Incidental Mutation 'PIT4495001:Zer1'
| ID |
555947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
PIT4495001 (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 29993555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 551
(K551R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044751]
[ENSMUST00000113677]
|
| AlphaFold |
Q80ZJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044751
AA Change: K551R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: K551R
| 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 benign
Transcript: ENSMUST00000113677
AA Change: K538R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: K538R
| 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: 93.1%
- 3x: 90.6%
- 10x: 84.0%
- 20x: 69.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
A |
1: 156,460,755 (GRCm39) |
V384D |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,056,675 (GRCm39) |
E248G |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,997,391 (GRCm39) |
T1162A |
probably benign |
Het |
| Ank3 |
C |
A |
10: 69,828,902 (GRCm39) |
H2524N |
|
Het |
| Aoc1l3 |
A |
T |
6: 48,964,710 (GRCm39) |
E239D |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,436,943 (GRCm39) |
N60K |
probably damaging |
Het |
| Cfap43 |
A |
C |
19: 47,885,741 (GRCm39) |
C291W |
probably damaging |
Het |
| Cobl |
G |
A |
11: 12,204,596 (GRCm39) |
T702I |
probably benign |
Het |
| Col5a1 |
C |
A |
2: 27,914,788 (GRCm39) |
Q1624K |
unknown |
Het |
| Cubn |
T |
A |
2: 13,496,561 (GRCm39) |
T22S |
probably benign |
Het |
| Def8 |
A |
C |
8: 124,186,292 (GRCm39) |
M344L |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,523,466 (GRCm39) |
T450A |
probably benign |
Het |
| Gm11214 |
G |
A |
4: 63,580,922 (GRCm39) |
L76F |
probably benign |
Het |
| Gm5797 |
T |
C |
14: 7,329,530 (GRCm38) |
T153A |
probably benign |
Het |
| Gsk3a |
A |
C |
7: 24,935,064 (GRCm39) |
S129A |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,652,033 (GRCm39) |
Q830R |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,475,665 (GRCm39) |
V750I |
probably benign |
Het |
| Mlh1 |
T |
A |
9: 111,076,328 (GRCm39) |
Y343F |
probably benign |
Het |
| Myb |
C |
T |
10: 21,028,521 (GRCm39) |
R114H |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,102,748 (GRCm39) |
D4508E |
probably benign |
Het |
| Nell2 |
T |
C |
15: 95,281,608 (GRCm39) |
D366G |
probably benign |
Het |
| Or1o3 |
A |
C |
17: 37,573,721 (GRCm39) |
V278G |
possibly damaging |
Het |
| Or4d6 |
A |
G |
19: 12,086,076 (GRCm39) |
I52T |
possibly damaging |
Het |
| Or5ac25 |
A |
C |
16: 59,181,871 (GRCm39) |
F237V |
probably damaging |
Het |
| Or5h26 |
G |
T |
16: 58,988,337 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or7a38 |
T |
C |
10: 78,752,821 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhgc5 |
C |
T |
18: 37,954,030 (GRCm39) |
H435Y |
possibly damaging |
Het |
| Pira12 |
A |
T |
7: 3,900,457 (GRCm39) |
C98S |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,932,151 (GRCm39) |
D935E |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,451,780 (GRCm39) |
E874G |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,416,565 (GRCm39) |
I158R |
probably benign |
Het |
| Pzp |
C |
A |
6: 128,479,192 (GRCm39) |
V654L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,808,405 (GRCm39) |
T454A |
probably damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,593,343 (GRCm39) |
S419I |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,335,295 (GRCm39) |
D402G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,370 (GRCm39) |
H759R |
probably damaging |
Het |
| Rlig1 |
A |
T |
10: 100,419,812 (GRCm39) |
F90I |
probably damaging |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Sf3a3 |
C |
T |
4: 124,622,113 (GRCm39) |
P391L |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,970,401 (GRCm39) |
I379K |
possibly damaging |
Het |
| Syt5 |
A |
C |
7: 4,544,077 (GRCm39) |
|
probably null |
Het |
| Tex47 |
A |
G |
5: 7,355,011 (GRCm39) |
D64G |
probably benign |
Het |
| Zbbx |
C |
A |
3: 74,968,944 (GRCm39) |
W509L |
probably 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 |
|
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 |
|
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'- CATCTCGCAGTTGTCAGGTGTC -3'
(R):5'- TAGCAGAGAAGCACTGTGAC -3'
Sequencing Primer
(F):5'- CGCAGTTGTCAGGTGTCTCATC -3'
(R):5'- ACAAGTGTGTCCCCAGGTGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation