Incidental Mutation 'R8437:Zyg11a'
ID |
654036 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zyg11a
|
Ensembl Gene |
ENSMUSG00000034645 |
Gene Name |
zyg-11 family member A, cell cycle regulator |
Synonyms |
|
MMRRC Submission |
067901-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R8437 (G1)
|
Quality Score |
143.008 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
108038935-108075245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108075103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 6
(H6L)
|
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 damaging
Transcript: ENSMUST00000043793
AA Change: H6L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038478 Gene: ENSMUSG00000034645 AA Change: H6L
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 damaging
Transcript: ENSMUST00000106690
AA Change: H6L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102301 Gene: ENSMUSG00000034645 AA Change: H6L
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: H6L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
T |
C |
7: 78,998,178 (GRCm39) |
Y237H |
probably damaging |
Het |
Adprh |
T |
C |
16: 38,266,449 (GRCm39) |
E231G |
probably benign |
Het |
Anks6 |
T |
C |
4: 47,030,705 (GRCm39) |
S631G |
probably benign |
Het |
Bpifa5 |
T |
A |
2: 154,007,526 (GRCm39) |
L156H |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
C8b |
T |
C |
4: 104,644,040 (GRCm39) |
Y236H |
probably damaging |
Het |
Celf2 |
C |
T |
2: 6,551,956 (GRCm39) |
G508S |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,710,822 (GRCm39) |
T794A |
probably benign |
Het |
Col27a1 |
T |
A |
4: 63,237,701 (GRCm39) |
|
probably benign |
Het |
Cyp2j12 |
C |
T |
4: 95,987,899 (GRCm39) |
C497Y |
probably damaging |
Het |
Dnmt3l |
T |
C |
10: 77,888,602 (GRCm39) |
I168T |
possibly damaging |
Het |
Dtna |
C |
T |
18: 23,723,398 (GRCm39) |
Q201* |
probably null |
Het |
Fetub |
T |
C |
16: 22,752,985 (GRCm39) |
S146P |
possibly damaging |
Het |
Gak |
T |
G |
5: 108,757,272 (GRCm39) |
E242D |
probably benign |
Het |
Gfpt2 |
T |
A |
11: 49,695,694 (GRCm39) |
|
probably benign |
Het |
Ginm1 |
C |
T |
10: 7,646,130 (GRCm39) |
C290Y |
probably benign |
Het |
Hepacam |
T |
C |
9: 37,296,006 (GRCm39) |
S386P |
probably damaging |
Het |
Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
Hnrnpa3 |
T |
G |
2: 75,493,019 (GRCm39) |
S220A |
unknown |
Het |
Hydin |
A |
G |
8: 111,189,367 (GRCm39) |
E1257G |
probably damaging |
Het |
Ier3ip1 |
C |
T |
18: 77,017,874 (GRCm39) |
A18V |
probably damaging |
Het |
Ift140 |
T |
A |
17: 25,313,651 (GRCm39) |
C1361S |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,301,351 (GRCm39) |
Q955R |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,326,277 (GRCm39) |
M1349R |
probably damaging |
Het |
Kcnk4 |
C |
T |
19: 6,903,602 (GRCm39) |
V316I |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,482,695 (GRCm39) |
I501T |
possibly damaging |
Het |
Msl2 |
T |
A |
9: 100,978,167 (GRCm39) |
S180R |
probably benign |
Het |
Muc16 |
C |
T |
9: 18,569,220 (GRCm39) |
V1100I |
unknown |
Het |
Nbas |
T |
C |
12: 13,616,251 (GRCm39) |
V2263A |
possibly damaging |
Het |
Or6b2 |
C |
T |
1: 92,408,187 (GRCm39) |
S52N |
probably benign |
Het |
Or7g33 |
C |
T |
9: 19,448,833 (GRCm39) |
R131H |
probably benign |
Het |
Pdilt |
T |
G |
7: 119,114,109 (GRCm39) |
I130L |
possibly damaging |
Het |
Phldb3 |
A |
G |
7: 24,328,375 (GRCm39) |
T640A |
probably damaging |
Het |
Pole2 |
G |
C |
12: 69,250,961 (GRCm39) |
Y467* |
probably null |
Het |
Pxdn |
C |
T |
12: 30,052,043 (GRCm39) |
T740M |
probably damaging |
Het |
Rabac1 |
T |
C |
7: 24,671,672 (GRCm39) |
I83V |
probably damaging |
Het |
Rrp7a |
T |
C |
15: 83,001,773 (GRCm39) |
Q245R |
probably damaging |
Het |
Sae1 |
A |
G |
7: 16,104,279 (GRCm39) |
V110A |
probably damaging |
Het |
Sema3c |
G |
T |
5: 17,867,936 (GRCm39) |
V116F |
probably damaging |
Het |
Serpina3i |
A |
G |
12: 104,231,963 (GRCm39) |
Y200C |
probably damaging |
Het |
Slc25a45 |
C |
T |
19: 5,930,135 (GRCm39) |
T35M |
probably benign |
Het |
Speer4b |
C |
T |
5: 27,703,818 (GRCm39) |
R107Q |
probably benign |
Het |
Sycp2 |
T |
C |
2: 178,006,651 (GRCm39) |
T843A |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,243,856 (GRCm39) |
I2004F |
probably damaging |
Het |
Tma16 |
T |
C |
8: 66,929,448 (GRCm39) |
D182G |
possibly damaging |
Het |
Topaz1 |
T |
A |
9: 122,610,427 (GRCm39) |
Y1167* |
probably null |
Het |
Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
Usp25 |
A |
G |
16: 76,830,800 (GRCm39) |
T19A |
probably damaging |
Het |
Vpreb1b |
G |
A |
16: 17,798,753 (GRCm39) |
G80S |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,798,332 (GRCm39) |
C2025R |
|
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 |
|
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 |
|
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'- TATGGCTGGGGTTCGAACTC -3'
(R):5'- TACAATGAGGAACGCTGTGC -3'
Sequencing Primer
(F):5'- TTCGAACTCGGGCGCCTTC -3'
(R):5'- CTGTGCGTGCTATGCGAAC -3'
|
Posted On |
2020-10-20 |