Incidental Mutation 'R1426:Zyg11b'
| ID |
162242 |
| 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 |
039482-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.710)
|
| Stock # |
R1426 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108086921-108158293 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108108009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 466
(R466C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043616]
|
| AlphaFold |
Q3UFS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043616
AA Change: R466C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043844
Gene: ENSMUSG00000034636
AA Change: R466C
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,361 (GRCm39) |
V214E |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,992,556 (GRCm39) |
D224G |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Brat1 |
G |
A |
5: 140,703,768 (GRCm39) |
V674I |
probably benign |
Het |
| Brd2 |
ATCTTCTTC |
ATCTTC |
17: 34,332,981 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,429,178 (GRCm39) |
D438G |
possibly damaging |
Het |
| Cyp4x1 |
T |
A |
4: 114,969,988 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,115,654 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,927,942 (GRCm39) |
D206G |
probably benign |
Het |
| Elovl7 |
T |
A |
13: 108,419,028 (GRCm39) |
I220N |
possibly damaging |
Het |
| Gsto1 |
A |
G |
19: 47,846,381 (GRCm39) |
E76G |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,509,858 (GRCm39) |
W12R |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,518 (GRCm39) |
C260S |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,614,155 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,697,728 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,610,839 (GRCm39) |
Q525L |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,137 (GRCm39) |
I164T |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,023,795 (GRCm39) |
K1527* |
probably null |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,320,737 (GRCm39) |
|
probably benign |
Het |
| Or5an1c |
G |
T |
19: 12,218,546 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,559 (GRCm39) |
C95S |
probably damaging |
Het |
| Pafah1b3 |
T |
C |
7: 24,996,560 (GRCm39) |
E41G |
possibly damaging |
Het |
| Pnma8a |
C |
T |
7: 16,694,909 (GRCm39) |
P255S |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,012,987 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
A |
T |
2: 152,169,161 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
A |
G |
19: 7,248,395 (GRCm39) |
S137G |
possibly damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,596,804 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,391,808 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,790,472 (GRCm39) |
|
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,655 (GRCm39) |
I344N |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,429,236 (GRCm39) |
F284L |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,470,220 (GRCm39) |
M699T |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,968 (GRCm39) |
H472R |
possibly damaging |
Het |
| Zfp786 |
A |
G |
6: 47,802,013 (GRCm39) |
V88A |
probably benign |
Het |
| Zkscan7 |
T |
C |
9: 122,724,228 (GRCm39) |
I399T |
probably benign |
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 |
|
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 |
|
R6606:Zyg11b
|
UTSW |
4 |
108,093,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CAAGGGCCAGTAAACTTACCCTGAC -3'
(R):5'- GTCCCAAGTTGCACCATCGACC -3'
Sequencing Primer
(F):5'- TGAGTTTACTACAGACTGCCG -3'
(R):5'- CCACATCTGGCTCCCTGAAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation