Incidental Mutation 'R6606:Zyg11b'
| ID |
525670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zyg11b
|
| Ensembl Gene |
ENSMUSG00000034636 |
| Gene Name |
zyg-ll family member B, cell cycle regulator |
| Synonyms |
1110046I03Rik, 2810482G21Rik, D4Mgi23, LOC242610 |
| MMRRC Submission |
044729-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.710)
|
| Stock # |
R6606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108086921-108158293 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108093286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 717
(A717V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043616]
|
| AlphaFold |
Q3UFS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043616
AA Change: A717V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043844
Gene: ENSMUSG00000034636
AA Change: A717V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
370 |
722 |
3e-16 |
SMART |
|
Blast:ARM
|
480 |
526 |
1e-17 |
BLAST |
|
Blast:ARM
|
528 |
570 |
3e-19 |
BLAST |
|
Blast:ARM
|
638 |
679 |
3e-10 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,980,769 (GRCm39) |
E21G |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,646 (GRCm39) |
Y511C |
probably benign |
Het |
| Atn1 |
G |
A |
6: 124,721,919 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,730,978 (GRCm39) |
S618R |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,876,010 (GRCm39) |
N517S |
possibly damaging |
Het |
| Chd4 |
C |
A |
6: 125,086,389 (GRCm39) |
T963K |
probably damaging |
Het |
| Crlf1 |
A |
G |
8: 70,953,824 (GRCm39) |
Y310C |
probably damaging |
Het |
| Cyyr1 |
A |
G |
16: 85,254,438 (GRCm39) |
Y155H |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,660,179 (GRCm39) |
I831N |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,189,711 (GRCm39) |
I17V |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,560,931 (GRCm39) |
V28F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,523,921 (GRCm39) |
I651T |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,719,296 (GRCm39) |
Q31R |
possibly damaging |
Het |
| Fbxl17 |
A |
G |
17: 63,794,783 (GRCm39) |
V433A |
probably damaging |
Het |
| Gm20449 |
T |
C |
7: 41,108,253 (GRCm39) |
E39G |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,296 (GRCm39) |
P191L |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,360,658 (GRCm39) |
T731A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,062,829 (GRCm39) |
D371G |
possibly damaging |
Het |
| Or10n1 |
G |
A |
9: 39,525,378 (GRCm39) |
V172M |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,954,851 (GRCm39) |
C303F |
probably damaging |
Het |
| Parp10 |
C |
A |
15: 76,124,308 (GRCm39) |
V782L |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,041,763 (GRCm39) |
S501P |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,265,104 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
C |
6: 23,002,500 (GRCm39) |
H1530P |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,132,801 (GRCm39) |
K18E |
probably damaging |
Het |
| Rit1 |
A |
G |
3: 88,624,945 (GRCm39) |
E48G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rspo3 |
C |
T |
10: 29,330,277 (GRCm39) |
R228K |
unknown |
Het |
| Scai |
A |
T |
2: 38,965,147 (GRCm39) |
S566T |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,218,899 (GRCm39) |
E973G |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,826,046 (GRCm39) |
F246I |
possibly damaging |
Het |
| Stfa3 |
T |
C |
16: 36,275,647 (GRCm39) |
D27G |
possibly damaging |
Het |
| Uba5 |
T |
C |
9: 103,932,420 (GRCm39) |
D181G |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,607,156 (GRCm39) |
T25A |
probably benign |
Het |
| Zbtb43 |
G |
T |
2: 33,345,066 (GRCm39) |
S16Y |
probably damaging |
Het |
|
| Other mutations in Zyg11b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01080:Zyg11b
|
APN |
4 |
108,094,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01143:Zyg11b
|
APN |
4 |
108,102,191 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01627:Zyg11b
|
APN |
4 |
108,107,985 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02517:Zyg11b
|
APN |
4 |
108,123,515 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03166:Zyg11b
|
APN |
4 |
108,123,086 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0326:Zyg11b
|
UTSW |
4 |
108,129,450 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0345:Zyg11b
|
UTSW |
4 |
108,123,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Zyg11b
|
UTSW |
4 |
108,112,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0571:Zyg11b
|
UTSW |
4 |
108,117,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Zyg11b
|
UTSW |
4 |
108,099,273 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1426:Zyg11b
|
UTSW |
4 |
108,108,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1495:Zyg11b
|
UTSW |
4 |
108,123,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Zyg11b
|
UTSW |
4 |
108,123,290 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1907:Zyg11b
|
UTSW |
4 |
108,112,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Zyg11b
|
UTSW |
4 |
108,129,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1980:Zyg11b
|
UTSW |
4 |
108,123,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2070:Zyg11b
|
UTSW |
4 |
108,108,016 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2495:Zyg11b
|
UTSW |
4 |
108,101,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4717:Zyg11b
|
UTSW |
4 |
108,099,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5889:Zyg11b
|
UTSW |
4 |
108,094,577 (GRCm39) |
nonsense |
probably null |
|
|
R5957:Zyg11b
|
UTSW |
4 |
108,102,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Zyg11b
|
UTSW |
4 |
108,102,119 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7316:Zyg11b
|
UTSW |
4 |
108,107,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7488:Zyg11b
|
UTSW |
4 |
108,123,655 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8936:Zyg11b
|
UTSW |
4 |
108,109,356 (GRCm39) |
missense |
|
|
|
R9291:Zyg11b
|
UTSW |
4 |
108,108,014 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9642:Zyg11b
|
UTSW |
4 |
108,117,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Zyg11b
|
UTSW |
4 |
108,093,298 (GRCm39) |
missense |
probably benign |
|
|
X0067:Zyg11b
|
UTSW |
4 |
108,112,543 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Zyg11b
|
UTSW |
4 |
108,112,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATCACAGGACTCTTACCAC -3'
(R):5'- CATGCATGGCCTTTGATGTG -3'
Sequencing Primer
(F):5'- GATCACAGGACTCTTACCACAGACAC -3'
(R):5'- CATGGCCTTTGATGTGTTTTTGCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation