Mutagenetix > Incidental Mutation

Incidental Mutation 'R3123:Dach2'

264180

Institutional Source

Beutler Lab

Gene Symbol

Dach2

Ensembl Gene

ENSMUSG00000025592

Gene Name

dachshund family transcription factor 2

Synonyms

9430028N04Rik

MMRRC Submission

040596-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3123 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

112207207-112746083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112729664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 417 (I417T)

Ref Sequence

ENSEMBL: ENSMUSP00000109005 (fasta)

Gene Model

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

AlphaFold

Q925Q8

Predicted Effect

probably benign
Transcript: ENSMUST00000067219
AA Change: I603T

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000064393
Gene: ENSMUSG00000025592
AA Change: I603T

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

possibly damaging
Transcript: ENSMUST00000113378
AA Change: I417T

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109005
Gene: ENSMUSG00000025592
AA Change: I417T

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
AA Change: I429T

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109006
Gene: ENSMUSG00000025592
AA Change: I429T

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

possibly damaging
Transcript: ENSMUST00000113380
AA Change: I469T

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109007
Gene: ENSMUSG00000025592
AA Change: I469T

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

possibly damaging
Transcript: ENSMUST00000113382
AA Change: I590T

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109009
Gene: ENSMUSG00000025592
AA Change: I590T

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

Meta Mutation Damage Score

0.0908

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (46/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,234,576 (GRCm39)	I646V	possibly damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Caskin2	T	C	11: 115,695,623 (GRCm39)	D246G	probably damaging	Het
Csn1s2b	T	C	5: 87,966,917 (GRCm39)		probably benign	Het
Ctsa	T	A	2: 164,677,152 (GRCm39)		probably null	Het
Cyp2j8	G	A	4: 96,389,450 (GRCm39)		probably benign	Het
Dcaf8l	A	T	X: 88,448,327 (GRCm39)	Y601N	probably benign	Het
Dhx9	T	C	1: 153,341,452 (GRCm39)	K599E	possibly damaging	Het
Duox2	A	G	2: 122,111,554 (GRCm39)		probably benign	Het
F2rl3	T	C	8: 73,489,840 (GRCm39)	S356P	probably damaging	Het
Fem1b	T	C	9: 62,703,836 (GRCm39)	I475V	probably benign	Het
Glra3	A	G	8: 56,578,244 (GRCm39)	R434G	possibly damaging	Het
Gpr75	T	A	11: 30,841,709 (GRCm39)	S205T	possibly damaging	Het
Hsd17b12	C	T	2: 93,864,303 (GRCm39)	R268Q	probably benign	Het
Htt	T	C	5: 34,961,875 (GRCm39)	S287P	probably benign	Het
Ifi27l2b	T	C	12: 103,417,594 (GRCm39)	T198A	unknown	Het
Kdm5d	T	C	Y: 900,558 (GRCm39)	V201A	possibly damaging	Het
Khdrbs2	C	A	1: 32,558,858 (GRCm39)	R408L	probably damaging	Het
Lonp1	A	G	17: 56,933,488 (GRCm39)	I129T	possibly damaging	Het
Macc1	T	C	12: 119,411,368 (GRCm39)	F712S	probably damaging	Het
Mcpt8	A	T	14: 56,321,398 (GRCm39)	I22K	probably damaging	Het
Nop2	G	A	6: 125,109,164 (GRCm39)		probably benign	Het
Or10ag53	A	T	2: 87,083,135 (GRCm39)	T285S	possibly damaging	Het
Or2l13	A	G	16: 19,305,765 (GRCm39)	Y59C	probably damaging	Het
Or2y3	G	A	17: 38,392,903 (GRCm39)		probably null	Het
Pkd1l1	T	A	11: 8,923,021 (GRCm39)	D82V	unknown	Het
Polr2a	A	T	11: 69,626,536 (GRCm39)	S1566T	possibly damaging	Het
Ppwd1	C	T	13: 104,350,198 (GRCm39)	E396K	possibly damaging	Het
Prr30	A	G	14: 101,436,425 (GRCm39)	S46P	probably benign	Het
Pthlh	A	T	6: 147,164,789 (GRCm39)	V27E	probably damaging	Het
Ptpn4	A	G	1: 119,693,153 (GRCm39)		probably null	Het
Rad18	A	T	6: 112,658,307 (GRCm39)	D199E	probably benign	Het
Ralgps1	T	C	2: 33,048,968 (GRCm39)	T314A	possibly damaging	Het
Rbm27	A	G	18: 42,460,230 (GRCm39)	E764G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Taf15	G	A	11: 83,395,154 (GRCm39)		probably null	Het
Tas2r140	T	A	6: 133,032,204 (GRCm39)	I185L	probably benign	Het
Tgfbr2	G	A	9: 115,939,137 (GRCm39)	T230M	possibly damaging	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Togaram1	G	T	12: 65,013,118 (GRCm39)	R123L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim9	C	T	12: 70,295,167 (GRCm39)	G648R	probably damaging	Het
Upf1	A	G	8: 70,790,133 (GRCm39)		probably benign	Het
Vmn2r109	C	T	17: 20,761,248 (GRCm39)	C703Y	probably damaging	Het
Zfp574	G	T	7: 24,781,026 (GRCm39)	A683S	possibly damaging	Het
Zfp777	A	G	6: 48,006,050 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGTCCTAGAGGAGATCTTG -3'
(R):5'- TGCTTCATAGGTCAGAGTATGAAAAGC -3'

Sequencing Primer
(F):5'- TAGAGGAGATCTTGGAAGTACAAATG -3'
(R):5'- GGGATCACACATTATGCAC -3'

Posted On

2015-02-05