Incidental Mutation 'IGL03138:Zmynd12'
| ID |
453070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmynd12
|
| Ensembl Gene |
ENSMUSG00000070806 |
| Gene Name |
zinc finger, MYND domain containing 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL03138 (G1)
|
| Quality Score |
159 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
119279881-119311096 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119280186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 35
(Y35C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030385]
[ENSMUST00000094819]
[ENSMUST00000106316]
|
| AlphaFold |
A2BGJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030385
|
| SMART Domains |
Protein: ENSMUSP00000030385
Gene: ENSMUSG00000028636
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DFP
|
33 |
96 |
1.2e-9 |
PFAM |
|
Pfam:DFP
|
117 |
276 |
8.5e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094819
AA Change: Y35C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092414
Gene: ENSMUSG00000070806
AA Change: Y35C
| 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 |
probably benign
Transcript: ENSMUST00000106316
|
| SMART Domains |
Protein: ENSMUSP00000101923
Gene: ENSMUSG00000028636
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DFP
|
1 |
107 |
5.2e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134147
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140641
|
| Meta Mutation Damage Score |
0.5354 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Casd1 |
A |
G |
6: 4,613,236 (GRCm39) |
H118R |
probably damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
T |
C |
13: 93,201,850 (GRCm39) |
K3371E |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dpysl3 |
T |
C |
18: 43,458,859 (GRCm39) |
T632A |
probably benign |
Het |
| Elapor1 |
T |
A |
3: 108,379,309 (GRCm39) |
N392Y |
probably benign |
Het |
| Fbh1 |
T |
C |
2: 11,754,320 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,325,951 (GRCm39) |
|
probably benign |
Het |
| Gm4876 |
T |
G |
6: 17,171,736 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin-ps6 |
G |
T |
7: 106,023,650 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Inhba |
T |
A |
13: 16,192,099 (GRCm39) |
D73E |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,519,791 (GRCm39) |
N1717D |
possibly damaging |
Het |
| Knl1 |
G |
T |
2: 118,902,840 (GRCm39) |
V1514F |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,562,334 (GRCm39) |
A2459T |
unknown |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Pias2 |
T |
C |
18: 77,237,796 (GRCm39) |
|
probably null |
Het |
| Polr1b |
T |
C |
2: 128,944,908 (GRCm39) |
F68S |
probably benign |
Het |
| Skic8 |
T |
C |
9: 54,635,447 (GRCm39) |
|
probably benign |
Het |
| Slamf1 |
C |
A |
1: 171,604,652 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Tpo |
T |
C |
12: 30,124,170 (GRCm39) |
T877A |
probably benign |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Vmn1r37 |
A |
G |
6: 66,709,172 (GRCm39) |
K229R |
possibly damaging |
Het |
| Wdr17 |
T |
C |
8: 55,102,178 (GRCm39) |
D947G |
probably damaging |
Het |
| Wiz |
G |
T |
17: 32,578,093 (GRCm39) |
T473K |
probably damaging |
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 |
|
|
IGL03287:Zmynd12
|
APN |
4 |
119,310,776 (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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCCTTGAAATCCCGACG -3'
(R):5'- AAGGGTTTGCAACACAGTAAC -3'
Sequencing Primer
(F):5'- TGGCCCGTGGTTGTCAC -3'
(R):5'- CAGTAACAGTAGGAGCCCCG -3'
|
| Posted On |
2017-01-27 |
Incidental Mutation