Incidental Mutation 'R5349:Zyg11a'
ID |
422761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zyg11a
|
Ensembl Gene |
ENSMUSG00000034645 |
Gene Name |
zyg-11 family member A, cell cycle regulator |
Synonyms |
|
MMRRC Submission |
042928-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R5349 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
108038935-108075245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108040929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 675
(F675I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152477
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043793]
[ENSMUST00000052999]
[ENSMUST00000106690]
[ENSMUST00000116307]
[ENSMUST00000116309]
[ENSMUST00000125647]
[ENSMUST00000223127]
[ENSMUST00000126900]
[ENSMUST00000130942]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043793
AA Change: F673I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038478 Gene: ENSMUSG00000034645 AA Change: F673I
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 |
probably benign
Transcript: ENSMUST00000052999
|
SMART Domains |
Protein: ENSMUSP00000051268 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH_1
|
41 |
296 |
1.1e-60 |
PFAM |
Pfam:ECH_2
|
46 |
225 |
5.1e-35 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106690
AA Change: F675I
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102301 Gene: ENSMUSG00000034645 AA Change: F675I
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 benign
Transcript: ENSMUST00000106691
|
SMART Domains |
Protein: ENSMUSP00000102302 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH_1
|
1 |
119 |
1.6e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116307
|
SMART Domains |
Protein: ENSMUSP00000112009 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH
|
39 |
131 |
6.7e-17 |
PFAM |
Pfam:ECH
|
124 |
257 |
5.3e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116309
|
SMART Domains |
Protein: ENSMUSP00000112011 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH
|
39 |
288 |
3.2e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125647
|
SMART Domains |
Protein: ENSMUSP00000123913 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127392
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133049
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223127
AA Change: F675I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135718
|
SMART Domains |
Protein: ENSMUSP00000114371 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH_1
|
1 |
74 |
9.6e-16 |
PFAM |
Pfam:ECH_2
|
2 |
74 |
1.1e-11 |
PFAM |
Pfam:ECH_1
|
69 |
184 |
2.8e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126900
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130942
|
SMART Domains |
Protein: ENSMUSP00000124746 Gene: ENSMUSG00000028601
Domain | Start | End | E-Value | Type |
Pfam:ECH
|
39 |
103 |
8.6e-13 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
T |
C |
19: 4,917,986 (GRCm39) |
E327G |
possibly damaging |
Het |
Cd209d |
T |
G |
8: 3,928,320 (GRCm39) |
M22L |
probably benign |
Het |
Chrna2 |
T |
C |
14: 66,380,956 (GRCm39) |
V75A |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,450,462 (GRCm39) |
E642G |
possibly damaging |
Het |
Diaph1 |
A |
G |
18: 38,024,125 (GRCm39) |
V571A |
unknown |
Het |
Dip2c |
C |
A |
13: 9,672,689 (GRCm39) |
H1032N |
probably damaging |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,694 (GRCm39) |
D385V |
probably damaging |
Het |
Fbxl3 |
T |
C |
14: 103,333,012 (GRCm39) |
|
probably benign |
Het |
Glb1 |
T |
C |
9: 114,263,529 (GRCm39) |
|
probably null |
Het |
Gm8220 |
T |
C |
14: 44,525,634 (GRCm39) |
I101T |
probably benign |
Het |
Grin2b |
A |
G |
6: 136,021,281 (GRCm39) |
C7R |
possibly damaging |
Het |
Myo15a |
T |
C |
11: 60,384,409 (GRCm39) |
I516T |
probably damaging |
Het |
Nr1i3 |
A |
G |
1: 171,042,641 (GRCm39) |
D89G |
possibly damaging |
Het |
Ogfod1 |
T |
G |
8: 94,781,876 (GRCm39) |
|
probably benign |
Het |
Or4k2 |
G |
T |
14: 50,424,230 (GRCm39) |
S148* |
probably null |
Het |
Pard3 |
G |
T |
8: 128,142,224 (GRCm39) |
D930Y |
probably damaging |
Het |
Pde7b |
C |
T |
10: 20,494,932 (GRCm39) |
C9Y |
probably damaging |
Het |
Pilra |
T |
A |
5: 137,829,488 (GRCm39) |
D192V |
probably damaging |
Het |
Ptprj |
A |
G |
2: 90,301,605 (GRCm39) |
S176P |
probably benign |
Het |
Slc4a2 |
T |
C |
5: 24,640,633 (GRCm39) |
V685A |
possibly damaging |
Het |
Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
Stox2 |
A |
G |
8: 47,740,951 (GRCm39) |
F44L |
possibly damaging |
Het |
Tlr11 |
T |
C |
14: 50,598,337 (GRCm39) |
F108L |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,638,450 (GRCm39) |
I13943M |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,710,856 (GRCm39) |
D2577G |
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 |
R4288:Zyg11a
|
UTSW |
4 |
108,041,666 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- CTCATTTGTTTGGTAGAACACGTTC -3'
(R):5'- CAATGTGCAGTTGTTCCTCC -3'
Sequencing Primer
(F):5'- GCACACTGAATACATACGG -3'
(R):5'- CATGGAGGCATCTTCTCAACTGAG -3'
|
Posted On |
2016-08-04 |