Incidental Mutation 'R2168:Zer1'
ID |
235589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zer1
|
Ensembl Gene |
ENSMUSG00000039686 |
Gene Name |
zyg-11 related, cell cycle regulator |
Synonyms |
Zyg11bl, C230075L19Rik |
MMRRC Submission |
040171-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R2168 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29994887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 503
(C503R)
|
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: C516R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046441 Gene: ENSMUSG00000039686 AA Change: C516R
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: C503R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109307 Gene: ENSMUSG00000039686 AA Change: C503R
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
|
Meta Mutation Damage Score |
0.9475 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (62/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
T |
A |
2: 127,720,701 (GRCm39) |
I188N |
probably damaging |
Het |
Akr1c14 |
T |
C |
13: 4,131,106 (GRCm39) |
V266A |
probably damaging |
Het |
Als2cl |
C |
A |
9: 110,717,810 (GRCm39) |
P301H |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Catspere2 |
C |
T |
1: 177,843,477 (GRCm39) |
|
probably benign |
Het |
Cpsf1 |
A |
T |
15: 76,487,937 (GRCm39) |
N53K |
possibly damaging |
Het |
Ctsll3 |
C |
T |
13: 60,948,749 (GRCm39) |
G69R |
possibly damaging |
Het |
F2 |
C |
T |
2: 91,458,693 (GRCm39) |
R539Q |
probably damaging |
Het |
Fam78b |
G |
A |
1: 166,906,219 (GRCm39) |
G126D |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,568,120 (GRCm39) |
I1332V |
possibly damaging |
Het |
Flg2 |
C |
T |
3: 93,109,244 (GRCm39) |
S424L |
probably damaging |
Het |
Fpr1 |
T |
C |
17: 18,097,471 (GRCm39) |
T173A |
possibly damaging |
Het |
Gas2l3 |
A |
G |
10: 89,249,960 (GRCm39) |
V386A |
probably benign |
Het |
Gdap2 |
A |
C |
3: 100,095,199 (GRCm39) |
E269A |
probably benign |
Het |
Igf2bp2 |
T |
A |
16: 21,898,358 (GRCm39) |
|
probably null |
Het |
Ipo11 |
T |
C |
13: 107,016,118 (GRCm39) |
|
probably null |
Het |
Itpr2 |
G |
T |
6: 146,013,176 (GRCm39) |
P2667Q |
probably benign |
Het |
Itsn2 |
G |
T |
12: 4,683,044 (GRCm39) |
|
probably benign |
Het |
Jakmip2 |
A |
G |
18: 43,698,995 (GRCm39) |
L488P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,265,858 (GRCm39) |
C248S |
probably damaging |
Het |
Lrrc17 |
A |
T |
5: 21,780,046 (GRCm39) |
D340V |
probably damaging |
Het |
Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,249,015 (GRCm39) |
S184P |
possibly damaging |
Het |
Msh4 |
A |
T |
3: 153,573,472 (GRCm39) |
Y533* |
probably null |
Het |
Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
Nectin2 |
G |
T |
7: 19,464,539 (GRCm39) |
S288R |
probably damaging |
Het |
Neurog2 |
A |
T |
3: 127,427,754 (GRCm39) |
H126L |
probably damaging |
Het |
Nol10 |
A |
T |
12: 17,423,585 (GRCm39) |
E310V |
probably damaging |
Het |
Or1f12 |
T |
G |
13: 21,721,422 (GRCm39) |
K251T |
probably damaging |
Het |
Or4c29 |
A |
G |
2: 88,740,522 (GRCm39) |
S72P |
probably damaging |
Het |
Or51h7 |
A |
T |
7: 102,591,678 (GRCm39) |
F35L |
probably benign |
Het |
Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
Pcdhb7 |
T |
A |
18: 37,476,335 (GRCm39) |
F490L |
probably benign |
Het |
Pcsk1 |
T |
A |
13: 75,260,653 (GRCm39) |
|
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,306,339 (GRCm39) |
D577V |
probably damaging |
Het |
Prrc2c |
C |
A |
1: 162,537,903 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Pzp |
G |
A |
6: 128,465,010 (GRCm39) |
T1288M |
probably damaging |
Het |
Radil |
A |
C |
5: 142,492,718 (GRCm39) |
H63Q |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,078,422 (GRCm39) |
S829P |
probably benign |
Het |
Rd3 |
A |
G |
1: 191,715,488 (GRCm39) |
I88V |
probably damaging |
Het |
Rfesd |
T |
C |
13: 76,156,244 (GRCm39) |
D54G |
probably damaging |
Het |
Rnf213 |
A |
C |
11: 119,305,896 (GRCm39) |
K568T |
probably damaging |
Het |
Scaper |
T |
A |
9: 55,650,923 (GRCm39) |
K913N |
probably damaging |
Het |
Serpina3c |
T |
C |
12: 104,115,628 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
A |
T |
13: 33,850,357 (GRCm39) |
K61N |
probably benign |
Het |
Skint4 |
A |
T |
4: 111,944,183 (GRCm39) |
|
probably null |
Het |
Sod1 |
T |
C |
16: 90,017,801 (GRCm39) |
I19T |
possibly damaging |
Het |
Stfa3 |
C |
A |
16: 36,271,042 (GRCm39) |
G81* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,256,917 (GRCm39) |
N1106Y |
probably damaging |
Het |
Vmn1r217 |
G |
A |
13: 23,298,714 (GRCm39) |
Q63* |
probably null |
Het |
Vmn2r129 |
A |
T |
4: 156,690,673 (GRCm39) |
|
noncoding transcript |
Het |
Vps13b |
C |
A |
15: 35,792,334 (GRCm39) |
P2201T |
probably damaging |
Het |
Vps13b |
C |
A |
15: 35,792,335 (GRCm39) |
P2201Q |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,813,893 (GRCm39) |
|
probably benign |
Het |
Zfp369 |
T |
C |
13: 65,444,762 (GRCm39) |
V635A |
probably benign |
Het |
Zfp608 |
A |
T |
18: 55,031,125 (GRCm39) |
Y938* |
probably null |
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 |
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 |
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'- CAGAGATGCACTTCCTTGGG -3'
(R):5'- ACCTGGAGTCCTGTCCCAAATC -3'
Sequencing Primer
(F):5'- AGAGATGCACTTCCTTGGGTCTAC -3'
(R):5'- AAATCTGTCCCTGAACGTGC -3'
|
Posted On |
2014-10-01 |