Incidental Mutation 'R9577:Zer1'
| ID |
722337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R9577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29991050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 726
(Y726C)
|
| 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: Y726C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: Y726C
| 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: Y713C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: Y713C
| 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 |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
G |
T |
18: 24,608,663 (GRCm39) |
A128S |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,810,768 (GRCm39) |
Y116H |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Ankar |
C |
A |
1: 72,721,067 (GRCm39) |
V464L |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,769,060 (GRCm39) |
I1526N |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,004,996 (GRCm39) |
N1144K |
probably damaging |
Het |
| B3gntl1 |
T |
C |
11: 121,515,040 (GRCm39) |
T243A |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,809,031 (GRCm39) |
T73A |
probably benign |
Het |
| Bnip5 |
A |
T |
17: 29,128,382 (GRCm39) |
I177K |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,906,876 (GRCm39) |
S148G |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,603,335 (GRCm39) |
D332G |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,242,344 (GRCm39) |
T531S |
probably damaging |
Het |
| Ccdc71 |
C |
T |
9: 108,340,472 (GRCm39) |
A95V |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,895 (GRCm39) |
V2787A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,964 (GRCm39) |
E487G |
unknown |
Het |
| Col22a1 |
T |
C |
15: 71,837,595 (GRCm39) |
K505R |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 139,018,196 (GRCm39) |
V180A |
|
Het |
| Dmxl2 |
A |
G |
9: 54,323,664 (GRCm39) |
V1066A |
unknown |
Het |
| Dnah9 |
C |
T |
11: 65,867,347 (GRCm39) |
V2744M |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,376,439 (GRCm39) |
R384L |
possibly damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,907,743 (GRCm39) |
Y134* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,194,470 (GRCm39) |
P57S |
unknown |
Het |
| Gm6309 |
T |
C |
5: 146,105,700 (GRCm39) |
R155G |
possibly damaging |
Het |
| Gnpda1 |
T |
C |
18: 38,463,605 (GRCm39) |
T235A |
probably benign |
Het |
| Gsdmc2 |
T |
A |
15: 63,696,906 (GRCm39) |
I422F |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,502,798 (GRCm39) |
V256A |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
C |
1: 136,399,138 (GRCm39) |
V433A |
probably benign |
Het |
| Kif3a |
T |
C |
11: 53,475,231 (GRCm39) |
F363S |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,467,490 (GRCm39) |
D186G |
probably damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,790,990 (GRCm39) |
T448A |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,814,282 (GRCm39) |
A898V |
probably damaging |
Het |
| Mri1 |
A |
G |
8: 84,982,929 (GRCm39) |
V164A |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Nxpe2 |
G |
A |
9: 48,237,632 (GRCm39) |
R208* |
probably null |
Het |
| Or1j1 |
C |
A |
2: 36,702,567 (GRCm39) |
C179F |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,737 (GRCm39) |
V77A |
possibly damaging |
Het |
| Pcdha12 |
C |
T |
18: 37,155,126 (GRCm39) |
A615V |
probably benign |
Het |
| Pou4f3 |
C |
G |
18: 42,528,563 (GRCm39) |
P169A |
probably benign |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,805 (GRCm39) |
R230* |
probably null |
Het |
| Prss36 |
T |
C |
7: 127,533,673 (GRCm39) |
I556V |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,346,067 (GRCm39) |
D209E |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,676,675 (GRCm39) |
D679E |
probably damaging |
Het |
| Ptprz1 |
G |
T |
6: 23,002,202 (GRCm39) |
D1431Y |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,658,629 (GRCm39) |
L143M |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,357,612 (GRCm39) |
Q721R |
probably benign |
Het |
| Spdye4b |
A |
G |
5: 143,182,055 (GRCm39) |
M118V |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,473,699 (GRCm39) |
S741T |
possibly damaging |
Het |
| Tbx18 |
A |
G |
9: 87,611,512 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
C |
2: 153,037,294 (GRCm39) |
F385S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,954,432 (GRCm39) |
L1133* |
probably null |
Het |
| Trpm5 |
A |
G |
7: 142,633,131 (GRCm39) |
|
probably null |
Het |
| Ube4b |
A |
G |
4: 149,468,231 (GRCm39) |
S182P |
possibly damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,228,784 (GRCm39) |
T420A |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Zc3h6 |
T |
A |
2: 128,858,102 (GRCm39) |
I711K |
|
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 |
|
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 |
|
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'- TGACTGTGGTAACCAGCCAG -3'
(R):5'- TTGCCCATGCTGCCTTTAGG -3'
Sequencing Primer
(F):5'- GACTGGGAAGTTCACTGGC -3'
(R):5'- CTTTAGGACCCTGCATGGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation