Incidental Mutation 'IGL01619:Zyg11a'
| ID |
92506 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zyg11a
|
| Ensembl Gene |
ENSMUSG00000034645 |
| Gene Name |
zyg-11 family member A, cell cycle regulator |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
IGL01619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108038935-108075245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108062414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 129
(E129V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043793]
[ENSMUST00000106690]
[ENSMUST00000223127]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043793
AA Change: E127V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038478
Gene: ENSMUSG00000034645
AA Change: E127V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
218 |
700 |
2e-11 |
SMART |
|
Blast:ARM
|
497 |
544 |
1e-5 |
BLAST |
|
Blast:ARM
|
547 |
587 |
5e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106690
AA Change: E129V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102301
Gene: ENSMUSG00000034645
AA Change: E129V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
139 |
621 |
1e-11 |
SMART |
|
Blast:ARM
|
418 |
465 |
1e-5 |
BLAST |
|
Blast:ARM
|
468 |
508 |
1e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223127
AA Change: E129V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd46 |
T |
C |
15: 36,486,113 (GRCm39) |
T47A |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,656,385 (GRCm39) |
V1465G |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,711,756 (GRCm39) |
D1657V |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,427,814 (GRCm39) |
T170I |
possibly damaging |
Het |
| Cntn6 |
G |
A |
6: 104,705,335 (GRCm39) |
|
probably benign |
Het |
| Def6 |
C |
T |
17: 28,426,838 (GRCm39) |
L8F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,722,441 (GRCm39) |
K1940* |
probably null |
Het |
| Dock10 |
A |
G |
1: 80,612,015 (GRCm39) |
|
probably benign |
Het |
| Fam72a |
A |
G |
1: 131,461,650 (GRCm39) |
I112V |
probably benign |
Het |
| Fgl1 |
A |
T |
8: 41,650,008 (GRCm39) |
W258R |
probably damaging |
Het |
| Ints6l |
G |
T |
X: 55,542,104 (GRCm39) |
|
probably benign |
Het |
| Lifr |
A |
T |
15: 7,220,643 (GRCm39) |
N1091I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,762,309 (GRCm39) |
I1100T |
possibly damaging |
Het |
| Mrpl40 |
T |
A |
16: 18,691,294 (GRCm39) |
M139L |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,351,471 (GRCm39) |
|
probably benign |
Het |
| Or2m12 |
T |
A |
16: 19,104,909 (GRCm39) |
T195S |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,992 (GRCm39) |
F791L |
probably damaging |
Het |
| Prss29 |
T |
C |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,299,900 (GRCm39) |
|
probably null |
Het |
| Serpinb9e |
A |
G |
13: 33,439,108 (GRCm39) |
K178R |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 59,016,601 (GRCm39) |
S233P |
probably damaging |
Het |
| Smpd1 |
G |
A |
7: 105,204,549 (GRCm39) |
V143M |
possibly damaging |
Het |
| Terb1 |
G |
A |
8: 105,199,646 (GRCm39) |
H433Y |
probably benign |
Het |
| Traf6 |
C |
T |
2: 101,520,443 (GRCm39) |
Q164* |
probably null |
Het |
| Trip12 |
C |
A |
1: 84,792,631 (GRCm39) |
R4L |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,693,879 (GRCm39) |
P208S |
possibly damaging |
Het |
| Ube2c |
T |
C |
2: 164,613,232 (GRCm39) |
I50T |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,200,775 (GRCm39) |
D1174G |
probably damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,041,997 (GRCm39) |
M387L |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,510,229 (GRCm39) |
N48I |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,490,517 (GRCm39) |
L217P |
probably damaging |
Het |
|
| Other mutations in Zyg11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01458:Zyg11a
|
APN |
4 |
108,062,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01517:Zyg11a
|
APN |
4 |
108,058,391 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02253:Zyg11a
|
APN |
4 |
108,040,892 (GRCm39) |
missense |
probably null |
0.99 |
|
R0090:Zyg11a
|
UTSW |
4 |
108,058,544 (GRCm39) |
splice site |
probably benign |
|
|
R0225:Zyg11a
|
UTSW |
4 |
108,061,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Zyg11a
|
UTSW |
4 |
108,062,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0827:Zyg11a
|
UTSW |
4 |
108,067,239 (GRCm39) |
splice site |
probably benign |
|
|
R1568:Zyg11a
|
UTSW |
4 |
108,040,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1752:Zyg11a
|
UTSW |
4 |
108,062,479 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2051:Zyg11a
|
UTSW |
4 |
108,049,244 (GRCm39) |
splice site |
probably benign |
|
|
R2358:Zyg11a
|
UTSW |
4 |
108,053,343 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3898:Zyg11a
|
UTSW |
4 |
108,067,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4288:Zyg11a
|
UTSW |
4 |
108,041,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4381:Zyg11a
|
UTSW |
4 |
108,058,517 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4709:Zyg11a
|
UTSW |
4 |
108,062,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4859:Zyg11a
|
UTSW |
4 |
108,067,387 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5303:Zyg11a
|
UTSW |
4 |
108,041,629 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5349:Zyg11a
|
UTSW |
4 |
108,040,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5363:Zyg11a
|
UTSW |
4 |
108,046,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5517:Zyg11a
|
UTSW |
4 |
108,061,943 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6175:Zyg11a
|
UTSW |
4 |
108,046,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6254:Zyg11a
|
UTSW |
4 |
108,038,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:Zyg11a
|
UTSW |
4 |
108,046,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7524:Zyg11a
|
UTSW |
4 |
108,049,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Zyg11a
|
UTSW |
4 |
108,040,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Zyg11a
|
UTSW |
4 |
108,046,765 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8437:Zyg11a
|
UTSW |
4 |
108,075,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8986:Zyg11a
|
UTSW |
4 |
108,041,628 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9129:Zyg11a
|
UTSW |
4 |
108,039,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9383:Zyg11a
|
UTSW |
4 |
108,046,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Zyg11a
|
UTSW |
4 |
108,075,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Zyg11a
|
UTSW |
4 |
108,062,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9511:Zyg11a
|
UTSW |
4 |
108,062,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Zyg11a
|
UTSW |
4 |
108,051,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zyg11a
|
UTSW |
4 |
108,058,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zyg11a
|
UTSW |
4 |
108,061,997 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-12-09 |
Incidental Mutation