Incidental Mutation 'IGL02260:Zzz3'
ID |
286695 |
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 # |
IGL02260
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 152157720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 263
(D263E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q6KAQ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089982
AA Change: D763E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: D763E
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: D764E
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: D764E
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: D764E
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: D764E
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
AA Change: D263E
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000101709 Gene: ENSMUSG00000039068 AA Change: D263E
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: ENSMUST00000150802
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200570
AA Change: D267E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143693 Gene: ENSMUSG00000039068 AA Change: D267E
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
C |
T |
17: 57,754,891 (GRCm39) |
A663V |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,602,699 (GRCm39) |
|
probably benign |
Het |
B4galt6 |
T |
C |
18: 20,833,804 (GRCm39) |
I194V |
probably benign |
Het |
Caprin1 |
T |
C |
2: 103,609,714 (GRCm39) |
Y188C |
probably damaging |
Het |
Ccdc85a |
A |
G |
11: 28,526,672 (GRCm39) |
F284S |
possibly damaging |
Het |
Ccdc88b |
A |
T |
19: 6,832,717 (GRCm39) |
|
probably benign |
Het |
Cox18 |
C |
T |
5: 90,365,384 (GRCm39) |
V272I |
possibly damaging |
Het |
Dars1 |
A |
T |
1: 128,299,898 (GRCm39) |
M362K |
probably benign |
Het |
Ddi1 |
A |
T |
9: 6,265,760 (GRCm39) |
M203K |
probably benign |
Het |
Dlg4 |
G |
A |
11: 69,933,093 (GRCm39) |
G500R |
probably damaging |
Het |
Ebf3 |
G |
A |
7: 136,807,919 (GRCm39) |
P375S |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,084,537 (GRCm39) |
L842M |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gm5581 |
T |
C |
6: 131,144,909 (GRCm39) |
|
noncoding transcript |
Het |
Mapk10 |
A |
T |
5: 103,186,534 (GRCm39) |
D29E |
probably benign |
Het |
Mib2 |
C |
T |
4: 155,745,628 (GRCm39) |
R61H |
probably damaging |
Het |
Mki67 |
A |
G |
7: 135,303,697 (GRCm39) |
S724P |
probably benign |
Het |
Mtor |
T |
C |
4: 148,622,758 (GRCm39) |
I1946T |
probably damaging |
Het |
Myh14 |
A |
G |
7: 44,260,995 (GRCm39) |
L1873P |
probably damaging |
Het |
Myom1 |
C |
T |
17: 71,415,310 (GRCm39) |
Q1226* |
probably null |
Het |
Neb |
A |
G |
2: 52,095,668 (GRCm39) |
L4858P |
probably damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,114 (GRCm39) |
I128F |
probably damaging |
Het |
Or5m9b |
C |
A |
2: 85,905,816 (GRCm39) |
T244K |
possibly damaging |
Het |
Or5p76 |
T |
C |
7: 108,122,492 (GRCm39) |
I222V |
probably benign |
Het |
Pcdhb14 |
C |
T |
18: 37,583,086 (GRCm39) |
H731Y |
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,412,744 (GRCm39) |
N1087S |
probably benign |
Het |
Prdm2 |
C |
T |
4: 142,861,157 (GRCm39) |
G711D |
probably damaging |
Het |
Proser1 |
G |
A |
3: 53,386,365 (GRCm39) |
G749D |
probably damaging |
Het |
Ptch1 |
A |
T |
13: 63,713,166 (GRCm39) |
|
probably benign |
Het |
Pus10 |
A |
T |
11: 23,657,548 (GRCm39) |
K233* |
probably null |
Het |
Rasa2 |
A |
G |
9: 96,426,372 (GRCm39) |
Y825H |
probably benign |
Het |
Tbcd |
T |
C |
11: 121,494,104 (GRCm39) |
F969S |
probably damaging |
Het |
Tbp |
T |
A |
17: 15,724,878 (GRCm39) |
S133T |
probably damaging |
Het |
Tnks |
C |
T |
8: 35,310,137 (GRCm39) |
G1062D |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,764,372 (GRCm39) |
S625T |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,850,562 (GRCm39) |
S239P |
probably benign |
Het |
Ubiad1 |
T |
C |
4: 148,528,564 (GRCm39) |
D115G |
probably benign |
Het |
Uckl1 |
A |
G |
2: 181,211,381 (GRCm39) |
S483P |
probably damaging |
Het |
Vill |
A |
G |
9: 118,887,509 (GRCm39) |
D91G |
probably benign |
Het |
Wdr62 |
C |
A |
7: 29,970,207 (GRCm39) |
C200F |
probably damaging |
Het |
Zfp341 |
G |
A |
2: 154,483,969 (GRCm39) |
C586Y |
possibly damaging |
Het |
Zfp687 |
G |
A |
3: 94,918,575 (GRCm39) |
T399I |
possibly damaging |
Het |
Zp1 |
G |
T |
19: 10,894,078 (GRCm39) |
|
probably benign |
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 |
IGL02009:Zzz3
|
APN |
3 |
152,133,752 (GRCm39) |
missense |
possibly damaging |
0.80 |
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 |
2015-04-16 |