Incidental Mutation 'R7383:Zer1'
| ID |
572847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
045465-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R7383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30001253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 84
(R84C)
|
| 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: R84C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: R84C
| 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: R84C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: R84C
| 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: 99.3%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
T |
A |
11: 5,818,548 (GRCm39) |
I511N |
probably damaging |
Het |
| Ap5m1 |
T |
G |
14: 49,311,653 (GRCm39) |
V241G |
possibly damaging |
Het |
| BC049715 |
T |
A |
6: 136,817,453 (GRCm39) |
I231N |
probably damaging |
Het |
| Bckdhb |
T |
G |
9: 83,835,766 (GRCm39) |
V90G |
possibly damaging |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd8 |
T |
C |
14: 52,452,776 (GRCm39) |
I1248V |
probably damaging |
Het |
| Ckap2l |
A |
T |
2: 129,111,172 (GRCm39) |
M675K |
possibly damaging |
Het |
| Ckap4 |
A |
T |
10: 84,364,148 (GRCm39) |
V305E |
probably damaging |
Het |
| Clasrp |
C |
A |
7: 19,319,198 (GRCm39) |
R489L |
unknown |
Het |
| Col24a1 |
A |
G |
3: 145,004,599 (GRCm39) |
I26V |
probably benign |
Het |
| Cort |
C |
T |
4: 149,209,861 (GRCm39) |
A64T |
possibly damaging |
Het |
| Dmkn |
T |
A |
7: 30,464,793 (GRCm39) |
N255K |
unknown |
Het |
| Dph2 |
A |
T |
4: 117,748,566 (GRCm39) |
L69Q |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,310,282 (GRCm39) |
I432T |
|
Het |
| Fgd3 |
T |
C |
13: 49,421,785 (GRCm39) |
K531R |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,099 (GRCm39) |
K111E |
probably benign |
Het |
| Gdf6 |
T |
A |
4: 9,859,537 (GRCm39) |
D206E |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,600,354 (GRCm39) |
L429Q |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,276 (GRCm39) |
F90S |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,098 (GRCm39) |
Q3112L |
unknown |
Het |
| Hsd17b4 |
A |
C |
18: 50,297,917 (GRCm39) |
K402T |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,747,206 (GRCm39) |
T29A |
probably benign |
Het |
| Ikbkb |
C |
A |
8: 23,159,066 (GRCm39) |
A471S |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,296,310 (GRCm39) |
D887G |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,316,411 (GRCm39) |
L805P |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,025,537 (GRCm39) |
N118I |
probably benign |
Het |
| Kif26b |
T |
G |
1: 178,358,275 (GRCm39) |
C129G |
probably damaging |
Het |
| Mga |
G |
A |
2: 119,790,821 (GRCm39) |
A2236T |
probably damaging |
Het |
| Micu2 |
T |
C |
14: 58,154,810 (GRCm39) |
Q405R |
possibly damaging |
Het |
| Myo1e |
T |
A |
9: 70,204,577 (GRCm39) |
V59D |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,552,532 (GRCm39) |
I1770T |
probably damaging |
Het |
| Ndufa10 |
A |
T |
1: 92,392,183 (GRCm39) |
I190N |
probably damaging |
Het |
| Niban3 |
A |
C |
8: 72,056,470 (GRCm39) |
E390A |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,474,078 (GRCm39) |
H623Q |
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,167,777 (GRCm39) |
T1005A |
probably benign |
Het |
| Or10ag58 |
A |
G |
2: 87,265,721 (GRCm39) |
S297G |
possibly damaging |
Het |
| Or14c39 |
A |
T |
7: 86,343,960 (GRCm39) |
I99F |
probably damaging |
Het |
| Or1e22 |
A |
G |
11: 73,376,715 (GRCm39) |
*312Q |
probably null |
Het |
| Or2b4 |
A |
G |
17: 38,116,972 (GRCm39) |
K312R |
probably benign |
Het |
| Or2w3 |
T |
C |
11: 58,557,011 (GRCm39) |
S209P |
possibly damaging |
Het |
| Or5t7 |
A |
G |
2: 86,507,263 (GRCm39) |
V138A |
possibly damaging |
Het |
| Or8s8 |
C |
G |
15: 98,354,578 (GRCm39) |
P129R |
probably damaging |
Het |
| Pafah1b2 |
C |
T |
9: 45,880,147 (GRCm39) |
G177R |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,300,317 (GRCm39) |
S521P |
unknown |
Het |
| Plpp2 |
A |
T |
10: 79,366,841 (GRCm39) |
L25Q |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,129,734 (GRCm39) |
|
probably null |
Het |
| Ppl |
G |
T |
16: 4,915,835 (GRCm39) |
P576Q |
probably damaging |
Het |
| Rab38 |
T |
C |
7: 88,079,637 (GRCm39) |
Y10H |
possibly damaging |
Het |
| Rbfox1 |
G |
A |
16: 6,887,899 (GRCm39) |
G13S |
probably benign |
Het |
| Rhot1 |
C |
G |
11: 80,114,760 (GRCm39) |
P56R |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,174,385 (GRCm39) |
W1298R |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,890,292 (GRCm39) |
H338Y |
probably damaging |
Het |
| Slc8a3 |
T |
G |
12: 81,362,579 (GRCm39) |
Y80S |
probably damaging |
Het |
| Slco6c1 |
A |
T |
1: 97,003,608 (GRCm39) |
Y513* |
probably null |
Het |
| Smarcd2 |
A |
G |
11: 106,155,602 (GRCm39) |
C405R |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,222,411 (GRCm39) |
R3198* |
probably null |
Het |
| Tmeff1 |
T |
A |
4: 48,636,841 (GRCm39) |
C180S |
probably damaging |
Het |
| Tmem132a |
A |
T |
19: 10,844,358 (GRCm39) |
M80K |
probably benign |
Het |
| Tnfsf12 |
A |
G |
11: 69,577,892 (GRCm39) |
V175A |
probably damaging |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Togaram2 |
A |
T |
17: 72,007,512 (GRCm39) |
I354F |
probably damaging |
Het |
| Uchl5 |
T |
A |
1: 143,659,753 (GRCm39) |
S42R |
probably benign |
Het |
| Virma |
C |
A |
4: 11,514,026 (GRCm39) |
L627I |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,684 (GRCm39) |
I143K |
probably benign |
Het |
| Vmn2r95 |
T |
G |
17: 18,660,734 (GRCm39) |
V382G |
probably benign |
Het |
| Wipf3 |
G |
T |
6: 54,462,263 (GRCm39) |
A158S |
probably benign |
Het |
| Ylpm1 |
T |
G |
12: 85,091,242 (GRCm39) |
S1809A |
possibly damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,524,748 (GRCm39) |
C191S |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,305,710 (GRCm39) |
V991D |
probably benign |
Het |
| Zscan4b |
C |
A |
7: 10,637,960 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zswim2 |
A |
T |
2: 83,745,672 (GRCm39) |
S589T |
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 |
|
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 |
|
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'- TCTCGCAGTTGGTCAGGTAG -3'
(R):5'- TAGTCAGAGTCTAAGCAGATGC -3'
Sequencing Primer
(F):5'- AGTTGGTCAGGTAGAGCTCCAC -3'
(R):5'- TAGTTGATGTCATAGCCCCCAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation