Incidental Mutation 'R8490:Zzz3'
ID |
657938 |
Institutional Source |
Beutler Lab
|
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 # |
R8490 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 152134290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 449
(C449*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q6KAQ7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000089982
AA Change: C449*
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: C449*
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 null
Transcript: ENSMUST00000106100
AA Change: C449*
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: C449*
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 null
Transcript: ENSMUST00000106101
AA Change: C449*
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: C449*
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 |
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: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
G |
1: 71,323,256 (GRCm39) |
K1609Q |
probably damaging |
Het |
Arl5a |
A |
G |
2: 52,314,614 (GRCm39) |
F12L |
probably benign |
Het |
Armc9 |
C |
T |
1: 86,202,125 (GRCm39) |
T761I |
probably benign |
Het |
Bmp1 |
A |
G |
14: 70,727,573 (GRCm39) |
F670S |
possibly damaging |
Het |
Cd34 |
T |
C |
1: 194,621,281 (GRCm39) |
V3A |
probably benign |
Het |
Cdkn2a |
A |
T |
4: 89,212,759 (GRCm39) |
M1K |
probably null |
Het |
Cep135 |
C |
A |
5: 76,786,054 (GRCm39) |
H1052Q |
probably benign |
Het |
Cfap100 |
T |
C |
6: 90,390,721 (GRCm39) |
|
probably benign |
Het |
Cib4 |
A |
T |
5: 30,703,075 (GRCm39) |
Y17N |
probably damaging |
Het |
Col3a1 |
T |
G |
1: 45,385,116 (GRCm39) |
S78A |
probably benign |
Het |
Crebzf |
A |
G |
7: 90,092,706 (GRCm39) |
M162V |
probably benign |
Het |
Dbx2 |
T |
A |
15: 95,552,454 (GRCm39) |
M64L |
possibly damaging |
Het |
Epb41l2 |
A |
T |
10: 25,380,128 (GRCm39) |
T884S |
probably damaging |
Het |
Erich3 |
T |
A |
3: 154,401,461 (GRCm39) |
S37T |
|
Het |
Eya1 |
G |
T |
1: 14,254,899 (GRCm39) |
Q383K |
possibly damaging |
Het |
Gm15130 |
A |
T |
2: 110,983,230 (GRCm39) |
|
probably null |
Het |
Ido1 |
A |
T |
8: 25,086,954 (GRCm39) |
M1K |
probably null |
Het |
Loxhd1 |
C |
T |
18: 77,529,162 (GRCm39) |
T1069M |
possibly damaging |
Het |
Lrrtm2 |
T |
G |
18: 35,346,451 (GRCm39) |
|
probably null |
Het |
Map1a |
C |
T |
2: 121,135,045 (GRCm39) |
H1716Y |
possibly damaging |
Het |
Mycbp2 |
T |
A |
14: 103,446,267 (GRCm39) |
T1854S |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,255,351 (GRCm39) |
S1574P |
probably damaging |
Het |
Neu1 |
G |
A |
17: 35,150,982 (GRCm39) |
A78T |
probably benign |
Het |
Nfam1 |
T |
C |
15: 82,907,238 (GRCm39) |
|
probably benign |
Het |
Or1e27-ps1 |
T |
A |
11: 73,555,675 (GRCm39) |
L80Q |
probably damaging |
Het |
Or4c10b |
A |
C |
2: 89,711,511 (GRCm39) |
T114P |
probably damaging |
Het |
Or8k33 |
A |
T |
2: 86,384,027 (GRCm39) |
M147K |
probably benign |
Het |
Pdgfra |
T |
C |
5: 75,331,329 (GRCm39) |
|
probably null |
Het |
Ptgfrn |
A |
T |
3: 100,963,686 (GRCm39) |
M642K |
probably damaging |
Het |
R3hdm1 |
T |
A |
1: 128,162,864 (GRCm39) |
H980Q |
probably benign |
Het |
Rfc2 |
C |
A |
5: 134,611,698 (GRCm39) |
S19* |
probably null |
Het |
Rhbdf1 |
C |
A |
11: 32,160,162 (GRCm39) |
S738I |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,001,011 (GRCm39) |
N1488K |
probably damaging |
Het |
Rnf31 |
G |
A |
14: 55,833,566 (GRCm39) |
V525I |
probably damaging |
Het |
Rps27a |
T |
C |
11: 29,496,719 (GRCm39) |
D58G |
probably benign |
Het |
Serpinc1 |
T |
G |
1: 160,817,028 (GRCm39) |
C41G |
probably damaging |
Het |
Siglece |
A |
T |
7: 43,309,486 (GRCm39) |
V24D |
probably benign |
Het |
Sparcl1 |
T |
A |
5: 104,233,574 (GRCm39) |
R592W |
probably null |
Het |
Stard13 |
A |
G |
5: 150,987,090 (GRCm39) |
S104P |
probably damaging |
Het |
Ston2 |
A |
G |
12: 91,614,905 (GRCm39) |
V501A |
possibly damaging |
Het |
Sv2b |
C |
A |
7: 74,855,833 (GRCm39) |
|
probably null |
Het |
Tiam1 |
T |
C |
16: 89,681,932 (GRCm39) |
R349G |
probably damaging |
Het |
Tmprss11g |
A |
G |
5: 86,639,976 (GRCm39) |
|
probably null |
Het |
Tnik |
G |
T |
3: 28,650,321 (GRCm39) |
R507L |
probably damaging |
Het |
Trabd2b |
G |
T |
4: 114,460,113 (GRCm39) |
S417I |
probably damaging |
Het |
Ube2q1 |
T |
A |
3: 89,681,308 (GRCm39) |
V97E |
probably benign |
Het |
Vim |
A |
T |
2: 13,584,265 (GRCm39) |
N306Y |
probably damaging |
Het |
Vmn1r216 |
G |
T |
13: 23,283,979 (GRCm39) |
A221S |
possibly damaging |
Het |
Vmn2r113 |
G |
A |
17: 23,177,372 (GRCm39) |
A719T |
probably benign |
Het |
Vmn2r66 |
A |
G |
7: 84,654,794 (GRCm39) |
|
probably null |
Het |
Vps45 |
T |
C |
3: 95,948,661 (GRCm39) |
S365G |
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 |
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 |
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'- CTGAGAACTTCACCTCGGAG -3'
(R):5'- AAAGCAGAACGCATGGTTAC -3'
Sequencing Primer
(F):5'- TTCACCTCGGAGGGCGG -3'
(R):5'- TGGTTACCATGGTTACACATACTC -3'
|
Posted On |
2021-01-18 |