Incidental Mutation 'IGL02336:Zzz3'
| ID |
288848 |
| 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 # |
IGL02336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 152133696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 251
(D251E)
|
| 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: D251E
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D251E
| 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: D251E
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D251E
| 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: D251E
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D251E
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
G |
2: 93,696,253 (GRCm39) |
V119A |
possibly damaging |
Het |
| Adamts12 |
T |
A |
15: 11,311,331 (GRCm39) |
M1196K |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,718,024 (GRCm39) |
C345* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,312,078 (GRCm39) |
E249G |
probably benign |
Het |
| Amdhd1 |
T |
A |
10: 93,360,291 (GRCm39) |
I423F |
probably benign |
Het |
| Ankhd1 |
A |
G |
18: 36,727,867 (GRCm39) |
N501S |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,179,858 (GRCm39) |
V2127A |
probably damaging |
Het |
| Cd180 |
T |
A |
13: 102,841,821 (GRCm39) |
I289N |
probably damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,949 (GRCm39) |
I224F |
probably damaging |
Het |
| Cox6a2 |
A |
G |
7: 127,805,103 (GRCm39) |
I60T |
possibly damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,471,483 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
G |
A |
5: 27,674,409 (GRCm39) |
E179K |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,704,562 (GRCm39) |
T1341I |
possibly damaging |
Het |
| Fat1 |
C |
T |
8: 45,404,620 (GRCm39) |
T457I |
probably benign |
Het |
| Filip1l |
A |
T |
16: 57,392,096 (GRCm39) |
|
probably null |
Het |
| Gje1 |
A |
T |
10: 14,592,413 (GRCm39) |
I123N |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,894,874 (GRCm39) |
T683A |
probably damaging |
Het |
| Gm29326 |
C |
A |
7: 29,260,833 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5460 |
A |
G |
14: 33,765,909 (GRCm39) |
|
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,200 (GRCm39) |
S739N |
probably benign |
Het |
| Ighv1-42 |
T |
A |
12: 114,900,885 (GRCm39) |
I67F |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,402,041 (GRCm39) |
V408A |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,147,198 (GRCm39) |
W250R |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,078,565 (GRCm39) |
I360T |
possibly damaging |
Het |
| Maml1 |
T |
C |
11: 50,148,992 (GRCm39) |
N916S |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,384,184 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
T |
15: 78,294,474 (GRCm39) |
T69S |
probably benign |
Het |
| Nlk |
C |
A |
11: 78,477,763 (GRCm39) |
V327F |
probably damaging |
Het |
| Nme5 |
A |
T |
18: 34,711,730 (GRCm39) |
S4T |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,045,711 (GRCm39) |
I1625M |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,088,859 (GRCm39) |
|
probably null |
Het |
| Oas1d |
A |
G |
5: 121,057,111 (GRCm39) |
E239G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,243,761 (GRCm39) |
S110P |
probably damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,772 (GRCm39) |
M61V |
probably benign |
Het |
| Parn |
T |
A |
16: 13,384,567 (GRCm39) |
I499F |
probably damaging |
Het |
| Ppargc1a |
G |
A |
5: 51,653,068 (GRCm39) |
Q165* |
probably null |
Het |
| Ppp1r12b |
T |
A |
1: 134,814,244 (GRCm39) |
E353V |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,603,842 (GRCm39) |
Q2952R |
possibly damaging |
Het |
| Prkdc |
G |
T |
16: 15,603,843 (GRCm39) |
Q2952H |
probably benign |
Het |
| Qars1 |
G |
T |
9: 108,392,185 (GRCm39) |
E143* |
probably null |
Het |
| Reln |
A |
G |
5: 22,134,132 (GRCm39) |
Y2599H |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,939,041 (GRCm39) |
E803G |
probably damaging |
Het |
| Rnf141 |
G |
A |
7: 110,436,405 (GRCm39) |
Q8* |
probably null |
Het |
| Rnf167 |
A |
G |
11: 70,540,952 (GRCm39) |
I193V |
probably benign |
Het |
| Rprd2 |
A |
T |
3: 95,694,622 (GRCm39) |
M137K |
probably benign |
Het |
| Rtf1 |
T |
G |
2: 119,559,226 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
A |
12: 103,731,055 (GRCm39) |
R308* |
probably null |
Het |
| Smg7 |
T |
C |
1: 152,719,030 (GRCm39) |
Y899C |
probably benign |
Het |
| Tbr1 |
C |
A |
2: 61,635,336 (GRCm39) |
H95Q |
possibly damaging |
Het |
| Tcf19 |
A |
T |
17: 35,825,380 (GRCm39) |
|
probably null |
Het |
| Timm44 |
T |
A |
8: 4,317,692 (GRCm39) |
R210W |
probably damaging |
Het |
| Trnau1ap |
C |
A |
4: 132,041,331 (GRCm39) |
E194* |
probably null |
Het |
| Trp63 |
G |
A |
16: 25,639,192 (GRCm39) |
G127S |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,735,200 (GRCm39) |
A989V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,600,326 (GRCm39) |
D18988G |
probably damaging |
Het |
| Tubb4b-ps1 |
T |
A |
5: 7,229,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,181 (GRCm39) |
Y97C |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,451,224 (GRCm39) |
C370Y |
probably damaging |
Het |
| Xntrpc |
C |
A |
7: 101,733,492 (GRCm39) |
A147D |
probably damaging |
Het |
| Zc3h4 |
C |
T |
7: 16,159,702 (GRCm39) |
S424F |
unknown |
Het |
| Zcwpw1 |
T |
A |
5: 137,808,376 (GRCm39) |
S275T |
probably damaging |
Het |
| Zfp979 |
C |
T |
4: 147,699,808 (GRCm39) |
C44Y |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,587 (GRCm39) |
H968R |
probably damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,297 (GRCm39) |
V259A |
probably 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 |
|
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 |
Incidental Mutation