Mutagenetix > Incidental Mutation

Incidental Mutation 'R7247:Zmynd10'

563619

Institutional Source

Beutler Lab

Gene Symbol

Zmynd10

Ensembl Gene

ENSMUSG00000010044

Gene Name

zinc finger, MYND domain containing 10

Synonyms

Blu

MMRRC Submission

045310-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.725) question?

Stock #

R7247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107424497-107428518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107425976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 103 (I103M)

Ref Sequence

ENSEMBL: ENSMUSP00000010188 (fasta)

Gene Model

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

AlphaFold

Q99ML0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010188
AA Change: I103M

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044
AA Change: I103M

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

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

probably benign
Transcript: ENSMUST00000193303

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,732 (GRCm39)	E865G	probably benign	Het
Actrt2	A	C	4: 154,751,880 (GRCm39)	D85E	probably benign	Het
Ankrd55	A	G	13: 112,472,787 (GRCm39)	E153G	probably damaging	Het
Arfgef3	T	A	10: 18,501,139 (GRCm39)	H1037L	probably benign	Het
Camk2a	A	G	18: 61,076,277 (GRCm39)	Y85C	unknown	Het
Caprin1	A	T	2: 103,609,819 (GRCm39)	V153E	possibly damaging	Het
Caskin2	G	A	11: 115,692,722 (GRCm39)	P688S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc116	T	C	16: 16,957,555 (GRCm39)	T535A	possibly damaging	Het
Cdh9	G	A	15: 16,778,341 (GRCm39)	R52H	probably damaging	Het
Cdk5rap2	A	G	4: 70,255,666 (GRCm39)	L406S	probably damaging	Het
Cep350	A	G	1: 155,786,499 (GRCm39)	M1449T	probably damaging	Het
Chst8	T	A	7: 34,375,361 (GRCm39)	K159N	probably damaging	Het
Dcdc2a	A	G	13: 25,286,374 (GRCm39)	H136R	probably benign	Het
Dip2a	C	T	10: 76,108,366 (GRCm39)		probably null	Het
Dock2	G	A	11: 34,605,340 (GRCm39)	R260*	probably null	Het
Dscam	A	G	16: 96,622,008 (GRCm39)	V481A	probably damaging	Het
E130308A19Rik	A	G	4: 59,690,502 (GRCm39)	D112G	probably damaging	Het
Ezh2	T	C	6: 47,510,708 (GRCm39)	K634E	probably damaging	Het
Fcgr2b	A	G	1: 170,793,269 (GRCm39)		probably null	Het
Fgfrl1	T	C	5: 108,851,365 (GRCm39)	V94A	possibly damaging	Het
Gpr156	C	A	16: 37,768,103 (GRCm39)	N6K	probably damaging	Het
Gsdmc2	A	T	15: 63,705,183 (GRCm39)	F177I	probably benign	Het
Igkv4-54	T	A	6: 69,608,842 (GRCm39)	S26C	probably damaging	Het
Iglc3	T	C	16: 18,884,191 (GRCm39)	H80R		Het
Immp1l	G	A	2: 105,767,401 (GRCm39)	G87S	probably damaging	Het
Itgav	A	T	2: 83,555,179 (GRCm39)	D34V	probably damaging	Het
Lrp1b	G	A	2: 41,159,224 (GRCm39)	T1686I		Het
Ltn1	T	C	16: 87,206,275 (GRCm39)	D935G	probably benign	Het
Map3k8	T	C	18: 4,334,036 (GRCm39)	D352G	probably damaging	Het
Map3k9	T	C	12: 81,772,604 (GRCm39)	K610E	possibly damaging	Het
Marchf4	G	T	1: 72,491,637 (GRCm39)	Y211*	probably null	Het
Marf1	A	T	16: 13,944,957 (GRCm39)	L1304Q	probably damaging	Het
Matcap1	A	T	8: 106,011,331 (GRCm39)	Y268N	probably benign	Het
Mecom	A	G	3: 30,194,505 (GRCm39)	V5A	unknown	Het
Mep1a	A	T	17: 43,785,995 (GRCm39)	V711D	possibly damaging	Het
Naca	T	A	10: 127,878,467 (GRCm39)	D1166E	unknown	Het
Neb	G	T	2: 52,148,753 (GRCm39)	P2598Q	probably damaging	Het
Notch4	A	T	17: 34,791,491 (GRCm39)	E546V	probably damaging	Het
Nudt18	A	G	14: 70,815,422 (GRCm39)	T12A	unknown	Het
Nvl	A	C	1: 180,939,851 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,994,144 (GRCm39)	C1579*	probably null	Het
Or4b13	G	A	2: 90,083,165 (GRCm39)	P56S	probably damaging	Het
Or51e2	T	C	7: 102,391,551 (GRCm39)	I220V	probably damaging	Het
Or6c5b	T	C	10: 129,246,051 (GRCm39)	V272A	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8g19	T	A	9: 39,056,153 (GRCm39)	Y252*	probably null	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Paqr9	A	G	9: 95,442,246 (GRCm39)	T79A	possibly damaging	Het
Plec	A	T	15: 76,061,543 (GRCm39)	V2798E	probably damaging	Het
Potefam3f	A	G	8: 20,479,022 (GRCm39)	N10S		Het
Ptpn4	A	T	1: 119,617,764 (GRCm39)	*557R	probably null	Het
Ptprt	T	C	2: 161,375,443 (GRCm39)	E1379G	probably benign	Het
Rad18	G	T	6: 112,642,286 (GRCm39)	T327K	possibly damaging	Het
Rps2	T	A	17: 24,939,554 (GRCm39)	I75N	possibly damaging	Het
Scgb2b2	A	T	7: 31,003,021 (GRCm39)	R39W	probably damaging	Het
Sh3d21	A	G	4: 126,045,908 (GRCm39)	F307S	probably benign	Het
Snap91	A	G	9: 86,674,669 (GRCm39)	V507A	unknown	Het
Srgap1	T	A	10: 121,705,695 (GRCm39)	Y243F	probably damaging	Het
Stim1	T	A	7: 102,070,739 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,416,962 (GRCm38)	V1161A	probably benign	Het
Tpcn1	T	C	5: 120,723,315 (GRCm39)	D16G	possibly damaging	Het
Trank1	A	T	9: 111,196,580 (GRCm39)	I1535F	probably damaging	Het
Txnrd2	T	C	16: 18,274,822 (GRCm39)	F278L	probably damaging	Het
Ufl1	A	T	4: 25,254,637 (GRCm39)	D579E	probably damaging	Het
Vps45	T	C	3: 95,948,717 (GRCm39)	N346S	probably benign	Het
Vps51	T	A	19: 6,127,419 (GRCm39)		probably benign	Het
Zfp536	T	C	7: 37,268,631 (GRCm39)	N262D	probably benign	Het
Zswim1	C	T	2: 164,667,719 (GRCm39)	H324Y	possibly damaging	Het
Zxdc	T	C	6: 90,361,155 (GRCm39)	W507R	unknown	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
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
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'- GGCCATTCAGAGGAAACCCAAG -3'
(R):5'- TGCAGAGTAGTGTCTCACCTTG -3'

Sequencing Primer
(F):5'- CTTAAGACAGGCTAAAGCTGGGAC -3'
(R):5'- GTCTCACCTTGTGGAAGAACACTG -3'

Posted On

2019-06-26