Incidental Mutation 'R7588:Zzz3'
ID |
587247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zzz3
|
Ensembl Gene |
ENSMUSG00000039068 |
Gene Name |
zinc finger, ZZ domain containing 3 |
Synonyms |
6430567E01Rik, 3110065C23Rik |
MMRRC Submission |
045636-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7588 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152128405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 7
(Y7C)
|
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
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068
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
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068
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
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068
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: Y7C
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101709 Gene: ENSMUSG00000039068 AA Change: Y7C
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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2b1 |
T |
A |
11: 83,215,348 (GRCm39) |
D97E |
probably benign |
Het |
Apbb1 |
G |
T |
7: 105,223,173 (GRCm39) |
P146Q |
probably benign |
Het |
Aste1 |
T |
A |
9: 105,274,590 (GRCm39) |
S277T |
possibly damaging |
Het |
Bnip5 |
T |
C |
17: 29,124,430 (GRCm39) |
K291E |
probably benign |
Het |
Cdk15 |
A |
G |
1: 59,383,458 (GRCm39) |
D415G |
possibly damaging |
Het |
Cep152 |
T |
A |
2: 125,411,546 (GRCm39) |
E1256D |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,864,039 (GRCm39) |
N2643S |
probably damaging |
Het |
Copg2 |
A |
G |
6: 30,788,526 (GRCm39) |
|
probably null |
Het |
D130043K22Rik |
T |
A |
13: 25,071,876 (GRCm39) |
I940N |
probably damaging |
Het |
Dnmt3a |
A |
G |
12: 3,946,080 (GRCm39) |
T312A |
possibly damaging |
Het |
Dock5 |
A |
G |
14: 68,000,607 (GRCm39) |
|
probably null |
Het |
Fam83g |
A |
T |
11: 61,575,522 (GRCm39) |
I55F |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,084,017 (GRCm39) |
F780L |
possibly damaging |
Het |
Fhod3 |
G |
T |
18: 25,223,305 (GRCm39) |
A884S |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,516,711 (GRCm39) |
S596G |
probably benign |
Het |
Gns |
T |
C |
10: 121,226,563 (GRCm39) |
V404A |
probably benign |
Het |
Gpatch1 |
T |
C |
7: 34,991,173 (GRCm39) |
N624D |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,532,885 (GRCm39) |
I3099M |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,104,785 (GRCm39) |
S1080R |
possibly damaging |
Het |
Kcnk15 |
T |
C |
2: 163,700,226 (GRCm39) |
V155A |
probably damaging |
Het |
Luzp2 |
T |
A |
7: 54,724,838 (GRCm39) |
|
probably null |
Het |
Mapk8ip1 |
T |
A |
2: 92,216,984 (GRCm39) |
D446V |
possibly damaging |
Het |
Med1 |
T |
C |
11: 98,046,398 (GRCm39) |
E1466G |
unknown |
Het |
Mug1 |
A |
G |
6: 121,852,476 (GRCm39) |
R855G |
probably damaging |
Het |
Naalad2 |
C |
A |
9: 18,262,775 (GRCm39) |
V374F |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Nlrp5 |
A |
G |
7: 23,107,576 (GRCm39) |
E83G |
probably benign |
Het |
Nod2 |
T |
C |
8: 89,401,536 (GRCm39) |
F901S |
possibly damaging |
Het |
Nps |
T |
C |
7: 134,870,508 (GRCm39) |
V10A |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,806,900 (GRCm39) |
V1109E |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,877,246 (GRCm39) |
D267G |
probably damaging |
Het |
Pfkp |
A |
G |
13: 6,698,673 (GRCm39) |
Y15H |
possibly damaging |
Het |
Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
Ppm1b |
T |
C |
17: 85,320,997 (GRCm39) |
S380P |
probably benign |
Het |
Psg21 |
T |
C |
7: 18,381,134 (GRCm39) |
N470D |
probably benign |
Het |
Qrich2 |
T |
C |
11: 116,356,763 (GRCm39) |
N29D |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,090,566 (GRCm39) |
T3431A |
probably benign |
Het |
Rfc1 |
A |
G |
5: 65,429,850 (GRCm39) |
V852A |
probably damaging |
Het |
Rttn |
T |
G |
18: 89,082,353 (GRCm39) |
D1426E |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Styxl1 |
G |
A |
5: 135,799,130 (GRCm39) |
P28L |
probably damaging |
Het |
Tcl1b4 |
A |
G |
12: 105,168,641 (GRCm39) |
|
probably benign |
Het |
Trav17 |
A |
G |
14: 54,044,302 (GRCm39) |
D24G |
probably benign |
Het |
Trim28 |
A |
C |
7: 12,763,347 (GRCm39) |
D496A |
probably damaging |
Het |
Trim29 |
T |
C |
9: 43,246,425 (GRCm39) |
Y574H |
probably damaging |
Het |
Trip12 |
G |
T |
1: 84,738,604 (GRCm39) |
F750L |
probably damaging |
Het |
Ubr3 |
C |
A |
2: 69,801,513 (GRCm39) |
T1007K |
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 |
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 |
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'- GTCAGAGCAAATTGGTAGCATAC -3'
(R):5'- AGGCTTACTGGTCTCGAATTATTC -3'
Sequencing Primer
(F):5'- TTGGTAGCATACGGTAATCTCC -3'
(R):5'- GGTCTCGAATTATTCCAACAGTC -3'
|
Posted On |
2019-10-24 |