Incidental Mutation 'R7719:Zer1'
| ID |
595090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
045776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R7719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30001243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 87
(L87H)
|
| 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: L87H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: L87H
| 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: L87H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: L87H
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (67/68) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
T |
A |
1: 155,562,758 (GRCm39) |
L253H |
probably damaging |
Het |
| Adam11 |
T |
C |
11: 102,663,303 (GRCm39) |
V238A |
probably benign |
Het |
| Amer3 |
A |
T |
1: 34,628,083 (GRCm39) |
H774L |
possibly damaging |
Het |
| Anapc15 |
T |
C |
7: 101,550,236 (GRCm39) |
L150P |
unknown |
Het |
| Ano8 |
G |
T |
8: 71,935,784 (GRCm39) |
T278K |
possibly damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,939,074 (GRCm39) |
K618E |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,028,981 (GRCm39) |
S1142L |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,190,813 (GRCm39) |
E471D |
probably damaging |
Het |
| Cks1b |
T |
C |
3: 89,323,635 (GRCm39) |
N45D |
probably benign |
Het |
| Clasrp |
T |
C |
7: 19,321,769 (GRCm39) |
T296A |
probably damaging |
Het |
| Cluap1 |
C |
T |
16: 3,727,467 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
T |
A |
9: 9,704,903 (GRCm39) |
D632V |
probably damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,920,591 (GRCm39) |
Q593* |
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,913,846 (GRCm39) |
I457K |
probably benign |
Het |
| Crybb3 |
G |
T |
5: 113,223,834 (GRCm39) |
Q192K |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,417,383 (GRCm39) |
A123T |
probably benign |
Het |
| Cyp2b13 |
C |
T |
7: 25,795,095 (GRCm39) |
A442V |
probably damaging |
Het |
| Cyp2j9 |
G |
A |
4: 96,457,079 (GRCm39) |
T464I |
probably benign |
Het |
| Cyp4a29 |
G |
A |
4: 115,108,137 (GRCm39) |
G320R |
possibly damaging |
Het |
| Dbp |
T |
C |
7: 45,359,174 (GRCm39) |
I283T |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 105,002,674 (GRCm39) |
I303T |
probably benign |
Het |
| Efcab8 |
T |
A |
2: 153,629,665 (GRCm39) |
V166D |
|
Het |
| Efhc1 |
A |
T |
1: 21,049,744 (GRCm39) |
I535F |
probably benign |
Het |
| Epb41l3 |
A |
G |
17: 69,560,409 (GRCm39) |
I319V |
possibly damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,035,900 (GRCm39) |
T193A |
unknown |
Het |
| Fam227a |
T |
C |
15: 79,504,913 (GRCm39) |
N510S |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,284,841 (GRCm39) |
C1221R |
possibly damaging |
Het |
| Gm6741 |
A |
C |
17: 91,544,472 (GRCm39) |
E78D |
probably benign |
Het |
| Gpam |
C |
T |
19: 55,070,102 (GRCm39) |
V385I |
probably damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,059 (GRCm39) |
V174A |
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,650,813 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,441,080 (GRCm39) |
D5509V |
possibly damaging |
Het |
| Hoxc13 |
A |
T |
15: 102,830,293 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Hunk |
A |
G |
16: 90,293,554 (GRCm39) |
D612G |
probably benign |
Het |
| Igsf3 |
G |
A |
3: 101,342,857 (GRCm39) |
R478H |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,740,486 (GRCm39) |
Q532R |
probably benign |
Het |
| Jph1 |
T |
C |
1: 17,162,215 (GRCm39) |
Y149C |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,544,395 (GRCm39) |
D33G |
probably null |
Het |
| Mex3c |
G |
T |
18: 73,723,061 (GRCm39) |
A385S |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,051,366 (GRCm39) |
S320T |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,909,617 (GRCm39) |
N314K |
possibly damaging |
Het |
| Omg |
T |
A |
11: 79,393,059 (GRCm39) |
E266D |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,603 (GRCm39) |
M57K |
probably damaging |
Het |
| Paqr9 |
T |
A |
9: 95,442,829 (GRCm39) |
V273E |
possibly damaging |
Het |
| Phkg1 |
G |
A |
5: 129,902,699 (GRCm39) |
|
probably benign |
Het |
| Plekhm3 |
T |
C |
1: 64,960,901 (GRCm39) |
K452E |
probably benign |
Het |
| Plpbp |
T |
A |
8: 27,535,974 (GRCm39) |
I86N |
|
Het |
| Prl2c1 |
G |
T |
13: 28,035,780 (GRCm39) |
A51S |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,706,466 (GRCm39) |
H108Q |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,107,280 (GRCm39) |
C1614* |
probably null |
Het |
| Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
| Rassf9 |
A |
G |
10: 102,381,461 (GRCm39) |
D281G |
probably benign |
Het |
| Resf1 |
T |
C |
6: 149,228,853 (GRCm39) |
I633T |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,377,496 (GRCm39) |
D61G |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,745,229 (GRCm39) |
S2055P |
possibly damaging |
Het |
| Six5 |
G |
A |
7: 18,830,803 (GRCm39) |
A477T |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,352,469 (GRCm39) |
E129G |
probably damaging |
Het |
| Stard10 |
C |
T |
7: 100,995,320 (GRCm39) |
A78V |
not run |
Het |
| Stard3 |
T |
C |
11: 98,266,502 (GRCm39) |
V127A |
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,068,523 (GRCm39) |
P3088S |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,440,489 (GRCm39) |
D508G |
probably damaging |
Het |
| Tgm2 |
T |
A |
2: 157,985,038 (GRCm39) |
T23S |
probably damaging |
Het |
| Ttll10 |
G |
T |
4: 156,131,665 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
T |
13: 89,852,738 (GRCm39) |
S741T |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,319,618 (GRCm39) |
N454S |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,460 (GRCm39) |
E276V |
probably damaging |
Het |
| Wnt8a |
T |
C |
18: 34,680,588 (GRCm39) |
W318R |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,901,212 (GRCm39) |
N380K |
probably benign |
Het |
| Zfp90 |
T |
C |
8: 107,145,725 (GRCm39) |
V19A |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably 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 |
|
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 |
|
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'- GACTCAAGGACACCAGACTG -3'
(R):5'- CCTGTGATATGGCTTCCAGAG -3'
Sequencing Primer
(F):5'- ACCAGACTGTGTCGGAAGCTC -3'
(R):5'- GCTTCCAGAGGCAGCCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation