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 |
Incidental Mutation