Mutagenetix > Incidental Mutation

Incidental Mutation 'R7734:Dixdc1'

596058

Institutional Source

Beutler Lab

Gene Symbol

Dixdc1

Ensembl Gene

ENSMUSG00000032064

Gene Name

DIX domain containing 1

Synonyms

Ccd1, 4930563F16Rik

MMRRC Submission

045790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7734 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50574052-50650817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50613268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 229 (Q229P)

Ref Sequence

ENSEMBL: ENSMUSP00000034566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034566] [ENSMUST00000117646] [ENSMUST00000121634]

AlphaFold

Q80Y83

Predicted Effect

probably damaging
Transcript: ENSMUST00000034566
AA Change: Q229P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: Q229P

Domain	Start	End	E-Value	Type
CH	22	151	5.48e-8	SMART
low complexity region	178	190	N/A	INTRINSIC
low complexity region	237	254	N/A	INTRINSIC
coiled coil region	306	338	N/A	INTRINSIC
coiled coil region	359	492	N/A	INTRINSIC
Pfam:DIX	627	706	1.1e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117646
AA Change: Q203P

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

SMART Domains

Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: Q203P

Domain	Start	End	E-Value	Type
CH	22	125	1.25e-11	SMART
low complexity region	152	164	N/A	INTRINSIC
low complexity region	211	228	N/A	INTRINSIC
coiled coil region	280	312	N/A	INTRINSIC
coiled coil region	333	466	N/A	INTRINSIC
Pfam:DIX	600	682	5.1e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121634
AA Change: Q228P

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

SMART Domains

Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: Q228P

Domain	Start	End	E-Value	Type
CH	21	150	5.48e-8	SMART
low complexity region	177	189	N/A	INTRINSIC
low complexity region	236	253	N/A	INTRINSIC
coiled coil region	305	337	N/A	INTRINSIC
coiled coil region	358	491	N/A	INTRINSIC
Pfam:DIX	625	707	5.3e-37	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced spontaneous locomotor activity, abnormal behavior in the elevated plus maze, and deficits in startle reactivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	T	C	9: 69,398,764 (GRCm39)	Y333H	probably benign	Het
Arid1a	A	T	4: 133,408,679 (GRCm39)	F1558I	unknown	Het
Aste1	A	G	9: 105,274,678 (GRCm39)	D306G	probably damaging	Het
Atp2a2	A	G	5: 122,596,590 (GRCm39)	V843A	possibly damaging	Het
Atrip	T	A	9: 108,894,574 (GRCm39)	H451L	probably benign	Het
Cdc42bpb	T	C	12: 111,295,664 (GRCm39)	D200G	probably damaging	Het
Ceacam19	A	C	7: 19,620,520 (GRCm39)	M37R	probably benign	Het
Cemip	G	A	7: 83,606,872 (GRCm39)	R782*	probably null	Het
Cpe	A	T	8: 65,070,654 (GRCm39)	I197N	probably benign	Het
Csmd2	C	A	4: 128,445,850 (GRCm39)	P3307T		Het
Cyp4a12b	C	A	4: 115,268,937 (GRCm39)	Q20K	possibly damaging	Het
Dcaf1	T	C	9: 106,715,878 (GRCm39)	Y332H	probably damaging	Het
Dclk3	A	G	9: 111,298,163 (GRCm39)	H569R	probably damaging	Het
Dcp1b	A	G	6: 119,192,244 (GRCm39)	S387G	probably benign	Het
Ddx24	A	G	12: 103,383,819 (GRCm39)	M590T	possibly damaging	Het
Dnase1l3	T	C	14: 7,977,144 (GRCm38)	R181G	probably benign	Het
Dzip1l	A	T	9: 99,549,735 (GRCm39)	D735V	probably damaging	Het
Edem3	T	C	1: 151,694,336 (GRCm39)	S890P	probably benign	Het
Fuom	A	G	7: 139,679,455 (GRCm39)	L155P	unknown	Het
Gm6408	C	A	5: 146,421,160 (GRCm39)	S263*	probably null	Het
Helz	C	G	11: 107,576,248 (GRCm39)	S1814R	unknown	Het
Hrc	T	C	7: 44,986,100 (GRCm39)	L417P	probably benign	Het
Igdcc4	A	C	9: 65,039,035 (GRCm39)	H894P	probably damaging	Het
Lgr6	C	A	1: 134,930,981 (GRCm39)	V296L	probably damaging	Het
Map3k4	T	A	17: 12,482,998 (GRCm39)	Y573F	probably damaging	Het
Mest	T	C	6: 30,746,299 (GRCm39)	Y296H	unknown	Het
Mettl21a	C	T	1: 64,647,288 (GRCm39)	V90M	probably damaging	Het
Mfsd4b1	A	T	10: 39,883,374 (GRCm39)	N25K	probably damaging	Het
Mmd	T	A	11: 90,167,579 (GRCm39)	F203I	probably damaging	Het
Myo15a	G	A	11: 60,401,108 (GRCm39)	V3028M	probably benign	Het
Nlrp1a	T	A	11: 70,998,826 (GRCm39)	N859I	unknown	Het
Nrcam	T	C	12: 44,584,034 (GRCm39)	L36P	possibly damaging	Het
Nup107	C	A	10: 117,593,917 (GRCm39)	E759*	probably null	Het
Or14a259	A	G	7: 86,013,476 (GRCm39)	I23T	not run	Het
Pcdh7	T	G	5: 57,876,976 (GRCm39)	I177S	probably damaging	Het
Pde6a	T	C	18: 61,365,938 (GRCm39)	I221T	probably benign	Het
Ptpn13	A	T	5: 103,709,828 (GRCm39)	N1497I	probably damaging	Het
Rmc1	T	A	18: 12,322,320 (GRCm39)	I591N	possibly damaging	Het
Rpl4	T	A	9: 64,084,661 (GRCm39)	H245Q	probably benign	Het
Rsf1	C	CCACGGCGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,968,600 (GRCm39)	D291G	possibly damaging	Het
Septin14	T	A	5: 129,760,583 (GRCm39)	I422L	probably benign	Het
Serpina1e	T	C	12: 103,917,151 (GRCm39)	K173E	probably benign	Het
Slc5a1	C	T	5: 33,318,279 (GRCm39)	T644I	probably benign	Het
Slc6a13	A	T	6: 121,314,334 (GRCm39)	T590S	probably benign	Het
Smarca4	C	T	9: 21,578,658 (GRCm39)	T938I	possibly damaging	Het
Stxbp1	A	T	2: 32,691,832 (GRCm39)	D453E	probably benign	Het
Tcf12	C	A	9: 71,829,943 (GRCm39)	V173L	probably benign	Het
Tenm3	A	G	8: 49,099,368 (GRCm39)	C146R	probably damaging	Het
Trim11	T	C	11: 58,869,180 (GRCm39)	C39R	probably damaging	Het
Trim37	A	G	11: 87,068,821 (GRCm39)	Y389C	probably damaging	Het
Ttll8	C	T	15: 88,798,368 (GRCm39)	G789D	probably damaging	Het
Tubb2a	C	T	13: 34,258,776 (GRCm39)	S338N	probably benign	Het
Ulk2	G	A	11: 61,744,127 (GRCm39)	Q50*	probably null	Het
Urgcp	T	C	11: 5,666,406 (GRCm39)	D687G	probably benign	Het
Usp13	C	T	3: 32,892,054 (GRCm39)	H78Y	probably benign	Het
Vmn2r100	T	A	17: 19,742,296 (GRCm39)	D223E	probably benign	Het
Vwc2	G	A	11: 11,065,929 (GRCm39)	A6T	possibly damaging	Het

Other mutations in Dixdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Dixdc1	APN	9	50,579,033 (GRCm39)	missense	probably damaging	0.98
IGL01556:Dixdc1	APN	9	50,617,434 (GRCm39)	missense	probably damaging	1.00
IGL01923:Dixdc1	APN	9	50,606,803 (GRCm39)	missense	possibly damaging	0.87
IGL01933:Dixdc1	APN	9	50,614,558 (GRCm39)	nonsense	probably null
IGL02074:Dixdc1	APN	9	50,613,317 (GRCm39)	missense	probably benign	0.00
IGL02364:Dixdc1	APN	9	50,593,931 (GRCm39)	splice site	probably benign
R0230:Dixdc1	UTSW	9	50,606,807 (GRCm39)	missense	possibly damaging	0.80
R0401:Dixdc1	UTSW	9	50,604,974 (GRCm39)	missense	possibly damaging	0.54
R0410:Dixdc1	UTSW	9	50,596,153 (GRCm39)	missense	probably damaging	1.00
R1028:Dixdc1	UTSW	9	50,614,546 (GRCm39)	missense	probably benign	0.02
R1083:Dixdc1	UTSW	9	50,588,293 (GRCm39)	intron	probably benign
R1672:Dixdc1	UTSW	9	50,601,164 (GRCm39)	missense	probably damaging	1.00
R1752:Dixdc1	UTSW	9	50,593,850 (GRCm39)	missense	probably benign
R2213:Dixdc1	UTSW	9	50,613,245 (GRCm39)	missense	probably benign	0.01
R2289:Dixdc1	UTSW	9	50,595,172 (GRCm39)	critical splice donor site	probably null
R2939:Dixdc1	UTSW	9	50,622,259 (GRCm39)	missense	probably damaging	0.98
R2940:Dixdc1	UTSW	9	50,622,259 (GRCm39)	missense	probably damaging	0.98
R3081:Dixdc1	UTSW	9	50,622,259 (GRCm39)	missense	probably damaging	0.98
R4982:Dixdc1	UTSW	9	50,593,902 (GRCm39)	missense	possibly damaging	0.89
R5250:Dixdc1	UTSW	9	50,595,035 (GRCm39)	missense	possibly damaging	0.88
R5581:Dixdc1	UTSW	9	50,580,780 (GRCm39)	missense	probably damaging	1.00
R5914:Dixdc1	UTSW	9	50,609,888 (GRCm39)	intron	probably benign
R6228:Dixdc1	UTSW	9	50,614,656 (GRCm39)	splice site	probably null
R6346:Dixdc1	UTSW	9	50,595,253 (GRCm39)	missense	probably damaging	1.00
R6370:Dixdc1	UTSW	9	50,593,523 (GRCm39)	splice site	probably null
R7036:Dixdc1	UTSW	9	50,593,864 (GRCm39)	missense	probably benign	0.03
R7074:Dixdc1	UTSW	9	50,601,214 (GRCm39)	missense	possibly damaging	0.83
R7361:Dixdc1	UTSW	9	50,599,953 (GRCm39)	missense	probably damaging	0.99
R8292:Dixdc1	UTSW	9	50,621,989 (GRCm39)	missense	probably benign	0.03
R8318:Dixdc1	UTSW	9	50,595,709 (GRCm39)	critical splice acceptor site	probably null
R8353:Dixdc1	UTSW	9	50,596,186 (GRCm39)	missense	probably benign	0.24
R8453:Dixdc1	UTSW	9	50,596,186 (GRCm39)	missense	probably benign	0.24
R8462:Dixdc1	UTSW	9	50,622,079 (GRCm39)	nonsense	probably null
R8810:Dixdc1	UTSW	9	50,613,265 (GRCm39)	missense	probably damaging	1.00
R8871:Dixdc1	UTSW	9	50,595,096 (GRCm39)	missense	possibly damaging	0.89
R8872:Dixdc1	UTSW	9	50,614,453 (GRCm39)	missense	possibly damaging	0.77
RF016:Dixdc1	UTSW	9	50,604,941 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCAAGCACTACCACTAAGCAAT -3'
(R):5'- CACTGCACACTGAATGGCA -3'

Sequencing Primer
(F):5'- GCCTGAGACTGTTCACTTAGAGAC -3'
(R):5'- CAGGACATCTGTACTTTCTGCAGAG -3'

Posted On

2019-11-12