Incidental Mutation 'R2255:Zer1'
| ID |
241911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
040255-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R2255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29998286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 342
(L342F)
|
| 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: L342F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: L342F
| 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: L329F
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: L329F
| 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: ENSMUST00000154231
|
| Meta Mutation Damage Score |
0.2861 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
A |
17: 46,616,561 (GRCm39) |
T1210I |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 76,071,932 (GRCm39) |
F581S |
probably damaging |
Het |
| Ambra1 |
A |
T |
2: 91,747,806 (GRCm39) |
N1061Y |
probably damaging |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,891 (GRCm39) |
R272H |
possibly damaging |
Het |
| Arl6ip5 |
T |
C |
6: 97,209,361 (GRCm39) |
L132S |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,125,207 (GRCm39) |
V1058I |
probably damaging |
Het |
| B3gnt4 |
A |
C |
5: 123,649,342 (GRCm39) |
I236L |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,832,815 (GRCm39) |
I310N |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,060,143 (GRCm39) |
L535* |
probably null |
Het |
| Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
| Catip |
T |
C |
1: 74,408,159 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,921,996 (GRCm39) |
S1023R |
probably damaging |
Het |
| Ces2g |
G |
A |
8: 105,694,046 (GRCm39) |
E461K |
probably damaging |
Het |
| Chad |
C |
A |
11: 94,456,523 (GRCm39) |
H200Q |
possibly damaging |
Het |
| Crbn |
C |
T |
6: 106,772,159 (GRCm39) |
|
probably null |
Het |
| Crip3 |
G |
C |
17: 46,740,298 (GRCm39) |
E33Q |
probably damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,040,894 (GRCm39) |
R105S |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 49,979,706 (GRCm39) |
H114Y |
probably benign |
Het |
| Dpp3 |
T |
C |
19: 4,968,347 (GRCm39) |
N242D |
probably benign |
Het |
| Dtx3l |
T |
C |
16: 35,756,949 (GRCm39) |
N78S |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 6,955,905 (GRCm39) |
|
probably null |
Het |
| Esrp1 |
A |
G |
4: 11,365,211 (GRCm39) |
V260A |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,511,349 (GRCm39) |
V544A |
probably benign |
Het |
| Ezhip |
T |
G |
X: 5,994,754 (GRCm39) |
E87A |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,193,233 (GRCm39) |
H255N |
possibly damaging |
Het |
| Fcrl2 |
G |
T |
3: 87,164,655 (GRCm39) |
Y290* |
probably null |
Het |
| Frem2 |
A |
G |
3: 53,559,935 (GRCm39) |
V1524A |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,382,758 (GRCm39) |
I817T |
probably damaging |
Het |
| Gapdhs |
G |
C |
7: 30,429,333 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
A |
G |
3: 36,074,099 (GRCm39) |
V350A |
probably benign |
Het |
| Gopc |
A |
T |
10: 52,225,181 (GRCm39) |
I356K |
probably damaging |
Het |
| Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,628 (GRCm39) |
V49A |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,554,857 (GRCm39) |
N1634K |
probably damaging |
Het |
| Gria1 |
G |
A |
11: 57,076,775 (GRCm39) |
R57H |
probably damaging |
Het |
| Herpud1 |
A |
G |
8: 95,121,241 (GRCm39) |
E344G |
probably benign |
Het |
| Hhip |
A |
G |
8: 80,771,810 (GRCm39) |
F167L |
probably damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,953,209 (GRCm39) |
D84E |
probably damaging |
Het |
| Ier3 |
A |
G |
17: 36,133,153 (GRCm39) |
Y145C |
probably damaging |
Het |
| Ifi47 |
A |
T |
11: 48,987,474 (GRCm39) |
I414L |
probably benign |
Het |
| Ifnl2 |
C |
T |
7: 28,209,638 (GRCm39) |
A50T |
possibly damaging |
Het |
| Jade1 |
A |
G |
3: 41,546,185 (GRCm39) |
Y70C |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,359,454 (GRCm39) |
F94L |
probably damaging |
Het |
| Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,523 (GRCm39) |
L26S |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
| Nae1 |
T |
A |
8: 105,256,700 (GRCm39) |
D69V |
probably damaging |
Het |
| Nbr1 |
T |
A |
11: 101,463,643 (GRCm39) |
V625E |
possibly damaging |
Het |
| Nek1 |
T |
C |
8: 61,542,807 (GRCm39) |
L702P |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,078,689 (GRCm39) |
*272W |
probably null |
Het |
| Ofcc1 |
A |
C |
13: 40,248,181 (GRCm39) |
L651R |
probably damaging |
Het |
| Olfm3 |
A |
T |
3: 114,915,842 (GRCm39) |
|
probably null |
Het |
| Pcdhb19 |
C |
T |
18: 37,630,997 (GRCm39) |
A264V |
probably benign |
Het |
| Pear1 |
C |
A |
3: 87,659,493 (GRCm39) |
W780C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,635,863 (GRCm39) |
H489L |
probably benign |
Het |
| Pros1 |
T |
A |
16: 62,723,935 (GRCm39) |
C228S |
possibly damaging |
Het |
| Rbm10 |
G |
A |
X: 20,501,978 (GRCm39) |
R9H |
unknown |
Het |
| Rwdd1 |
T |
C |
10: 33,878,466 (GRCm39) |
E123G |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,818,062 (GRCm39) |
V213F |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,004,991 (GRCm39) |
I412T |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,748,438 (GRCm39) |
I98L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,595,203 (GRCm39) |
E394G |
probably damaging |
Het |
| Spdef |
T |
C |
17: 27,939,269 (GRCm39) |
T26A |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,815,731 (GRCm39) |
I23V |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,225,818 (GRCm39) |
I56T |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
| Tex46 |
T |
C |
4: 136,337,844 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Unc5cl |
T |
A |
17: 48,766,974 (GRCm39) |
I116N |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,657,417 (GRCm39) |
I1630F |
possibly damaging |
Het |
| Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
| Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
| Whrn |
C |
T |
4: 63,336,385 (GRCm39) |
V295M |
possibly damaging |
Het |
| Wrn |
G |
A |
8: 33,819,230 (GRCm39) |
P241S |
probably benign |
Het |
| Zfp687 |
A |
T |
3: 94,917,748 (GRCm39) |
C675S |
probably damaging |
Het |
| Zfp954 |
A |
G |
7: 7,118,321 (GRCm39) |
Y408H |
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 |
|
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 |
|
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'- TGATGGCCCTGGATGTGATC -3'
(R):5'- CAGGGAATGCAGCTCAAGTG -3'
Sequencing Primer
(F):5'- CTGGATGTGATCTCGGGCC -3'
(R):5'- AGAAGCATGTGCCTGTATCC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation