Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Dixdc1'

672355

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 #

R8810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50662752-50739517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50701965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 230 (Q230L)

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: Q230L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: Q230L

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: Q204L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: Q204L

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: Q229L

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

SMART Domains

Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: Q229L

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

Meta Mutation Damage Score

0.0771

Coding Region Coverage

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

Validation Efficiency

99% (82/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 79,099,704	S1408P	probably damaging	Het
Acap3	T	C	4: 155,905,712	V783A	probably damaging	Het
Akap8	T	C	17: 32,306,530	N525S	probably damaging	Het
Aqp1	C	T	6: 55,336,621	T44M	probably damaging	Het
Arap1	T	C	7: 101,404,378	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,250,621	S743A	probably benign	Het
AW551984	G	T	9: 39,600,011	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,273,761	P802T	possibly damaging	Het
Brd8	C	A	18: 34,609,949	V288L	probably benign	Het
Carmil2	T	C	8: 105,686,315		probably null	Het
Catspere2	G	A	1: 178,077,482	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,666,741	R379Q	probably benign	Het
Cdh16	A	G	8: 104,614,504	L116P	probably damaging	Het
Cenpj	A	T	14: 56,558,619	H260Q	possibly damaging	Het
Cenpq	A	G	17: 40,933,136	V17A	possibly damaging	Het
Cep350	T	C	1: 155,928,116	K1074E	probably damaging	Het
Chil4	C	A	3: 106,201,805	C394F	probably damaging	Het
Chst9	T	C	18: 15,717,926	I28V	probably benign	Het
Clasp2	C	A	9: 113,899,581	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,181,310	M45K	probably benign	Het
Cmya5	T	A	13: 93,063,540	T3427S	possibly damaging	Het
Cnih4	A	G	1: 181,162,212	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,304,545	M529K	probably damaging	Het
Ctsr	T	A	13: 61,161,825	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 96,056,916	H351Y	probably benign	Het
Dpep1	A	T	8: 123,200,025	I226F	probably benign	Het
Ehd2	A	G	7: 15,957,678	V243A	probably benign	Het
Etnk2	T	A	1: 133,378,494	Y353N	probably benign	Het
Fgg	G	T	3: 83,013,015	G367V	probably damaging	Het
Gm11639	A	T	11: 104,914,895	N3076I	unknown	Het
Gm609	T	C	16: 45,443,836	T120A	probably benign	Het
Gm9772	T	C	17: 22,006,329	*61Q	probably null	Het
Grk5	T	G	19: 61,089,994	D496E	possibly damaging	Het
Hc	T	C	2: 35,019,523	N915S	probably benign	Het
Iah1	G	T	12: 21,317,387	Q31H	probably benign	Het
Insr	T	C	8: 3,169,714	D936G	probably benign	Het
Ints6	A	C	14: 62,702,453	V596G	probably benign	Het
Ispd	A	T	12: 36,390,482	N130Y	probably damaging	Het
Kcnj16	A	G	11: 111,024,851	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,399,771	I928F	probably damaging	Het
Lrrc41	C	T	4: 116,075,291		probably benign	Het
Lrrc8e	G	A	8: 4,235,070	V432I	probably benign	Het
Mamdc4	T	C	2: 25,568,489	E336G	probably benign	Het
Maml2	C	A	9: 13,621,622	Q711K		Het
Map3k14	T	C	11: 103,227,672	T563A	possibly damaging	Het
Mcu	T	A	10: 59,467,713	K101*	probably null	Het
Mettl22	T	A	16: 8,485,928	V286E	probably damaging	Het
Mon2	A	T	10: 123,009,611	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,697,025		probably benign	Het
Mrpl51	C	T	6: 125,193,381	L117F	probably damaging	Het
Myo1d	C	A	11: 80,674,932	V356F	probably damaging	Het
Myo1d	T	A	11: 80,676,932	I241F	probably benign	Het
Naalad2	A	T	9: 18,385,934		probably benign	Het
Nacad	T	C	11: 6,602,853	T113A	probably benign	Het
Nrap	T	A	19: 56,364,411		probably benign	Het
Olfr1134	T	C	2: 87,656,247	I225V	possibly damaging	Het
Olfr1336	T	C	7: 6,460,764	L85P	probably damaging	Het
Olfr1358	G	A	10: 78,520,450	V281M	possibly damaging	Het
Olfr290	T	A	7: 84,916,418	I213N	possibly damaging	Het
Olfr30	T	C	11: 58,455,110	T280A	possibly damaging	Het
Olfr661	T	A	7: 104,688,180	I55N	probably damaging	Het
Osbpl3	T	C	6: 50,351,872	D117G	probably damaging	Het
Parp9	C	T	16: 35,953,611	R318*	probably null	Het
Pcdhb18	A	G	18: 37,490,321	I235V	probably benign	Het
Pex16	T	G	2: 92,379,021		probably benign	Het
Piezo2	T	A	18: 63,114,963	M489L	probably benign	Het
Pmepa1	C	A	2: 173,227,835	G271V	probably damaging	Het
Safb	A	G	17: 56,603,579	E659G	unknown	Het
Scn9a	T	C	2: 66,501,666	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,775,676	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,693,981	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,029,469	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,229,200	M315I	probably benign	Het
Slc9b2	A	G	3: 135,329,769	D333G	probably benign	Het
Sostdc1	A	G	12: 36,317,230	N135S	possibly damaging	Het
Spg11	T	G	2: 122,070,944	D1505A	probably damaging	Het
Taar7a	T	C	10: 23,993,381	N34S	probably benign	Het
Tcerg1l	C	A	7: 138,209,797	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,688,418	K311R	probably benign	Het
Tepp	A	T	8: 95,321,255		probably benign	Het
Trbv16	T	G	6: 41,152,038	F52C	probably damaging	Het
Ttn	T	A	2: 76,895,672	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,034,912	I192T	probably benign	Het
Vmn2r67	C	T	7: 85,137,138	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,948,260	H452N	possibly damaging	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
R8453:Dixdc1	UTSW	9	50684886	missense	probably benign	0.24
R8462:Dixdc1	UTSW	9	50710779	nonsense	probably null
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'- GGCAAGCACTACCACTAAGCAAT -3'
(R):5'- CACTGCACACTGAATGGCA -3'

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

Posted On

2021-04-30