Incidental Mutation 'R1706:Zzz3'
ID |
190057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zzz3
|
Ensembl Gene |
ENSMUSG00000039068 |
Gene Name |
zinc finger, ZZ domain containing 3 |
Synonyms |
6430567E01Rik, 3110065C23Rik |
MMRRC Submission |
039739-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1706 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 152154735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 633
(D633E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q6KAQ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089982
AA Change: D632E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: D632E
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 damaging
Transcript: ENSMUST00000106100
AA Change: D633E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: D633E
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 damaging
Transcript: ENSMUST00000106101
AA Change: D633E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: D633E
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 damaging
Transcript: ENSMUST00000106103
AA Change: D132E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101709 Gene: ENSMUSG00000039068 AA Change: D132E
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 |
possibly damaging
Transcript: ENSMUST00000200570
AA Change: D136E
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143693 Gene: ENSMUSG00000039068 AA Change: D136E
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 |
|
Meta Mutation Damage Score |
0.0844 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,624,059 (GRCm39) |
|
probably benign |
Het |
4931406C07Rik |
G |
A |
9: 15,209,153 (GRCm39) |
T47I |
probably damaging |
Het |
Adcy2 |
T |
A |
13: 68,868,865 (GRCm39) |
N558I |
probably damaging |
Het |
Ago3 |
G |
A |
4: 126,264,085 (GRCm39) |
P374S |
probably damaging |
Het |
Ak8 |
T |
C |
2: 28,650,007 (GRCm39) |
C345R |
possibly damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
BC005624 |
T |
C |
2: 30,868,922 (GRCm39) |
E84G |
possibly damaging |
Het |
Cav1 |
T |
C |
6: 17,339,181 (GRCm39) |
F89L |
probably damaging |
Het |
Cfap206 |
G |
A |
4: 34,688,875 (GRCm39) |
P593L |
probably damaging |
Het |
Clcn6 |
G |
A |
4: 148,102,025 (GRCm39) |
T353I |
probably benign |
Het |
Cstl1 |
G |
A |
2: 148,593,079 (GRCm39) |
|
probably null |
Het |
Cyp2d10 |
A |
C |
15: 82,289,783 (GRCm39) |
S140A |
probably damaging |
Het |
D130052B06Rik |
G |
A |
11: 33,566,230 (GRCm39) |
R18H |
unknown |
Het |
Ddi2 |
A |
G |
4: 141,411,308 (GRCm39) |
F535L |
probably benign |
Het |
Dop1a |
C |
T |
9: 86,436,133 (GRCm39) |
T2383M |
possibly damaging |
Het |
Duox1 |
A |
G |
2: 122,149,953 (GRCm39) |
T115A |
probably benign |
Het |
Ercc6l2 |
T |
A |
13: 64,020,272 (GRCm39) |
|
probably benign |
Het |
Gm7052 |
A |
G |
17: 22,258,823 (GRCm39) |
|
probably benign |
Het |
Gm9925 |
G |
A |
18: 74,198,573 (GRCm39) |
|
probably benign |
Het |
Gnas |
T |
A |
2: 174,141,768 (GRCm39) |
S646T |
possibly damaging |
Het |
Gpatch3 |
T |
A |
4: 133,302,484 (GRCm39) |
C138* |
probably null |
Het |
Igsf8 |
C |
T |
1: 172,144,972 (GRCm39) |
R100C |
probably damaging |
Het |
Kcnh3 |
A |
G |
15: 99,135,959 (GRCm39) |
K652R |
possibly damaging |
Het |
Kcnn4 |
T |
A |
7: 24,074,167 (GRCm39) |
V77E |
probably damaging |
Het |
Kif13b |
T |
A |
14: 64,998,115 (GRCm39) |
|
probably benign |
Het |
Lca5l |
T |
C |
16: 95,977,164 (GRCm39) |
N214S |
probably benign |
Het |
Luc7l3 |
T |
C |
11: 94,188,582 (GRCm39) |
|
probably benign |
Het |
Lypd3 |
T |
C |
7: 24,339,755 (GRCm39) |
I274T |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,264,377 (GRCm39) |
|
probably null |
Het |
Mchr1 |
A |
G |
15: 81,121,364 (GRCm39) |
Y38C |
probably damaging |
Het |
Mia2 |
T |
A |
12: 59,191,552 (GRCm39) |
L716* |
probably null |
Het |
Mki67 |
A |
G |
7: 135,302,295 (GRCm39) |
L913P |
probably benign |
Het |
Mug2 |
T |
A |
6: 122,013,191 (GRCm39) |
|
probably benign |
Het |
Neu3 |
A |
G |
7: 99,472,563 (GRCm39) |
L58P |
probably damaging |
Het |
Or4p23 |
G |
A |
2: 88,576,482 (GRCm39) |
P250L |
probably damaging |
Het |
Or8h9 |
A |
T |
2: 86,789,424 (GRCm39) |
I126N |
probably damaging |
Het |
Pak1ip1 |
T |
C |
13: 41,166,164 (GRCm39) |
V363A |
probably benign |
Het |
Pcdhb16 |
A |
G |
18: 37,612,705 (GRCm39) |
D555G |
probably benign |
Het |
Pygb |
G |
A |
2: 150,669,067 (GRCm39) |
G671D |
probably damaging |
Het |
Rab30 |
A |
T |
7: 92,478,875 (GRCm39) |
I79L |
possibly damaging |
Het |
Rab44 |
C |
A |
17: 29,357,080 (GRCm39) |
T70K |
probably damaging |
Het |
Rccd1 |
C |
G |
7: 79,970,411 (GRCm39) |
G69R |
possibly damaging |
Het |
Sema5b |
T |
C |
16: 35,470,125 (GRCm39) |
V329A |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Slc22a14 |
T |
C |
9: 119,010,050 (GRCm39) |
N15S |
probably benign |
Het |
Smurf2 |
G |
A |
11: 106,715,573 (GRCm39) |
H632Y |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tgm6 |
T |
C |
2: 129,987,079 (GRCm39) |
C516R |
possibly damaging |
Het |
Tmprss9 |
T |
C |
10: 80,734,021 (GRCm39) |
|
probably benign |
Het |
Trim67 |
A |
G |
8: 125,521,160 (GRCm39) |
N174S |
probably damaging |
Het |
Ttc8 |
C |
A |
12: 98,910,142 (GRCm39) |
T123K |
probably benign |
Het |
Ugt1a7c |
T |
A |
1: 88,023,447 (GRCm39) |
M202K |
probably damaging |
Het |
Vmn2r7 |
T |
A |
3: 64,598,880 (GRCm39) |
H559L |
possibly damaging |
Het |
Zfp511 |
A |
G |
7: 139,617,192 (GRCm39) |
D96G |
probably benign |
Het |
Zfp868 |
A |
G |
8: 70,065,060 (GRCm39) |
Y92H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTACACCAATAGCCTTGGGAAC -3'
(R):5'- GGCCACATCTGAAATCCTGGTCAC -3'
Sequencing Primer
(F):5'- TTTGATAAAGGTAAGAACCCACACG -3'
(R):5'- GAAATCCTGGTCACACTTTATAGTGC -3'
|
Posted On |
2014-05-14 |