Incidental Mutation 'IGL01586:Zzz3'
ID |
91810 |
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 # |
IGL01586
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 152161476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 290
(I290N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q6KAQ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089982
AA Change: I790N
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: I790N
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: I791N
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: I791N
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: I791N
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: I791N
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: ENSMUST00000106103
AA Change: I290N
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101709 Gene: ENSMUSG00000039068 AA Change: I290N
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: ENSMUST00000135044
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200570
AA Change: I294N
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000143693 Gene: ENSMUSG00000039068 AA Change: I294N
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
A |
T |
17: 48,439,125 (GRCm39) |
Y144N |
unknown |
Het |
Abca9 |
A |
C |
11: 110,045,243 (GRCm39) |
C363W |
probably damaging |
Het |
Acmsd |
G |
A |
1: 127,687,447 (GRCm39) |
R243H |
probably damaging |
Het |
Adam33 |
T |
C |
2: 130,895,970 (GRCm39) |
T490A |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,610,928 (GRCm39) |
D1411G |
probably benign |
Het |
Arhgap39 |
T |
C |
15: 76,614,638 (GRCm39) |
E842G |
probably benign |
Het |
Asgr2 |
T |
C |
11: 69,996,193 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,557,293 (GRCm39) |
V14A |
possibly damaging |
Het |
Cer1 |
A |
G |
4: 82,803,080 (GRCm39) |
S81P |
probably damaging |
Het |
Cln6 |
T |
A |
9: 62,751,900 (GRCm39) |
H41Q |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,355,106 (GRCm39) |
D334G |
probably damaging |
Het |
Dpy19l2 |
A |
G |
9: 24,578,271 (GRCm39) |
I261T |
probably benign |
Het |
Fhod3 |
T |
G |
18: 25,223,804 (GRCm39) |
I1050S |
probably damaging |
Het |
Gbgt1 |
T |
C |
2: 28,387,842 (GRCm39) |
V22A |
probably benign |
Het |
Izumo3 |
A |
G |
4: 92,034,532 (GRCm39) |
|
probably null |
Het |
Kif11 |
T |
C |
19: 37,372,681 (GRCm39) |
|
probably benign |
Het |
Krt1c |
C |
A |
15: 101,719,825 (GRCm39) |
G615V |
unknown |
Het |
Midn |
A |
G |
10: 79,992,477 (GRCm39) |
|
probably benign |
Het |
Mier1 |
C |
T |
4: 103,012,769 (GRCm39) |
T342I |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,378,305 (GRCm39) |
|
probably null |
Het |
Nrp1 |
A |
T |
8: 129,158,513 (GRCm39) |
S267C |
possibly damaging |
Het |
Or8b8 |
A |
G |
9: 37,809,272 (GRCm39) |
T191A |
possibly damaging |
Het |
Pcdh20 |
A |
T |
14: 88,708,344 (GRCm39) |
M28K |
probably benign |
Het |
Prmt5 |
G |
A |
14: 54,747,408 (GRCm39) |
|
probably benign |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,537,173 (GRCm39) |
E519G |
probably damaging |
Het |
Samm50 |
T |
A |
15: 84,080,039 (GRCm39) |
I39N |
probably benign |
Het |
Shc2 |
A |
T |
10: 79,458,138 (GRCm39) |
M515K |
probably damaging |
Het |
Sorbs2 |
T |
A |
8: 46,248,631 (GRCm39) |
F608L |
probably damaging |
Het |
Sos2 |
T |
C |
12: 69,654,172 (GRCm39) |
K727E |
probably damaging |
Het |
Sox13 |
A |
T |
1: 133,317,182 (GRCm39) |
H150Q |
possibly damaging |
Het |
Tmem132e |
T |
C |
11: 82,325,495 (GRCm39) |
V165A |
probably damaging |
Het |
Trmt11 |
T |
C |
10: 30,473,747 (GRCm39) |
T43A |
probably benign |
Het |
Tyrp1 |
G |
T |
4: 80,763,135 (GRCm39) |
V341L |
probably benign |
Het |
Ugt2b35 |
C |
A |
5: 87,159,250 (GRCm39) |
H481Q |
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 |
|
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 |
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 |
2013-12-09 |