Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Chrd'

206607

Institutional Source

Beutler Lab

Gene Symbol

Chrd

Ensembl Gene

ENSMUSG00000006958

Gene Name

chordin

Synonyms

Chd

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20733127-20742384 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 20741347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156080 (fasta)

Gene Model

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

AlphaFold

Q9Z0E2

Predicted Effect

probably benign
Transcript: ENSMUST00000007171

SMART Domains

Protein: ENSMUSP00000007171
Gene: ENSMUSG00000006958

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

noncoding transcript
Transcript: ENSMUST00000083438

Predicted Effect

probably benign
Transcript: ENSMUST00000115423

SMART Domains

Protein: ENSMUSP00000111083
Gene: ENSMUSG00000006958

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

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

probably benign
Transcript: ENSMUST00000231698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232104

Predicted Effect

probably benign
Transcript: ENSMUST00000232646

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852		probably null	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cbs	G	A	17: 31,624,271	H229Y	probably damaging	Het
Cct8	G	A	16: 87,490,554	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,327,559	A250T	probably damaging	Het
Ckap2l	A	G	2: 129,275,579	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539	N557S	probably benign	Het
Dct	T	G	14: 118,036,523	N324T	probably benign	Het
Dip2a	A	T	10: 76,278,502	L999*	probably null	Het
Dock10	T	A	1: 80,543,097		probably null	Het
Dync2li1	A	T	17: 84,649,797	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097		probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myocd	C	A	11: 65,178,670	M909I	probably benign	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pcdhb9	A	G	18: 37,402,818	T622A	probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,903,658		probably null	Het
Plekhh2	A	G	17: 84,575,189	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287		probably null	Het
Prcp	A	T	7: 92,928,675	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,270,194	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Rad9a	A	T	19: 4,197,242	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sema6d	A	G	2: 124,659,556		probably null	Het
Slc4a2	C	T	5: 24,427,620	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,961,176		noncoding transcript	Het
Slf2	A	T	19: 44,935,248	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218	P124T	probably benign	Het
Zfp780b	A	T	7: 27,963,100	C677S	possibly damaging	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
IGL02370:Chrd	APN	16	20735791	missense	possibly damaging	0.52
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
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
R7813:Chrd	UTSW	16	20735405	missense	probably benign	0.00
R7965:Chrd	UTSW	16	20739153	missense	probably benign	0.05
R8361:Chrd	UTSW	16	20738737	missense	possibly damaging	0.92
R8549:Chrd	UTSW	16	20741277	missense	probably benign	0.40
R8809:Chrd	UTSW	16	20734520	missense	probably benign	0.19
R8841:Chrd	UTSW	16	20735737	splice site	probably benign
R9027:Chrd	UTSW	16	20736987	missense	probably damaging	1.00
R9166:Chrd	UTSW	16	20735822	missense	probably benign	0.28
R9255:Chrd	UTSW	16	20740051	missense	probably damaging	1.00
R9618:Chrd	UTSW	16	20733628	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

Predicted Primers

PCR Primer
(F):5'- AAACTACTAGGCTAGGGGAATTC -3'
(R):5'- TGAACAATCGTCCCGCTCAC -3'

Sequencing Primer
(F):5'- AGTTGGTTGACCCTTATTGTCTAAC -3'
(R):5'- CCGCTCACAGTGGGGTAC -3'

Posted On

2014-06-23