Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Dach1'

173906

Institutional Source

Beutler Lab

Gene Symbol

Dach1

Ensembl Gene

ENSMUSG00000055639

Gene Name

dachshund family transcription factor 1

Synonyms

Dac, E130112M23Rik

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1646 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

97786853-98169765 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98169114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 66 (S66P)

Ref Sequence

ENSEMBL: ENSMUSP00000071464 (fasta)

Gene Model

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

AlphaFold

Q9QYB2

Predicted Effect

unknown
Transcript: ENSMUST00000069334
AA Change: S66P

SMART Domains

Protein: ENSMUSP00000064970
Gene: ENSMUSG00000055639
AA Change: S66P

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

unknown
Transcript: ENSMUST00000071533
AA Change: S66P

SMART Domains

Protein: ENSMUSP00000071464
Gene: ENSMUSG00000055639
AA Change: S66P

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,462,990	S751T	probably damaging	Het
Akna	T	G	4: 63,383,892	I581L	probably benign	Het
Cacnb4	A	G	2: 52,474,900	I117T	possibly damaging	Het
Capn1	A	T	19: 5,997,730	F434L	probably benign	Het
Cbs	T	C	17: 31,613,195	T547A	probably benign	Het
Col6a5	A	T	9: 105,862,749	L2557*	probably null	Het
D17Wsu92e	A	G	17: 27,793,960	S88P	probably damaging	Het
D1Ertd622e	A	T	1: 97,645,806	I178N	probably damaging	Het
Ddx31	T	C	2: 28,892,520	V625A	probably benign	Het
Dmxl1	T	G	18: 49,962,261	V2969G	probably damaging	Het
Eapp	T	A	12: 54,685,960	K122*	probably null	Het
Epb41l5	G	T	1: 119,550,022		probably benign	Het
Fat1	T	C	8: 45,018,042	S1628P	probably damaging	Het
Fgfr2	T	A	7: 130,242,644	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,165,964	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,978,517	T1727S	probably benign	Het
Gak	A	T	5: 108,602,854	S397T	probably damaging	Het
Gm6040	T	A	8: 20,917,097	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,611,861	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,784,106	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,701,027	V91G	probably damaging	Het
Hells	A	T	19: 38,967,783	I808L	probably benign	Het
Icmt	T	A	4: 152,299,715	V110E	possibly damaging	Het
Iqca	C	T	1: 90,140,038	V164M	probably damaging	Het
Klri1	G	A	6: 129,703,336	P119S	probably benign	Het
Krt71	C	A	15: 101,738,764		probably null	Het
Lpin1	A	G	12: 16,573,658		probably null	Het
Metap2	T	C	10: 93,870,197	H241R	probably damaging	Het
Myh15	A	G	16: 49,195,568	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,317,632	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,465,706		probably benign	Het
Npat	T	C	9: 53,555,134	V241A	probably benign	Het
Npbwr1	C	A	1: 5,917,254	V14L	probably benign	Het
Nup37	T	A	10: 88,178,234	V323E	possibly damaging	Het
Olfr1036	A	G	2: 86,075,616	N292S	probably damaging	Het
Olfr1351	C	A	10: 79,017,506	Y61*	probably null	Het
Olfr483	C	T	7: 108,103,591	T94I	probably benign	Het
Olfr743	A	T	14: 50,533,583	Q57L	probably benign	Het
Pdlim4	A	T	11: 54,056,254	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,898,395	D201G	probably benign	Het
Ptk7	A	T	17: 46,586,297	F370I	probably benign	Het
Pus7l	T	C	15: 94,533,636	N371D	probably benign	Het
Pzp	G	A	6: 128,503,555	A589V	probably benign	Het
Rasef	T	A	4: 73,734,549	R572W	probably damaging	Het
Reep5	T	C	18: 34,349,659	T166A	probably benign	Het
Rhov	A	G	2: 119,271,020	V35A	probably damaging	Het
Ripk4	C	T	16: 97,743,897	G517R	probably damaging	Het
Rnasel	A	G	1: 153,755,054	T439A	probably damaging	Het
Slamf9	A	G	1: 172,477,340	T174A	probably benign	Het
Slc12a9	A	G	5: 137,323,149	L414P	probably damaging	Het
Slf1	G	A	13: 77,066,648	R640*	probably null	Het
Slfn8	G	T	11: 83,016,886	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,419,702		probably benign	Het
Tm9sf3	A	C	19: 41,223,179	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,347	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,814,733	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,415,821	C982R	probably damaging	Het
Usp36	C	T	11: 118,273,566	V207M	probably damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vasp	G	A	7: 19,260,978		probably benign	Het
Vmn2r115	T	C	17: 23,359,539	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,507	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,621,268	N547K	probably damaging	Het
Wasf2	A	G	4: 133,176,591	I37V	probably benign	Het
Wwc2	T	C	8: 47,842,902	E1111G	unknown	Het
Zfp317	A	G	9: 19,647,312	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,781,275	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,864,036		probably null	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
IGL02937:Dach1	APN	14	97915795	critical splice donor site	probably null
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
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
R8748:Dach1	UTSW	14	97828334	nonsense	probably null
R8909:Dach1	UTSW	14	98168684	missense	probably damaging	1.00
R9087:Dach1	UTSW	14	98168831	missense	probably benign	0.01
R9200:Dach1	UTSW	14	97828307	missense	probably damaging	1.00
Z1192:Dach1	UTSW	14	97903151	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GGTTGAGTACACGGGTTTCCCAG -3'
(R):5'- AGAGGACTCGCATTTCGACTTGC -3'

Sequencing Primer
(F):5'- ctactgctgctgctgcc -3'
(R):5'- TCTCCGGCTCCATCCATCGG -3'

Posted On

2014-04-24