Incidental Mutation 'R9050:Zer1'
| ID |
688280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
068876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R9050 (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 T
at 30001294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 70
(F70Y)
|
| 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: F70Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: F70Y
| 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: F70Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: F70Y
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
96% (53/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,208,605 (GRCm39) |
Y332H |
probably benign |
Het |
| Apoc3 |
A |
G |
9: 46,144,592 (GRCm39) |
F77L |
probably benign |
Het |
| Atp5f1c |
A |
T |
2: 10,069,049 (GRCm39) |
D99E |
probably damaging |
Het |
| Atxn3 |
A |
T |
12: 101,924,387 (GRCm39) |
|
probably benign |
Het |
| Calcoco1 |
A |
G |
15: 102,618,400 (GRCm39) |
V463A |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,248,617 (GRCm39) |
T20A |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,883,133 (GRCm39) |
D1256G |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,738,687 (GRCm39) |
D2385E |
possibly damaging |
Het |
| Clec9a |
G |
C |
6: 129,396,561 (GRCm39) |
A170P |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,697,691 (GRCm39) |
G871S |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,635,099 (GRCm39) |
S159P |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,798,659 (GRCm39) |
F272L |
probably benign |
Het |
| Glp1r |
G |
A |
17: 31,137,892 (GRCm39) |
G108S |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
| Hps5 |
T |
C |
7: 46,422,607 (GRCm39) |
D574G |
probably benign |
Het |
| Il7 |
A |
G |
3: 7,669,170 (GRCm39) |
V22A |
possibly damaging |
Het |
| Kmt5c |
A |
G |
7: 4,745,281 (GRCm39) |
T91A |
probably benign |
Het |
| Mrpl39 |
A |
C |
16: 84,531,844 (GRCm39) |
|
probably benign |
Het |
| Mtr |
T |
C |
13: 12,231,748 (GRCm39) |
D652G |
probably null |
Het |
| Neb |
C |
T |
2: 52,079,901 (GRCm39) |
V5768M |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nicol1 |
G |
C |
5: 34,140,874 (GRCm39) |
A29P |
unknown |
Het |
| Nmrk1 |
T |
A |
19: 18,618,539 (GRCm39) |
M74K |
probably benign |
Het |
| Obox8 |
A |
G |
7: 14,066,870 (GRCm39) |
L58P |
unknown |
Het |
| Oga |
T |
C |
19: 45,756,354 (GRCm39) |
T430A |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,590,820 (GRCm39) |
Y164H |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,150 (GRCm39) |
|
probably benign |
Het |
| Or2y1e |
T |
C |
11: 49,218,930 (GRCm39) |
S231P |
possibly damaging |
Het |
| Or5p62 |
A |
C |
7: 107,771,087 (GRCm39) |
L288W |
probably damaging |
Het |
| Pcdhb17 |
T |
G |
18: 37,620,286 (GRCm39) |
V692G |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,882,567 (GRCm39) |
V829A |
probably benign |
Het |
| Pramel24 |
A |
T |
4: 143,453,329 (GRCm39) |
T146S |
probably benign |
Het |
| Pth |
A |
G |
7: 112,985,043 (GRCm39) |
V110A |
probably benign |
Het |
| Rabggta |
T |
A |
14: 55,959,056 (GRCm39) |
Q37L |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,335,738 (GRCm39) |
T550A |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,906,161 (GRCm39) |
V785I |
possibly damaging |
Het |
| Sec24d |
T |
C |
3: 123,144,374 (GRCm39) |
V617A |
probably benign |
Het |
| Slc47a1 |
T |
C |
11: 61,235,160 (GRCm39) |
I558V |
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,252,516 (GRCm39) |
M560L |
possibly damaging |
Het |
| Slfn9 |
G |
A |
11: 82,879,120 (GRCm39) |
T3I |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,935,294 (GRCm39) |
H35R |
probably damaging |
Het |
| Spats2 |
G |
T |
15: 99,110,010 (GRCm39) |
R469L |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
C |
T |
3: 146,144,512 (GRCm39) |
S592L |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,944,228 (GRCm39) |
T545A |
probably benign |
Het |
| Suz12 |
C |
T |
11: 79,913,023 (GRCm39) |
L379F |
probably damaging |
Het |
| Tbc1d24 |
C |
A |
17: 24,404,899 (GRCm39) |
V82L |
probably benign |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,898 (GRCm39) |
V82E |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,736,629 (GRCm39) |
I884T |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,549,786 (GRCm39) |
E542* |
probably null |
Het |
| Togaram2 |
T |
C |
17: 72,007,878 (GRCm39) |
L401P |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,637,319 (GRCm39) |
N115K |
probably benign |
Het |
| Tubgcp4 |
G |
A |
2: 121,004,079 (GRCm39) |
S40N |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,833,021 (GRCm39) |
D157G |
probably damaging |
Het |
| Zfp791 |
T |
C |
8: 85,837,334 (GRCm39) |
I177V |
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 |
|
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 |
|
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'- ACAGCAGTCTCAACTCCTCTG -3'
(R):5'- TCACCCTGAAGACCACCTTTAG -3'
Sequencing Primer
(F):5'- CTCTGCCTGCCCTGAGC -3'
(R):5'- CCTATGGATAGTCAGAGTCTAAGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation