Incidental Mutation 'R4288:Zyg11a'
ID |
322097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zyg11a
|
Ensembl Gene |
ENSMUSG00000034645 |
Gene Name |
zyg-11 family member A, cell cycle regulator |
Synonyms |
|
MMRRC Submission |
041653-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R4288 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
108038935-108075245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 108041666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 658
(S658N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152477
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043793]
[ENSMUST00000106690]
[ENSMUST00000223127]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043793
AA Change: S656N
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000038478 Gene: ENSMUSG00000034645 AA Change: S656N
Domain | Start | End | E-Value | Type |
SCOP:d1jdha_
|
218 |
700 |
2e-11 |
SMART |
Blast:ARM
|
497 |
544 |
1e-5 |
BLAST |
Blast:ARM
|
547 |
587 |
5e-7 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106690
AA Change: S658N
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102301 Gene: ENSMUSG00000034645 AA Change: S658N
Domain | Start | End | E-Value | Type |
SCOP:d1jdha_
|
139 |
621 |
1e-11 |
SMART |
Blast:ARM
|
418 |
465 |
1e-5 |
BLAST |
Blast:ARM
|
468 |
508 |
1e-7 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223127
AA Change: S658N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.0681 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
97% (34/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
G |
A |
1: 127,666,309 (GRCm39) |
V27M |
probably damaging |
Het |
Acsl6 |
A |
G |
11: 54,227,912 (GRCm39) |
T311A |
probably benign |
Het |
Adss2 |
G |
A |
1: 177,604,078 (GRCm39) |
R176W |
probably damaging |
Het |
Akr7a5 |
T |
C |
4: 139,041,415 (GRCm39) |
V108A |
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,246,728 (GRCm39) |
D209G |
possibly damaging |
Het |
Bpnt2 |
A |
C |
4: 4,778,231 (GRCm39) |
V169G |
probably damaging |
Het |
Cdcp1 |
T |
A |
9: 123,012,693 (GRCm39) |
I285F |
probably damaging |
Het |
Ctnna2 |
C |
T |
6: 77,582,204 (GRCm39) |
R339Q |
probably damaging |
Het |
E130308A19Rik |
G |
A |
4: 59,690,308 (GRCm39) |
M47I |
probably benign |
Het |
Exosc9 |
C |
T |
3: 36,617,365 (GRCm39) |
T373I |
probably benign |
Het |
Fat4 |
T |
A |
3: 38,945,912 (GRCm39) |
S1602T |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
Fbxo42 |
T |
C |
4: 140,895,207 (GRCm39) |
Y57H |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
Garin5b |
T |
A |
7: 4,773,722 (GRCm39) |
N58Y |
possibly damaging |
Het |
Gpr37l1 |
A |
G |
1: 135,088,922 (GRCm39) |
V381A |
probably damaging |
Het |
Hc |
G |
T |
2: 34,920,414 (GRCm39) |
A644E |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Lpar5 |
T |
C |
6: 125,058,827 (GRCm39) |
Y183H |
probably benign |
Het |
Ltn1 |
T |
A |
16: 87,194,876 (GRCm39) |
N1341I |
possibly damaging |
Het |
Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
Neb |
T |
G |
2: 52,149,312 (GRCm39) |
E2516D |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,844,951 (GRCm39) |
V614A |
probably damaging |
Het |
Pogk |
A |
G |
1: 166,231,075 (GRCm39) |
L84P |
probably damaging |
Het |
Stard13 |
G |
A |
5: 150,968,642 (GRCm39) |
T994M |
probably damaging |
Het |
Stk4 |
A |
G |
2: 163,941,632 (GRCm39) |
S283G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
Vil1 |
A |
G |
1: 74,457,684 (GRCm39) |
T106A |
probably benign |
Het |
Vmn1r18 |
A |
G |
6: 57,367,392 (GRCm39) |
L54P |
probably damaging |
Het |
Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
probably damaging |
Het |
|
Other mutations in Zyg11a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01458:Zyg11a
|
APN |
4 |
108,062,099 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01517:Zyg11a
|
APN |
4 |
108,058,391 (GRCm39) |
missense |
probably null |
1.00 |
IGL01619:Zyg11a
|
APN |
4 |
108,062,414 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02253:Zyg11a
|
APN |
4 |
108,040,892 (GRCm39) |
missense |
probably null |
0.99 |
R0090:Zyg11a
|
UTSW |
4 |
108,058,544 (GRCm39) |
splice site |
probably benign |
|
R0225:Zyg11a
|
UTSW |
4 |
108,061,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R0610:Zyg11a
|
UTSW |
4 |
108,062,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R0827:Zyg11a
|
UTSW |
4 |
108,067,239 (GRCm39) |
splice site |
probably benign |
|
R1568:Zyg11a
|
UTSW |
4 |
108,040,843 (GRCm39) |
critical splice donor site |
probably null |
|
R1752:Zyg11a
|
UTSW |
4 |
108,062,479 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2051:Zyg11a
|
UTSW |
4 |
108,049,244 (GRCm39) |
splice site |
probably benign |
|
R2358:Zyg11a
|
UTSW |
4 |
108,053,343 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3898:Zyg11a
|
UTSW |
4 |
108,067,391 (GRCm39) |
missense |
probably damaging |
0.99 |
R4381:Zyg11a
|
UTSW |
4 |
108,058,517 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4709:Zyg11a
|
UTSW |
4 |
108,062,268 (GRCm39) |
missense |
probably benign |
0.00 |
R4859:Zyg11a
|
UTSW |
4 |
108,067,387 (GRCm39) |
missense |
probably damaging |
0.98 |
R5303:Zyg11a
|
UTSW |
4 |
108,041,629 (GRCm39) |
critical splice donor site |
probably null |
|
R5349:Zyg11a
|
UTSW |
4 |
108,040,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Zyg11a
|
UTSW |
4 |
108,046,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R5517:Zyg11a
|
UTSW |
4 |
108,061,943 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6175:Zyg11a
|
UTSW |
4 |
108,046,878 (GRCm39) |
missense |
probably benign |
0.01 |
R6254:Zyg11a
|
UTSW |
4 |
108,038,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R6678:Zyg11a
|
UTSW |
4 |
108,046,878 (GRCm39) |
missense |
probably benign |
0.01 |
R7524:Zyg11a
|
UTSW |
4 |
108,049,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R7789:Zyg11a
|
UTSW |
4 |
108,040,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R8022:Zyg11a
|
UTSW |
4 |
108,046,765 (GRCm39) |
critical splice donor site |
probably null |
|
R8437:Zyg11a
|
UTSW |
4 |
108,075,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R8986:Zyg11a
|
UTSW |
4 |
108,041,628 (GRCm39) |
critical splice donor site |
probably null |
|
R9129:Zyg11a
|
UTSW |
4 |
108,039,009 (GRCm39) |
missense |
probably benign |
0.00 |
R9383:Zyg11a
|
UTSW |
4 |
108,046,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R9457:Zyg11a
|
UTSW |
4 |
108,075,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Zyg11a
|
UTSW |
4 |
108,062,376 (GRCm39) |
missense |
probably damaging |
0.96 |
R9511:Zyg11a
|
UTSW |
4 |
108,062,420 (GRCm39) |
missense |
probably damaging |
1.00 |
X0061:Zyg11a
|
UTSW |
4 |
108,051,190 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Zyg11a
|
UTSW |
4 |
108,058,479 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zyg11a
|
UTSW |
4 |
108,061,997 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACAACTGCACATTGTCTCC -3'
(R):5'- TCTAGTTGATGAGGCAGAATGG -3'
Sequencing Primer
(F):5'- GTCTCCCTTCATAAGAAAAACTGAG -3'
(R):5'- ATGAGGCAGAATGGTATGTTTGAG -3'
|
Posted On |
2015-06-20 |