Mutagenetix > Incidental Mutation

Incidental Mutation 'R8453:Dixdc1'

654863

Institutional Source

Beutler Lab

Gene Symbol

Dixdc1

Ensembl Gene

ENSMUSG00000032064

Gene Name

DIX domain containing 1

Synonyms

4930563F16Rik, Ccd1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50662752-50739517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50684886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 413 (Q413R)

Ref Sequence

ENSEMBL: ENSMUSP00000034566 (fasta)

Gene Model

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

AlphaFold

Q80Y83

Predicted Effect

probably benign
Transcript: ENSMUST00000034566
AA Change: Q413R

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: Q413R

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: Q387R

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: Q387R

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: ENSMUST00000120622
AA Change: Q141R

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113934
Gene: ENSMUSG00000032064
AA Change: Q141R

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: Q412R

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: Q412R

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	A	T	5: 90,566,501	R123S	possibly damaging	Het
8030462N17Rik	T	C	18: 77,673,908	E236G	probably damaging	Het
9630041A04Rik	G	T	9: 101,938,685	C23F	possibly damaging	Het
Adam29	T	C	8: 55,873,161	H86R	possibly damaging	Het
Alas1	C	T	9: 106,236,522	R508Q	possibly damaging	Het
Bmp3	G	A	5: 98,855,423		probably null	Het
Bud13	A	G	9: 46,288,201	T287A	probably benign	Het
C3	T	C	17: 57,212,643	E1203G	probably benign	Het
Carmil2	A	C	8: 105,690,211	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,276,446	T707S	probably damaging	Het
Cfap43	A	T	19: 47,746,647	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,877,231	*590K	probably null	Het
Commd1	C	T	11: 22,978,503		probably benign	Het
Creb3l1	A	T	2: 91,990,929	Y314*	probably null	Het
Ctc1	T	A	11: 69,022,449	S90R	probably benign	Het
Dlg5	T	C	14: 24,158,145	T998A	probably benign	Het
Fam89b	A	G	19: 5,728,875	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,290,735	I400M	probably benign	Het
Gad1	A	T	2: 70,600,713	M567L	probably benign	Het
Gemin5	T	C	11: 58,125,239	S1314G	probably benign	Het
Gm2035	C	T	12: 87,919,553	S102N	probably benign	Het
Gm9195	T	G	14: 72,440,761	I2323L	probably benign	Het
Gria1	T	A	11: 57,243,051	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,309,279	H200L	probably benign	Het
Igsf5	A	G	16: 96,421,796	Q360R	probably benign	Het
Il31ra	A	T	13: 112,524,183	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,387,820	R837G	probably damaging	Het
Lpl	A	G	8: 68,895,781	I221V	probably damaging	Het
Mcf2l	T	C	8: 12,984,956		probably null	Het
Mink1	T	A	11: 70,610,328	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,202	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,988,377	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,332,311	V460E	probably damaging	Het
Nicn1	T	A	9: 108,293,373	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,715,601	Y577C	probably damaging	Het
Nrap	T	C	19: 56,323,920	T1535A	probably damaging	Het
Opa1	G	A	16: 29,620,868	R755H	probably damaging	Het
P4htm	C	T	9: 108,580,367		probably benign	Het
Phldb2	A	G	16: 45,825,022	S354P	probably benign	Het
Phykpl	T	C	11: 51,598,294	S316P	probably damaging	Het
Pnpla1	T	A	17: 28,858,899	D11E	probably benign	Het
Pold2	A	G	11: 5,875,104	F98L	probably damaging	Het
Prph	G	A	15: 99,056,776	R241Q	probably benign	Het
Rcl1	T	C	19: 29,115,759	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,246,752	N117D	probably benign	Het
Sars	G	A	3: 108,428,713	S331L	probably benign	Het
Scfd1	A	C	12: 51,412,591	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,989,348	C363R	probably benign	Het
Senp7	A	G	16: 56,188,328	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sptbn4	A	G	7: 27,404,238	L1191P	probably damaging	Het
Ssfa2	T	C	2: 79,644,785	S363P	probably benign	Het
Stk40	A	G	4: 126,128,973	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,809,048	V536E	probably benign	Het
Suco	A	T	1: 161,823,017		probably benign	Het
Tex15	G	T	8: 33,576,871	E2110*	probably null	Het
Thbs4	G	A	13: 92,790,817	P55S	probably benign	Het
Tmem115	T	C	9: 107,534,798	V107A	probably benign	Het
Tnfaip6	A	C	2: 52,055,867	I242L	probably benign	Het
Trabd	G	T	15: 89,085,413	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,487,740	I86F	probably damaging	Het
Trpc7	A	G	13: 56,822,559	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,610,887	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,561,908	D707V	probably damaging	Het
Vnn3	G	A	10: 23,869,545	R464H	probably benign	Het
Wdr27	T	C	17: 14,892,489	T652A	probably benign	Het
Wdr78	A	G	4: 103,059,916	I577T	possibly damaging	Het
Yeats2	C	T	16: 20,222,887	R1176*	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
R4982:Dixdc1	UTSW	9	50682602	missense	possibly damaging	0.89
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	splice site	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
R8292:Dixdc1	UTSW	9	50710689	missense	probably benign	0.03
R8318:Dixdc1	UTSW	9	50684409	critical splice acceptor site	probably null
R8353:Dixdc1	UTSW	9	50684886	missense	probably benign	0.24
R8462:Dixdc1	UTSW	9	50710779	nonsense	probably null
R8810:Dixdc1	UTSW	9	50701965	missense	probably damaging	1.00
R8871:Dixdc1	UTSW	9	50683796	missense	possibly damaging	0.89
R8872:Dixdc1	UTSW	9	50703153	missense	possibly damaging	0.77
RF016:Dixdc1	UTSW	9	50693641	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAGGTGCTGTGACCTAAGACC -3'
(R):5'- TCCTTATGGCAGGGTCCTTG -3'

Sequencing Primer
(F):5'- CTGTGACCTAAGACCAGAAATGAGTC -3'
(R):5'- ATGGCAGGGTCCTTGTTATTTCC -3'

Posted On

2020-10-20