Mutagenetix > Incidental Mutation

Incidental Mutation 'R0667:Zmynd15'

218551

Institutional Source

Beutler Lab

Gene Symbol

Zmynd15

Ensembl Gene

ENSMUSG00000040829

Gene Name

zinc finger, MYND-type containing 15

Synonyms

MMRRC Submission

038852-MU

Accession Numbers

Essential gene?

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

Stock #

R0667 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70350259-70357028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70355944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 481 (G481C)

Ref Sequence

ENSEMBL: ENSMUSP00000104203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039093] [ENSMUST00000092958] [ENSMUST00000108563] [ENSMUST00000126105] [ENSMUST00000147289]

AlphaFold

Q8C0R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000039093
AA Change: G611C

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

SMART Domains

Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829
AA Change: G611C

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: G571C

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

SMART Domains

Protein: ENSMUSP00000090635
Gene: ENSMUSG00000040829
AA Change: G571C

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: G481C

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

SMART Domains

Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829
AA Change: G481C

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

noncoding transcript
Transcript: ENSMUST00000136029

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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	T	11: 110,218,637 (GRCm39)	N76K	probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Atad2	A	G	15: 57,962,115 (GRCm39)	S1143P	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Cand1	A	G	10: 119,052,425 (GRCm39)	S234P	probably benign	Het
Cd200	T	A	16: 45,215,220 (GRCm39)	I144L	probably benign	Het
Cep76	A	T	18: 67,767,848 (GRCm39)	L228Q	possibly damaging	Het
Col12a1	A	G	9: 79,535,744 (GRCm39)	L2584S	probably damaging	Het
Col6a3	A	C	1: 90,755,823 (GRCm39)	D155E	probably damaging	Het
Col6a4	G	A	9: 105,907,158 (GRCm39)		probably benign	Het
Dsg2	A	C	18: 20,706,556 (GRCm39)	D24A	possibly damaging	Het
Gm5901	G	A	7: 105,026,697 (GRCm39)	S155N	possibly damaging	Het
Hkdc1	T	C	10: 62,247,644 (GRCm39)		probably benign	Het
Kansl1	A	G	11: 104,234,364 (GRCm39)	V714A	probably benign	Het
Kcnh1	T	A	1: 192,188,346 (GRCm39)	S936T	probably benign	Het
Klhdc3	A	T	17: 46,988,151 (GRCm39)	F205I	probably benign	Het
Krt31	T	A	11: 99,938,951 (GRCm39)	H290L	probably benign	Het
Lama2	T	A	10: 27,220,406 (GRCm39)		probably null	Het
Mep1a	T	G	17: 43,789,081 (GRCm39)	D565A	probably benign	Het
Mgme1	T	A	2: 144,120,907 (GRCm39)		probably benign	Het
Mtf2	C	T	5: 108,252,369 (GRCm39)	T409I	probably damaging	Het
Mylk3	A	G	8: 86,081,794 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,559,338 (GRCm39)	E650G	probably damaging	Het
Nipbl	A	C	15: 8,390,488 (GRCm39)	D260E	possibly damaging	Het
Nufip2	T	A	11: 77,582,839 (GRCm39)	V251D	possibly damaging	Het
Or2n1e	C	A	17: 38,586,048 (GRCm39)	P129T	probably damaging	Het
Or4a2	T	C	2: 89,248,032 (GRCm39)	I242V	probably benign	Het
Or7g35	T	A	9: 19,496,743 (GRCm39)	N303K	probably benign	Het
Osm	G	T	11: 4,189,918 (GRCm39)	R234L	possibly damaging	Het
Pabpc1	G	A	15: 36,598,275 (GRCm39)	A515V	probably benign	Het
Piwil1	T	A	5: 128,818,542 (GRCm39)		probably null	Het
Pld1	A	G	3: 28,133,327 (GRCm39)		probably null	Het
Plekhg3	C	T	12: 76,623,372 (GRCm39)	R871C	probably damaging	Het
Ppfia2	A	T	10: 106,749,555 (GRCm39)	Y1147F	probably damaging	Het
Prmt3	A	G	7: 49,441,743 (GRCm39)	Y240C	probably damaging	Het
Prr36	G	T	8: 4,266,311 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 75,875,583 (GRCm39)	I908T	probably damaging	Het
Sae1	A	T	7: 16,102,457 (GRCm39)	N172K	probably damaging	Het
Satb1	T	G	17: 52,089,889 (GRCm39)	Q319H	probably damaging	Het
Scart2	C	G	7: 139,841,450 (GRCm39)	S251R	possibly damaging	Het
Scn2a	A	T	2: 65,582,340 (GRCm39)	I1563F	possibly damaging	Het
Scn3a	C	A	2: 65,314,755 (GRCm39)	R1102L	probably null	Het
Serpinb9b	T	A	13: 33,216,909 (GRCm39)	L60*	probably null	Het
Setd1a	A	G	7: 127,385,765 (GRCm39)	D281G	probably damaging	Het
Slc8a1	C	A	17: 81,956,310 (GRCm39)	V243F	probably damaging	Het
Tgfbr3	A	T	5: 107,325,716 (GRCm39)	H115Q	probably benign	Het
Tiam1	C	A	16: 89,694,872 (GRCm39)	S195I	probably damaging	Het
Tjp2	A	G	19: 24,086,113 (GRCm39)	V803A	probably benign	Het
Ttc5	T	A	14: 51,003,415 (GRCm39)	Q423L	probably benign	Het
Tyk2	A	C	9: 21,020,167 (GRCm39)	V997G	probably damaging	Het
Uhrf1	T	C	17: 56,617,677 (GRCm39)	V133A	probably benign	Het
Vmn2r107	A	C	17: 20,575,916 (GRCm39)	Y82S	possibly damaging	Het
Vmn2r93	T	C	17: 18,546,503 (GRCm39)	F792L	probably damaging	Het
Vps13c	G	A	9: 67,858,855 (GRCm39)	W2768*	probably null	Het
Zfp456	A	T	13: 67,514,861 (GRCm39)	C282S	probably benign	Het
Zhx1	T	C	15: 57,916,561 (GRCm39)	N562D	possibly 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
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'- GACCCAAGCCTGACCTGGTTATTG -3'
(R):5'- GCCATAGTCTGATCGTCCATCACAC -3'

Sequencing Primer
(F):5'- AGAGCCTGGGGTTCATGAAT -3'
(R):5'- ACTGCTCTCAGTGAAGAATGC -3'

Posted On

2014-08-18