Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03369:Dach2'

420244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dach2

Ensembl Gene

ENSMUSG00000025592

Gene Name

dachshund family transcription factor 2

Synonyms

9430028N04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

112207207-112746083 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 112465937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067219] [ENSMUST00000113378] [ENSMUST00000113379] [ENSMUST00000113380] [ENSMUST00000113382]

AlphaFold

Q925Q8

Predicted Effect

probably benign
Transcript: ENSMUST00000067219

SMART Domains

Protein: ENSMUSP00000064393
Gene: ENSMUSG00000025592

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	64	168	5.2e-40	PFAM
low complexity region	224	241	N/A	INTRINSIC
low complexity region	292	304	N/A	INTRINSIC
low complexity region	319	341	N/A	INTRINSIC
low complexity region	379	391	N/A	INTRINSIC
low complexity region	396	417	N/A	INTRINSIC
coiled coil region	500	587	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113378

SMART Domains

Protein: ENSMUSP00000109005
Gene: ENSMUSG00000025592

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	93	115	N/A	INTRINSIC
low complexity region	153	165	N/A	INTRINSIC
low complexity region	170	191	N/A	INTRINSIC
coiled coil region	314	401	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113379

SMART Domains

Protein: ENSMUSP00000109006
Gene: ENSMUSG00000025592

Domain	Start	End	E-Value	Type
low complexity region	50	67	N/A	INTRINSIC
low complexity region	118	130	N/A	INTRINSIC
low complexity region	145	167	N/A	INTRINSIC
low complexity region	205	217	N/A	INTRINSIC
low complexity region	222	243	N/A	INTRINSIC
coiled coil region	326	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113380

SMART Domains

Protein: ENSMUSP00000109007
Gene: ENSMUSG00000025592

Domain	Start	End	E-Value	Type
low complexity region	50	67	N/A	INTRINSIC
low complexity region	118	130	N/A	INTRINSIC
low complexity region	145	167	N/A	INTRINSIC
low complexity region	205	217	N/A	INTRINSIC
low complexity region	222	243	N/A	INTRINSIC
coiled coil region	366	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113382

SMART Domains

Protein: ENSMUSP00000109009
Gene: ENSMUSG00000025592

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	32	169	2.9e-53	PFAM
low complexity region	211	228	N/A	INTRINSIC
low complexity region	279	291	N/A	INTRINSIC
low complexity region	306	328	N/A	INTRINSIC
low complexity region	366	378	N/A	INTRINSIC
low complexity region	383	404	N/A	INTRINSIC
SCOP:d1eq1a_	472	571	8e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146539

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 is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
PHENOTYPE: Targeted disruption of this gene results in homozygous females and hemizygous males that are viable, fertile and do not display gross defects in eye development or brain function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,333,380 (GRCm39)	N72S	possibly damaging	Het
A2m	G	A	6: 121,653,862 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,923,057 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,301,746 (GRCm39)	D1106G	probably benign	Het
Capn13	G	A	17: 73,648,149 (GRCm39)		probably benign	Het
Cep250	A	G	2: 155,832,191 (GRCm39)	H1371R	probably benign	Het
Chrna1	A	T	2: 73,400,789 (GRCm39)	F247Y	probably benign	Het
Col2a1	T	C	15: 97,879,923 (GRCm39)	T813A	unknown	Het
Dab2	T	C	15: 6,464,790 (GRCm39)	V414A	possibly damaging	Het
Fap	A	G	2: 62,333,699 (GRCm39)		probably benign	Het
Fgd5	T	A	6: 91,965,396 (GRCm39)	V385D	probably damaging	Het
Fmnl1	A	G	11: 103,088,008 (GRCm39)		probably null	Het
Gorasp2	G	A	2: 70,513,336 (GRCm39)	G201D	probably damaging	Het
Gp2	T	A	7: 119,050,783 (GRCm39)	Q316L	probably damaging	Het
Gpx8	T	C	13: 113,179,696 (GRCm39)	I202V	probably damaging	Het
Gsta3	A	G	1: 21,335,173 (GRCm39)	K218R	probably benign	Het
Lama3	C	T	18: 12,686,340 (GRCm39)	T1195I	probably benign	Het
Map3k12	T	C	15: 102,410,514 (GRCm39)	R488G	possibly damaging	Het
Mapt	A	T	11: 104,173,259 (GRCm39)	Y18F	probably damaging	Het
Med21	T	C	6: 146,544,143 (GRCm39)	V12A	probably benign	Het
Mgat4b	A	G	11: 50,124,936 (GRCm39)	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,742,780 (GRCm39)	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,247,858 (GRCm39)	V75G	probably benign	Het
Neb	A	G	2: 52,068,049 (GRCm39)	Y5795H	probably benign	Het
Nup153	A	G	13: 46,854,459 (GRCm39)		probably null	Het
Or6c215	T	C	10: 129,638,340 (GRCm39)	D18G	probably damaging	Het
Or6y1	T	A	1: 174,276,435 (GRCm39)	I82N	probably damaging	Het
Plekhf2	G	T	4: 10,990,703 (GRCm39)	T213K	probably benign	Het
Plekho2	C	A	9: 65,466,776 (GRCm39)	G105W	probably damaging	Het
Polr3b	G	A	10: 84,512,816 (GRCm39)	G566D	probably damaging	Het
Rasgrf1	T	C	9: 89,892,504 (GRCm39)	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,312,294 (GRCm39)	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107 (GRCm39)	S469F	probably damaging	Het
Spata31e4	G	T	13: 50,857,200 (GRCm39)	C946F	possibly damaging	Het
Top1	A	T	2: 160,535,647 (GRCm39)	D182V	unknown	Het
Uckl1	T	C	2: 181,211,982 (GRCm39)	T375A	probably benign	Het
Usp53	A	T	3: 122,727,370 (GRCm39)		probably benign	Het
Vmn2r61	T	A	7: 41,909,517 (GRCm39)	I14N	probably benign	Het
Wbp4	A	T	14: 79,707,558 (GRCm39)	N184K	probably damaging	Het

Other mutations in Dach2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02612:Dach2	APN	X	112,660,101 (GRCm39)	missense	probably benign	0.09
IGL03029:Dach2	APN	X	112,724,833 (GRCm39)	nonsense	probably null
R1381:Dach2	UTSW	X	112,208,472 (GRCm39)	missense	probably damaging	1.00
R1556:Dach2	UTSW	X	112,208,214 (GRCm39)	missense	probably benign	0.13
R1886:Dach2	UTSW	X	112,208,305 (GRCm39)	missense	probably benign	0.30
R3123:Dach2	UTSW	X	112,729,664 (GRCm39)	missense	possibly damaging	0.79
R3124:Dach2	UTSW	X	112,729,664 (GRCm39)	missense	possibly damaging	0.79
R3125:Dach2	UTSW	X	112,729,664 (GRCm39)	missense	possibly damaging	0.79

Posted On

2016-08-02