Incidental Mutation 'R7813:Zer1'
| ID |
601274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
045868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R7813 (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 30000385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 265
(D265G)
|
| 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: D265G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: D265G
| 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: D252G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: D252G
| 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: 99.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
A |
10: 29,100,896 (GRCm39) |
R423K |
probably benign |
Het |
| Acot7 |
T |
C |
4: 152,307,575 (GRCm39) |
S170P |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,380,620 (GRCm39) |
Q341R |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,082,189 (GRCm39) |
E1206G |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 112,008,133 (GRCm39) |
K122N |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,049,726 (GRCm39) |
L203P |
possibly damaging |
Het |
| C1rb |
A |
T |
6: 124,557,488 (GRCm39) |
I542F |
probably benign |
Het |
| Cadm3 |
C |
A |
1: 173,171,956 (GRCm39) |
V206L |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,885,419 (GRCm39) |
D380G |
probably damaging |
Het |
| Ccdc42 |
A |
T |
11: 68,488,534 (GRCm39) |
Q164L |
probably benign |
Het |
| Ccnd1 |
A |
G |
7: 144,491,622 (GRCm39) |
|
probably null |
Het |
| Cep120 |
T |
C |
18: 53,871,578 (GRCm39) |
D98G |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,554,155 (GRCm39) |
T336A |
probably benign |
Het |
| Clca3a2 |
C |
A |
3: 144,790,726 (GRCm39) |
A449S |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,657,245 (GRCm39) |
F844L |
probably benign |
Het |
| Fbxo11 |
T |
A |
17: 88,308,245 (GRCm39) |
I480F |
|
Het |
| Fcrl5 |
A |
G |
3: 87,350,930 (GRCm39) |
T147A |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,969,320 (GRCm39) |
I133F |
|
Het |
| Gpr155 |
C |
T |
2: 73,212,329 (GRCm39) |
W98* |
probably null |
Het |
| Hspa4 |
A |
G |
11: 53,162,863 (GRCm39) |
S408P |
probably damaging |
Het |
| Il12rb2 |
G |
A |
6: 67,333,635 (GRCm39) |
R215C |
possibly damaging |
Het |
| Itga5 |
T |
A |
15: 103,265,741 (GRCm39) |
|
probably null |
Het |
| Kcnip3 |
T |
A |
2: 127,323,703 (GRCm39) |
|
probably null |
Het |
| Krt12 |
A |
G |
11: 99,309,309 (GRCm39) |
|
probably null |
Het |
| Marchf3 |
A |
T |
18: 56,916,163 (GRCm39) |
S177R |
probably benign |
Het |
| Minpp1 |
T |
G |
19: 32,468,803 (GRCm39) |
F229V |
probably damaging |
Het |
| Muc2 |
G |
A |
7: 141,282,543 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
G |
11: 68,676,735 (GRCm39) |
T906A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,218,056 (GRCm39) |
D43G |
probably benign |
Het |
| Nacad |
C |
T |
11: 6,549,071 (GRCm39) |
D1327N |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,331,048 (GRCm39) |
Y2219F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,953,163 (GRCm39) |
S1130P |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,486,719 (GRCm39) |
N415S |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,665,678 (GRCm39) |
I293V |
possibly damaging |
Het |
| Prpf38a |
A |
T |
4: 108,436,277 (GRCm39) |
I12N |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,372,413 (GRCm39) |
V1420M |
probably damaging |
Het |
| Qars1 |
A |
G |
9: 108,386,670 (GRCm39) |
D161G |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,247,549 (GRCm39) |
D957E |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,689 (GRCm39) |
Y1400C |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,832,801 (GRCm39) |
I999V |
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,181,958 (GRCm39) |
L1054H |
probably damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,088,455 (GRCm39) |
A906T |
probably damaging |
Het |
| Srd5a2 |
A |
G |
17: 74,331,541 (GRCm39) |
F152S |
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,835,888 (GRCm39) |
L241* |
probably null |
Het |
| Strip2 |
A |
T |
6: 29,923,912 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
A |
C |
6: 42,650,363 (GRCm39) |
Y905* |
probably null |
Het |
| Tet2 |
T |
C |
3: 133,179,404 (GRCm39) |
I1254V |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,487,522 (GRCm39) |
N681I |
probably damaging |
Het |
| Trappc6a |
A |
G |
7: 19,248,124 (GRCm39) |
|
probably null |
Het |
| Trav12-2 |
A |
T |
14: 53,854,223 (GRCm39) |
K66* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,597,841 (GRCm39) |
I19691F |
probably damaging |
Het |
| Tubgcp5 |
A |
T |
7: 55,450,444 (GRCm39) |
Q185L |
possibly damaging |
Het |
| Vmn1r44 |
A |
T |
6: 89,869,192 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,628,820 (GRCm39) |
D2717G |
possibly damaging |
Het |
| Vps13d |
A |
T |
4: 144,904,633 (GRCm39) |
Y133* |
probably null |
Het |
| Zfp710 |
A |
G |
7: 79,730,859 (GRCm39) |
D12G |
possibly damaging |
Het |
| Zfp819 |
T |
C |
7: 43,266,191 (GRCm39) |
S225P |
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 |
|
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'- AACTTGCTCAGGGCTTAGTG -3'
(R):5'- GAGCCCACTCTTTAGACCAC -3'
Sequencing Primer
(F):5'- GCTTAGTGAGTGGCCTCCTC -3'
(R):5'- TTAGACCACACACTGTAGAGAGTTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation