Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:Dach1'

26163

Institutional Source

Beutler Lab

Gene Symbol

Dach1

Ensembl Gene

ENSMUSG00000055639

Gene Name

dachshund family transcription factor 1

Synonyms

Dac, E130112M23Rik

MMRRC Submission

038543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0334 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98024289-98407201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98406184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 188 (G188R)

Ref Sequence

ENSEMBL: ENSMUSP00000071464 (fasta)

Gene Model

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

AlphaFold

Q9QYB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000069334
AA Change: G188R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064970
Gene: ENSMUSG00000055639
AA Change: G188R

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 damaging
Transcript: ENSMUST00000071533
AA Change: G188R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071464
Gene: ENSMUSG00000055639
AA Change: G188R

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

0.4084

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,508,105 (GRCm39)	N87S	probably benign	Het
Ap2b1	T	C	11: 83,258,700 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,468,029 (GRCm39)	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,311,237 (GRCm39)	Q243*	probably null	Het
Atp8a2	A	T	14: 59,928,961 (GRCm39)	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,008,553 (GRCm39)		probably null	Het
Brinp2	G	T	1: 158,123,155 (GRCm39)	T37K	probably benign	Het
Bsph1	T	A	7: 13,184,864 (GRCm39)	L9*	probably null	Het
C6	T	G	15: 4,784,849 (GRCm39)	N238K	probably benign	Het
Cbs	T	C	17: 31,838,130 (GRCm39)	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,946,329 (GRCm39)	F191S	possibly damaging	Het
Cpz	A	G	5: 35,661,025 (GRCm39)	V530A	probably damaging	Het
Ctsc	G	T	7: 87,927,550 (GRCm39)	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,157,960 (GRCm39)	Y53S	probably damaging	Het
Defb4	T	C	8: 19,251,220 (GRCm39)	I29T	probably benign	Het
Disc1	A	T	8: 125,987,836 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,327,662 (GRCm39)	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,472,213 (GRCm39)	I3518N	possibly damaging	Het
Dnah8	A	T	17: 31,090,325 (GRCm39)	H4609L	probably damaging	Het
Evi5	C	A	5: 107,968,401 (GRCm39)	C182F	probably damaging	Het
Fam149b	G	A	14: 20,413,492 (GRCm39)	R237H	probably damaging	Het
Fut8	T	A	12: 77,440,536 (GRCm39)	D174E	possibly damaging	Het
Ghr	T	C	15: 3,370,580 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gpr176	T	C	2: 118,110,189 (GRCm39)	S357G	probably benign	Het
Grwd1	A	T	7: 45,476,601 (GRCm39)		probably null	Het
H2-T24	A	G	17: 36,325,772 (GRCm39)	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,883,760 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,895,802 (GRCm39)	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 192,924,476 (GRCm39)		probably benign	Het
Igsf23	T	C	7: 19,675,678 (GRCm39)	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,594,888 (GRCm39)	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,252,508 (GRCm39)		probably null	Het
Kdm5b	A	G	1: 134,532,260 (GRCm39)	I479M	probably damaging	Het
Kidins220	A	G	12: 25,058,068 (GRCm39)	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,202,077 (GRCm39)	I216S	probably damaging	Het
Muc21	A	G	17: 35,933,614 (GRCm39)		probably benign	Het
Myo1g	A	G	11: 6,461,084 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 89,780,412 (GRCm39)		probably null	Het
Or2ag2	A	G	7: 106,485,622 (GRCm39)	V134A	probably benign	Het
Or8b54	A	T	9: 38,686,535 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,095,980 (GRCm39)	I169V	probably benign	Het
Pdia5	A	T	16: 35,284,760 (GRCm39)	S66T	possibly damaging	Het
Plec	T	C	15: 76,062,206 (GRCm39)	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,209,918 (GRCm39)	A654S	probably benign	Het
Pnpla2	G	A	7: 141,039,433 (GRCm39)		probably null	Het
Pramel19	T	C	4: 101,798,781 (GRCm39)	F251L	probably benign	Het
Prb1c	T	A	6: 132,341,021 (GRCm39)	Q17L	unknown	Het
Prkdc	A	G	16: 15,554,663 (GRCm39)	D2128G	probably benign	Het
Rabggta	A	T	14: 55,958,268 (GRCm39)	L131Q	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Rnf139	A	G	15: 58,771,322 (GRCm39)	Y449C	probably damaging	Het
Sanbr	A	G	11: 23,567,129 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,524,931 (GRCm39)	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,607,268 (GRCm39)	N321I	probably damaging	Het
Slit3	T	A	11: 35,469,928 (GRCm39)	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,918,256 (GRCm39)	S627P	probably benign	Het
Stat2	T	A	10: 128,113,736 (GRCm39)	F172I	probably damaging	Het
Tchh	C	A	3: 93,352,923 (GRCm39)	R788S	unknown	Het
Tnks	T	A	8: 35,320,413 (GRCm39)	K753*	probably null	Het
Trank1	T	A	9: 111,194,421 (GRCm39)	V815D	probably benign	Het
Trank1	T	A	9: 111,222,008 (GRCm39)	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,344 (GRCm39)	S271P	probably damaging	Het
Trpm5	T	C	7: 142,640,613 (GRCm39)	Q213R	probably benign	Het
Ulk3	C	T	9: 57,501,510 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,147,144 (GRCm39)	S181P	probably damaging	Het
Yipf3	T	C	17: 46,559,238 (GRCm39)	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,713,867 (GRCm39)	H1094Q	probably damaging	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
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
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'- TGTTCCACATTGCACACCACCG -3'
(R):5'- GGCTTTGATCCCTCCGACCCAG -3'

Sequencing Primer
(F):5'- ACCGGCGTGATCTCCAAC -3'
(R):5'- gcgggagcaactgcaac -3'

Posted On

2013-04-16