Incidental Mutation 'IGL02454:Zzz3'
ID |
293761 |
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 # |
IGL02454
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152134211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 423
(N423S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087428
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q6KAQ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089982
AA Change: N423S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: N423S
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: N423S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: N423S
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: N423S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: N423S
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amz2 |
T |
G |
11: 109,324,887 (GRCm39) |
|
probably benign |
Het |
Atp13a5 |
A |
G |
16: 29,051,560 (GRCm39) |
F1104S |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,579,141 (GRCm39) |
N1610S |
probably damaging |
Het |
Ccnl1 |
A |
T |
3: 65,864,318 (GRCm39) |
D122E |
probably damaging |
Het |
Crtc2 |
G |
A |
3: 90,166,474 (GRCm39) |
G65S |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,971,593 (GRCm39) |
T2160A |
probably damaging |
Het |
Fads3 |
T |
G |
19: 10,032,483 (GRCm39) |
L278R |
probably damaging |
Het |
Foxp4 |
A |
T |
17: 48,186,507 (GRCm39) |
L424* |
probably null |
Het |
Gm10392 |
A |
T |
11: 77,409,216 (GRCm39) |
E310V |
probably damaging |
Het |
Gm11554 |
T |
A |
11: 99,694,815 (GRCm39) |
S133C |
unknown |
Het |
Hacd2 |
T |
A |
16: 34,926,761 (GRCm39) |
F253L |
probably benign |
Het |
Il3ra |
T |
C |
14: 14,351,113 (GRCm38) |
S212P |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,694,674 (GRCm39) |
|
probably null |
Het |
Mtfr1l |
A |
T |
4: 134,257,696 (GRCm39) |
L111H |
probably damaging |
Het |
Mysm1 |
A |
G |
4: 94,858,741 (GRCm39) |
|
probably benign |
Het |
Or10j2 |
C |
A |
1: 173,098,507 (GRCm39) |
S255Y |
probably damaging |
Het |
Or52d1 |
T |
C |
7: 103,755,819 (GRCm39) |
V111A |
probably damaging |
Het |
Plec |
A |
T |
15: 76,075,231 (GRCm39) |
F357I |
probably damaging |
Het |
Polr3a |
C |
A |
14: 24,525,891 (GRCm39) |
V450L |
possibly damaging |
Het |
Prkd1 |
T |
C |
12: 50,411,456 (GRCm39) |
K764R |
probably benign |
Het |
Pxn |
C |
T |
5: 115,690,325 (GRCm39) |
P256S |
probably damaging |
Het |
Rbm25 |
T |
A |
12: 83,707,096 (GRCm39) |
F247L |
probably benign |
Het |
Rfx4 |
C |
T |
10: 84,675,970 (GRCm39) |
T62M |
possibly damaging |
Het |
Rps4l-ps |
T |
C |
7: 114,526,499 (GRCm39) |
|
noncoding transcript |
Het |
Scn11a |
A |
G |
9: 119,587,610 (GRCm39) |
I1378T |
probably benign |
Het |
Siglecg |
T |
C |
7: 43,058,319 (GRCm39) |
S69P |
probably benign |
Het |
Stox1 |
T |
C |
10: 62,503,605 (GRCm39) |
Y61C |
probably damaging |
Het |
Tex55 |
T |
A |
16: 38,648,309 (GRCm39) |
T267S |
probably benign |
Het |
Tnks |
C |
T |
8: 35,298,882 (GRCm39) |
|
probably benign |
Het |
Tpr |
A |
G |
1: 150,306,943 (GRCm39) |
S1587G |
probably benign |
Het |
Trappc6b |
A |
G |
12: 59,090,433 (GRCm39) |
*97Q |
probably null |
Het |
Usf3 |
T |
C |
16: 44,037,545 (GRCm39) |
V675A |
probably damaging |
Het |
Wdr7 |
C |
T |
18: 63,929,299 (GRCm39) |
T1045M |
probably benign |
Het |
Zc3h11a |
A |
T |
1: 133,552,254 (GRCm39) |
C618S |
probably benign |
Het |
Zfp398 |
T |
C |
6: 47,817,301 (GRCm39) |
V47A |
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 |
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 |
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 |