Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Zmynd15'

23453

Institutional Source

Beutler Lab

Gene Symbol

Zmynd15

Ensembl Gene

ENSMUSG00000040829

Gene Name

zinc finger, MYND-type containing 15

Synonyms

MMRRC Submission

038455-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70350259-70357028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70355052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 350 (T350A)

Ref Sequence

ENSEMBL: ENSMUSP00000104203 (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: T480A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829
AA Change: T480A

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: T350A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829
AA Change: T350A

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

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,446,591 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,109,519 (GRCm39)	P317L	probably damaging	Het
Abca12	T	A	1: 71,298,972 (GRCm39)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,594 (GRCm39)	I46T	probably benign	Het
Adipoq	T	G	16: 22,965,393 (GRCm39)		probably null	Het
Amy1	A	T	3: 113,363,070 (GRCm39)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,392 (GRCm39)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,363,239 (GRCm39)	G693A	probably damaging	Het
Birc6	T	C	17: 74,887,282 (GRCm39)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,766,463 (GRCm39)	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,076 (GRCm39)	Q525R	possibly damaging	Het
Cd4	T	C	6: 124,844,769 (GRCm39)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,917,066 (GRCm39)	S350P	probably damaging	Het
Cep295	A	T	9: 15,249,509 (GRCm39)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,127,342 (GRCm39)	S279T	probably benign	Het
Clnk	T	A	5: 38,927,282 (GRCm39)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,142,503 (GRCm39)	T64S	probably benign	Het
Crtc1	T	C	8: 70,838,871 (GRCm39)	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,000,795 (GRCm39)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,911,139 (GRCm39)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,348,553 (GRCm39)	I716F	probably damaging	Het
Dsel	T	G	1: 111,789,333 (GRCm39)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,861,746 (GRCm39)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,036,804 (GRCm39)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,768,070 (GRCm39)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,503,786 (GRCm39)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm39)	L6H	probably benign	Het
Grb10	A	C	11: 11,895,583 (GRCm39)	V247G	probably damaging	Het
Gstp2	A	T	19: 4,090,514 (GRCm39)		probably null	Het
Hars2	C	T	18: 36,922,257 (GRCm39)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,220 (GRCm39)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,461,556 (GRCm39)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,209,540 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,450 (GRCm39)	S119P	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,754,636 (GRCm39)	V137A	probably benign	Het
Macrod2	A	T	2: 142,018,545 (GRCm39)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,718,201 (GRCm39)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,265,453 (GRCm39)	K82M	probably benign	Het
Mpzl3	A	G	9: 44,973,458 (GRCm39)	T66A	probably damaging	Het
Msh6	G	A	17: 88,287,788 (GRCm39)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,815,684 (GRCm39)		probably null	Het
Ncr1	G	T	7: 4,343,972 (GRCm39)	C153F	probably damaging	Het
Nf1	T	A	11: 79,359,595 (GRCm39)	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,469,098 (GRCm39)	V786D	probably damaging	Het
Nisch	T	C	14: 30,925,351 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,694 (GRCm39)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or1e32	A	T	11: 73,705,731 (GRCm39)	M59K	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Oxa1l	T	C	14: 54,600,944 (GRCm39)	I139T	probably damaging	Het
P3h3	T	A	6: 124,822,235 (GRCm39)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,711,147 (GRCm39)		probably null	Het
Pcnp	C	T	16: 55,844,896 (GRCm39)		probably benign	Het
Pdzd8	G	T	19: 59,289,563 (GRCm39)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,906,261 (GRCm39)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,295,231 (GRCm39)	V1454G	possibly damaging	Het
Podn	T	C	4: 107,878,695 (GRCm39)	N246D	probably damaging	Het
Prg4	T	C	1: 150,330,243 (GRCm39)		probably benign	Het
R3hdm2	T	C	10: 127,320,390 (GRCm39)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,213,904 (GRCm39)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 39,932,611 (GRCm39)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,560,078 (GRCm39)	I435F	probably damaging	Het
Snx19	A	G	9: 30,344,683 (GRCm39)	D629G	probably damaging	Het
Tomm70a	T	C	16: 56,966,463 (GRCm39)	I472T	probably benign	Het
Trp53	A	G	11: 69,479,506 (GRCm39)	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,863,403 (GRCm39)		probably benign	Het
Ugt1a1	C	T	1: 88,140,277 (GRCm39)	A185V	possibly damaging	Het
Usp28	A	G	9: 48,939,578 (GRCm39)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,260,254 (GRCm39)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 123,041,879 (GRCm39)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,614,835 (GRCm39)	N852D	probably benign	Het
Xrn2	T	A	2: 146,889,580 (GRCm39)	D654E	probably damaging	Het
Yju2	C	A	17: 56,271,653 (GRCm39)	D191E	probably damaging	Het
Zfp335	C	G	2: 164,738,065 (GRCm39)	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,118,390 (GRCm39)	V385M	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGAAAGAACTGGGAGCTAGGAC -3'
(R):5'- CCATGACGAGATCGAATTCCTTGCC -3'

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

Posted On

2013-04-16