Incidental Mutation 'R6350:Zmynd15'
ID |
514159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmynd15
|
Ensembl Gene |
ENSMUSG00000040829 |
Gene Name |
zinc finger, MYND-type containing 15 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R6350 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70350259-70357028 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70355257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 388
(V388A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104203
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019064]
[ENSMUST00000039093]
[ENSMUST00000092958]
[ENSMUST00000108563]
[ENSMUST00000126105]
[ENSMUST00000147289]
|
AlphaFold |
Q8C0R7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019064
|
SMART Domains |
Protein: ENSMUSP00000019064 Gene: ENSMUSG00000018920
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:SCY
|
32 |
94 |
1e-17 |
BLAST |
transmembrane domain
|
201 |
223 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039093
AA Change: V518A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000048816 Gene: ENSMUSG00000040829 AA Change: V518A
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
low complexity region
|
164 |
186 |
N/A |
INTRINSIC |
Pfam:zf-MYND
|
307 |
353 |
6.7e-12 |
PFAM |
low complexity region
|
438 |
452 |
N/A |
INTRINSIC |
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
low complexity region
|
702 |
736 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092958
AA Change: V478A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000090635 Gene: ENSMUSG00000040829 AA Change: V478A
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
low complexity region
|
164 |
186 |
N/A |
INTRINSIC |
Pfam:zf-MYND
|
306 |
352 |
6.5e-11 |
PFAM |
low complexity region
|
437 |
451 |
N/A |
INTRINSIC |
low complexity region
|
483 |
495 |
N/A |
INTRINSIC |
low complexity region
|
662 |
696 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108563
AA Change: V388A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104203 Gene: ENSMUSG00000040829 AA Change: V388A
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
Pfam:zf-MYND
|
177 |
223 |
2.5e-11 |
PFAM |
low complexity region
|
308 |
322 |
N/A |
INTRINSIC |
low complexity region
|
393 |
405 |
N/A |
INTRINSIC |
low complexity region
|
572 |
606 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126105
|
SMART Domains |
Protein: ENSMUSP00000134599 Gene: ENSMUSG00000040829
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136029
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147289
|
SMART Domains |
Protein: ENSMUSP00000136813 Gene: ENSMUSG00000040829
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154475
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] PHENOTYPE: Mice homozygous for a knock-out allele of Cxcl16 and Zmynd15 exhibit abnormal spermiogenesis and reduced male fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
Adam32 |
T |
C |
8: 25,353,445 (GRCm39) |
K715E |
possibly damaging |
Het |
Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
Faap100 |
A |
T |
11: 120,265,406 (GRCm39) |
V490E |
probably damaging |
Het |
Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
Kcnmb1 |
A |
G |
11: 33,914,711 (GRCm39) |
K4R |
probably damaging |
Het |
Larp1 |
T |
A |
11: 57,940,657 (GRCm39) |
D594E |
probably benign |
Het |
Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
Mief1 |
T |
C |
15: 80,133,804 (GRCm39) |
I287T |
probably damaging |
Het |
Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
Nsmce4a |
A |
T |
7: 130,140,829 (GRCm39) |
I219K |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
Or2p2 |
T |
C |
13: 21,256,775 (GRCm39) |
E232G |
probably benign |
Het |
Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
|
Other mutations in Zmynd15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01010:Zmynd15
|
APN |
11 |
70,356,742 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01351:Zmynd15
|
APN |
11 |
70,354,416 (GRCm39) |
missense |
probably benign |
0.28 |
R0086:Zmynd15
|
UTSW |
11 |
70,355,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R0196:Zmynd15
|
UTSW |
11 |
70,355,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R0667:Zmynd15
|
UTSW |
11 |
70,355,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Zmynd15
|
UTSW |
11 |
70,355,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R1660:Zmynd15
|
UTSW |
11 |
70,354,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R1750:Zmynd15
|
UTSW |
11 |
70,353,393 (GRCm39) |
missense |
probably benign |
0.00 |
R4344:Zmynd15
|
UTSW |
11 |
70,351,894 (GRCm39) |
nonsense |
probably null |
|
R4594:Zmynd15
|
UTSW |
11 |
70,355,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R4668:Zmynd15
|
UTSW |
11 |
70,353,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R5029:Zmynd15
|
UTSW |
11 |
70,353,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R5075:Zmynd15
|
UTSW |
11 |
70,352,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R5289:Zmynd15
|
UTSW |
11 |
70,356,830 (GRCm39) |
missense |
unknown |
|
R5468:Zmynd15
|
UTSW |
11 |
70,352,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R6665:Zmynd15
|
UTSW |
11 |
70,355,636 (GRCm39) |
missense |
probably benign |
0.01 |
R7078:Zmynd15
|
UTSW |
11 |
70,351,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R7426:Zmynd15
|
UTSW |
11 |
70,353,014 (GRCm39) |
missense |
probably benign |
0.06 |
R7475:Zmynd15
|
UTSW |
11 |
70,351,867 (GRCm39) |
missense |
probably benign |
|
R7673:Zmynd15
|
UTSW |
11 |
70,356,866 (GRCm39) |
missense |
unknown |
|
R8003:Zmynd15
|
UTSW |
11 |
70,351,767 (GRCm39) |
missense |
probably benign |
0.00 |
R8079:Zmynd15
|
UTSW |
11 |
70,350,278 (GRCm39) |
unclassified |
probably benign |
|
R8536:Zmynd15
|
UTSW |
11 |
70,353,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R8828:Zmynd15
|
UTSW |
11 |
70,355,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R8972:Zmynd15
|
UTSW |
11 |
70,355,065 (GRCm39) |
missense |
possibly damaging |
0.73 |
Z1088:Zmynd15
|
UTSW |
11 |
70,351,961 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCCACTGACGGTGTACTATG -3'
(R):5'- ATGCTGCTGGTCACTCTCAG -3'
Sequencing Primer
(F):5'- ACTGACGGTGTACTATGTCATCAC -3'
(R):5'- TGGTCACTCTCAGGTGGCAG -3'
|
Posted On |
2018-04-27 |