Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Dach1'

252418

Institutional Source

Beutler Lab

Gene Symbol

Dach1

Ensembl Gene

ENSMUSG00000055639

Gene Name

dachshund family transcription factor 1

Synonyms

Dac, E130112M23Rik

MMRRC Submission

040428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98024289-98407201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98138847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 480 (M480T)

Ref Sequence

ENSEMBL: ENSMUSP00000064970 (fasta)

Gene Model

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

AlphaFold

Q9QYB2

Predicted Effect

probably benign
Transcript: ENSMUST00000069334
AA Change: M480T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000064970
Gene: ENSMUSG00000055639
AA Change: M480T

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 benign
Transcript: ENSMUST00000071533
AA Change: M532T

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071464
Gene: ENSMUSG00000055639
AA Change: M532T

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,768,267 (GRCm39)	N763I	probably damaging	Het
Actr8	T	C	14: 29,709,239 (GRCm39)	V281A	probably damaging	Het
Adam1b	A	T	5: 121,639,811 (GRCm39)	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,816,657 (GRCm39)	Q77L	probably damaging	Het
Adgre4	T	A	17: 56,085,878 (GRCm39)	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,192,163 (GRCm39)	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,677,320 (GRCm39)	T434S	probably benign	Het
Bcl10	T	A	3: 145,638,785 (GRCm39)	N142K	probably benign	Het
C1qc	T	C	4: 136,617,402 (GRCm39)	I231M	probably benign	Het
Cacna1b	A	T	2: 24,496,649 (GRCm39)	L2307*	probably null	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 179,977,742 (GRCm39)	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,094,618 (GRCm39)	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cspg4b	C	T	13: 113,455,121 (GRCm39)	T389I	probably benign	Het
Cyp2c50	C	G	19: 40,078,764 (GRCm39)	H90D	probably benign	Het
Dennd1a	A	T	2: 37,734,795 (GRCm39)	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,443,029 (GRCm39)	F355L	probably benign	Het
Drc1	A	G	5: 30,512,609 (GRCm39)	R339G	probably damaging	Het
Efcab3	T	A	11: 104,624,490 (GRCm39)	S840R	probably damaging	Het
Efna5	A	T	17: 63,188,023 (GRCm39)	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,705,753 (GRCm39)	V811A	probably damaging	Het
Fam135a	A	T	1: 24,061,045 (GRCm39)	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,924,740 (GRCm39)	R28L	probably damaging	Het
Gm9936	A	G	5: 114,995,605 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Itgal	T	C	7: 126,913,268 (GRCm39)	F622L	probably damaging	Het
Kalrn	C	T	16: 34,130,865 (GRCm39)	E451K	probably damaging	Het
Kat2a	A	T	11: 100,601,648 (GRCm39)	F256I	probably damaging	Het
Lama4	A	T	10: 38,951,354 (GRCm39)	D1033V	possibly damaging	Het
Lama4	T	A	10: 38,982,043 (GRCm39)	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,659,358 (GRCm39)	Y212H	probably damaging	Het
Lsm10	T	C	4: 125,991,716 (GRCm39)	L24P	probably damaging	Het
Mtcl3	A	T	10: 29,022,761 (GRCm39)	Q36L	possibly damaging	Het
Mtfp1	T	C	11: 4,044,504 (GRCm39)	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,254,678 (GRCm39)	D399E	probably benign	Het
Ncor2	T	C	5: 125,105,864 (GRCm39)		probably null	Het
Nek9	A	C	12: 85,379,320 (GRCm39)	Y195*	probably null	Het
Npas1	T	C	7: 16,208,628 (GRCm39)	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,211,741 (GRCm39)	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,943,503 (GRCm39)	N10S	probably benign	Het
Or2ag12	A	G	7: 106,276,874 (GRCm39)	I273T	probably benign	Het
Or55b10	T	C	7: 102,143,106 (GRCm39)	N292S	probably damaging	Het
Or7e165	T	A	9: 19,695,305 (GRCm39)	L292Q	probably damaging	Het
Pcdha4	A	T	18: 37,086,665 (GRCm39)	T283S	probably benign	Het
Pdk1	A	C	2: 71,703,904 (GRCm39)	D64A	possibly damaging	Het
Pramel17	T	C	4: 101,694,443 (GRCm39)	T147A	probably benign	Het
Ptpdc1	C	T	13: 48,739,539 (GRCm39)	A631T	probably benign	Het
Rasal2	G	T	1: 156,988,870 (GRCm39)	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,336,787 (GRCm39)	V55E	possibly damaging	Het
Shank2	A	T	7: 143,622,507 (GRCm39)	I214F	probably damaging	Het
Slfn14	T	C	11: 83,174,433 (GRCm39)	N186S	probably benign	Het
Sptbn5	A	T	2: 119,879,121 (GRCm39)		noncoding transcript	Het
Stradb	C	T	1: 59,027,743 (GRCm39)	T91I	probably damaging	Het
Sulf2	T	C	2: 165,927,721 (GRCm39)	I359V	probably benign	Het
Tbl3	A	T	17: 24,922,290 (GRCm39)	M405K	possibly damaging	Het
Tecta	G	T	9: 42,243,848 (GRCm39)	D2001E	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgfbi	T	A	13: 56,786,521 (GRCm39)		probably null	Het
Tmem132a	A	T	19: 10,837,106 (GRCm39)	L612Q	probably null	Het
Tnf	T	C	17: 35,419,476 (GRCm39)	N102S	probably damaging	Het
Trib3	A	T	2: 152,185,156 (GRCm39)	V31D	probably benign	Het
Ube2q2	T	A	9: 55,099,140 (GRCm39)	F248L	probably benign	Het
Usf3	T	C	16: 44,036,744 (GRCm39)	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,542,307 (GRCm39)	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,447,585 (GRCm39)	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,318,673 (GRCm39)	N451T	probably damaging	Het
Zfp593	C	A	4: 133,972,869 (GRCm39)		probably benign	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
R1646:Dach1	UTSW	14	98,406,550 (GRCm39)	missense	unknown
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
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'- ACACCTTTTGTTGAGCAGGC -3'
(R):5'- ACAAATTCTAACCATGGAAACGGG -3'

Sequencing Primer
(F):5'- GGCCTAATATTTTATTAACAGTGTGC -3'
(R):5'- GTTCAATGGATAGATGTTAGCC -3'

Posted On

2014-12-04