Mutagenetix > Incidental Mutations

Incidental Mutation 'R4982:Dixdc1'

384925

Institutional Source

Beutler Lab

Gene Symbol

Dixdc1

Ensembl Gene

ENSMUSG00000032064

Gene Name

DIX domain containing 1

Synonyms

4930563F16Rik, Ccd1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50662752-50739517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50682602 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 488 (S488P)

Ref Sequence

ENSEMBL: ENSMUSP00000112431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034566] [ENSMUST00000117646] [ENSMUST00000120622] [ENSMUST00000121634]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034566
AA Change: S514P

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: S514P

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

possibly damaging
Transcript: ENSMUST00000117646
AA Change: S488P

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: S488P

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

noncoding transcript
Transcript: ENSMUST00000119449

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120622
AA Change: S242P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113934
Gene: ENSMUSG00000032064
AA Change: S242P

Domain	Start	End	E-Value	Type
coiled coil region	34	66	N/A	INTRINSIC
coiled coil region	87	220	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121634
AA Change: S513P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: S513P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141919

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,348	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,835,230	S287P	probably damaging	Het
Atxn2	G	T	5: 121,814,343	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,932,208		probably null	Het
Bbs2	A	G	8: 94,082,354		probably null	Het
Bcl11b	A	T	12: 107,965,772	C180*	probably null	Het
Bod1l	A	G	5: 41,820,473	V1166A	probably benign	Het
Bora	C	T	14: 99,047,352	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,613,241	E24G	probably benign	Het
Ccne1	A	T	7: 38,100,571	I196N	probably damaging	Het
Chsy3	C	T	18: 59,409,575	S595L	probably benign	Het
Chsy3	T	A	18: 59,409,767	I659N	possibly damaging	Het
Cntrob	T	A	11: 69,311,362		probably null	Het
Col5a2	G	A	1: 45,389,458	P983S	possibly damaging	Het
Crat	T	A	2: 30,407,136		probably null	Het
Ctnnbl1	C	T	2: 157,836,553	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,255,387	V83A	possibly damaging	Het
Dmrta1	T	C	4: 89,688,564	C86R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Fam171a1	G	A	2: 3,178,468		probably null	Het
Fam222b	T	C	11: 78,154,743	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,702,651		probably benign	Het
Fes	T	C	7: 80,387,204	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,707,999	V51A	probably benign	Het
Gpr75	C	A	11: 30,891,462	H122Q	probably damaging	Het
Gpr75	C	T	11: 30,891,463	L123F	possibly damaging	Het
Greb1	A	G	12: 16,724,761	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512	H1041R	probably benign	Het
Ifna5	A	G	4: 88,835,624	N34D	probably damaging	Het
Ift140	A	T	17: 25,036,994	H221L	probably damaging	Het
Igsf3	T	C	3: 101,435,667	V540A	probably benign	Het
Il10ra	A	G	9: 45,269,059	L5S	probably damaging	Het
Klra2	A	T	6: 131,220,189	D282E	probably benign	Het
Lyst	T	A	13: 13,725,954	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,042,129	T1689A	probably benign	Het
Mon2	A	T	10: 122,995,789	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,836,327	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,809,456		probably benign	Het
Mybbp1a	T	C	11: 72,445,214	I451T	probably damaging	Het
Myh7	T	A	14: 54,972,767	E1827V	probably damaging	Het
Olfr132	A	T	17: 38,130,577	I205N	probably damaging	Het
Olfr145	C	A	9: 37,897,515	T37N	probably damaging	Het
Olfr342	A	T	2: 36,527,397		probably null	Het
Olfr501-ps1	T	A	7: 108,508,648	Y197*	probably null	Het
Os9	C	T	10: 127,121,051	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,669,423	N107D	probably benign	Het
Pclo	C	T	5: 14,679,294		probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phtf1	T	A	3: 103,998,708	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,818,996	L913R	probably damaging	Het
Pld1	C	A	3: 28,031,298	A201D	probably damaging	Het
Rorb	T	A	19: 18,977,688	Q103L	probably benign	Het
Sec24d	C	T	3: 123,299,606	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,157,754	I86V	probably benign	Het
Serpinb6a	A	T	13: 33,918,874	M201K	probably damaging	Het
Snx8	A	G	5: 140,352,234	S219P	probably benign	Het
Sp8	C	T	12: 118,848,425	T5I	probably damaging	Het
Tanc1	A	G	2: 59,799,943	N749D	probably damaging	Het
Tarm1	G	C	7: 3,489,096	P284A	probably damaging	Het
Tbx15	A	T	3: 99,254,074	E65V	probably benign	Het
Ticam1	T	A	17: 56,272,020	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,492,815	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,107,504	*310W	probably null	Het
Tsks	C	T	7: 44,943,994	T128I	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,886,606	F702S	probably benign	Het
Vmn1r175	A	T	7: 23,809,069	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,933,865	I41T	probably damaging	Het
Ythdc2	A	G	18: 44,871,465	N1102S	probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	Het

Other mutations in Dixdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Dixdc1	APN	9	50667733	missense	probably damaging	0.98
IGL01556:Dixdc1	APN	9	50706134	missense	probably damaging	1.00
IGL01923:Dixdc1	APN	9	50695503	missense	possibly damaging	0.87
IGL01933:Dixdc1	APN	9	50703258	nonsense	probably null
IGL02074:Dixdc1	APN	9	50702017	missense	probably benign	0.00
IGL02364:Dixdc1	APN	9	50682631	splice site	probably benign
R0230:Dixdc1	UTSW	9	50695507	missense	possibly damaging	0.80
R0401:Dixdc1	UTSW	9	50693674	missense	possibly damaging	0.54
R0410:Dixdc1	UTSW	9	50684853	missense	probably damaging	1.00
R1028:Dixdc1	UTSW	9	50703246	missense	probably benign	0.02
R1083:Dixdc1	UTSW	9	50676993	intron	probably benign
R1672:Dixdc1	UTSW	9	50689864	missense	probably damaging	1.00
R1752:Dixdc1	UTSW	9	50682550	missense	probably benign
R2213:Dixdc1	UTSW	9	50701945	missense	probably benign	0.01
R2289:Dixdc1	UTSW	9	50683872	critical splice donor site	probably null
R2939:Dixdc1	UTSW	9	50710959	missense	probably damaging	0.98
R2940:Dixdc1	UTSW	9	50710959	missense	probably damaging	0.98
R3081:Dixdc1	UTSW	9	50710959	missense	probably damaging	0.98
R5250:Dixdc1	UTSW	9	50683735	missense	possibly damaging	0.88
R5581:Dixdc1	UTSW	9	50669480	missense	probably damaging	1.00
R5914:Dixdc1	UTSW	9	50698588	intron	probably benign
R6228:Dixdc1	UTSW	9	50703356	splice site	probably null
R6346:Dixdc1	UTSW	9	50683953	missense	probably damaging	1.00
R6370:Dixdc1	UTSW	9	50682223	intron	probably null
R7036:Dixdc1	UTSW	9	50682564	missense	probably benign	0.03
R7074:Dixdc1	UTSW	9	50689914	missense	possibly damaging	0.83
R7361:Dixdc1	UTSW	9	50688653	missense	probably damaging	0.99
R7734:Dixdc1	UTSW	9	50701968	missense	probably damaging	1.00
RF016:Dixdc1	UTSW	9	50693641	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATGTATAGTCAAAGGCTGGG -3'
(R):5'- CTCCAGGTCACTGTAGTGTG -3'

Sequencing Primer
(F):5'- GGCTGGGAATATTTAAAGCTTAGC -3'
(R):5'- ACGTGGATTCTCAGAGTCAGACTC -3'

Posted On

2016-05-10