Incidental Mutation 'IGL00691:Zzz3'
ID |
15063 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zzz3
|
Ensembl Gene |
ENSMUSG00000039068 |
Gene Name |
zinc finger, ZZ domain containing 3 |
Synonyms |
3110065C23Rik, 6430567E01Rik |
Accession Numbers |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00691
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
152395473-152462826 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 152428514 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 403
(T403K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q6KAQ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089982
AA Change: T403K
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: T403K
Domain | Start | End | E-Value | Type |
SANT
|
657 |
711 |
1.42e-9 |
SMART |
low complexity region
|
776 |
787 |
N/A |
INTRINSIC |
low complexity region
|
799 |
814 |
N/A |
INTRINSIC |
ZnF_ZZ
|
823 |
871 |
6.46e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106100
AA Change: T403K
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: T403K
Domain | Start | End | E-Value | Type |
SANT
|
658 |
712 |
1.42e-9 |
SMART |
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
ZnF_ZZ
|
824 |
872 |
6.46e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106101
AA Change: T403K
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: T403K
Domain | Start | End | E-Value | Type |
SANT
|
658 |
712 |
1.42e-9 |
SMART |
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
ZnF_ZZ
|
824 |
872 |
6.46e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106103
|
SMART Domains |
Protein: ENSMUSP00000101709 Gene: ENSMUSG00000039068
Domain | Start | End | E-Value | Type |
SANT
|
157 |
211 |
1.42e-9 |
SMART |
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
ZnF_ZZ
|
323 |
371 |
6.46e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150802
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200570
|
SMART Domains |
Protein: ENSMUSP00000143693 Gene: ENSMUSG00000039068
Domain | Start | End | E-Value | Type |
SANT
|
161 |
215 |
1.42e-9 |
SMART |
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
ZnF_ZZ
|
327 |
375 |
6.46e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406P16Rik |
C |
T |
7: 34,245,485 |
V657M |
probably damaging |
Het |
Acvr1 |
T |
C |
2: 58,447,573 |
D499G |
probably benign |
Het |
Agl |
G |
T |
3: 116,779,258 |
Q811K |
possibly damaging |
Het |
Col6a4 |
C |
A |
9: 106,057,407 |
G1435C |
probably damaging |
Het |
Dhx15 |
T |
C |
5: 52,170,093 |
Y303C |
probably damaging |
Het |
Ebag9 |
A |
G |
15: 44,627,591 |
I40V |
probably damaging |
Het |
Lrrd1 |
T |
G |
5: 3,863,929 |
I733S |
probably damaging |
Het |
Mroh8 |
T |
C |
2: 157,238,307 |
|
probably benign |
Het |
Nr3c2 |
C |
T |
8: 76,909,590 |
S440F |
possibly damaging |
Het |
St3gal4 |
A |
G |
9: 35,053,069 |
|
probably benign |
Het |
Tle2 |
A |
G |
10: 81,581,739 |
D246G |
probably benign |
Het |
Vipr2 |
A |
G |
12: 116,138,748 |
|
probably null |
Het |
Zfp711 |
G |
A |
X: 112,624,811 |
R284Q |
probably damaging |
Het |
|
Other mutations in Zzz3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00707:Zzz3
|
APN |
3 |
152449043 |
nonsense |
probably null |
|
IGL00983:Zzz3
|
APN |
3 |
152455810 |
splice site |
probably benign |
|
IGL01586:Zzz3
|
APN |
3 |
152455839 |
missense |
possibly damaging |
0.80 |
IGL01973:Zzz3
|
APN |
3 |
152428370 |
missense |
probably benign |
0.00 |
IGL02002:Zzz3
|
APN |
3 |
152451369 |
missense |
probably damaging |
0.98 |
IGL02009:Zzz3
|
APN |
3 |
152428115 |
missense |
possibly damaging |
0.80 |
IGL02260:Zzz3
|
APN |
3 |
152452083 |
missense |
probably benign |
0.04 |
IGL02336:Zzz3
|
APN |
3 |
152428059 |
missense |
possibly damaging |
0.74 |
IGL02454:Zzz3
|
APN |
3 |
152428574 |
missense |
probably benign |
0.03 |
IGL02519:Zzz3
|
APN |
3 |
152427390 |
missense |
probably damaging |
1.00 |
R0067:Zzz3
|
UTSW |
3 |
152428403 |
missense |
possibly damaging |
0.88 |
R0067:Zzz3
|
UTSW |
3 |
152428403 |
missense |
possibly damaging |
0.88 |
R0314:Zzz3
|
UTSW |
3 |
152427448 |
missense |
probably benign |
0.00 |
R0536:Zzz3
|
UTSW |
3 |
152448828 |
missense |
probably damaging |
1.00 |
R1706:Zzz3
|
UTSW |
3 |
152449098 |
missense |
probably damaging |
1.00 |
R2869:Zzz3
|
UTSW |
3 |
152446844 |
synonymous |
silent |
|
R2870:Zzz3
|
UTSW |
3 |
152446844 |
synonymous |
silent |
|
R2871:Zzz3
|
UTSW |
3 |
152446844 |
synonymous |
silent |
|
R2872:Zzz3
|
UTSW |
3 |
152446844 |
synonymous |
silent |
|
R3927:Zzz3
|
UTSW |
3 |
152455862 |
missense |
probably damaging |
1.00 |
R4195:Zzz3
|
UTSW |
3 |
152428465 |
missense |
probably benign |
0.02 |
R4768:Zzz3
|
UTSW |
3 |
152448783 |
missense |
probably damaging |
1.00 |
R5248:Zzz3
|
UTSW |
3 |
152427545 |
missense |
probably damaging |
0.99 |
R5566:Zzz3
|
UTSW |
3 |
152455824 |
missense |
probably damaging |
1.00 |
R5752:Zzz3
|
UTSW |
3 |
152452122 |
missense |
possibly damaging |
0.48 |
R5782:Zzz3
|
UTSW |
3 |
152428100 |
missense |
possibly damaging |
0.69 |
R5884:Zzz3
|
UTSW |
3 |
152450658 |
missense |
probably damaging |
1.00 |
R6008:Zzz3
|
UTSW |
3 |
152428151 |
missense |
probably benign |
0.01 |
R6155:Zzz3
|
UTSW |
3 |
152427682 |
missense |
possibly damaging |
0.57 |
R6557:Zzz3
|
UTSW |
3 |
152428460 |
missense |
probably damaging |
1.00 |
R6865:Zzz3
|
UTSW |
3 |
152428053 |
missense |
probably benign |
0.01 |
R7344:Zzz3
|
UTSW |
3 |
152452099 |
missense |
probably damaging |
0.98 |
R7588:Zzz3
|
UTSW |
3 |
152422768 |
missense |
possibly damaging |
0.85 |
R7636:Zzz3
|
UTSW |
3 |
152427652 |
missense |
probably benign |
|
R7732:Zzz3
|
UTSW |
3 |
152448842 |
missense |
probably damaging |
1.00 |
R8157:Zzz3
|
UTSW |
3 |
152449648 |
missense |
probably null |
0.71 |
R8490:Zzz3
|
UTSW |
3 |
152428653 |
nonsense |
probably null |
|
R8926:Zzz3
|
UTSW |
3 |
152427892 |
missense |
possibly damaging |
0.76 |
R9143:Zzz3
|
UTSW |
3 |
152458271 |
missense |
probably benign |
0.04 |
R9243:Zzz3
|
UTSW |
3 |
152428283 |
missense |
probably damaging |
1.00 |
X0018:Zzz3
|
UTSW |
3 |
152428733 |
missense |
possibly damaging |
0.88 |
Z1176:Zzz3
|
UTSW |
3 |
152449097 |
missense |
possibly damaging |
0.94 |
|
Posted On |
2012-12-06 |