Incidental Mutation 'R8896:Zer1'
| ID |
678003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
068698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R8896 (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 G
at 29993430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 559
(F559L)
|
| 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: F559L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: F559L
| 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: F546L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: F546L
| 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 |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
G |
1: 58,291,233 (GRCm39) |
S784A |
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,552,425 (GRCm39) |
H581L |
probably benign |
Het |
| Atp11a |
T |
C |
8: 12,899,781 (GRCm39) |
Y915H |
probably damaging |
Het |
| Atp4b |
T |
C |
8: 13,437,514 (GRCm39) |
D213G |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,113,640 (GRCm39) |
S328G |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,410,876 (GRCm39) |
Y685F |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,831,203 (GRCm39) |
A580T |
probably benign |
Het |
| Cdc42bpa |
GACAACA |
GACA |
1: 179,958,373 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,408,155 (GRCm39) |
V1396D |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,254 (GRCm39) |
I404V |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,851,581 (GRCm39) |
M137K |
possibly damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,644,454 (GRCm39) |
Y257C |
unknown |
Het |
| Dennd1c |
T |
A |
17: 57,381,512 (GRCm39) |
D116V |
probably damaging |
Het |
| Dph2 |
G |
A |
4: 117,747,575 (GRCm39) |
R270* |
probably null |
Het |
| Dpp8 |
A |
C |
9: 64,985,318 (GRCm39) |
H792P |
possibly damaging |
Het |
| Dusp29 |
T |
C |
14: 21,736,763 (GRCm39) |
D113G |
probably benign |
Het |
| Efs |
T |
C |
14: 55,157,756 (GRCm39) |
E185G |
possibly damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,056 (GRCm39) |
E480G |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,583,828 (GRCm39) |
T336A |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,783,852 (GRCm39) |
|
probably benign |
Het |
| Galnt4 |
T |
A |
10: 98,945,955 (GRCm39) |
V560D |
probably damaging |
Het |
| Gbp2b |
C |
A |
3: 142,309,327 (GRCm39) |
T146K |
probably damaging |
Het |
| Gbp5 |
C |
T |
3: 142,211,308 (GRCm39) |
T346I |
probably damaging |
Het |
| Glrx |
G |
T |
13: 75,995,317 (GRCm39) |
C79F |
probably damaging |
Het |
| Glt8d2 |
T |
A |
10: 82,490,616 (GRCm39) |
T225S |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,562,483 (GRCm39) |
F456L |
possibly damaging |
Het |
| Gse1 |
T |
G |
8: 121,303,185 (GRCm39) |
S1109A |
unknown |
Het |
| Gstp3 |
A |
T |
19: 4,108,573 (GRCm39) |
L63Q |
probably damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,239 (GRCm39) |
R267W |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,147,286 (GRCm39) |
I801N |
possibly damaging |
Het |
| Ido1 |
G |
T |
8: 25,077,880 (GRCm39) |
D153E |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnj9 |
T |
A |
1: 172,153,360 (GRCm39) |
S255C |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,629,294 (GRCm39) |
N39D |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,409,095 (GRCm39) |
S269T |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,978 (GRCm39) |
V296I |
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,585,132 (GRCm39) |
I209F |
probably damaging |
Het |
| Map4k5 |
T |
A |
12: 69,870,275 (GRCm39) |
D523V |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,678,328 (GRCm39) |
P652L |
probably benign |
Het |
| Med30 |
G |
A |
15: 52,584,516 (GRCm39) |
V145I |
possibly damaging |
Het |
| Megf6 |
T |
A |
4: 154,326,860 (GRCm39) |
D163E |
probably damaging |
Het |
| Meltf |
T |
A |
16: 31,709,522 (GRCm39) |
|
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mppe1 |
T |
C |
18: 67,370,472 (GRCm39) |
D75G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,754,673 (GRCm38) |
P1516S |
probably benign |
Het |
| Myo3b |
C |
A |
2: 70,069,160 (GRCm39) |
F494L |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,298,688 (GRCm39) |
T226A |
probably benign |
Het |
| Nod1 |
A |
G |
6: 54,921,277 (GRCm39) |
V347A |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,019,235 (GRCm39) |
|
probably null |
Het |
| Nup210l |
A |
G |
3: 90,025,932 (GRCm39) |
R185G |
probably damaging |
Het |
| Oma1 |
T |
C |
4: 103,210,829 (GRCm39) |
L445S |
probably damaging |
Het |
| Or13p10 |
A |
T |
4: 118,523,502 (GRCm39) |
M263L |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,452 (GRCm39) |
M136K |
probably damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,770 (GRCm39) |
L82P |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,677 (GRCm38) |
F31I |
probably benign |
Het |
| Pdcd5 |
A |
T |
7: 35,346,795 (GRCm39) |
M1K |
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,740,615 (GRCm39) |
T2161A |
possibly damaging |
Het |
| Pla2g3 |
A |
T |
11: 3,442,151 (GRCm39) |
S404C |
probably null |
Het |
| Plec |
A |
G |
15: 76,078,560 (GRCm39) |
V60A |
unknown |
Het |
| Prpsap2 |
A |
G |
11: 61,643,736 (GRCm39) |
S66P |
possibly damaging |
Het |
| Rarb |
A |
G |
14: 16,436,804 (GRCm38) |
L239P |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,583,395 (GRCm39) |
Y2845* |
probably null |
Het |
| Spta1 |
T |
C |
1: 174,045,548 (GRCm39) |
C1569R |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,986,115 (GRCm39) |
S465L |
probably damaging |
Het |
| Tmub1 |
A |
T |
5: 24,651,680 (GRCm39) |
S80T |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,647,847 (GRCm39) |
F322S |
probably damaging |
Het |
| Vmn2r5 |
G |
A |
3: 64,411,203 (GRCm39) |
A455V |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,882 (GRCm39) |
N459K |
probably damaging |
Het |
| Wdr11 |
C |
T |
7: 129,207,437 (GRCm39) |
R300* |
probably null |
Het |
| Zfat |
A |
T |
15: 68,052,519 (GRCm39) |
V425D |
probably damaging |
Het |
| Zfp738 |
G |
A |
13: 67,817,910 (GRCm39) |
L694F |
|
Het |
| Zfp839 |
C |
T |
12: 110,835,277 (GRCm39) |
A844V |
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 |
|
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 |
|
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'- GTCTCTCAGCAGCAGACATTGTC -3'
(R):5'- TGACTCAGGCAACCTCTCTC -3'
Sequencing Primer
(F):5'- AGACATTGTCTGTGTGTGGC -3'
(R):5'- AGGCAACCTCTCTCCTCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation