Incidental Mutation 'IGL01351:Zmynd15'
| ID |
75357 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70350259-70357028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70354416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 425
(N425K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019064]
[ENSMUST00000039093]
[ENSMUST00000092958]
[ENSMUST00000108563]
[ENSMUST00000126105]
[ENSMUST00000126391]
[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 benign
Transcript: ENSMUST00000039093
AA Change: N426K
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829
AA Change: N426K
| 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 benign
Transcript: ENSMUST00000092958
AA Change: N425K
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090635
Gene: ENSMUSG00000040829
AA Change: N425K
| 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 benign
Transcript: ENSMUST00000108563
AA Change: N296K
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829
AA Change: N296K
| 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 |
probably benign
Transcript: ENSMUST00000126391
|
| SMART Domains |
Protein: ENSMUSP00000133513
Gene: ENSMUSG00000018920
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SCY
|
19 |
81 |
3e-18 |
BLAST |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154475
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,217,565 (GRCm39) |
S336P |
probably benign |
Het |
| Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,466,011 (GRCm39) |
Q1165R |
probably damaging |
Het |
| Angel2 |
C |
A |
1: 190,665,310 (GRCm39) |
N80K |
probably benign |
Het |
| Bmp6 |
T |
C |
13: 38,653,610 (GRCm39) |
S226P |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,383,311 (GRCm39) |
T229A |
probably benign |
Het |
| Cdh12 |
G |
A |
15: 21,237,989 (GRCm39) |
V75M |
probably damaging |
Het |
| Cdh6 |
G |
T |
15: 13,034,326 (GRCm39) |
A778E |
possibly damaging |
Het |
| Corin |
A |
T |
5: 72,496,334 (GRCm39) |
C540S |
probably damaging |
Het |
| Cyfip1 |
C |
A |
7: 55,547,991 (GRCm39) |
Y530* |
probably null |
Het |
| Dock10 |
T |
G |
1: 80,570,876 (GRCm39) |
K327N |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,426,840 (GRCm39) |
|
probably benign |
Het |
| E2f8 |
T |
C |
7: 48,516,899 (GRCm39) |
T827A |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,668,136 (GRCm39) |
V305A |
possibly damaging |
Het |
| Fam170a |
T |
C |
18: 50,414,845 (GRCm39) |
W164R |
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,103,640 (GRCm39) |
D24G |
possibly damaging |
Het |
| Gnmt |
T |
C |
17: 47,037,606 (GRCm39) |
D124G |
probably benign |
Het |
| Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,736,186 (GRCm39) |
I105N |
probably damaging |
Het |
| Hps5 |
C |
T |
7: 46,410,856 (GRCm39) |
M1113I |
probably damaging |
Het |
| Hyal6 |
T |
C |
6: 24,734,178 (GRCm39) |
F37S |
probably damaging |
Het |
| Il17c |
C |
T |
8: 123,148,862 (GRCm39) |
T2I |
probably benign |
Het |
| Lyz1 |
A |
G |
10: 117,127,093 (GRCm39) |
C48R |
probably damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,946 (GRCm39) |
|
probably benign |
Het |
| Pafah1b3 |
G |
A |
7: 24,994,570 (GRCm39) |
R215C |
possibly damaging |
Het |
| Psmb4 |
A |
T |
3: 94,793,538 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,373,944 (GRCm39) |
V5009A |
probably benign |
Het |
| Sema6a |
T |
C |
18: 47,414,369 (GRCm39) |
K494E |
possibly damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,491,777 (GRCm39) |
V17A |
probably benign |
Het |
| Speg |
T |
A |
1: 75,387,920 (GRCm39) |
|
probably benign |
Het |
| Spint1 |
A |
G |
2: 119,076,936 (GRCm39) |
D340G |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,186,258 (GRCm39) |
E819G |
probably benign |
Het |
| Tctn3 |
T |
C |
19: 40,596,081 (GRCm39) |
I309V |
probably benign |
Het |
| Tex19.1 |
T |
A |
11: 121,038,072 (GRCm39) |
D143E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,548 (GRCm39) |
I369V |
probably benign |
Het |
| Tm2d2 |
A |
G |
8: 25,510,573 (GRCm39) |
|
probably benign |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,196 (GRCm39) |
Y2118C |
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 |
|
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 |
|
R6350:Zmynd15
|
UTSW |
11 |
70,355,257 (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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation