |
C |
12: 112,602,831 (GRCm39) |
I341L |
probably benign |
Het |
Aldh1b1 |
T |
A |
4: 45,803,092 (GRCm39) |
M210K |
possibly damaging |
Het |
Ankrd17 |
G |
A |
5: 90,431,451 (GRCm39) |
Q778* |
probably null |
Het |
Bmper |
T |
C |
9: 23,318,106 (GRCm39) |
V575A |
probably damaging |
Het |
Brinp2 |
A |
G |
1: 158,073,913 (GRCm39) |
V736A |
probably benign |
Het |
Ccdc81 |
A |
T |
7: 89,515,723 (GRCm39) |
L652* |
probably null |
Het |
Cdt1 |
C |
T |
8: 123,298,585 (GRCm39) |
R437W |
probably damaging |
Het |
Ckb |
A |
C |
12: 111,637,466 (GRCm39) |
L165R |
possibly damaging |
Het |
Col25a1 |
G |
T |
3: 130,290,075 (GRCm39) |
G255V |
probably damaging |
Het |
Ddx17 |
A |
G |
15: 79,420,156 (GRCm39) |
|
probably null |
Het |
Dennd4a |
G |
T |
9: 64,759,794 (GRCm39) |
G300W |
possibly damaging |
Het |
Dlg4 |
T |
A |
11: 69,930,008 (GRCm39) |
I316N |
probably damaging |
Het |
Dlgap2 |
C |
T |
8: 14,793,410 (GRCm39) |
P467L |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,732,227 (GRCm39) |
I4226M |
possibly damaging |
Het |
Drc1 |
G |
A |
5: 30,521,829 (GRCm39) |
A734T |
probably benign |
Het |
Entpd1 |
A |
G |
19: 40,600,865 (GRCm39) |
M1V |
probably null |
Het |
Exph5 |
T |
G |
9: 53,287,935 (GRCm39) |
I1672S |
possibly damaging |
Het |
Fam149b |
T |
A |
14: 20,427,852 (GRCm39) |
D379E |
probably damaging |
Het |
Fgfr2 |
T |
C |
7: 129,787,074 (GRCm39) |
T461A |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,919,946 (GRCm39) |
V469A |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,338,231 (GRCm39) |
K175* |
probably null |
Het |
Fsd2 |
C |
T |
7: 81,209,629 (GRCm39) |
G71E |
probably benign |
Het |
Gcat |
T |
C |
15: 78,919,188 (GRCm39) |
I116T |
probably damaging |
Het |
Gigyf2 |
G |
A |
1: 87,331,458 (GRCm39) |
S202N |
unknown |
Het |
Glra3 |
T |
G |
8: 56,565,911 (GRCm39) |
|
probably null |
Het |
Golga4 |
C |
T |
9: 118,365,836 (GRCm39) |
T296I |
possibly damaging |
Het |
Herc1 |
C |
T |
9: 66,341,552 (GRCm39) |
T1816I |
possibly damaging |
Het |
Igfbpl1 |
C |
A |
4: 45,826,786 (GRCm39) |
R3L |
unknown |
Het |
Ighv15-2 |
A |
T |
12: 114,528,470 (GRCm39) |
S28T |
probably benign |
Het |
Kat2b |
T |
A |
17: 53,955,835 (GRCm39) |
M427K |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,295,906 (GRCm39) |
T882A |
probably damaging |
Het |
Kif1a |
G |
T |
1: 92,967,496 (GRCm39) |
F1138L |
probably damaging |
Het |
Klhl20 |
A |
T |
1: 160,934,307 (GRCm39) |
S237R |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,123,014 (GRCm39) |
N725K |
probably damaging |
Het |
Lmtk3 |
A |
G |
7: 45,444,890 (GRCm39) |
D1191G |
unknown |
Het |
Ltbp1 |
C |
A |
17: 75,670,358 (GRCm39) |
N1466K |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,195,432 (GRCm39) |
E242G |
probably damaging |
Het |
Lyrm1 |
T |
C |
7: 119,515,449 (GRCm39) |
V113A |
probably benign |
Het |
Mfsd13a |
G |
T |
19: 46,360,446 (GRCm39) |
A333S |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,167,214 (GRCm39) |
S380P |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,238,829 (GRCm39) |
K1295E |
possibly damaging |
Het |
Muc5ac |
A |
T |
7: 141,363,528 (GRCm39) |
I2280F |
unknown |
Het |
Neurod2 |
A |
C |
11: 98,218,023 (GRCm39) |
F380L |
probably damaging |
Het |
Ntrk3 |
G |
A |
7: 78,005,954 (GRCm39) |
A469V |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,175,888 (GRCm39) |
F584L |
probably damaging |
Het |
Oas1d |
A |
T |
5: 121,057,210 (GRCm39) |
Y272F |
probably damaging |
Het |
Olfm3 |
T |
C |
3: 114,874,794 (GRCm39) |
V30A |
probably benign |
Het |
Or4c110 |
T |
A |
2: 88,831,973 (GRCm39) |
I220F |
probably damaging |
Het |
Or5b117 |
A |
G |
19: 13,431,563 (GRCm39) |
I106T |
probably benign |
Het |
Or8k22 |
A |
G |
2: 86,163,064 (GRCm39) |
V212A |
probably benign |
Het |
Pcdhga12 |
A |
G |
18: 37,901,427 (GRCm39) |
Y753C |
probably damaging |
Het |
Phox2b |
A |
G |
5: 67,253,514 (GRCm39) |
V294A |
unknown |
Het |
Prdm2 |
A |
T |
4: 142,859,812 (GRCm39) |
C1159* |
probably null |
Het |
Ptpn12 |
G |
T |
5: 21,207,631 (GRCm39) |
S275* |
probably null |
Het |
Rigi |
T |
C |
4: 40,209,894 (GRCm39) |
M725V |
probably damaging |
Het |
Rnf223 |
A |
T |
4: 156,216,776 (GRCm39) |
E50D |
probably damaging |
Het |
Rrp12 |
A |
T |
19: 41,879,548 (GRCm39) |
Y169N |
probably benign |
Het |
Sgip1 |
T |
C |
4: 102,757,736 (GRCm39) |
|
probably null |
Het |
Shank2 |
T |
C |
7: 143,964,798 (GRCm39) |
I802T |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,481,329 (GRCm39) |
N64I |
probably damaging |
Het |
Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
Tmem106c |
G |
C |
15: 97,865,985 (GRCm39) |
G192R |
probably damaging |
Het |
Tmem72 |
T |
C |
6: 116,673,800 (GRCm39) |
H106R |
probably damaging |
Het |
Upf2 |
G |
C |
2: 6,030,926 (GRCm39) |
V789L |
unknown |
Het |
Vash1 |
A |
G |
12: 86,726,758 (GRCm39) |
|
probably benign |
Het |
Vmn1r201 |
T |
A |
13: 22,658,875 (GRCm39) |
Y30N |
probably benign |
Het |
Xpr1 |
A |
G |
1: 155,166,035 (GRCm39) |
F571L |
possibly damaging |
Het |
Yif1a |
T |
C |
19: 5,139,815 (GRCm39) |
S87P |
probably damaging |
Het |
Zfp597 |
G |
A |
16: 3,684,375 (GRCm39) |
P127L |
possibly damaging |
Het |
Zxdc |
T |
C |
6: 90,375,749 (GRCm39) |
S742P |
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 |
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 |
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'- TCTCAGAGTAAGGACGGCAG -3'
(R):5'- ACACAGCTGGTCATCACAGC -3'
Sequencing Primer
(F):5'- AGATACCACCTGTTTTTAGAACTCC -3'
(R):5'- GCCCTCAAGTGTCACAAGTATG -3'
|
Posted On |
2020-09-15 |