Mutagenetix > Incidental Mutations

Incidental Mutation 'R0310:Dyx1c1'

216052

Institutional Source

Beutler Lab

Gene Symbol

Dyx1c1

Ensembl Gene

ENSMUSG00000092192

Gene Name

dyslexia susceptibility 1 candidate 1

Synonyms

1700010I24Rik, b2b811Clo, EKN1

MMRRC Submission

038520-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.707) question?

Stock #

R0310 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

72958785-72973064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72972336 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 386 (D386V)

Ref Sequence

ENSEMBL: ENSMUSP00000034734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034734] [ENSMUST00000098567] [ENSMUST00000149692]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034734
AA Change: D386V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034734
Gene: ENSMUSG00000092192
AA Change: D386V

Domain	Start	End	E-Value	Type
Pfam:CS	6	77	5.8e-9	PFAM
coiled coil region	101	161	N/A	INTRINSIC
TPR	288	321	2.56e1	SMART
TPR	322	355	1.26e-1	SMART
TPR	364	397	2.59e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098567
AA Change: D266V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096166
Gene: ENSMUSG00000092192
AA Change: D266V

Domain	Start	End	E-Value	Type
Pfam:CS	6	77	1.3e-14	PFAM
TPR	168	201	2.56e1	SMART
TPR	202	235	1.26e-1	SMART
TPR	244	277	2.59e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149692

SMART Domains

Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865

Domain	Start	End	E-Value	Type
Pfam:CS	6	77	2.1e-9	PFAM
coiled coil region	101	161	N/A	INTRINSIC
Pfam:TPR_11	286	352	2e-14	PFAM
Pfam:TPR_1	322	352	5.6e-6	PFAM
Blast:TPR	364	386	1e-5	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193501

Meta Mutation Damage Score

0.5828

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 93.3%
20x: 82.5%

Validation Efficiency

99% (113/114)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit both pre- and postnatal lethality, hydrocephalus, and defects in organ laterality and ciliary motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,425,671	T92P	probably damaging	Het
9530053A07Rik	G	T	7: 28,142,274	V545L	probably benign	Het
Abca13	T	C	11: 9,293,810	V1891A	probably benign	Het
Abcc1	T	A	16: 14,410,927	I346N	probably damaging	Het
Afdn	G	T	17: 13,885,508		probably null	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Akap13	A	G	7: 75,614,930	D507G	probably damaging	Het
Akap8	A	T	17: 32,316,260	M260K	possibly damaging	Het
Akr1b8	T	C	6: 34,365,259	V265A	probably benign	Het
Alpk3	C	G	7: 81,078,610	P496R	possibly damaging	Het
Ankrd13b	A	G	11: 77,472,745	V249A	possibly damaging	Het
Arid4a	T	C	12: 71,075,830	V995A	probably benign	Het
Ascc3	G	T	10: 50,748,926	V1637L	probably benign	Het
Atad2	G	A	15: 58,114,257	A499V	probably damaging	Het
Barhl2	G	T	5: 106,457,387	A152E	possibly damaging	Het
Bbs12	T	A	3: 37,321,045	D547E	probably damaging	Het
Btaf1	A	G	19: 37,004,534	M1655V	probably damaging	Het
Ccdc50	T	A	16: 27,406,658	H40Q	probably damaging	Het
Ccr9	A	T	9: 123,774,552		probably benign	Het
Cdh15	A	G	8: 122,865,436	D654G	probably damaging	Het
Cebpz	T	C	17: 78,926,124	D758G	probably damaging	Het
Cgn	C	T	3: 94,765,653	R906K	possibly damaging	Het
Chil3	T	A	3: 106,160,523	M109L	possibly damaging	Het
Cntnap4	A	T	8: 112,842,516		probably null	Het
Cyp4f18	C	T	8: 72,001,012		probably benign	Het
Daam2	A	G	17: 49,463,924		probably null	Het
Ddost	T	A	4: 138,310,611	H220Q	probably benign	Het
Dennd2a	C	T	6: 39,464,201		probably benign	Het
Depdc1b	G	A	13: 108,373,841	V296I	possibly damaging	Het
Dnah5	A	T	15: 28,299,110	R1539S	probably benign	Het
Dusp22	T	C	13: 30,705,658	I74T	probably damaging	Het
E130309D02Rik	G	T	5: 143,307,888	T278K	probably benign	Het
Epc1	A	G	18: 6,440,202		probably benign	Het
Epha7	A	G	4: 28,961,301	I845V	probably benign	Het
Fanci	C	T	7: 79,407,417		probably benign	Het
Fbn1	T	A	2: 125,363,644	E1104V	probably damaging	Het
Fbxo8	T	A	8: 56,590,097	F205L	probably damaging	Het
Fetub	T	C	16: 22,929,756		probably benign	Het
Frs3	T	C	17: 47,703,822	V480A	probably benign	Het
Gne	C	A	4: 44,060,157	E79*	probably null	Het
Hrc	T	A	7: 45,336,497	H357Q	probably benign	Het
Idh1	T	C	1: 65,161,920	M291V	probably damaging	Het
Iltifb	T	A	10: 118,293,185	H133L	probably benign	Het
Ino80b	T	C	6: 83,124,091	E165G	probably damaging	Het
Inppl1	A	T	7: 101,828,499		probably benign	Het
Ip6k2	T	C	9: 108,799,233		probably benign	Het
Itga11	A	T	9: 62,760,346	I654F	probably damaging	Het
Jag2	G	T	12: 112,913,377		probably benign	Het
Katna1	G	T	10: 7,743,749		probably benign	Het
Kcnh4	G	T	11: 100,746,169	S707Y	probably benign	Het
Kcnn2	T	G	18: 45,560,518	L387R	probably damaging	Het
Khnyn	A	G	14: 55,887,968	T503A	probably damaging	Het
Lama5	G	T	2: 180,181,566		probably benign	Het
Lmbr1l	A	T	15: 98,908,773		probably benign	Het
Mast4	A	T	13: 102,754,161	S870T	possibly damaging	Het
Med1	A	G	11: 98,167,574	Y266H	probably benign	Het
Med13	A	T	11: 86,346,003	N109K	probably benign	Het
Mgam	T	C	6: 40,761,035		probably benign	Het
Mmp8	A	G	9: 7,561,454	Q153R	probably benign	Het
Mpeg1	C	A	19: 12,461,691	T171N	probably benign	Het
Mtus2	T	C	5: 148,107,019	S806P	probably benign	Het
Naip2	T	A	13: 100,148,842	E1226V	probably damaging	Het
Naip6	A	G	13: 100,308,213	F246L	possibly damaging	Het
Nav3	T	C	10: 109,767,128	I1187V	possibly damaging	Het
Nbeal1	T	C	1: 60,305,370		probably benign	Het
Nbeal2	C	A	9: 110,638,163	V653L	probably damaging	Het
Ndufa9	G	T	6: 126,827,532		probably benign	Het
Nlrp5	G	T	7: 23,430,157	C883F	probably damaging	Het
Nr0b2	C	A	4: 133,555,992		probably null	Het
Olfr24	T	A	9: 18,755,333	M101L	possibly damaging	Het
Olfr799	T	A	10: 129,647,731	V201E	probably damaging	Het
Olfr822	G	A	10: 130,074,823	V138I	probably benign	Het
Olfr888	T	A	9: 38,109,486	S267T	possibly damaging	Het
Pkhd1	A	T	1: 20,549,822		probably null	Het
Pkhd1l1	A	G	15: 44,522,738		probably benign	Het
Ppm1l	A	G	3: 69,549,461	K237R	probably benign	Het
Ppp1r18	T	C	17: 35,873,711		probably benign	Het
Ptpn3	A	T	4: 57,204,958	D734E	probably benign	Het
Pxdn	T	C	12: 30,015,529	C1283R	probably damaging	Het
Rbm12	A	G	2: 156,095,724		probably benign	Het
Rttn	A	T	18: 89,009,460		probably benign	Het
Sgsm1	G	T	5: 113,263,705	H431Q	probably benign	Het
Siah3	A	G	14: 75,525,927	N206S	possibly damaging	Het
Slc22a15	G	T	3: 101,860,511	D521E	probably benign	Het
Sprr2k	A	T	3: 92,433,463		probably benign	Het
Stab2	G	A	10: 86,967,613		probably benign	Het
Sval3	T	A	6: 41,968,186	L16Q	probably damaging	Het
Sycp2	C	G	2: 178,381,855	S456T	probably benign	Het
Tk1	T	C	11: 117,817,095		probably benign	Het
Tlk2	C	A	11: 105,254,973	A335E	probably benign	Het
Tmtc1	T	C	6: 148,249,581	K659E	probably benign	Het
Tnk2	C	T	16: 32,680,590	P907L	probably benign	Het
Trim14	C	A	4: 46,522,043	K211N	probably damaging	Het
Trim15	A	C	17: 36,866,986	L39R	probably damaging	Het
Tspan15	T	A	10: 62,188,093	T269S	probably benign	Het
Ttc7	T	A	17: 87,361,864	D646E	probably benign	Het
Ttll6	A	T	11: 96,147,556	Q410L	probably benign	Het
Unc79	A	G	12: 103,061,407	Q419R	probably damaging	Het
Vcam1	A	T	3: 116,114,416	Y666N	possibly damaging	Het
Vmn1r10	A	T	6: 57,113,501	Y26F	probably damaging	Het
Vmn1r80	A	G	7: 12,193,848	N295S	probably benign	Het
Vmn2r114	A	T	17: 23,290,943	H854Q	probably benign	Het
Vmn2r2	A	T	3: 64,134,618	D225E	probably damaging	Het
Vmn2r4	A	T	3: 64,389,434	Y643*	probably null	Het
Vmn2r52	T	A	7: 10,159,466	Y582F	probably damaging	Het
Vmn2r60	G	T	7: 42,195,140	L642F	possibly damaging	Het
Zbtb20	T	C	16: 43,609,746	S207P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	Het
Zkscan7	G	T	9: 122,888,893	E118*	probably null	Het

Other mutations in Dyx1c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02198:Dyx1c1	APN	9	72969066	missense	probably benign	0.02
R0211:Dyx1c1	UTSW	9	72961367	missense	possibly damaging	0.82
R0712:Dyx1c1	UTSW	9	72960657	nonsense	probably null
R1791:Dyx1c1	UTSW	9	72960684	missense	possibly damaging	0.90
R1927:Dyx1c1	UTSW	9	72960627	missense	probably damaging	0.98
R3085:Dyx1c1	UTSW	9	72972406	missense	probably benign	0.00
R4624:Dyx1c1	UTSW	9	72964171	missense	probably benign	0.01
R4998:Dyx1c1	UTSW	9	72960678	missense	possibly damaging	0.93
R5008:Dyx1c1	UTSW	9	72972318	intron	probably benign
R5200:Dyx1c1	UTSW	9	72972431	missense	probably damaging	1.00
R5256:Dyx1c1	UTSW	9	72972080	critical splice donor site	probably null
R5806:Dyx1c1	UTSW	9	72962054	missense	probably benign	0.06
R5930:Dyx1c1	UTSW	9	72971998	missense	probably damaging	1.00
R6751:Dyx1c1	UTSW	9	72961975	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGCAAGAATGAAGGCACACGTCCG -3'
(R):5'- TCGTCAGGCACTGCCATTCCAAAG -3'

Sequencing Primer
(F):5'- gttagtagacccatttcattgcc -3'
(R):5'- TTCCAAAGGCTCACTAGCG -3'

Posted On

2014-07-17