Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02370:Chrd'

290910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrd

Ensembl Gene

ENSMUSG00000006958

Gene Name

chordin

Synonyms

Chd

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

20733127-20742384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20735791 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 367 (M367V)

Ref Sequence

ENSEMBL: ENSMUSP00000111083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007171] [ENSMUST00000115423] [ENSMUST00000115437] [ENSMUST00000153299] [ENSMUST00000231636] [ENSMUST00000231698] [ENSMUST00000232646]

Predicted Effect

probably benign
Transcript: ENSMUST00000007171
AA Change: M367V

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000007171
Gene: ENSMUSG00000006958
AA Change: M367V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VWC	51	125	9.33e-2	SMART
CHRD	170	274	1.27e-14	SMART
CHRD	281	395	4.63e-17	SMART
CHRD	400	517	7.81e-24	SMART
CHRD	528	643	2.03e-31	SMART
low complexity region	676	687	N/A	INTRINSIC
VWC	701	758	4.69e-10	SMART
VWC	779	845	5.3e-9	SMART
VWC	867	927	1.68e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115423
AA Change: M367V

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111083
Gene: ENSMUSG00000006958
AA Change: M367V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VWC	51	125	9.33e-2	SMART
CHRD	170	274	1.27e-14	SMART
CHRD	281	395	4.63e-17	SMART
CHRD	400	517	7.81e-24	SMART
CHRD	528	605	3.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115437

SMART Domains

Protein: ENSMUSP00000111097
Gene: ENSMUSG00000022847

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:EPO_TPO	25	193	5.4e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151150

Predicted Effect

probably benign
Transcript: ENSMUST00000153299

SMART Domains

Protein: ENSMUSP00000138259
Gene: ENSMUSG00000006958

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VWC	51	125	9.33e-2	SMART
Blast:CHRD	170	236	1e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000231636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231689

Predicted Effect

probably benign
Transcript: ENSMUST00000231698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232104

Predicted Effect

probably benign
Transcript: ENSMUST00000232646
AA Change: M389V

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a targeted null mutation show some death prior to embryonic day 8.5, but most die perinatally with abnormalities of the skull, malformations of cervical and thoracic vertebrae, cardiovascular defects, and absence of parathyroid and thymus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,263,074	V482A	probably benign	Het
4732471J01Rik	T	C	7: 25,384,888		probably benign	Het
Abra	T	C	15: 41,869,244	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,356,532	N199D	probably damaging	Het
Baz2b	A	T	2: 59,923,589	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,085,347	I312V	probably damaging	Het
Clec12a	C	T	6: 129,354,576	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,471,950		probably null	Het
Cntnap3	A	T	13: 64,751,751	M976K	probably benign	Het
Cyp27b1	T	C	10: 127,050,674		probably benign	Het
Ddx54	T	A	5: 120,619,787	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,635,397	V407A	probably benign	Het
Elp4	A	G	2: 105,794,592	S201P	probably damaging	Het
Exoc3	A	T	13: 74,192,761	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671	I117T	probably damaging	Het
Gbx2	A	T	1: 89,929,149		probably benign	Het
Gm4858	A	G	3: 93,074,047	D124G	possibly damaging	Het
Hnf1b	A	C	11: 83,882,733	T253P	possibly damaging	Het
Itih5	A	T	2: 10,186,975	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,710,935	N677S	probably benign	Het
Knstrn	T	A	2: 118,823,788		probably null	Het
Lin9	G	T	1: 180,688,018	C451F	probably damaging	Het
Mast1	A	C	8: 84,912,254	V1482G	probably benign	Het
Mroh4	A	G	15: 74,625,541	F144L	probably benign	Het
Myrf	T	C	19: 10,214,140	N945D	probably benign	Het
Nfrkb	G	A	9: 31,389,012	G33D	probably benign	Het
Olfr1036	C	A	2: 86,074,788	T16K	probably damaging	Het
P2ry13	T	C	3: 59,209,465	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,514,592		probably null	Het
Pitpnm3	A	G	11: 72,051,858	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,137,348	R266W	probably damaging	Het
Rcn3	T	C	7: 45,083,333	S304G	probably benign	Het
Rinl	A	G	7: 28,794,972		probably null	Het
Sema5a	T	C	15: 32,682,299		probably benign	Het
Sipa1l2	A	G	8: 125,480,269	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,877,629	I656T	probably benign	Het
Sptan1	A	G	2: 30,030,740	K2404R	probably damaging	Het
Tarsl2	C	A	7: 65,661,165	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,495,218	V627I	possibly damaging	Het
Tfcp2	A	T	15: 100,512,304	V394D	probably damaging	Het
Trerf1	C	T	17: 47,314,461		noncoding transcript	Het
Ucp2	A	G	7: 100,498,384	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,064,191	Q498R	probably benign	Het
Yeats2	T	A	16: 20,150,471	I4N	probably damaging	Het
Zfp574	T	G	7: 25,079,589	I12S	possibly damaging	Het
Zscan29	T	A	2: 121,163,833	E522V	probably benign	Het

Other mutations in Chrd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Chrd	APN	16	20741225	missense	possibly damaging	0.89
IGL01486:Chrd	APN	16	20734140	splice site	probably null
IGL02120:Chrd	APN	16	20734541	missense	probably damaging	1.00
IGL02675:Chrd	APN	16	20739949	splice site	probably benign
IGL02678:Chrd	APN	16	20734020	missense	probably damaging	1.00
IGL02874:Chrd	APN	16	20735196	missense	probably damaging	1.00
ANU74:Chrd	UTSW	16	20741319	missense	possibly damaging	0.88
PIT1430001:Chrd	UTSW	16	20738998	critical splice donor site	probably null
R0016:Chrd	UTSW	16	20734308	missense	possibly damaging	0.85
R0230:Chrd	UTSW	16	20733275	missense	probably benign	0.25
R0605:Chrd	UTSW	16	20735439	missense	probably damaging	1.00
R0831:Chrd	UTSW	16	20741309	missense	probably damaging	0.99
R1501:Chrd	UTSW	16	20737533	missense	probably damaging	1.00
R1659:Chrd	UTSW	16	20735831	missense	probably damaging	0.96
R1766:Chrd	UTSW	16	20737441	missense	probably damaging	1.00
R1823:Chrd	UTSW	16	20741347	splice site	probably benign
R3001:Chrd	UTSW	16	20737445	nonsense	probably null
R3002:Chrd	UTSW	16	20737445	nonsense	probably null
R3874:Chrd	UTSW	16	20738910	missense	probably damaging	0.99
R4319:Chrd	UTSW	16	20737048	missense	probably damaging	0.99
R4587:Chrd	UTSW	16	20738575	missense	possibly damaging	0.58
R4707:Chrd	UTSW	16	20738808	missense	possibly damaging	0.58
R4857:Chrd	UTSW	16	20738758	missense	possibly damaging	0.79
R5204:Chrd	UTSW	16	20736072	missense	probably benign	0.02
R5364:Chrd	UTSW	16	20733148	start codon destroyed	probably null	0.03
R5445:Chrd	UTSW	16	20738910	missense	possibly damaging	0.74
R5611:Chrd	UTSW	16	20738974	missense	probably damaging	1.00
R5940:Chrd	UTSW	16	20734586	missense	probably null	0.01
R6004:Chrd	UTSW	16	20735237	missense	possibly damaging	0.92
R6767:Chrd	UTSW	16	20738626	missense	probably benign	0.00
R6798:Chrd	UTSW	16	20734306	missense	probably damaging	1.00
R6801:Chrd	UTSW	16	20735747	missense	possibly damaging	0.68
R6823:Chrd	UTSW	16	20734736	missense	probably damaging	1.00
R6999:Chrd	UTSW	16	20735652	missense	probably benign
R7069:Chrd	UTSW	16	20739433	missense	probably damaging	1.00
R7136:Chrd	UTSW	16	20734522	missense	possibly damaging	0.82
R7273:Chrd	UTSW	16	20741566	missense	probably benign	0.32
R7558:Chrd	UTSW	16	20738554	missense	probably damaging	1.00
X0063:Chrd	UTSW	16	20737564	critical splice donor site	probably null
Z1088:Chrd	UTSW	16	20741255	missense	probably damaging	1.00

Posted On

2015-04-16