Mutagenetix > Incidental Mutation

Incidental Mutation 'R0749:Zmynd10'

70255

Institutional Source

Beutler Lab

Gene Symbol

Zmynd10

Ensembl Gene

ENSMUSG00000010044

Gene Name

zinc finger, MYND domain containing 10

Synonyms

Blu

MMRRC Submission

038929-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.725) question?

Stock #

R0749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107424497-107428518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107425882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 72 (V72A)

Ref Sequence

ENSEMBL: ENSMUSP00000010188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010188] [ENSMUST00000010201] [ENSMUST00000093786] [ENSMUST00000122225] [ENSMUST00000156198] [ENSMUST00000195370] [ENSMUST00000193303]

AlphaFold

Q99ML0

Predicted Effect

probably damaging
Transcript: ENSMUST00000010188
AA Change: V72A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044
AA Change: V72A

Domain	Start	End	E-Value	Type
Pfam:zf-MYND	394	430	1.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000010201

SMART Domains

Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057

Domain	Start	End	E-Value	Type
Pfam:NPR2	5	279	1.7e-75	PFAM
Pfam:NPR2	269	373	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093786

SMART Domains

Protein: ENSMUSP00000091301
Gene: ENSMUSG00000010067

Domain	Start	End	E-Value	Type
C1	44	101	4.7e-7	SMART
low complexity region	168	185	N/A	INTRINSIC
RA	194	288	6.26e-24	SMART
PDB:4LGD\|H	289	334	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000122225

SMART Domains

Protein: ENSMUSP00000113252
Gene: ENSMUSG00000010067

Domain	Start	End	E-Value	Type
C1	44	105	1.92e-3	SMART
low complexity region	172	189	N/A	INTRINSIC
RA	198	292	6.26e-24	SMART
Pfam:Nore1-SARAH	299	338	4.2e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125080

Predicted Effect

probably benign
Transcript: ENSMUST00000156198

SMART Domains

Protein: ENSMUSP00000117722
Gene: ENSMUSG00000010067

Domain	Start	End	E-Value	Type
Blast:C1	44	83	6e-24	BLAST
SCOP:d1ptq__	52	82	5e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195627

Predicted Effect

probably benign
Transcript: ENSMUST00000195370

SMART Domains

Protein: ENSMUSP00000141746
Gene: ENSMUSG00000010057

Domain	Start	End	E-Value	Type
Pfam:NPR2	2	156	1.2e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193303

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aprt	A	T	8: 123,302,149 (GRCm39)	Y105N	probably damaging	Het
Atxn2l	A	T	7: 126,100,009 (GRCm39)	S109T	possibly damaging	Het
Bbs9	T	C	9: 22,486,497 (GRCm39)		probably null	Het
Bmp4	T	C	14: 46,622,070 (GRCm39)	E158G	probably damaging	Het
Btn2a2	T	C	13: 23,662,568 (GRCm39)	*418W	probably null	Het
Cpt1c	A	G	7: 44,612,250 (GRCm39)	Y494H	probably damaging	Het
Cyp3a16	T	A	5: 145,392,987 (GRCm39)		probably null	Het
Dpy19l1	T	A	9: 24,373,880 (GRCm39)	H270L	probably benign	Het
Fdxr	A	G	11: 115,167,671 (GRCm39)	S15P	probably benign	Het
Gm8688	T	G	8: 100,391,152 (GRCm39)		noncoding transcript	Het
Golph3l	G	A	3: 95,515,260 (GRCm39)	R134Q	probably damaging	Het
Hmgxb4	A	G	8: 75,727,565 (GRCm39)	T183A	probably damaging	Het
Krt1c	T	G	15: 101,726,098 (GRCm39)	S147R	unknown	Het
Lipn	T	C	19: 34,054,379 (GRCm39)	S206P	probably damaging	Het
Mcpt2	A	G	14: 56,281,136 (GRCm39)		probably null	Het
Metap2	T	C	10: 93,715,429 (GRCm39)	E133G	probably benign	Het
Nuak1	T	C	10: 84,210,648 (GRCm39)	Y480C	probably damaging	Het
Oma1	C	T	4: 103,182,496 (GRCm39)	Q300*	probably null	Het
Pcnt	T	C	10: 76,217,198 (GRCm39)	E2161G	probably damaging	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Ptdss1	T	A	13: 67,135,914 (GRCm39)	C390*	probably null	Het
Sars1	A	C	3: 108,335,582 (GRCm39)	F389V	possibly damaging	Het
Sec31b	C	T	19: 44,512,945 (GRCm39)	V515M	probably damaging	Het
Syt3	A	G	7: 44,048,571 (GRCm39)	E587G	probably benign	Het
Tjp2	T	C	19: 24,099,636 (GRCm39)	E417G	possibly damaging	Het
Tmem63b	A	G	17: 45,977,041 (GRCm39)	F442S	possibly damaging	Het
Togaram1	A	G	12: 65,029,472 (GRCm39)	D965G	possibly damaging	Het

Other mutations in Zmynd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02007:Zmynd10	APN	9	107,427,731 (GRCm39)	missense	probably damaging	0.96
R0152:Zmynd10	UTSW	9	107,428,144 (GRCm39)	splice site	probably null
R1899:Zmynd10	UTSW	9	107,427,236 (GRCm39)	missense	probably benign	0.20
R1900:Zmynd10	UTSW	9	107,427,236 (GRCm39)	missense	probably benign	0.20
R4111:Zmynd10	UTSW	9	107,426,251 (GRCm39)	nonsense	probably null
R5403:Zmynd10	UTSW	9	107,427,785 (GRCm39)	missense	possibly damaging	0.59
R5468:Zmynd10	UTSW	9	107,427,536 (GRCm39)	missense	probably benign	0.00
R6430:Zmynd10	UTSW	9	107,425,911 (GRCm39)	nonsense	probably null
R6743:Zmynd10	UTSW	9	107,425,079 (GRCm39)	missense	possibly damaging	0.94
R7117:Zmynd10	UTSW	9	107,424,716 (GRCm39)	missense	probably benign	0.22
R7247:Zmynd10	UTSW	9	107,425,976 (GRCm39)	missense	possibly damaging	0.95
R7291:Zmynd10	UTSW	9	107,426,503 (GRCm39)	missense	probably benign	0.00
R8263:Zmynd10	UTSW	9	107,426,516 (GRCm39)	missense	possibly damaging	0.84
R9128:Zmynd10	UTSW	9	107,426,326 (GRCm39)	missense
R9302:Zmynd10	UTSW	9	107,426,516 (GRCm39)	missense	possibly damaging	0.84
R9358:Zmynd10	UTSW	9	107,426,249 (GRCm39)	missense	possibly damaging	0.91
R9763:Zmynd10	UTSW	9	107,425,965 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TCTCCTGCAAGAGAAAGGCAGAGC -3'
(R):5'- AGACAGGGACTGGCTGTTAGCTATC -3'

Sequencing Primer
(F):5'- GCAGAGCTGCCCTAAAGTG -3'
(R):5'- AGCTATCTTTCTCGGCTCAGG -3'

Posted On

2013-09-30