Incidental Mutation 'IGL02009:Zzz3'
ID |
182289 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zzz3
|
Ensembl Gene |
ENSMUSG00000039068 |
Gene Name |
zinc finger, ZZ domain containing 3 |
Synonyms |
6430567E01Rik, 3110065C23Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02009
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152133752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 270
(D270G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q6KAQ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089982
AA Change: D270G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: D270G
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 |
possibly damaging
Transcript: ENSMUST00000106100
AA Change: D270G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: D270G
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 |
possibly damaging
Transcript: ENSMUST00000106101
AA Change: D270G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: D270G
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a3 |
T |
C |
7: 66,051,789 (GRCm39) |
D388G |
probably benign |
Het |
Ankhd1 |
C |
A |
18: 36,757,714 (GRCm39) |
Q803K |
probably damaging |
Het |
Arrdc3 |
A |
G |
13: 81,041,499 (GRCm39) |
N180S |
probably benign |
Het |
Atp11b |
G |
A |
3: 35,868,301 (GRCm39) |
E458K |
probably benign |
Het |
Bend6 |
G |
A |
1: 33,901,827 (GRCm39) |
A185V |
probably benign |
Het |
Ccdc121 |
C |
T |
5: 31,644,835 (GRCm39) |
T196I |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,450,670 (GRCm39) |
D632G |
probably damaging |
Het |
Clec4a1 |
A |
T |
6: 122,909,175 (GRCm39) |
H181L |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,085,224 (GRCm39) |
D387E |
probably benign |
Het |
Colq |
G |
A |
14: 31,257,599 (GRCm39) |
S256F |
possibly damaging |
Het |
Cracd |
A |
G |
5: 76,996,817 (GRCm39) |
T92A |
possibly damaging |
Het |
Ctdp1 |
A |
G |
18: 80,499,187 (GRCm39) |
Y252H |
probably damaging |
Het |
Cyp4f17 |
T |
A |
17: 32,743,854 (GRCm39) |
L344Q |
probably damaging |
Het |
Fam83b |
A |
G |
9: 76,399,604 (GRCm39) |
Y500H |
probably damaging |
Het |
Gapvd1 |
G |
A |
2: 34,594,203 (GRCm39) |
P949L |
probably damaging |
Het |
Gp5 |
A |
G |
16: 30,128,482 (GRCm39) |
I64T |
probably benign |
Het |
Il31ra |
A |
G |
13: 112,670,401 (GRCm39) |
V248A |
probably damaging |
Het |
Kdm4a |
C |
T |
4: 118,017,366 (GRCm39) |
A567T |
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,930,888 (GRCm39) |
|
probably null |
Het |
Lrrc8c |
G |
A |
5: 105,755,257 (GRCm39) |
R344H |
probably damaging |
Het |
Man1a |
G |
A |
10: 53,801,621 (GRCm39) |
L413F |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,591,978 (GRCm39) |
D67E |
probably damaging |
Het |
Mkln1 |
G |
A |
6: 31,426,455 (GRCm39) |
S243N |
probably benign |
Het |
Mmp19 |
T |
A |
10: 128,634,356 (GRCm39) |
M299K |
probably benign |
Het |
Msantd2 |
T |
C |
9: 37,434,686 (GRCm39) |
F309L |
possibly damaging |
Het |
Mstn |
A |
G |
1: 53,101,309 (GRCm39) |
|
probably benign |
Het |
Nat8f5 |
A |
C |
6: 85,794,408 (GRCm39) |
I184R |
probably benign |
Het |
Or5d43 |
C |
T |
2: 88,105,056 (GRCm39) |
M112I |
probably benign |
Het |
Or9m1b |
G |
T |
2: 87,837,117 (GRCm39) |
Q2K |
probably benign |
Het |
Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
Pms2 |
T |
A |
5: 143,862,582 (GRCm39) |
L563Q |
probably benign |
Het |
Rpap1 |
A |
G |
2: 119,610,594 (GRCm39) |
S162P |
possibly damaging |
Het |
Rpl3l |
A |
G |
17: 24,951,407 (GRCm39) |
K103E |
probably damaging |
Het |
Slc45a1 |
A |
T |
4: 150,722,447 (GRCm39) |
V479E |
probably damaging |
Het |
Themis2 |
A |
T |
4: 132,512,753 (GRCm39) |
L491Q |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,600,714 (GRCm39) |
I671L |
possibly damaging |
Het |
Vmn2r6 |
C |
A |
3: 64,445,323 (GRCm39) |
V712L |
possibly damaging |
Het |
|
Other mutations in Zzz3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00691:Zzz3
|
APN |
3 |
152,134,151 (GRCm39) |
missense |
probably benign |
0.16 |
IGL00707:Zzz3
|
APN |
3 |
152,154,680 (GRCm39) |
nonsense |
probably null |
|
IGL00983:Zzz3
|
APN |
3 |
152,161,447 (GRCm39) |
splice site |
probably benign |
|
IGL01586:Zzz3
|
APN |
3 |
152,161,476 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01973:Zzz3
|
APN |
3 |
152,134,007 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02002:Zzz3
|
APN |
3 |
152,157,006 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02260:Zzz3
|
APN |
3 |
152,157,720 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02336:Zzz3
|
APN |
3 |
152,133,696 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02454:Zzz3
|
APN |
3 |
152,134,211 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02519:Zzz3
|
APN |
3 |
152,133,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R0067:Zzz3
|
UTSW |
3 |
152,134,040 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0067:Zzz3
|
UTSW |
3 |
152,134,040 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0314:Zzz3
|
UTSW |
3 |
152,133,085 (GRCm39) |
missense |
probably benign |
0.00 |
R0536:Zzz3
|
UTSW |
3 |
152,154,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R1706:Zzz3
|
UTSW |
3 |
152,154,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Zzz3
|
UTSW |
3 |
152,152,481 (GRCm39) |
synonymous |
silent |
|
R2870:Zzz3
|
UTSW |
3 |
152,152,481 (GRCm39) |
synonymous |
silent |
|
R2871:Zzz3
|
UTSW |
3 |
152,152,481 (GRCm39) |
synonymous |
silent |
|
R2872:Zzz3
|
UTSW |
3 |
152,152,481 (GRCm39) |
synonymous |
silent |
|
R3927:Zzz3
|
UTSW |
3 |
152,161,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R4195:Zzz3
|
UTSW |
3 |
152,134,102 (GRCm39) |
missense |
probably benign |
0.02 |
R4768:Zzz3
|
UTSW |
3 |
152,154,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R5248:Zzz3
|
UTSW |
3 |
152,133,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R5566:Zzz3
|
UTSW |
3 |
152,161,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R5752:Zzz3
|
UTSW |
3 |
152,157,759 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5782:Zzz3
|
UTSW |
3 |
152,133,737 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5884:Zzz3
|
UTSW |
3 |
152,156,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:Zzz3
|
UTSW |
3 |
152,133,788 (GRCm39) |
missense |
probably benign |
0.01 |
R6155:Zzz3
|
UTSW |
3 |
152,133,319 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6557:Zzz3
|
UTSW |
3 |
152,134,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R6865:Zzz3
|
UTSW |
3 |
152,133,690 (GRCm39) |
missense |
probably benign |
0.01 |
R7344:Zzz3
|
UTSW |
3 |
152,157,736 (GRCm39) |
missense |
probably damaging |
0.98 |
R7588:Zzz3
|
UTSW |
3 |
152,128,405 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7636:Zzz3
|
UTSW |
3 |
152,133,289 (GRCm39) |
missense |
probably benign |
|
R7732:Zzz3
|
UTSW |
3 |
152,154,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R8157:Zzz3
|
UTSW |
3 |
152,155,285 (GRCm39) |
missense |
probably null |
0.71 |
R8490:Zzz3
|
UTSW |
3 |
152,134,290 (GRCm39) |
nonsense |
probably null |
|
R8926:Zzz3
|
UTSW |
3 |
152,133,529 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9143:Zzz3
|
UTSW |
3 |
152,163,908 (GRCm39) |
missense |
probably benign |
0.04 |
R9243:Zzz3
|
UTSW |
3 |
152,133,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R9494:Zzz3
|
UTSW |
3 |
152,133,468 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9540:Zzz3
|
UTSW |
3 |
152,156,306 (GRCm39) |
nonsense |
probably null |
|
X0018:Zzz3
|
UTSW |
3 |
152,134,370 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1176:Zzz3
|
UTSW |
3 |
152,154,734 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2014-05-07 |