Incidental Mutation 'R2092:Zer1'
| ID |
231810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zer1
|
| Ensembl Gene |
ENSMUSG00000039686 |
| Gene Name |
zyg-11 related, cell cycle regulator |
| Synonyms |
Zyg11bl, C230075L19Rik |
| MMRRC Submission |
040097-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R2092 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29987295-30014597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29998286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 342
(L342F)
|
| 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: L342F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: L342F
| 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: L329F
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: L329F
| 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: ENSMUST00000154231
|
| Meta Mutation Damage Score |
0.2861 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,651,896 (GRCm39) |
C1321* |
probably null |
Het |
| Abca8b |
A |
G |
11: 109,857,534 (GRCm39) |
F673L |
possibly damaging |
Het |
| Adam19 |
T |
G |
11: 45,951,731 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,024,041 (GRCm39) |
T313A |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,260,318 (GRCm39) |
I178F |
probably benign |
Het |
| Alb |
G |
GA |
5: 90,611,842 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
G |
5: 41,988,860 (GRCm39) |
S416P |
probably damaging |
Het |
| Casr |
A |
T |
16: 36,330,405 (GRCm39) |
Y310N |
possibly damaging |
Het |
| Cela3a |
T |
C |
4: 137,131,737 (GRCm39) |
N152S |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,670,184 (GRCm39) |
C102* |
probably null |
Het |
| Col4a4 |
G |
A |
1: 82,476,667 (GRCm39) |
S554L |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,937,530 (GRCm39) |
K1392R |
probably damaging |
Het |
| Dab1 |
T |
G |
4: 104,535,974 (GRCm39) |
Y128D |
probably damaging |
Het |
| Dars1 |
A |
T |
1: 128,301,755 (GRCm39) |
M293K |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,950,912 (GRCm39) |
F493L |
possibly damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,651,748 (GRCm39) |
W330L |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,976,451 (GRCm39) |
M831K |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,897,545 (GRCm39) |
N715S |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,160 (GRCm39) |
L12Q |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,969 (GRCm39) |
M333V |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fto |
C |
A |
8: 92,136,315 (GRCm39) |
Y194* |
probably null |
Het |
| Gnptab |
T |
G |
10: 88,276,167 (GRCm39) |
Y1151* |
probably null |
Het |
| Grm1 |
A |
G |
10: 10,564,969 (GRCm39) |
L1113P |
probably benign |
Het |
| Hnrnpa0 |
T |
C |
13: 58,275,614 (GRCm39) |
K172E |
probably damaging |
Het |
| Ifitm1 |
A |
G |
7: 140,549,427 (GRCm39) |
D70G |
probably damaging |
Het |
| Irx4 |
C |
A |
13: 73,413,605 (GRCm39) |
T25K |
probably damaging |
Het |
| Kif22 |
C |
T |
7: 126,632,802 (GRCm39) |
D195N |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,366,365 (GRCm39) |
D245N |
probably benign |
Het |
| Lyz1 |
C |
T |
10: 117,124,504 (GRCm39) |
R144Q |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,276,971 (GRCm39) |
T6055S |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Myh9 |
G |
A |
15: 77,648,550 (GRCm39) |
Q80* |
probably null |
Het |
| Myo6 |
G |
T |
9: 80,152,964 (GRCm39) |
R199L |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,967,546 (GRCm39) |
V499I |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,465 (GRCm39) |
F140S |
probably benign |
Het |
| Or4p8 |
A |
G |
2: 88,727,611 (GRCm39) |
F110S |
probably damaging |
Het |
| Or52ab7 |
G |
A |
7: 102,978,316 (GRCm39) |
V208M |
probably damaging |
Het |
| Or52z1 |
A |
T |
7: 103,437,279 (GRCm39) |
F68L |
possibly damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,166 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p81 |
CAAATA |
CA |
7: 108,266,869 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
T |
9: 38,906,485 (GRCm39) |
L82Q |
probably damaging |
Het |
| Otop1 |
A |
T |
5: 38,457,110 (GRCm39) |
I290F |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,489,007 (GRCm39) |
D203N |
probably damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,547,240 (GRCm39) |
I772N |
probably benign |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,616 (GRCm39) |
H423R |
probably benign |
Het |
| Ptk2 |
A |
T |
15: 73,108,040 (GRCm39) |
Y56* |
probably null |
Het |
| Rapgef3 |
T |
C |
15: 97,658,604 (GRCm39) |
D134G |
probably damaging |
Het |
| Scaf11 |
A |
C |
15: 96,313,708 (GRCm39) |
S1358A |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,363,720 (GRCm39) |
M844V |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,858,002 (GRCm39) |
E1121G |
probably damaging |
Het |
| Slc25a15 |
T |
C |
8: 22,870,950 (GRCm39) |
T176A |
probably damaging |
Het |
| Slc29a4 |
T |
A |
5: 142,704,610 (GRCm39) |
I384N |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,614 (GRCm39) |
D555E |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,216,263 (GRCm39) |
I446V |
probably benign |
Het |
| St6gal2 |
T |
C |
17: 55,817,267 (GRCm39) |
Y477H |
probably damaging |
Het |
| Syngr1 |
A |
T |
15: 80,000,141 (GRCm39) |
Q84L |
possibly damaging |
Het |
| Tedc1 |
T |
C |
12: 113,121,340 (GRCm39) |
L187P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,721,456 (GRCm39) |
I322V |
probably null |
Het |
| Thap12 |
T |
C |
7: 98,365,656 (GRCm39) |
V608A |
possibly damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,299,949 (GRCm39) |
S22P |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,243,691 (GRCm39) |
P1232S |
probably benign |
Het |
| Upk3a |
A |
G |
15: 84,902,286 (GRCm39) |
T38A |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,554,442 (GRCm39) |
M1549K |
probably benign |
Het |
| Vmn1r176 |
C |
T |
7: 23,534,578 (GRCm39) |
D192N |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,538,885 (GRCm39) |
T35A |
possibly damaging |
Het |
| Xkr7 |
C |
T |
2: 152,895,983 (GRCm39) |
S279L |
probably damaging |
Het |
| Zfp641 |
G |
T |
15: 98,191,593 (GRCm39) |
T31N |
probably benign |
Het |
| Zfp74 |
G |
A |
7: 29,653,349 (GRCm39) |
|
probably benign |
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 |
|
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'- ATGGCCCTGGATGTGATCTC -3'
(R):5'- CAGGGAATGCAGCTCAAGTG -3'
Sequencing Primer
(F):5'- CTGGATGTGATCTCGGGCC -3'
(R):5'- AGAAGCATGTGCCTGTATCC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation