Incidental Mutation 'IGL03287:Zmynd12'
| ID |
415770 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zmynd12
|
| Ensembl Gene |
ENSMUSG00000070806 |
| Gene Name |
zinc finger, MYND domain containing 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL03287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
119279881-119311096 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119310776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 328
(E328G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094819]
|
| AlphaFold |
A2BGJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094819
AA Change: E328G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092414
Gene: ENSMUSG00000070806
AA Change: E328G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-MYND
|
17 |
54 |
1.2e-10 |
PFAM |
|
low complexity region
|
70 |
87 |
N/A |
INTRINSIC |
|
Blast:TPR
|
88 |
121 |
2e-14 |
BLAST |
|
Pfam:TPR_8
|
130 |
157 |
3.9e-3 |
PFAM |
|
Pfam:TPR_8
|
172 |
196 |
1.5e-2 |
PFAM |
|
Blast:TPR
|
214 |
247 |
2e-13 |
BLAST |
|
low complexity region
|
305 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134147
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
T |
5: 115,008,237 (GRCm39) |
D17V |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,854,747 (GRCm39) |
V225E |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,826,802 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
A |
G |
5: 30,645,887 (GRCm39) |
L127P |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,210,476 (GRCm39) |
H140R |
probably damaging |
Het |
| Grm8 |
A |
G |
6: 27,760,254 (GRCm39) |
F359L |
possibly damaging |
Het |
| Kat7 |
A |
T |
11: 95,190,935 (GRCm39) |
D150E |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,299,438 (GRCm39) |
I944T |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,330,218 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,639,982 (GRCm39) |
S1142G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,027,335 (GRCm39) |
Y6889H |
probably damaging |
Het |
| Or10ak13 |
A |
G |
4: 118,639,551 (GRCm39) |
V77A |
possibly damaging |
Het |
| Or1e16 |
A |
T |
11: 73,286,845 (GRCm39) |
M1K |
probably null |
Het |
| Plk4 |
A |
T |
3: 40,759,553 (GRCm39) |
I150L |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,318,844 (GRCm39) |
D1598G |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,963,830 (GRCm39) |
K925E |
probably damaging |
Het |
| Slc25a29 |
A |
T |
12: 108,797,135 (GRCm39) |
F22L |
possibly damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,395,312 (GRCm39) |
T80A |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,855,817 (GRCm39) |
V121A |
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,630 (GRCm39) |
D545E |
possibly damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,042,964 (GRCm39) |
Y412C |
probably benign |
Het |
|
| Other mutations in Zmynd12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01603:Zmynd12
|
APN |
4 |
119,299,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02113:Zmynd12
|
APN |
4 |
119,291,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02701:Zmynd12
|
APN |
4 |
119,301,952 (GRCm39) |
splice site |
probably benign |
|
|
IGL03138:Zmynd12
|
UTSW |
4 |
119,280,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4531:Zmynd12
|
UTSW |
4 |
119,280,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5078:Zmynd12
|
UTSW |
4 |
119,302,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Zmynd12
|
UTSW |
4 |
119,299,098 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6995:Zmynd12
|
UTSW |
4 |
119,310,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7707:Zmynd12
|
UTSW |
4 |
119,302,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Zmynd12
|
UTSW |
4 |
119,305,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Zmynd12
|
UTSW |
4 |
119,294,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8952:Zmynd12
|
UTSW |
4 |
119,302,081 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0019:Zmynd12
|
UTSW |
4 |
119,307,565 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1176:Zmynd12
|
UTSW |
4 |
119,280,074 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation