Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02007:Zmynd10'

182256

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zmynd10

Ensembl Gene

ENSMUSG00000010044

Gene Name

zinc finger, MYND domain containing 10

Synonyms

Blu

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

IGL02007

Quality Score

Status

Chromosome

Chromosomal Location

107424497-107428518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107427731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 345 (N345S)

Ref Sequence

ENSEMBL: ENSMUSP00000010188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010188] [ENSMUST00000010201] [ENSMUST00000010211] [ENSMUST00000093786] [ENSMUST00000122225] [ENSMUST00000156198] [ENSMUST00000193303]

AlphaFold

Q99ML0

Predicted Effect

probably damaging
Transcript: ENSMUST00000010188
AA Change: N345S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044
AA Change: N345S

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: ENSMUST00000010211

SMART Domains

Protein: ENSMUSP00000010211
Gene: ENSMUSG00000010067

Domain	Start	End	E-Value	Type
low complexity region	98	115	N/A	INTRINSIC
RA	124	218	6.26e-24	SMART
PDB:4LGD\|H	219	264	3e-13	PDB

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: ENSMUST00000191832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193628

Predicted Effect

probably benign
Transcript: ENSMUST00000193303

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	C	A	14: 68,870,668 (GRCm39)	R335L	possibly damaging	Het
Adgrv1	T	C	13: 81,716,862 (GRCm39)		probably benign	Het
Calcrl	A	G	2: 84,205,668 (GRCm39)	C8R	probably benign	Het
Cntn4	T	A	6: 106,632,490 (GRCm39)	S505T	probably benign	Het
Cyp3a16	T	C	5: 145,378,758 (GRCm39)		probably benign	Het
Dync2i2	A	G	2: 29,928,402 (GRCm39)	S75P	probably benign	Het
Fhip1a	G	T	3: 85,629,752 (GRCm39)	P280T	probably damaging	Het
Gpatch11	A	G	17: 79,149,593 (GRCm39)	T198A	probably benign	Het
H2-T15	G	T	17: 36,367,222 (GRCm39)	N333K	possibly damaging	Het
Heatr5a	C	A	12: 51,962,941 (GRCm39)	L986F	probably damaging	Het
Ift172	A	G	5: 31,443,948 (GRCm39)	I90T	probably benign	Het
Igkv3-9	A	G	6: 70,565,445 (GRCm39)		probably benign	Het
Iqsec1	G	A	6: 90,667,331 (GRCm39)	P369S	probably benign	Het
Myh1	C	A	11: 67,111,382 (GRCm39)	T1607K	probably benign	Het
Myo18b	T	C	5: 113,022,838 (GRCm39)		probably benign	Het
Nobox	A	G	6: 43,284,472 (GRCm39)	L58P	probably damaging	Het
Nwd2	T	A	5: 63,962,042 (GRCm39)	I542N	possibly damaging	Het
Or4k51	A	G	2: 111,584,824 (GRCm39)	T77A	probably damaging	Het
Or5p54	A	G	7: 107,553,953 (GRCm39)	Y35C	probably damaging	Het
Osm	C	T	11: 4,189,470 (GRCm39)	R85W	probably damaging	Het
Pcdh20	T	C	14: 88,707,031 (GRCm39)	R90G	probably benign	Het
Pkhd1l1	T	C	15: 44,397,129 (GRCm39)		probably benign	Het
Sec14l2	A	G	11: 4,061,114 (GRCm39)	S116P	probably benign	Het
Selenbp2	A	C	3: 94,605,461 (GRCm39)	N96H	possibly damaging	Het
Smarcal1	T	C	1: 72,635,099 (GRCm39)	S393P	probably damaging	Het
Tbc1d1	A	G	5: 64,414,335 (GRCm39)	Q103R	probably damaging	Het
Tmem63c	T	C	12: 87,119,647 (GRCm39)	Y314H	probably damaging	Het
Zfp663	A	C	2: 165,200,993 (GRCm39)	S14A	probably benign	Het

Other mutations in Zmynd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0152:Zmynd10	UTSW	9	107,428,144 (GRCm39)	splice site	probably null
R0749:Zmynd10	UTSW	9	107,425,882 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2014-05-07