Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03029:Dach2'

408328

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 #

IGL03029

Quality Score

Status

Chromosome

Chromosomal Location

112207207-112746083 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 112724833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 492 (L492*)

Ref Sequence

ENSEMBL: ENSMUSP00000109009 (fasta)

Gene Model

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

AlphaFold

Q925Q8

Predicted Effect

probably null
Transcript: ENSMUST00000067219
AA Change: L505*

SMART Domains

Protein: ENSMUSP00000064393
Gene: ENSMUSG00000025592
AA Change: L505*

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 null
Transcript: ENSMUST00000113378
AA Change: L319*

SMART Domains

Protein: ENSMUSP00000109005
Gene: ENSMUSG00000025592
AA Change: L319*

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 null
Transcript: ENSMUST00000113379
AA Change: L331*

SMART Domains

Protein: ENSMUSP00000109006
Gene: ENSMUSG00000025592
AA Change: L331*

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 null
Transcript: ENSMUST00000113380
AA Change: L371*

SMART Domains

Protein: ENSMUSP00000109007
Gene: ENSMUSG00000025592
AA Change: L371*

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 null
Transcript: ENSMUST00000113382
AA Change: L492*

SMART Domains

Protein: ENSMUSP00000109009
Gene: ENSMUSG00000025592
AA Change: L492*

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: ENSMUST00000123974

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	T	A	9: 106,312,314 (GRCm39)	D213V	probably damaging	Het
Akap6	T	C	12: 52,933,195 (GRCm39)	L229P	probably damaging	Het
Ankrd10	A	T	8: 11,669,304 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,206,851 (GRCm39)	E246K	probably damaging	Het
Cadps	G	T	14: 12,376,675 (GRCm38)	T1274K	probably damaging	Het
Cd46	T	C	1: 194,768,451 (GRCm39)	T89A	probably benign	Het
Cylc1	A	C	X: 110,156,944 (GRCm39)		probably benign	Het
Dlc1	T	C	8: 37,038,416 (GRCm39)		probably null	Het
Fanci	T	C	7: 79,093,747 (GRCm39)	V1033A	probably benign	Het
Fat4	T	C	3: 39,036,740 (GRCm39)	I3464T	possibly damaging	Het
Fus	A	G	7: 127,584,712 (GRCm39)		probably benign	Het
Garin5b	G	T	7: 4,760,839 (GRCm39)	N624K	possibly damaging	Het
Hectd3	G	T	4: 116,854,162 (GRCm39)	E271*	probably null	Het
Herc2	T	C	7: 55,818,715 (GRCm39)	L2802P	probably damaging	Het
Hk2	G	A	6: 82,715,314 (GRCm39)	R407C	probably damaging	Het
Josd2	T	C	7: 44,120,601 (GRCm39)	S71P	probably damaging	Het
Kif20b	A	G	19: 34,928,313 (GRCm39)	T1152A	probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nup188	T	C	2: 30,212,592 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,447,792 (GRCm39)	I228F	probably benign	Het
Pank1	T	A	19: 34,798,535 (GRCm39)	I476F	probably damaging	Het
Pdcd6	A	G	13: 74,457,899 (GRCm39)	Y91H	probably damaging	Het
Pik3r3	T	G	4: 116,156,998 (GRCm39)	V393G	probably damaging	Het
Poglut3	T	C	9: 53,295,588 (GRCm39)		probably null	Het
Prx	C	T	7: 27,207,486 (GRCm39)	R48*	probably null	Het
Rbm5	A	G	9: 107,631,652 (GRCm39)	S222P	possibly damaging	Het
Rev3l	T	A	10: 39,704,482 (GRCm39)	I302N	probably benign	Het
Rnf139	T	C	15: 58,770,967 (GRCm39)	F331L	probably damaging	Het
Shisa4	G	T	1: 135,300,914 (GRCm39)	Q119K	probably damaging	Het
Shisa6	T	A	11: 66,108,839 (GRCm39)	E346V	probably damaging	Het
Slc6a3	A	T	13: 73,686,816 (GRCm39)	E61V	probably damaging	Het
Slc9a7	T	A	X: 20,157,608 (GRCm39)	M106L	probably benign	Het
Srek1	A	G	13: 103,900,468 (GRCm39)		probably benign	Het
Strc	G	A	2: 121,194,525 (GRCm39)	L1788F	possibly damaging	Het
Styk1	T	C	6: 131,277,523 (GRCm39)	S284G	probably benign	Het
Top2a	T	A	11: 98,909,625 (GRCm39)	T158S	probably benign	Het
Vangl1	C	T	3: 102,091,400 (GRCm39)	V229M	probably damaging	Het
Vsig1	A	G	X: 139,827,261 (GRCm39)	T137A	possibly 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
IGL03369:Dach2	APN	X	112,465,937 (GRCm39)	splice site	probably benign
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