Mutagenetix > Incidental Mutation

Incidental Mutation 'R8828:Zmynd15'

673622

Institutional Source

Beutler Lab

Gene Symbol

Zmynd15

Ensembl Gene

ENSMUSG00000040829

Gene Name

zinc finger, MYND-type containing 15

Synonyms

MMRRC Submission

068730-MU

Accession Numbers

Essential gene?

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

Stock #

R8828 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70350259-70357028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70355017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 468 (D468V)

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

probably damaging
Transcript: ENSMUST00000039093
AA Change: D468V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829
AA Change: D468V

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

probably damaging
Transcript: ENSMUST00000108563
AA Change: D338V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829
AA Change: D338V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,507,455 (GRCm39)	Y1091F	probably damaging	Het
Arl8b	A	G	6: 108,792,250 (GRCm39)	I104V	probably benign	Het
Asb2	C	A	12: 103,304,457 (GRCm39)	G16C	probably benign	Het
Bptf	T	C	11: 106,945,836 (GRCm39)	S2468G	probably damaging	Het
Capns1	T	A	7: 29,889,963 (GRCm39)	D182V	probably damaging	Het
Cct5	T	C	15: 31,594,658 (GRCm39)	H182R	possibly damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Chd3	C	T	11: 69,247,097 (GRCm39)	V1024I	probably damaging	Het
Chd8	CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG	C	14: 52,448,037 (GRCm39)		probably null	Het
Csmd1	T	C	8: 16,048,794 (GRCm39)	S2303G	probably benign	Het
Ctsl	A	G	13: 64,514,314 (GRCm39)	S255P	probably damaging	Het
Dclre1c	T	G	2: 3,444,714 (GRCm39)	N268K	possibly damaging	Het
Dock10	T	C	1: 80,521,134 (GRCm39)	D1158G	probably damaging	Het
Dock6	A	T	9: 21,757,797 (GRCm39)	D102E	probably benign	Het
Dvl3	T	A	16: 20,344,495 (GRCm39)	D290E	probably damaging	Het
Fam72a	T	A	1: 131,458,461 (GRCm39)	C74*	probably null	Het
Gnrh1	T	A	14: 67,985,334 (GRCm39)	L73Q	probably damaging	Het
Grina	T	A	15: 76,132,497 (GRCm39)	S115T	probably damaging	Het
Grm3	A	T	5: 9,554,725 (GRCm39)	S856T	probably benign	Het
Hars1	C	A	18: 36,899,996 (GRCm39)	R490L	possibly damaging	Het
Ide	T	A	19: 37,292,241 (GRCm39)	K318I		Het
Immt	C	A	6: 71,829,762 (GRCm39)	S156*	probably null	Het
Iqcd	A	G	5: 120,738,232 (GRCm39)	I17V	possibly damaging	Het
Klhdc1	T	C	12: 69,298,808 (GRCm39)	V131A	probably damaging	Het
Klk6	C	A	7: 43,478,061 (GRCm39)	N144K		Het
Klk6	T	C	7: 43,478,062 (GRCm39)	C145R	probably damaging	Het
Lrfn2	A	T	17: 49,404,132 (GRCm39)	T752S	probably damaging	Het
Lrguk	A	C	6: 34,080,572 (GRCm39)	Q1269P	unknown	Het
Lrwd1	G	T	5: 136,164,787 (GRCm39)	Q7K	probably benign	Het
Macf1	A	T	4: 123,302,204 (GRCm39)	M766K	probably benign	Het
Myo3a	A	T	2: 22,245,864 (GRCm39)	T4S	probably benign	Het
Neb	T	C	2: 52,084,438 (GRCm39)	Y5587C	probably damaging	Het
Nf1	A	T	11: 79,286,679 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,131,823 (GRCm39)	R344S	probably damaging	Het
Nudt16l2	C	T	9: 105,021,648 (GRCm39)	D133N	probably damaging	Het
Or52p1	A	T	7: 104,267,486 (GRCm39)	Y200F	probably damaging	Het
Or5v1b	A	G	17: 37,841,333 (GRCm39)	N155S	probably damaging	Het
Pcnx1	T	A	12: 82,042,597 (GRCm39)	W2286R	probably damaging	Het
Ppm1g	A	T	5: 31,365,768 (GRCm39)	N51K	probably benign	Het
Ppp1r13b	T	C	12: 111,799,981 (GRCm39)	K722E	probably damaging	Het
Prim1	A	G	10: 127,859,761 (GRCm39)	S318G	probably damaging	Het
Prl4a1	T	C	13: 28,207,307 (GRCm39)	Y194H	probably damaging	Het
Prl7c1	A	T	13: 27,957,854 (GRCm39)	D195E	probably benign	Het
Psmb2	A	G	4: 126,603,330 (GRCm39)	D186G	probably benign	Het
Ptprq	A	G	10: 107,482,513 (GRCm39)	V1020A	probably benign	Het
Scgb2b20	T	C	7: 33,065,689 (GRCm39)	T13A	unknown	Het
Scly	C	A	1: 91,244,830 (GRCm39)	H310Q	possibly damaging	Het
Sdccag8	G	A	1: 176,783,473 (GRCm39)	E661K	probably damaging	Het
Sema4f	G	A	6: 82,894,873 (GRCm39)	L441F	probably benign	Het
Sema4f	A	C	6: 82,894,874 (GRCm39)	Y440*	probably null	Het
Tmem262	C	T	19: 6,130,118 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,236,392 (GRCm39)	T501A	probably damaging	Het
Trio	C	A	15: 27,741,150 (GRCm39)	V2692F	possibly damaging	Het
Ttn	A	T	2: 76,772,774 (GRCm39)	V2453E	unknown	Het
Ttn	G	T	2: 76,541,956 (GRCm39)	R33677S	probably benign	Het
Uaca	T	A	9: 60,778,852 (GRCm39)	S1080T	probably benign	Het
Vav3	T	A	3: 109,555,051 (GRCm39)	C660S	probably benign	Het
Vmn1r229	T	A	17: 21,034,990 (GRCm39)	D78E	probably damaging	Het
Vmn2r73	A	G	7: 85,521,179 (GRCm39)	V263A	probably damaging	Het
Yeats2	A	T	16: 19,969,260 (GRCm39)	D17V	probably benign	Het
Zfp658	T	A	7: 43,222,240 (GRCm39)	W172R	probably benign	Het
Zfp804a	A	C	2: 82,089,459 (GRCm39)	H1096P	possibly damaging	Het
Zkscan14	C	T	5: 145,138,375 (GRCm39)	W37*	probably null	Het
Zmynd8	A	T	2: 165,654,466 (GRCm39)	V682E	probably benign	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
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'- TCCTGAAAGAACTGGGAGCTAG -3'
(R):5'- GATCGAATTCCTTGCCAGCC -3'

Sequencing Primer
(F):5'- GCTAGGACAGAGATCCTGATG -3'
(R):5'- ACCACGTGGATCTTCAGGGATTG -3'

Posted On

2021-07-15