Incidental Mutation 'R4531:Zmynd12'
ID |
333105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmynd12
|
Ensembl Gene |
ENSMUSG00000070806 |
Gene Name |
zinc finger, MYND domain containing 12 |
Synonyms |
|
MMRRC Submission |
041771-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R4531 (G1)
|
Quality Score |
179 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
119279881-119311096 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 119280194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000094819
|
SMART Domains |
Protein: ENSMUSP00000092414 Gene: ENSMUSG00000070806
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 |
0.9494 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
T |
C |
5: 121,736,962 (GRCm39) |
T526A |
probably benign |
Het |
Acad12 |
T |
C |
5: 121,736,964 (GRCm39) |
Q525R |
probably benign |
Het |
Cnot3 |
T |
C |
7: 3,661,073 (GRCm39) |
V558A |
probably benign |
Het |
Cntnap4 |
G |
A |
8: 113,537,240 (GRCm39) |
V704M |
possibly damaging |
Het |
Col22a1 |
T |
C |
15: 71,878,998 (GRCm39) |
D53G |
probably damaging |
Het |
Cspp1 |
T |
A |
1: 10,137,072 (GRCm39) |
|
probably benign |
Het |
Cyp2d10 |
T |
A |
15: 82,289,462 (GRCm39) |
T217S |
probably benign |
Het |
Dcaf6 |
T |
C |
1: 165,239,036 (GRCm39) |
T229A |
probably damaging |
Het |
E4f1 |
A |
T |
17: 24,664,961 (GRCm39) |
S408T |
possibly damaging |
Het |
Eif1ad19 |
G |
A |
12: 87,740,314 (GRCm39) |
Q82* |
probably null |
Het |
Gpr149 |
A |
G |
3: 62,510,099 (GRCm39) |
F339L |
probably benign |
Het |
Hmbox1 |
A |
T |
14: 65,062,938 (GRCm39) |
C413S |
probably benign |
Het |
Kmo |
T |
C |
1: 175,487,273 (GRCm39) |
|
probably null |
Het |
Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
Lrpprc |
T |
C |
17: 85,020,215 (GRCm39) |
I1157V |
probably benign |
Het |
Obscn |
A |
G |
11: 58,898,700 (GRCm39) |
|
probably benign |
Het |
Or14c40 |
T |
A |
7: 86,313,479 (GRCm39) |
L203H |
probably benign |
Het |
Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,825,422 (GRCm39) |
D4657G |
unknown |
Het |
Pgd |
T |
C |
4: 149,241,234 (GRCm39) |
K225R |
probably benign |
Het |
Poli |
A |
T |
18: 70,650,548 (GRCm39) |
H297Q |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc24a2 |
T |
C |
4: 86,909,715 (GRCm39) |
I668V |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,939,645 (GRCm39) |
S468P |
probably damaging |
Het |
Trav6-4 |
A |
G |
14: 53,691,790 (GRCm39) |
T3A |
probably benign |
Het |
Trpc2 |
G |
T |
7: 101,745,205 (GRCm39) |
R807L |
probably damaging |
Het |
Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vwce |
A |
C |
19: 10,641,710 (GRCm39) |
E812A |
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 |
|
IGL03287:Zmynd12
|
APN |
4 |
119,310,776 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03138:Zmynd12
|
UTSW |
4 |
119,280,186 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTGCCCTTGAAATCCCGAC -3'
(R):5'- ACAGTAACAGTAGGAGCCCC -3'
Sequencing Primer
(F):5'- TTGAAATCCCGACGTCCG -3'
(R):5'- GTAGGAGCCCCGCAAAACATC -3'
|
Posted On |
2015-08-18 |