Incidental Mutation 'R8842:Zer1'
| ID |
674459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
068669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R8842 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30001062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 120
(S120G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044751]
[ENSMUST00000113677]
|
| AlphaFold |
Q80ZJ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044751
AA Change: S120G
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: S120G
| 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 |
possibly damaging
Transcript: ENSMUST00000113677
AA Change: S120G
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: S120G
| 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: 99.1%
- 20x: 96.1%
|
| Validation Efficiency |
100% (50/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap17 |
G |
A |
7: 122,893,750 (GRCm39) |
P557S |
probably benign |
Het |
| Atad5 |
G |
T |
11: 80,000,910 (GRCm39) |
D1014Y |
possibly damaging |
Het |
| Bmp6 |
T |
A |
13: 38,530,359 (GRCm39) |
S151T |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,682,795 (GRCm39) |
Q459* |
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,880,612 (GRCm39) |
Y452H |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,780,329 (GRCm39) |
Y961H |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,655,166 (GRCm39) |
Y852N |
probably damaging |
Het |
| Cpne8 |
A |
G |
15: 90,456,218 (GRCm39) |
I156T |
probably benign |
Het |
| Cul1 |
T |
A |
6: 47,492,010 (GRCm39) |
L430Q |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,914,296 (GRCm39) |
S1031P |
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,338,335 (GRCm39) |
F774I |
possibly damaging |
Het |
| Fezf2 |
A |
C |
14: 12,345,079 (GRCm38) |
M36R |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,312,576 (GRCm39) |
I320L |
probably benign |
Het |
| Gemin6 |
T |
A |
17: 80,533,115 (GRCm39) |
V16D |
possibly damaging |
Het |
| Gpr158 |
T |
A |
2: 21,581,751 (GRCm39) |
V410D |
possibly damaging |
Het |
| H2-DMb2 |
C |
T |
17: 34,366,904 (GRCm39) |
T112M |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,990,033 (GRCm39) |
T114A |
|
Het |
| Herc2 |
G |
T |
7: 55,738,059 (GRCm39) |
R234L |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,243 (GRCm39) |
I46V |
probably benign |
Het |
| Izumo1r |
C |
T |
9: 14,813,705 (GRCm39) |
G38S |
possibly damaging |
Het |
| Katna1 |
A |
G |
10: 7,614,600 (GRCm39) |
D36G |
probably benign |
Het |
| Kdm1b |
G |
T |
13: 47,231,832 (GRCm39) |
R697L |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,338,196 (GRCm39) |
I483F |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,158,417 (GRCm39) |
T1714I |
|
Het |
| Man2a2 |
A |
G |
7: 80,003,067 (GRCm39) |
L1014P |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,935,169 (GRCm39) |
E1533G |
probably damaging |
Het |
| Mfsd2a |
A |
T |
4: 122,845,623 (GRCm39) |
I176N |
probably damaging |
Het |
| Mterf1b |
T |
A |
5: 4,246,961 (GRCm39) |
F201I |
possibly damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,507 (GRCm39) |
E219G |
probably damaging |
Het |
| Nln |
T |
C |
13: 104,209,486 (GRCm39) |
E29G |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,892,861 (GRCm39) |
T6795M |
possibly damaging |
Het |
| Or1e1c |
G |
T |
11: 73,266,186 (GRCm39) |
V207F |
probably benign |
Het |
| Or1i2 |
A |
G |
10: 78,447,635 (GRCm39) |
V280A |
possibly damaging |
Het |
| Or1n1 |
C |
A |
2: 36,749,539 (GRCm39) |
A274S |
probably benign |
Het |
| Or4c118 |
C |
T |
2: 88,975,074 (GRCm39) |
V98I |
probably benign |
Het |
| Otog |
A |
T |
7: 45,895,948 (GRCm39) |
I138F |
probably damaging |
Het |
| Pdcd2l |
G |
A |
7: 33,884,192 (GRCm39) |
Q337* |
probably null |
Het |
| Ptprk |
A |
T |
10: 28,442,497 (GRCm39) |
N859I |
probably damaging |
Het |
| Pygl |
G |
T |
12: 70,274,368 (GRCm39) |
|
probably benign |
Het |
| Sema4d |
C |
T |
13: 51,863,018 (GRCm39) |
A447T |
probably benign |
Het |
| Slc27a6 |
A |
T |
18: 58,712,888 (GRCm39) |
S237C |
probably benign |
Het |
| Smarcc1 |
G |
A |
9: 110,051,199 (GRCm39) |
M1006I |
possibly damaging |
Het |
| Sult2a2 |
G |
T |
7: 13,472,192 (GRCm39) |
G130C |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,663,131 (GRCm39) |
H1039L |
probably benign |
Het |
| Wdr64 |
T |
G |
1: 175,599,893 (GRCm39) |
N573K |
probably benign |
Het |
| Zbtb48 |
T |
C |
4: 152,104,496 (GRCm39) |
I611V |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
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 |
|
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 |
|
|
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'- ATACCGTCAATCATGCGGCC -3'
(R):5'- ACACGAGACTTTCTTCAGCC -3'
Sequencing Primer
(F):5'- AATCATGCGGCCCAGGTTG -3'
(R):5'- AGTACTCGGCTCACTCGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation