Incidental Mutation 'R5241:Zer1'
| ID |
400797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
042812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R5241 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 29994982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 471
(L471R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044751]
[ENSMUST00000113677]
|
| AlphaFold |
Q80ZJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044751
AA Change: L484R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: L484R
| 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: L471R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: L471R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154231
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930033H14Rik |
A |
G |
10: 69,048,581 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,150,871 (GRCm39) |
T881A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,048 (GRCm39) |
C3464* |
probably null |
Het |
| Afp |
A |
G |
5: 90,649,473 (GRCm39) |
M347V |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,068 (GRCm39) |
T1041A |
probably benign |
Het |
| Atl1 |
T |
C |
12: 70,005,887 (GRCm39) |
S398P |
possibly damaging |
Het |
| Atp8b4 |
G |
A |
2: 126,225,646 (GRCm39) |
P528L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,162,229 (GRCm39) |
P176T |
probably damaging |
Het |
| Bsnd |
A |
G |
4: 106,345,182 (GRCm39) |
V88A |
probably benign |
Het |
| Dnah7c |
T |
A |
1: 46,569,660 (GRCm39) |
F687Y |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,616,913 (GRCm39) |
I23M |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,784,624 (GRCm39) |
D228V |
probably damaging |
Het |
| Gatad2a |
G |
A |
8: 70,370,667 (GRCm39) |
Q107* |
probably null |
Het |
| Glis3 |
G |
T |
19: 28,327,423 (GRCm39) |
T663K |
probably benign |
Het |
| Gm10784 |
T |
A |
13: 50,099,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmc2 |
C |
T |
15: 63,696,743 (GRCm39) |
R476H |
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,735,995 (GRCm39) |
S202P |
possibly damaging |
Het |
| Map3k8 |
T |
C |
18: 4,340,750 (GRCm39) |
E188G |
probably damaging |
Het |
| Mccc1 |
T |
A |
3: 36,028,345 (GRCm39) |
Q487L |
probably benign |
Het |
| Msantd1 |
A |
G |
5: 35,078,813 (GRCm39) |
D116G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,095,275 (GRCm39) |
S212T |
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
| Or4p19 |
T |
C |
2: 88,242,442 (GRCm39) |
T187A |
possibly damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,524 (GRCm39) |
V192A |
probably benign |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,667 (GRCm39) |
I195N |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,269,451 (GRCm39) |
H272Q |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,250,145 (GRCm39) |
N242S |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,761,857 (GRCm39) |
D1441E |
probably damaging |
Het |
| Runx2 |
G |
T |
17: 44,950,664 (GRCm39) |
Y203* |
probably null |
Het |
| Sdr9c7 |
T |
G |
10: 127,745,659 (GRCm39) |
I257S |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,150,444 (GRCm39) |
M89T |
probably benign |
Het |
| St14 |
G |
T |
9: 31,011,714 (GRCm39) |
C397* |
probably null |
Het |
| Tas2r123 |
T |
C |
6: 132,824,181 (GRCm39) |
I26T |
probably benign |
Het |
| Tmem144 |
A |
T |
3: 79,721,431 (GRCm39) |
M329K |
probably benign |
Het |
| Tmem252 |
T |
C |
19: 24,651,491 (GRCm39) |
M20T |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,203,066 (GRCm39) |
V473A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,312,704 (GRCm39) |
R58* |
probably null |
Het |
| Zfp101 |
C |
T |
17: 33,601,210 (GRCm39) |
C182Y |
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 |
|
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 |
|
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'- ACGAGGGCAGTCAAGTTCAC -3'
(R):5'- CAGCAAGTATTAGTTGAGCCTGG -3'
Sequencing Primer
(F):5'- GAGGGCAGTCAAGTTCACATACC -3'
(R):5'- AGTTAAAAGCTAGCCCTGGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation