Incidental Mutation 'IGL02253:Zyg11a'
ID |
286503 |
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: 0.129)
|
Stock # |
IGL02253
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
108038935-108075245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 108040892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 685
(V685G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043793]
[ENSMUST00000052999]
[ENSMUST00000106690]
[ENSMUST00000116307]
[ENSMUST00000116309]
[ENSMUST00000223127]
[ENSMUST00000130942]
[ENSMUST00000126900]
[ENSMUST00000125647]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000043793
AA Change: V685G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000038478 Gene: ENSMUSG00000034645 AA Change: V685G
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 benign
Transcript: ENSMUST00000052999
|
SMART Domains |
Protein: ENSMUSP00000051268 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH_1
|
41 |
296 |
1.1e-60 |
PFAM |
Pfam:ECH_2
|
46 |
225 |
5.1e-35 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106690
AA Change: V687G
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102301 Gene: ENSMUSG00000034645 AA Change: V687G
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 benign
Transcript: ENSMUST00000106691
|
SMART Domains |
Protein: ENSMUSP00000102302 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH_1
|
1 |
119 |
1.6e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116307
|
SMART Domains |
Protein: ENSMUSP00000112009 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH
|
39 |
131 |
6.7e-17 |
PFAM |
Pfam:ECH
|
124 |
257 |
5.3e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116309
|
SMART Domains |
Protein: ENSMUSP00000112011 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH
|
39 |
288 |
3.2e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127392
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223127
AA Change: V687G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135718
|
SMART Domains |
Protein: ENSMUSP00000114371 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH_1
|
1 |
74 |
9.6e-16 |
PFAM |
Pfam:ECH_2
|
2 |
74 |
1.1e-11 |
PFAM |
Pfam:ECH_1
|
69 |
184 |
2.8e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130942
|
SMART Domains |
Protein: ENSMUSP00000124746 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH
|
39 |
103 |
8.6e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126900
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125647
|
SMART Domains |
Protein: ENSMUSP00000123913 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,807,182 (GRCm39) |
E76G |
probably benign |
Het |
Adamtsl2 |
A |
T |
2: 26,988,709 (GRCm39) |
T587S |
possibly damaging |
Het |
Adgre4 |
T |
A |
17: 56,067,573 (GRCm39) |
M9K |
probably benign |
Het |
Aff2 |
T |
A |
X: 68,874,397 (GRCm39) |
V447E |
probably benign |
Het |
Arhgef10l |
G |
T |
4: 140,271,595 (GRCm39) |
S425* |
probably null |
Het |
Cabcoco1 |
T |
C |
10: 68,272,107 (GRCm39) |
|
probably null |
Het |
Calcr |
T |
A |
6: 3,707,523 (GRCm39) |
H259L |
probably benign |
Het |
Cdc42bpa |
T |
A |
1: 179,859,161 (GRCm39) |
|
probably benign |
Het |
Cntnap5b |
C |
T |
1: 100,091,936 (GRCm39) |
H540Y |
possibly damaging |
Het |
Cyp2a22 |
A |
T |
7: 26,637,662 (GRCm39) |
|
probably benign |
Het |
Ddx3x |
T |
C |
X: 13,151,207 (GRCm39) |
|
probably benign |
Het |
Dnajc11 |
T |
A |
4: 152,034,976 (GRCm39) |
Y28* |
probably null |
Het |
Dock11 |
T |
C |
X: 35,304,781 (GRCm39) |
F1472S |
probably damaging |
Het |
Dusp18 |
T |
C |
11: 3,847,576 (GRCm39) |
*189Q |
probably null |
Het |
Dzip3 |
A |
T |
16: 48,765,287 (GRCm39) |
Y476N |
probably benign |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Evc2 |
T |
A |
5: 37,535,771 (GRCm39) |
|
probably benign |
Het |
Fam151b |
A |
T |
13: 92,614,435 (GRCm39) |
Y18N |
probably damaging |
Het |
Gk5 |
T |
C |
9: 96,019,824 (GRCm39) |
F120S |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,490,788 (GRCm39) |
T969A |
probably damaging |
Het |
Kcna3 |
T |
C |
3: 106,944,727 (GRCm39) |
L330P |
probably damaging |
Het |
Kctd20 |
A |
G |
17: 29,180,460 (GRCm39) |
N7S |
probably benign |
Het |
Kmt2b |
G |
T |
7: 30,281,152 (GRCm39) |
R1276S |
probably damaging |
Het |
Kmt2d |
C |
T |
15: 98,756,056 (GRCm39) |
|
probably benign |
Het |
L2hgdh |
G |
A |
12: 69,752,534 (GRCm39) |
|
probably benign |
Het |
Lifr |
T |
G |
15: 7,220,085 (GRCm39) |
V905G |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,305,899 (GRCm39) |
V4E |
probably benign |
Het |
Nrip3 |
A |
C |
7: 109,360,951 (GRCm39) |
|
probably null |
Het |
Nsun2 |
T |
G |
13: 69,767,658 (GRCm39) |
V204G |
possibly damaging |
Het |
Nup54 |
A |
G |
5: 92,565,310 (GRCm39) |
|
probably null |
Het |
Or5p69 |
T |
A |
7: 107,967,261 (GRCm39) |
V188E |
possibly damaging |
Het |
Or8c16 |
T |
A |
9: 38,131,031 (GRCm39) |
M304K |
probably benign |
Het |
Pdcl3 |
A |
G |
1: 39,034,011 (GRCm39) |
D51G |
probably benign |
Het |
Pdlim1 |
T |
C |
19: 40,218,974 (GRCm39) |
E219G |
probably damaging |
Het |
Pld4 |
A |
C |
12: 112,733,141 (GRCm39) |
K239T |
probably damaging |
Het |
Rgsl1 |
T |
C |
1: 153,669,513 (GRCm39) |
Y291C |
probably damaging |
Het |
Rnf213 |
C |
A |
11: 119,331,476 (GRCm39) |
H2228Q |
probably benign |
Het |
Rnf222 |
T |
A |
11: 68,783,862 (GRCm39) |
I143N |
probably damaging |
Het |
Sirt7 |
A |
G |
11: 120,511,693 (GRCm39) |
I13T |
probably benign |
Het |
Slfn10-ps |
A |
G |
11: 82,919,890 (GRCm39) |
|
noncoding transcript |
Het |
Slx4ip |
T |
C |
2: 136,842,195 (GRCm39) |
|
probably null |
Het |
Spata18 |
G |
T |
5: 73,825,939 (GRCm39) |
S164I |
possibly damaging |
Het |
Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
Stk26 |
T |
C |
X: 49,975,565 (GRCm39) |
L212P |
probably damaging |
Het |
Tmsb15a |
T |
C |
X: 134,620,451 (GRCm39) |
I56V |
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,760,742 (GRCm39) |
S150T |
probably damaging |
Het |
Tubb3 |
T |
C |
8: 124,147,559 (GRCm39) |
M164T |
probably benign |
Het |
Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
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 |
IGL01619:Zyg11a
|
APN |
4 |
108,062,414 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |