Mutagenetix > Incidental Mutation

Incidental Mutation 'R8972:Zmynd15'

683190

Institutional Source

Beutler Lab

Gene Symbol

Zmynd15

Ensembl Gene

ENSMUSG00000040829

Gene Name

zinc finger, MYND-type containing 15

Synonyms

MMRRC Submission

068806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R8972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70350259-70357028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70355065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 484 (V484A)

Ref Sequence

ENSEMBL: ENSMUSP00000048816 (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

possibly damaging
Transcript: ENSMUST00000039093
AA Change: V484A

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829
AA Change: V484A

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

SMART Domains

Protein: ENSMUSP00000090635
Gene: ENSMUSG00000040829

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

possibly damaging
Transcript: ENSMUST00000108563
AA Change: V354A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829
AA Change: V354A

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

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

0.1241

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (70/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,278,138 (GRCm39)	S3106F	probably damaging	Het
Acss1	G	T	2: 150,484,809 (GRCm39)	R145S	probably damaging	Het
Acss3	T	C	10: 106,920,783 (GRCm39)	Y109C	probably damaging	Het
Adgre4	G	T	17: 56,109,189 (GRCm39)	G399C	probably damaging	Het
Alpk1	A	G	3: 127,473,232 (GRCm39)	S924P	probably damaging	Het
Anapc4	T	A	5: 53,007,884 (GRCm39)	D382E	possibly damaging	Het
Arfgef2	C	T	2: 166,709,253 (GRCm39)	A1110V	possibly damaging	Het
Arhgap20	T	C	9: 51,760,311 (GRCm39)	F721L	probably benign	Het
Arhgef39	T	C	4: 43,497,185 (GRCm39)	S269G	probably benign	Het
Asap2	C	T	12: 21,279,249 (GRCm39)	T377M	probably damaging	Het
Baiap3	G	T	17: 25,466,010 (GRCm39)	A558E	probably benign	Het
Birc6	A	C	17: 75,009,313 (GRCm39)	T4862P	probably benign	Het
Cc2d2a	A	G	5: 43,867,884 (GRCm39)	T843A	probably benign	Het
Ccdc187	A	T	2: 26,171,079 (GRCm39)	D466E	probably benign	Het
Ccdc88a	T	G	11: 29,435,888 (GRCm39)	N1270K	probably benign	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cntn1	T	G	15: 92,150,278 (GRCm39)	Y371D	probably benign	Het
Cpsf1	T	C	15: 76,481,528 (GRCm39)	D1141G	probably damaging	Het
Crebbp	C	T	16: 3,925,935 (GRCm39)	V1193I	probably benign	Het
Csf2ra	A	T	19: 61,213,597 (GRCm39)	S371T	probably null	Het
Csf2rb2	T	C	15: 78,172,115 (GRCm39)	N432D	probably benign	Het
Cul9	A	T	17: 46,854,177 (GRCm39)	L175Q	probably damaging	Het
Dlc1	T	A	8: 37,405,394 (GRCm39)	R132*	probably null	Het
Dock5	C	A	14: 68,013,749 (GRCm39)	L1324F	probably damaging	Het
Dop1a	T	C	9: 86,403,300 (GRCm39)	V36A	possibly damaging	Het
Fap	A	G	2: 62,378,927 (GRCm39)	V158A	probably benign	Het
G2e3	T	A	12: 51,410,277 (GRCm39)	S319T	possibly damaging	Het
Gatd3a	T	C	10: 78,003,323 (GRCm39)	I110V	possibly damaging	Het
Gphn	T	C	12: 78,656,013 (GRCm39)		probably null	Het
Gucy2g	A	G	19: 55,226,406 (GRCm39)	I170T	probably benign	Het
Hmgxb4	T	A	8: 75,748,466 (GRCm39)	W438R	probably damaging	Het
Igkv14-126	G	T	6: 67,873,329 (GRCm39)	G19V	probably damaging	Het
Kansl1l	C	T	1: 66,812,101 (GRCm39)	C506Y	probably damaging	Het
Kif2a	T	C	13: 107,115,543 (GRCm39)	T321A	probably damaging	Het
Krtap6-5	C	T	16: 88,844,607 (GRCm39)	R42H	unknown	Het
Map4	T	A	9: 109,864,185 (GRCm39)	M470K	probably benign	Het
Mill1	T	C	7: 17,996,982 (GRCm39)	V191A	probably benign	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Mkln1	A	T	6: 31,473,681 (GRCm39)	H669L	probably damaging	Het
Mrgprb3	A	T	7: 48,293,422 (GRCm39)	V43E	possibly damaging	Het
Mucl2	T	A	15: 103,927,860 (GRCm39)		probably null	Het
Mybbp1a	T	A	11: 72,337,076 (GRCm39)	I604N	probably benign	Het
Myo18b	T	C	5: 112,841,164 (GRCm39)	T2210A	probably benign	Het
Nlrp4f	T	C	13: 65,330,749 (GRCm39)	I881M	probably benign	Het
Obscn	C	A	11: 58,943,442 (GRCm39)	A4236S	probably benign	Het
Or13a23-ps1	A	T	7: 140,119,038 (GRCm39)	M203L	unknown	Het
Or4a67	A	C	2: 88,598,630 (GRCm39)	F10V	possibly damaging	Het
Or8d1	A	G	9: 38,767,254 (GRCm39)	K299E	probably damaging	Het
Or8d2b	G	A	9: 38,789,150 (GRCm39)	R226H	probably benign	Het
Phc3	T	A	3: 31,015,926 (GRCm39)	Q83L	possibly damaging	Het
Pira2	T	C	7: 3,845,070 (GRCm39)	Y396C	probably damaging	Het
Prss3	T	A	6: 41,353,872 (GRCm39)	I24F	probably damaging	Het
Psg21	T	C	7: 18,381,293 (GRCm39)	N417D	probably benign	Het
Ros1	G	T	10: 51,999,333 (GRCm39)	R1206S	probably benign	Het
Smg9	A	T	7: 24,120,055 (GRCm39)	Q386L	probably benign	Het
Sncb	T	A	13: 54,907,772 (GRCm39)		probably null	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Sorl1	T	A	9: 41,957,848 (GRCm39)	I599F	probably damaging	Het
Sox6	C	A	7: 115,076,218 (GRCm39)	E807*	probably null	Het
Ssu2	G	A	6: 112,360,898 (GRCm39)	A53V	probably benign	Het
Tas2r123	T	C	6: 132,824,333 (GRCm39)	C77R	probably benign	Het
Tcta	T	C	9: 108,181,333 (GRCm39)	R117G	unknown	Het
Tiam1	G	A	16: 89,609,894 (GRCm39)	A1038V	probably damaging	Het
Tram2	A	T	1: 21,074,273 (GRCm39)		probably benign	Het
Tsku	C	A	7: 98,001,704 (GRCm39)	R209L	probably damaging	Het
Twnk	T	C	19: 45,000,149 (GRCm39)	F622L	probably damaging	Het
Ube2t	C	T	1: 134,899,670 (GRCm39)	T106I	probably damaging	Het
Usf1	C	T	1: 171,245,352 (GRCm39)	R255W	probably damaging	Het
Usp28	T	A	9: 48,949,124 (GRCm39)	L906Q	probably null	Het
Vmn2r31	T	A	7: 7,399,654 (GRCm39)	Y101F	probably benign	Het
Vmn2r42	A	G	7: 8,187,331 (GRCm39)	S814P	probably damaging	Het
Wnt2b	T	C	3: 104,858,475 (GRCm39)	R265G	possibly damaging	Het
Zfp62	T	G	11: 49,106,892 (GRCm39)	S328A	possibly damaging	Het
Zfp974	T	C	7: 27,610,589 (GRCm39)	I379V	probably benign	Het
Zzef1	T	C	11: 72,791,499 (GRCm39)	L2201P	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
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
Z1088:Zmynd15	UTSW	11	70,351,961 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- CTAGGACAGAGATCCTGATGGG -3'
(R):5'- AGATCGAATTCCTTGCCAGCC -3'

Sequencing Primer
(F):5'- GACAAAACCTGGTGCCTGAGC -3'
(R):5'- GAATTCCTTGCCAGCCTCCAC -3'

Posted On

2021-10-11