Mutagenetix > Incidental Mutation

Incidental Mutation 'R2213:Dixdc1'

239525

Institutional Source

Beutler Lab

Gene Symbol

Dixdc1

Ensembl Gene

ENSMUSG00000032064

Gene Name

DIX domain containing 1

Synonyms

Ccd1, 4930563F16Rik

MMRRC Submission

040215-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2213 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50574052-50650817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50613245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 211 (S211P)

Ref Sequence

ENSEMBL: ENSMUSP00000112431 (fasta)

Gene Model

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

AlphaFold

Q80Y83

Predicted Effect

probably benign
Transcript: ENSMUST00000034566
AA Change: S237P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: S237P

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 benign
Transcript: ENSMUST00000117646
AA Change: S211P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: S211P

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 benign
Transcript: ENSMUST00000121634
AA Change: S236P

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

SMART Domains

Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: S236P

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: ENSMUST00000141919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154315

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,326,247 (GRCm39)	D78G	probably damaging	Het
Anxa1	C	T	19: 20,360,239 (GRCm39)	R124H	probably damaging	Het
Arhgef4	G	A	1: 34,846,230 (GRCm39)		probably null	Het
C87436	G	A	6: 86,422,455 (GRCm39)	V10I	probably benign	Het
Ces1a	G	T	8: 93,751,853 (GRCm39)	P427Q	probably damaging	Het
Cpm	T	C	10: 117,495,744 (GRCm39)	Y78H	probably damaging	Het
Csmd3	G	A	15: 47,683,843 (GRCm39)	T1663I	possibly damaging	Het
Cul7	T	C	17: 46,962,398 (GRCm39)	F10L	probably damaging	Het
Cyp2j5	T	C	4: 96,547,852 (GRCm39)	N130S	probably benign	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddb1	T	C	19: 10,585,691 (GRCm39)	L135P	probably damaging	Het
Dnah12	G	T	14: 26,460,485 (GRCm39)	K970N	probably benign	Het
Eps15	A	G	4: 109,218,417 (GRCm39)	K391E	probably damaging	Het
Fabp9	A	G	3: 10,259,860 (GRCm39)	V51A	probably damaging	Het
Flg	T	C	3: 93,200,335 (GRCm39)		probably benign	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscb	A	T	12: 64,520,890 (GRCm39)	I192N	possibly damaging	Het
Galntl5	A	G	5: 25,422,527 (GRCm39)	I333V	probably benign	Het
Gcnt3	A	T	9: 69,941,989 (GRCm39)	V193E	probably benign	Het
Gle1	T	C	2: 29,839,313 (GRCm39)	F535S	probably damaging	Het
Gpr87	A	T	3: 59,086,465 (GRCm39)	S347T	probably damaging	Het
Gstm2	C	T	3: 107,893,409 (GRCm39)	R18H	probably damaging	Het
H1f7	T	A	15: 98,154,219 (GRCm39)	Q310L	unknown	Het
Haus6	C	T	4: 86,500,229 (GRCm39)	E927K	possibly damaging	Het
Hunk	A	G	16: 90,229,505 (GRCm39)	N122S	probably damaging	Het
Itih4	T	A	14: 30,612,670 (GRCm39)	V232E	probably damaging	Het
Jag1	G	T	2: 136,931,812 (GRCm39)	D586E	probably benign	Het
Klk1b1	T	C	7: 43,619,905 (GRCm39)	S155P	probably damaging	Het
Lama1	G	T	17: 68,084,029 (GRCm39)	G1424*	probably null	Het
Lrp1	T	A	10: 127,376,571 (GRCm39)	N4279I	probably damaging	Het
Lrrc43	G	A	5: 123,641,640 (GRCm39)	V525I	possibly damaging	Het
Lrrc4c	G	A	2: 97,460,816 (GRCm39)	V481M	probably benign	Het
Mecr	T	A	4: 131,581,126 (GRCm39)		probably null	Het
Megf10	T	A	18: 57,421,081 (GRCm39)	Y906*	probably null	Het
Mpdz	A	G	4: 81,228,409 (GRCm39)	F1319L	probably damaging	Het
Mtf2	A	G	5: 108,248,780 (GRCm39)	E364G	possibly damaging	Het
Nelfe	T	A	17: 35,072,859 (GRCm39)	D160E	probably benign	Het
Nin	A	G	12: 70,092,128 (GRCm39)	L727P	probably damaging	Het
Npat	A	G	9: 53,463,681 (GRCm39)	T155A	probably benign	Het
Nup58	T	C	14: 60,476,945 (GRCm39)	D242G	probably benign	Het
Or4a78	A	T	2: 89,497,891 (GRCm39)	L113Q	probably damaging	Het
Pnlip	T	C	19: 58,662,202 (GRCm39)	V116A	probably benign	Het
Prl7a2	T	A	13: 27,849,051 (GRCm39)	L79F	probably benign	Het
Rbm25	A	T	12: 83,722,856 (GRCm39)	I760L	probably benign	Het
Rbms3	A	T	9: 116,788,534 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps10	C	A	17: 27,849,473 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,863,159 (GRCm39)	E10G	possibly damaging	Het
Smad2	A	T	18: 76,437,697 (GRCm39)	T434S	probably damaging	Het
Sox30	C	T	11: 45,875,679 (GRCm39)	S477F	probably damaging	Het
Speer4a3	G	T	5: 26,158,175 (GRCm39)	T59K	probably benign	Het
Stat4	A	T	1: 52,053,014 (GRCm39)	D65V	probably damaging	Het
Strip2	A	G	6: 29,931,147 (GRCm39)	D366G	probably damaging	Het
Syngap1	C	A	17: 27,172,043 (GRCm39)	R84S	probably damaging	Het
Synpo2l	A	G	14: 20,710,734 (GRCm39)	Y629H	probably damaging	Het
Taf4	A	T	2: 179,577,683 (GRCm39)		probably null	Het
Ttc21a	A	G	9: 119,769,527 (GRCm39)	H68R	probably benign	Het
Txndc8	T	A	4: 57,984,199 (GRCm39)	Q144L	probably benign	Het
Tyr	T	G	7: 87,142,086 (GRCm39)	Q158P	probably damaging	Het
Uchl3	T	A	14: 101,904,106 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,332,123 (GRCm39)	K298R	probably benign	Het
Wrn	T	C	8: 33,747,043 (GRCm39)	N891S	probably benign	Het
Ylpm1	A	G	12: 85,116,492 (GRCm39)	S2125G	probably benign	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
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
R7734:Dixdc1	UTSW	9	50,613,268 (GRCm39)	missense	probably damaging	1.00
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'- CATCTGTACTTTCTGCAGAGCT -3'

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

Posted On

2014-10-15