Incidental Mutation 'R5029:Zmynd15'
| ID |
391571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmynd15
|
| Ensembl Gene |
ENSMUSG00000040829 |
| Gene Name |
zinc finger, MYND-type containing 15 |
| Synonyms |
|
| MMRRC Submission |
042620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R5029 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70350259-70357028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 70353387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 334
(C334F)
|
| 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 damaging
Transcript: ENSMUST00000039093
AA Change: C335F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829
AA Change: C335F
| 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: C334F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090635
Gene: ENSMUSG00000040829
AA Change: C334F
| 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: C205F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829
AA Change: C205F
| 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 |
|
| Meta Mutation Damage Score |
0.7874 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (61/63) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,127 (GRCm39) |
M154K |
probably benign |
Het |
| Ank |
T |
C |
15: 27,590,439 (GRCm39) |
V341A |
probably benign |
Het |
| Bnip3 |
T |
A |
7: 138,499,848 (GRCm39) |
|
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,931 (GRCm39) |
K4E |
possibly damaging |
Het |
| Cbs |
T |
A |
17: 31,834,456 (GRCm39) |
Q511L |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,897 (GRCm39) |
H109R |
possibly damaging |
Het |
| Cdh4 |
T |
A |
2: 179,523,742 (GRCm39) |
V440D |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,054,962 (GRCm39) |
N109S |
probably damaging |
Het |
| Dact2 |
A |
T |
17: 14,416,114 (GRCm39) |
S695R |
probably benign |
Het |
| Defa21 |
A |
T |
8: 21,516,381 (GRCm39) |
E75V |
probably damaging |
Het |
| Dimt1 |
A |
G |
13: 107,093,630 (GRCm39) |
D274G |
probably null |
Het |
| Dstyk |
G |
T |
1: 132,377,062 (GRCm39) |
V223L |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,444 (GRCm39) |
S616T |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,515,769 (GRCm39) |
I1619F |
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,926,341 (GRCm39) |
Y83F |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hpx |
T |
G |
7: 105,240,971 (GRCm39) |
Y434S |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,158,981 (GRCm39) |
D451G |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,879,417 (GRCm39) |
|
probably benign |
Het |
| Jph1 |
T |
A |
1: 17,161,615 (GRCm39) |
N349I |
possibly damaging |
Het |
| Klrg1 |
A |
G |
6: 122,259,694 (GRCm39) |
L26P |
probably benign |
Het |
| M1ap |
A |
C |
6: 82,980,813 (GRCm39) |
D233A |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,393,946 (GRCm39) |
S2762P |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,023,489 (GRCm39) |
Q1556L |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,972,123 (GRCm39) |
D1428G |
probably damaging |
Het |
| Ndc80 |
A |
C |
17: 71,815,760 (GRCm39) |
C342G |
probably benign |
Het |
| Nxn |
A |
C |
11: 76,165,356 (GRCm39) |
Y199* |
probably null |
Het |
| Or6c206 |
T |
A |
10: 129,097,707 (GRCm39) |
N292K |
probably benign |
Het |
| Or7c19 |
C |
T |
8: 85,957,835 (GRCm39) |
A237V |
probably benign |
Het |
| Or8j3b |
A |
G |
2: 86,205,234 (GRCm39) |
I174T |
probably damaging |
Het |
| Pacs1 |
A |
G |
19: 5,192,299 (GRCm39) |
F691L |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,899,864 (GRCm39) |
V232A |
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,936,113 (GRCm39) |
M773K |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,943,723 (GRCm39) |
Y1937H |
probably damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,693,304 (GRCm39) |
T603N |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,662 (GRCm39) |
Y119C |
probably damaging |
Het |
| Saraf |
G |
T |
8: 34,628,412 (GRCm39) |
R86L |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stpg3 |
T |
C |
2: 25,104,576 (GRCm39) |
N13S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,177,273 (GRCm39) |
D50E |
possibly damaging |
Het |
| Tlr1 |
T |
A |
5: 65,083,024 (GRCm39) |
N518Y |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,719,993 (GRCm39) |
|
probably null |
Het |
| Tomm70a |
T |
A |
16: 56,942,514 (GRCm39) |
L97Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,173 (GRCm39) |
V809E |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,852 (GRCm39) |
I914V |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,333,097 (GRCm39) |
H291Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGAGCAGTTGGCCAAACC -3'
(R):5'- TATCAAAGACCCGGTCCCAG -3'
Sequencing Primer
(F):5'- AGCAAGCCAGGCCAGTG -3'
(R):5'- AAACTTGCCAGTTCTCCG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation