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

98024289-98407201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98406550 bp (GRCm39)

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
Akna	T	G	4: 63,302,129 (GRCm39)	I581L	probably benign	Het
Cacnb4	A	G	2: 52,364,912 (GRCm39)	I117T	possibly damaging	Het
Capn1	A	T	19: 6,047,760 (GRCm39)	F434L	probably benign	Het
Cbs	T	C	17: 31,832,169 (GRCm39)	T547A	probably benign	Het
Col6a5	A	T	9: 105,739,948 (GRCm39)	L2557*	probably null	Het
Ddx31	T	C	2: 28,782,532 (GRCm39)	V625A	probably benign	Het
Dmxl1	T	G	18: 50,095,328 (GRCm39)	V2969G	probably damaging	Het
Eapp	T	A	12: 54,732,745 (GRCm39)	K122*	probably null	Het
Elapor1	A	T	3: 108,370,306 (GRCm39)	S751T	probably damaging	Het
Epb41l5	G	T	1: 119,477,752 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,471,079 (GRCm39)	S1628P	probably damaging	Het
Fgfr2	T	A	7: 129,844,374 (GRCm39)	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,313,777 (GRCm39)	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,808,861 (GRCm39)	T1727S	probably benign	Het
Gak	A	T	5: 108,750,720 (GRCm39)	S397T	probably damaging	Het
Gm6040	T	A	8: 21,407,113 (GRCm39)	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,661,860 (GRCm39)	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,619,940 (GRCm39)	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,536,861 (GRCm39)	V91G	probably damaging	Het
Hells	A	T	19: 38,956,227 (GRCm39)	I808L	probably benign	Het
Icmt	T	A	4: 152,384,172 (GRCm39)	V110E	possibly damaging	Het
Ilrun	A	G	17: 28,012,934 (GRCm39)	S88P	probably damaging	Het
Iqca1	C	T	1: 90,067,760 (GRCm39)	V164M	probably damaging	Het
Klri1	G	A	6: 129,680,299 (GRCm39)	P119S	probably benign	Het
Krt71	C	A	15: 101,647,199 (GRCm39)		probably null	Het
Lpin1	A	G	12: 16,623,659 (GRCm39)		probably null	Het
Macir	A	T	1: 97,573,531 (GRCm39)	I178N	probably damaging	Het
Metap2	T	C	10: 93,706,059 (GRCm39)	H241R	probably damaging	Het
Myh15	A	G	16: 49,015,931 (GRCm39)	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,455,693 (GRCm39)	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,262,594 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,466,434 (GRCm39)	V241A	probably benign	Het
Npbwr1	C	A	1: 5,987,473 (GRCm39)	V14L	probably benign	Het
Nup37	T	A	10: 88,014,096 (GRCm39)	V323E	possibly damaging	Het
Or11g27	A	T	14: 50,771,040 (GRCm39)	Q57L	probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or5p59	C	T	7: 107,702,798 (GRCm39)	T94I	probably benign	Het
Or7a35	C	A	10: 78,853,340 (GRCm39)	Y61*	probably null	Het
Pdlim4	A	T	11: 53,947,080 (GRCm39)	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,875,379 (GRCm39)	D201G	probably benign	Het
Ptk7	A	T	17: 46,897,223 (GRCm39)	F370I	probably benign	Het
Pus7l	T	C	15: 94,431,517 (GRCm39)	N371D	probably benign	Het
Pzp	G	A	6: 128,480,518 (GRCm39)	A589V	probably benign	Het
Rasef	T	A	4: 73,652,786 (GRCm39)	R572W	probably damaging	Het
Reep5	T	C	18: 34,482,712 (GRCm39)	T166A	probably benign	Het
Rhov	A	G	2: 119,101,501 (GRCm39)	V35A	probably damaging	Het
Ripk4	C	T	16: 97,545,097 (GRCm39)	G517R	probably damaging	Het
Rnasel	A	G	1: 153,630,800 (GRCm39)	T439A	probably damaging	Het
Slamf9	A	G	1: 172,304,907 (GRCm39)	T174A	probably benign	Het
Slc12a9	A	G	5: 137,321,411 (GRCm39)	L414P	probably damaging	Het
Slf1	G	A	13: 77,214,767 (GRCm39)	R640*	probably null	Het
Slfn8	G	T	11: 82,907,712 (GRCm39)	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,125,463 (GRCm39)		probably benign	Het
Tm9sf3	A	C	19: 41,211,618 (GRCm39)	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,433 (GRCm39)	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,645,077 (GRCm39)	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,148,018 (GRCm39)	C982R	probably damaging	Het
Usp36	C	T	11: 118,164,392 (GRCm39)	V207M	probably damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vasp	G	A	7: 18,994,903 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,578,513 (GRCm39)	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,434 (GRCm39)	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Wasf2	A	G	4: 132,903,902 (GRCm39)	I37V	probably benign	Het
Wwc2	T	C	8: 48,295,937 (GRCm39)	E1111G	unknown	Het
Zfp317	A	G	9: 19,558,608 (GRCm39)	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,623,195 (GRCm39)	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,754,862 (GRCm39)		probably null	Het

Other mutations in Dach1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Dach1	APN	14	98,138,858 (GRCm39)	missense	possibly damaging	0.83
IGL01101:Dach1	APN	14	98,077,640 (GRCm39)	missense	possibly damaging	0.83
IGL02033:Dach1	APN	14	98,138,865 (GRCm39)	missense	possibly damaging	0.82
IGL02116:Dach1	APN	14	98,138,859 (GRCm39)	missense	probably damaging	0.98
IGL02583:Dach1	APN	14	98,065,830 (GRCm39)	splice site	probably benign
IGL02937:Dach1	APN	14	98,153,231 (GRCm39)	critical splice donor site	probably null
IGL03120:Dach1	APN	14	98,065,225 (GRCm39)	missense	probably damaging	1.00
R0016:Dach1	UTSW	14	98,406,184 (GRCm39)	missense	probably damaging	1.00
R0017:Dach1	UTSW	14	98,406,184 (GRCm39)	missense	probably damaging	1.00
R0117:Dach1	UTSW	14	98,406,184 (GRCm39)	missense	probably damaging	1.00
R0334:Dach1	UTSW	14	98,406,184 (GRCm39)	missense	probably damaging	1.00
R0336:Dach1	UTSW	14	98,406,184 (GRCm39)	missense	probably damaging	1.00
R0371:Dach1	UTSW	14	98,207,339 (GRCm39)	missense	probably damaging	0.99
R0511:Dach1	UTSW	14	98,138,765 (GRCm39)	missense	possibly damaging	0.94
R0538:Dach1	UTSW	14	98,140,715 (GRCm39)	missense	possibly damaging	0.80
R0799:Dach1	UTSW	14	98,406,051 (GRCm39)	missense	possibly damaging	0.79
R0928:Dach1	UTSW	14	98,153,268 (GRCm39)	missense	probably damaging	0.98
R0939:Dach1	UTSW	14	98,153,360 (GRCm39)	missense	probably damaging	0.99
R1512:Dach1	UTSW	14	98,138,835 (GRCm39)	missense	probably damaging	0.99
R1865:Dach1	UTSW	14	98,077,645 (GRCm39)	missense	possibly damaging	0.68
R1881:Dach1	UTSW	14	98,138,832 (GRCm39)	missense	probably benign	0.20
R1909:Dach1	UTSW	14	98,138,829 (GRCm39)	missense	probably damaging	1.00
R1980:Dach1	UTSW	14	98,068,777 (GRCm39)	missense	probably damaging	1.00
R2215:Dach1	UTSW	14	98,405,917 (GRCm39)	critical splice donor site	probably null
R2570:Dach1	UTSW	14	98,138,847 (GRCm39)	missense	probably benign	0.17
R3924:Dach1	UTSW	14	98,153,339 (GRCm39)	missense	probably damaging	1.00
R3957:Dach1	UTSW	14	98,077,545 (GRCm39)	missense	probably damaging	0.99
R4095:Dach1	UTSW	14	98,138,815 (GRCm39)	missense	possibly damaging	0.92
R4373:Dach1	UTSW	14	98,065,186 (GRCm39)	missense	possibly damaging	0.94
R5350:Dach1	UTSW	14	98,207,395 (GRCm39)	missense	probably damaging	1.00
R5428:Dach1	UTSW	14	98,406,705 (GRCm39)	missense	unknown
R5818:Dach1	UTSW	14	98,406,120 (GRCm39)	missense	probably damaging	1.00
R6824:Dach1	UTSW	14	98,256,328 (GRCm39)	missense	possibly damaging	0.81
R6967:Dach1	UTSW	14	98,140,633 (GRCm39)	missense	probably damaging	1.00
R7263:Dach1	UTSW	14	98,406,295 (GRCm39)	missense	probably benign
R7701:Dach1	UTSW	14	98,140,670 (GRCm39)	missense	probably damaging	0.99
R8176:Dach1	UTSW	14	98,153,916 (GRCm39)	missense	probably benign	0.02
R8196:Dach1	UTSW	14	98,256,370 (GRCm39)	missense	probably damaging	0.98
R8419:Dach1	UTSW	14	98,406,076 (GRCm39)	missense	probably damaging	1.00
R8434:Dach1	UTSW	14	98,406,129 (GRCm39)	missense	probably damaging	1.00
R8510:Dach1	UTSW	14	98,140,595 (GRCm39)	missense	probably damaging	1.00
R8748:Dach1	UTSW	14	98,065,770 (GRCm39)	nonsense	probably null
R8909:Dach1	UTSW	14	98,406,120 (GRCm39)	missense	probably damaging	1.00
R9087:Dach1	UTSW	14	98,406,267 (GRCm39)	missense	probably benign	0.01
R9200:Dach1	UTSW	14	98,065,743 (GRCm39)	missense	probably damaging	1.00
Z1192:Dach1	UTSW	14	98,140,587 (GRCm39)	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