Mutagenetix > Incidental Mutation

Incidental Mutation 'R8419:Dach1'

653114

Institutional Source

Beutler Lab

Gene Symbol

Dach1

Ensembl Gene

ENSMUSG00000055639

Gene Name

dachshund family transcription factor 1

Synonyms

Dac, E130112M23Rik

MMRRC Submission

067772-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8419 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97786853-98169765 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98168640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 224 (T224A)

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: T224A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064970
Gene: ENSMUSG00000055639
AA Change: T224A

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: T224A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071464
Gene: ENSMUSG00000055639
AA Change: T224A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	T	7: 28,143,921	G745C	probably damaging	Het
9930111J21Rik2	A	T	11: 49,019,485	I707N	probably damaging	Het
Abca14	A	G	7: 120,216,266	I246V	probably benign	Het
Adam19	G	A	11: 46,125,023	A337T	possibly damaging	Het
Ankrd40	G	T	11: 94,334,836	G231V	probably damaging	Het
Arhgap5	G	A	12: 52,518,789	V848I	probably damaging	Het
Bmpr2	G	A	1: 59,867,356	R536H	probably damaging	Het
Casz1	T	A	4: 148,948,583	S1310T	probably benign	Het
Chil1	A	T	1: 134,189,542	D367V	probably damaging	Het
Cltc	A	G	11: 86,707,566	V990A	probably benign	Het
Col6a3	A	T	1: 90,802,213	S1790R	probably damaging	Het
Comt	C	T	16: 18,411,887	W24*	probably null	Het
Cyp2c70	T	C	19: 40,160,580	E374G	possibly damaging	Het
Dapk1	G	A	13: 60,740,097	E656K	probably benign	Het
Dicer1	A	G	12: 104,702,677	S1249P	probably benign	Het
Dpp8	A	C	9: 65,080,755	I861L	probably benign	Het
Enam	C	T	5: 88,503,350	S906L	possibly damaging	Het
Eral1	A	T	11: 78,074,080	I429N	possibly damaging	Het
Fbxo10	C	A	4: 45,041,809	G807C	possibly damaging	Het
Fsip2	G	C	2: 82,978,619	E1761Q	probably damaging	Het
Ggnbp2	C	T	11: 84,837,989		probably null	Het
Gm10696	T	C	3: 94,175,614	I297V	probably benign	Het
Gm13088	A	G	4: 143,656,427	I74T	probably damaging	Het
Gm4353	G	A	7: 116,083,549	P266S	probably benign	Het
Gpr84	T	C	15: 103,309,536	N38S	probably damaging	Het
Guca1a	A	T	17: 47,395,555	I115N	probably damaging	Het
Hic1	C	T	11: 75,166,270	V598M	possibly damaging	Het
Itga1	A	T	13: 115,007,068	I309N	probably damaging	Het
Itga11	T	C	9: 62,755,178	S478P	possibly damaging	Het
Kctd8	T	C	5: 69,340,370	D311G	probably damaging	Het
Klhl32	T	C	4: 24,682,203	E127G	possibly damaging	Het
Lama2	T	A	10: 27,422,563	Y179F	probably benign	Het
Lamb2	G	T	9: 108,488,364	R1382L	probably benign	Het
Mrpl1	C	G	5: 96,226,367	A167G	probably benign	Het
Muc3	A	T	5: 137,146,722	N33K		Het
Myt1	A	T	2: 181,782,606	R31*	probably null	Het
Nectin2	T	C	7: 19,717,721	T463A	probably benign	Het
Nectin2	A	T	7: 19,738,078	Y129N	probably damaging	Het
Olfr103	A	G	17: 37,336,575	I219T	possibly damaging	Het
Olfr1297	A	T	2: 111,621,504	M190K	probably benign	Het
Papolb	T	A	5: 142,528,541	N449I	possibly damaging	Het
Parn	T	C	16: 13,648,474	K236R	probably benign	Het
Prelid1	G	A	13: 55,322,885	R42Q	probably damaging	Het
Prelp	A	G	1: 133,915,282	F42L	probably benign	Het
Pygo1	C	T	9: 72,945,098	P189L	probably damaging	Het
Rimbp3	T	A	16: 17,213,022	S1437T	probably damaging	Het
Slc37a2	T	A	9: 37,237,430	D252V	probably benign	Het
Socs7	A	G	11: 97,363,339	K233R	probably benign	Het
Stat4	A	G	1: 52,098,478	D476G	possibly damaging	Het
Tesmin	A	G	19: 3,389,077	D43G	probably benign	Het
Thap1	C	A	8: 26,158,474	Y8*	probably null	Het
Tln1	A	G	4: 43,536,397	L1965P	probably damaging	Het
Tmprss11d	A	G	5: 86,309,306	S303P	probably damaging	Het
Tomm40	C	T	7: 19,701,834	V324M	probably damaging	Het
Vmn1r202	A	T	13: 22,501,815	I144K	probably damaging	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
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
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'- CGAATGCCCTAGGAAGCATCAG -3'
(R):5'- GGAAACCCGTGTACTCAACC -3'

Sequencing Primer
(F):5'- ACAGAAGGTTTCCCCTCCG -3'
(R):5'- TCAACCCCGTCCCCAGTG -3'

Posted On

2020-10-20