Incidental Mutation 'R7218:Zer1'
ID |
561567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zer1
|
Ensembl Gene |
ENSMUSG00000039686 |
Gene Name |
zyg-11 related, cell cycle regulator |
Synonyms |
Zyg11bl, C230075L19Rik |
MMRRC Submission |
045290-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R7218 (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 29995024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 470
(N470S)
|
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: N470S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046441 Gene: ENSMUSG00000039686 AA Change: N470S
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: N457S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109307 Gene: ENSMUSG00000039686 AA Change: N457S
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 |
0.8770 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (69/69) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C23Rik |
T |
C |
17: 46,043,977 (GRCm39) |
T94A |
unknown |
Het |
1700025G04Rik |
T |
C |
1: 151,791,259 (GRCm39) |
R101G |
probably damaging |
Het |
6430548M08Rik |
T |
A |
8: 120,872,322 (GRCm39) |
S83R |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,293,799 (GRCm39) |
S574P |
probably benign |
Het |
Ank |
A |
T |
15: 27,544,407 (GRCm39) |
Y56F |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,308,191 (GRCm39) |
D74G |
probably benign |
Het |
Apaf1 |
T |
A |
10: 90,872,864 (GRCm39) |
T738S |
probably damaging |
Het |
Apcs |
A |
T |
1: 172,722,231 (GRCm39) |
D38E |
possibly damaging |
Het |
Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
Atp8a1 |
T |
A |
5: 67,860,324 (GRCm39) |
D717V |
|
Het |
Baiap2l1 |
A |
G |
5: 144,212,687 (GRCm39) |
S443P |
probably benign |
Het |
Bmal1 |
A |
T |
7: 112,886,390 (GRCm39) |
H149L |
probably damaging |
Het |
Brix1 |
T |
C |
15: 10,483,378 (GRCm39) |
|
probably null |
Het |
C1qtnf6 |
T |
C |
15: 78,411,574 (GRCm39) |
E34G |
probably benign |
Het |
Chil3 |
A |
C |
3: 106,067,853 (GRCm39) |
|
probably null |
Het |
Chmp4c |
T |
A |
3: 10,432,198 (GRCm39) |
L36Q |
probably damaging |
Het |
Chrna2 |
T |
A |
14: 66,381,320 (GRCm39) |
|
probably null |
Het |
Clec1a |
C |
T |
6: 129,413,918 (GRCm39) |
C57Y |
probably damaging |
Het |
Clec7a |
G |
T |
6: 129,445,885 (GRCm39) |
T95K |
probably damaging |
Het |
Csf1r |
C |
A |
18: 61,263,396 (GRCm39) |
S926R |
probably damaging |
Het |
Dnajc9 |
A |
G |
14: 20,438,507 (GRCm39) |
I61T |
probably benign |
Het |
Extl1 |
T |
G |
4: 134,087,080 (GRCm39) |
S493R |
probably benign |
Het |
Fance |
A |
G |
17: 28,545,148 (GRCm39) |
D143G |
probably benign |
Het |
Fcho2 |
C |
T |
13: 98,890,121 (GRCm39) |
|
probably null |
Het |
Filip1 |
T |
C |
9: 79,725,356 (GRCm39) |
S1088G |
probably benign |
Het |
Gnat1 |
A |
C |
9: 107,553,184 (GRCm39) |
M319R |
possibly damaging |
Het |
Gpr132 |
A |
T |
12: 112,816,049 (GRCm39) |
V259E |
probably damaging |
Het |
Gprc5d |
T |
A |
6: 135,093,452 (GRCm39) |
M152L |
probably benign |
Het |
Hif3a |
C |
T |
7: 16,784,513 (GRCm39) |
R244H |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,952,649 (GRCm39) |
S322P |
possibly damaging |
Het |
Il33 |
T |
A |
19: 29,936,325 (GRCm39) |
F229I |
probably damaging |
Het |
Il4ra |
A |
G |
7: 125,174,950 (GRCm39) |
D386G |
probably benign |
Het |
Ino80 |
G |
T |
2: 119,288,608 (GRCm39) |
H33N |
probably benign |
Het |
Ip6k1 |
A |
G |
9: 107,922,781 (GRCm39) |
D228G |
unknown |
Het |
Mamdc2 |
C |
T |
19: 23,424,974 (GRCm39) |
A40T |
probably benign |
Het |
Meis3 |
T |
C |
7: 15,918,626 (GRCm39) |
V357A |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,371,282 (GRCm39) |
T4199A |
probably benign |
Het |
Myo7b |
A |
T |
18: 32,114,054 (GRCm39) |
M1099K |
probably benign |
Het |
Mzb1 |
A |
T |
18: 35,780,975 (GRCm39) |
H104Q |
probably benign |
Het |
Nfatc2 |
A |
G |
2: 168,413,184 (GRCm39) |
L167P |
probably benign |
Het |
Numa1 |
A |
T |
7: 101,650,117 (GRCm39) |
S1283C |
probably benign |
Het |
Nup98 |
T |
G |
7: 101,841,107 (GRCm39) |
|
probably null |
Het |
Or13p4 |
T |
C |
4: 118,547,215 (GRCm39) |
I145V |
probably benign |
Het |
Or5p55 |
T |
C |
7: 107,566,874 (GRCm39) |
L90P |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,386,091 (GRCm39) |
T1243A |
possibly damaging |
Het |
Pramel39-ps |
C |
A |
5: 94,451,113 (GRCm39) |
V338F |
probably benign |
Het |
Ptpro |
C |
T |
6: 137,431,596 (GRCm39) |
R1152W |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,389,284 (GRCm39) |
T1270A |
probably damaging |
Het |
Pwwp2b |
A |
C |
7: 138,836,049 (GRCm39) |
T497P |
probably damaging |
Het |
Rab44 |
T |
A |
17: 29,358,418 (GRCm39) |
V202E |
|
Het |
Rbfox1 |
C |
T |
16: 7,111,947 (GRCm39) |
T191I |
probably damaging |
Het |
Rufy4 |
A |
G |
1: 74,172,174 (GRCm39) |
K299R |
probably damaging |
Het |
Snip1 |
T |
A |
4: 124,966,712 (GRCm39) |
S381T |
probably damaging |
Het |
Spen |
T |
C |
4: 141,199,961 (GRCm39) |
I2889V |
possibly damaging |
Het |
Spopfm2 |
A |
T |
3: 94,082,856 (GRCm39) |
H318Q |
possibly damaging |
Het |
St3gal3 |
T |
A |
4: 117,814,639 (GRCm39) |
D218V |
|
Het |
Sun1 |
A |
G |
5: 139,212,442 (GRCm39) |
T70A |
unknown |
Het |
Tbc1d23 |
C |
T |
16: 56,990,745 (GRCm39) |
V678M |
probably damaging |
Het |
Tdh |
T |
A |
14: 63,733,206 (GRCm39) |
Y195F |
probably damaging |
Het |
Tescl |
C |
T |
7: 24,033,286 (GRCm39) |
R13H |
possibly damaging |
Het |
Tfap2c |
T |
A |
2: 172,399,277 (GRCm39) |
M508K |
probably benign |
Het |
Trappc4 |
A |
G |
9: 44,316,587 (GRCm39) |
M136T |
probably benign |
Het |
Tyk2 |
A |
G |
9: 21,016,350 (GRCm39) |
C1207R |
probably damaging |
Het |
Ugt2b36 |
T |
C |
5: 87,229,398 (GRCm39) |
Y355C |
probably damaging |
Het |
Vmn1r119 |
T |
A |
7: 20,745,572 (GRCm39) |
H270L |
probably benign |
Het |
Vmn2r20 |
G |
A |
6: 123,363,074 (GRCm39) |
P570L |
probably damaging |
Het |
Wnk1 |
A |
C |
6: 119,979,234 (GRCm39) |
Y284* |
probably null |
Het |
Yars2 |
C |
T |
16: 16,121,182 (GRCm39) |
A112V |
probably damaging |
Het |
Zfp747l1 |
A |
T |
7: 126,983,852 (GRCm39) |
S417T |
probably benign |
Het |
Zfp879 |
A |
C |
11: 50,723,508 (GRCm39) |
V516G |
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 |
|
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 |
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'- TCATTGTCCACCTGGCAGAC -3'
(R):5'- ACAGCAAGTATTAGTTGAGCCTG -3'
Sequencing Primer
(F):5'- CCAGGGCATTGCACAAGTG -3'
(R):5'- AGTTAAAAGCTAGCCCTGGC -3'
|
Posted On |
2019-06-26 |