Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02937:Dach1'

364392

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dach1

Ensembl Gene

ENSMUSG00000055639

Gene Name

dachshund family transcription factor 1

Synonyms

Dac, E130112M23Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02937

Quality Score

Status

Chromosome

Chromosomal Location

97786853-98169765 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 97915795 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069334] [ENSMUST00000071533]

Predicted Effect

probably null
Transcript: ENSMUST00000069334

SMART Domains

Protein: ENSMUSP00000064970
Gene: ENSMUSG00000055639

Domain	Start	End	E-Value	Type
low complexity region	7	53	N/A	INTRINSIC
low complexity region	61	97	N/A	INTRINSIC
low complexity region	102	156	N/A	INTRINSIC
Pfam:Ski_Sno	159	275	4.8e-53	PFAM
low complexity region	318	334	N/A	INTRINSIC
low complexity region	443	470	N/A	INTRINSIC
SCOP:d1eq1a_	556	674	1e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000071533

SMART Domains

Protein: ENSMUSP00000071464
Gene: ENSMUSG00000055639

Domain	Start	End	E-Value	Type
low complexity region	7	53	N/A	INTRINSIC
low complexity region	61	97	N/A	INTRINSIC
low complexity region	102	156	N/A	INTRINSIC
Pfam:Ski_Sno	164	274	6.5e-42	PFAM
low complexity region	318	334	N/A	INTRINSIC
low complexity region	495	522	N/A	INTRINSIC
SCOP:d1eq1a_	608	726	6e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156684

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 chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: In spite of normal gross morphology, mice homozygous for targeted mutations that inactivate this gene die within 1 day of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,294,753	C21Y	probably damaging	Het
4933427D06Rik	T	C	6: 89,108,145		noncoding transcript	Het
5730480H06Rik	A	G	5: 48,379,441	I160V	probably benign	Het
Arhgap29	G	A	3: 121,974,049	E47K	probably damaging	Het
Arhgef12	T	A	9: 43,015,920	S303C	probably damaging	Het
Bap1	A	G	14: 31,258,327	N644S	probably benign	Het
Cc2d1b	A	G	4: 108,631,894	E796G	probably damaging	Het
Cfh	C	A	1: 140,105,442	R788L	probably benign	Het
Cldn1	A	G	16: 26,360,873	F148S	probably damaging	Het
Cryzl1	A	G	16: 91,690,731	M292T	possibly damaging	Het
Cyp11b1	T	C	15: 74,836,559	R385G	possibly damaging	Het
Cyp4f37	T	C	17: 32,625,189	L89P	probably benign	Het
Ddx58	C	T	4: 40,229,661	C86Y	probably benign	Het
Dhtkd1	A	G	2: 5,917,905	I481T	possibly damaging	Het
Dlx5	A	T	6: 6,881,755	D44E	probably damaging	Het
Dsg1a	T	A	18: 20,331,534	I362N	possibly damaging	Het
Ecm2	T	A	13: 49,518,476	I151N	probably damaging	Het
Far1	T	A	7: 113,540,648	I101N	probably damaging	Het
Gm21985	T	C	2: 112,341,862	S384P	probably benign	Het
Gnb5	T	C	9: 75,340,189	Y247H	probably damaging	Het
Golgb1	A	G	16: 36,916,210	K1940E	probably damaging	Het
Gprc5b	A	G	7: 118,983,794	V284A	probably benign	Het
Idh2	T	C	7: 80,098,913	Y179C	probably damaging	Het
Kalrn	G	A	16: 34,220,130	Q737*	probably null	Het
Kcnj13	T	C	1: 87,386,453	D349G	probably damaging	Het
Lgsn	A	T	1: 31,204,237	T467S	possibly damaging	Het
Map9	T	A	3: 82,363,512	S128T	possibly damaging	Het
Mroh5	A	G	15: 73,789,978	C455R	probably damaging	Het
Nes	A	G	3: 87,979,879	H1771R	probably benign	Het
Nkain2	T	C	10: 32,329,844	Y65C	probably damaging	Het
Olfr303	T	C	7: 86,394,590	K303E	possibly damaging	Het
Olfr623	A	T	7: 103,660,905	V115D	probably damaging	Het
Olfr644	T	A	7: 104,068,849	M61L	probably damaging	Het
Pabpc4l	A	C	3: 46,446,290	D306E	probably benign	Het
Parp12	A	T	6: 39,102,581	Y332N	probably damaging	Het
Parvb	A	T	15: 84,308,953	K316M	probably damaging	Het
Pde8a	T	A	7: 81,295,771		probably benign	Het
Polq	A	G	16: 37,013,109	T55A	probably benign	Het
Ppp2r5b	T	A	19: 6,230,986	K271M	probably damaging	Het
Ralgapb	A	G	2: 158,493,016		probably null	Het
Skap2	T	C	6: 51,909,371	N175D	probably benign	Het
Slc44a3	A	G	3: 121,510,321		probably benign	Het
Smurf2	G	A	11: 106,846,047	H318Y	probably damaging	Het
Tbc1d23	T	C	16: 57,184,415	T460A	possibly damaging	Het
Tcerg1	T	C	18: 42,524,349	S299P	unknown	Het
Tll1	A	C	8: 64,205,285	Y33*	probably null	Het
Tmem59	A	T	4: 107,197,585	T196S	probably damaging	Het
Ttll4	C	A	1: 74,679,503	A171D	possibly damaging	Het
Ttn	T	C	2: 76,811,169	T13528A	possibly damaging	Het
Ttn	A	G	2: 76,887,277		probably benign	Het
Xpc	C	A	6: 91,500,137	G327W	probably damaging	Het
Zbtb7a	A	G	10: 81,144,298	S109G	probably benign	Het
Zfyve26	T	C	12: 79,239,020	M2328V	probably benign	Het

Other mutations in Dach1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Dach1	APN	14	97901422	missense	possibly damaging	0.83
IGL01101:Dach1	APN	14	97840204	missense	possibly damaging	0.83
IGL02033:Dach1	APN	14	97901429	missense	possibly damaging	0.82
IGL02116:Dach1	APN	14	97901423	missense	probably damaging	0.98
IGL02583:Dach1	APN	14	97828394	splice site	probably benign
IGL03120:Dach1	APN	14	97827789	missense	probably damaging	1.00
R0016:Dach1	UTSW	14	98168748	missense	probably damaging	1.00
R0017:Dach1	UTSW	14	98168748	missense	probably damaging	1.00
R0117:Dach1	UTSW	14	98168748	missense	probably damaging	1.00
R0334:Dach1	UTSW	14	98168748	missense	probably damaging	1.00
R0336:Dach1	UTSW	14	98168748	missense	probably damaging	1.00
R0371:Dach1	UTSW	14	97969903	missense	probably damaging	0.99
R0511:Dach1	UTSW	14	97901329	missense	possibly damaging	0.94
R0538:Dach1	UTSW	14	97903279	missense	possibly damaging	0.80
R0799:Dach1	UTSW	14	98168615	missense	possibly damaging	0.79
R0928:Dach1	UTSW	14	97915832	missense	probably damaging	0.98
R0939:Dach1	UTSW	14	97915924	missense	probably damaging	0.99
R1512:Dach1	UTSW	14	97901399	missense	probably damaging	0.99
R1646:Dach1	UTSW	14	98169114	missense	unknown
R1865:Dach1	UTSW	14	97840209	missense	possibly damaging	0.68
R1881:Dach1	UTSW	14	97901396	missense	probably benign	0.20
R1909:Dach1	UTSW	14	97901393	missense	probably damaging	1.00
R1980:Dach1	UTSW	14	97831341	missense	probably damaging	1.00
R2215:Dach1	UTSW	14	98168481	critical splice donor site	probably null
R2570:Dach1	UTSW	14	97901411	missense	probably benign	0.17
R3924:Dach1	UTSW	14	97915903	missense	probably damaging	1.00
R3957:Dach1	UTSW	14	97840109	missense	probably damaging	0.99
R4095:Dach1	UTSW	14	97901379	missense	possibly damaging	0.92
R4373:Dach1	UTSW	14	97827750	missense	possibly damaging	0.94
R5350:Dach1	UTSW	14	97969959	missense	probably damaging	1.00
R5428:Dach1	UTSW	14	98169269	missense	unknown
R5818:Dach1	UTSW	14	98168684	missense	probably damaging	1.00
R6824:Dach1	UTSW	14	98018892	missense	possibly damaging	0.81
R6967:Dach1	UTSW	14	97903197	missense	probably damaging	1.00
R7263:Dach1	UTSW	14	98168859	missense	probably benign
R7701:Dach1	UTSW	14	97903234	missense	probably damaging	0.99
R8176:Dach1	UTSW	14	97916480	missense	probably benign	0.02
R8196:Dach1	UTSW	14	98018934	missense	probably damaging	0.98
R8419:Dach1	UTSW	14	98168640	missense	probably damaging	1.00
R8434:Dach1	UTSW	14	98168693	missense	probably damaging	1.00
R8510:Dach1	UTSW	14	97903159	missense	probably damaging	1.00

Posted On

2015-12-18