Incidental Mutation 'R5936:Zer1'
| ID |
462234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
044130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R5936 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29997679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 409
(L409P)
|
| 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: L409P
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: L409P
| 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 |
possibly damaging
Transcript: ENSMUST00000113677
AA Change: L396P
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: L396P
| 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: ENSMUST00000154231
|
| Meta Mutation Damage Score |
0.7252 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
91% (77/85) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,848 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,362 (GRCm39) |
T64A |
probably benign |
Het |
| Afap1 |
A |
G |
5: 36,131,740 (GRCm39) |
N356D |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,832 (GRCm39) |
D301G |
probably damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,591 (GRCm39) |
T139M |
probably damaging |
Het |
| Ankrd46 |
T |
C |
15: 36,479,428 (GRCm39) |
D221G |
probably benign |
Het |
| Ano6 |
T |
A |
15: 95,870,482 (GRCm39) |
L900H |
probably damaging |
Het |
| Asphd2 |
G |
A |
5: 112,533,623 (GRCm39) |
R343* |
probably null |
Het |
| Atosa |
T |
C |
9: 74,916,586 (GRCm39) |
L395P |
probably benign |
Het |
| Brdt |
A |
G |
5: 107,507,261 (GRCm39) |
T554A |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,893,271 (GRCm39) |
V401A |
possibly damaging |
Het |
| Cbs |
T |
C |
17: 31,844,068 (GRCm39) |
T188A |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,798,274 (GRCm39) |
T1662S |
probably benign |
Het |
| Chka |
A |
G |
19: 3,934,580 (GRCm39) |
I205V |
probably benign |
Het |
| Chsy1 |
T |
A |
7: 65,822,025 (GRCm39) |
N753K |
possibly damaging |
Het |
| Cpz |
A |
G |
5: 35,659,987 (GRCm39) |
S553P |
probably benign |
Het |
| Crtac1 |
A |
G |
19: 42,312,276 (GRCm39) |
Y146H |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,258,880 (GRCm39) |
I700F |
probably damaging |
Het |
| Ddx20 |
C |
A |
3: 105,587,903 (GRCm39) |
E392D |
possibly damaging |
Het |
| Dhrs11 |
G |
T |
11: 84,716,350 (GRCm39) |
Y67* |
probably null |
Het |
| Diaph3 |
G |
T |
14: 87,009,552 (GRCm39) |
Q1076K |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,418,565 (GRCm39) |
L2037* |
probably null |
Het |
| Dst |
G |
T |
1: 34,346,539 (GRCm39) |
V5336L |
probably damaging |
Het |
| Etv1 |
C |
A |
12: 38,885,209 (GRCm39) |
H248Q |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,786,117 (GRCm39) |
V518A |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,840,908 (GRCm39) |
L139S |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,231,058 (GRCm39) |
T270S |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,892 (GRCm39) |
E375G |
probably damaging |
Het |
| Firrm |
T |
G |
1: 163,814,581 (GRCm39) |
I121L |
probably benign |
Het |
| Gabarapl1 |
T |
A |
6: 129,515,566 (GRCm39) |
I68N |
probably benign |
Het |
| Gopc |
C |
T |
10: 52,222,295 (GRCm39) |
V30M |
probably damaging |
Het |
| Hbp1 |
T |
C |
12: 31,987,095 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
G |
2: 180,872,560 (GRCm39) |
V2480A |
probably damaging |
Het |
| Igfbp3 |
T |
A |
11: 7,159,472 (GRCm39) |
Y247F |
probably damaging |
Het |
| Kbtbd11 |
C |
A |
8: 15,077,534 (GRCm39) |
S44R |
probably benign |
Het |
| Kcnk10 |
G |
T |
12: 98,456,191 (GRCm39) |
S213R |
probably benign |
Het |
| Kcnq3 |
T |
A |
15: 65,871,959 (GRCm39) |
D570V |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,819,850 (GRCm39) |
F1594S |
possibly damaging |
Het |
| Klf3 |
A |
G |
5: 64,980,303 (GRCm39) |
D31G |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,166,369 (GRCm39) |
K59E |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,039 (GRCm39) |
T484A |
probably damaging |
Het |
| Nlrp6 |
T |
A |
7: 140,502,725 (GRCm39) |
L277* |
probably null |
Het |
| Nr5a1 |
G |
T |
2: 38,591,790 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
C |
T |
4: 6,421,017 (GRCm39) |
|
probably benign |
Het |
| Or4f58 |
T |
A |
2: 111,851,932 (GRCm39) |
H89L |
probably benign |
Het |
| Orc1 |
A |
G |
4: 108,459,180 (GRCm39) |
T450A |
probably benign |
Het |
| Pacsin1 |
A |
T |
17: 27,923,971 (GRCm39) |
I122F |
probably benign |
Het |
| Pced1b |
T |
A |
15: 97,283,061 (GRCm39) |
Y367N |
possibly damaging |
Het |
| Pced1b |
T |
A |
15: 97,283,063 (GRCm39) |
Y367* |
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,312,203 (GRCm39) |
F281L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,828,142 (GRCm39) |
V714A |
probably benign |
Het |
| Plcd3 |
C |
T |
11: 102,969,173 (GRCm39) |
V265M |
probably damaging |
Het |
| Ppp1r1c |
A |
T |
2: 79,586,798 (GRCm39) |
E48V |
possibly damaging |
Het |
| Prl2b1 |
T |
G |
13: 27,572,432 (GRCm39) |
T53P |
probably damaging |
Het |
| Ptch2 |
T |
G |
4: 116,965,491 (GRCm39) |
F359V |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,307,681 (GRCm39) |
S314N |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,813,642 (GRCm39) |
S1043C |
probably damaging |
Het |
| Rtn4rl2 |
A |
T |
2: 84,710,775 (GRCm39) |
L163Q |
probably damaging |
Het |
| Sarnp |
T |
A |
10: 128,684,640 (GRCm39) |
S129T |
probably benign |
Het |
| Scube3 |
A |
T |
17: 28,384,461 (GRCm39) |
K585M |
probably damaging |
Het |
| Sgk3 |
C |
T |
1: 9,956,045 (GRCm39) |
|
probably benign |
Het |
| Skint6 |
C |
T |
4: 112,953,790 (GRCm39) |
S458N |
probably benign |
Het |
| Slc25a54 |
A |
G |
3: 109,005,954 (GRCm39) |
H154R |
possibly damaging |
Het |
| Sorbs1 |
A |
C |
19: 40,313,216 (GRCm39) |
I690S |
probably damaging |
Het |
| Sqle |
C |
A |
15: 59,202,678 (GRCm39) |
A512D |
probably damaging |
Het |
| Tedc2 |
A |
C |
17: 24,435,315 (GRCm39) |
L358R |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,585,268 (GRCm39) |
S767G |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,854,133 (GRCm39) |
E27G |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 21,007,745 (GRCm39) |
F123L |
probably damaging |
Het |
| Ube3d |
C |
T |
9: 86,254,512 (GRCm39) |
G323D |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,485,774 (GRCm39) |
H1642L |
probably damaging |
Het |
| Vmn1r10 |
A |
T |
6: 57,091,302 (GRCm39) |
H298L |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,880,956 (GRCm39) |
Y26N |
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,382,332 (GRCm39) |
L256Q |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,355,902 (GRCm39) |
E376G |
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 |
|
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'- ATACTGGGCCTAAGCATGC -3'
(R):5'- GGGAACAGGTAGTCTTGCCTTG -3'
Sequencing Primer
(F):5'- CTAAGCATGCAGGCCGC -3'
(R):5'- GCAAACCTCCGCCCTTTGG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation