Mutagenetix > Incidental Mutation

Incidental Mutation 'R2010:Gdf7'

219536

Institutional Source

Beutler Lab

Gene Symbol

Gdf7

Ensembl Gene

ENSMUSG00000037660

Gene Name

growth differentiation factor 7

Synonyms

BMP12

MMRRC Submission

040019-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R2010 (G1)

Quality Score

138

Status

Not validated

Chromosome

Chromosomal Location

8297918-8301954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8301729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 69 (V69M)

Ref Sequence

ENSEMBL: ENSMUSP00000151234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037313] [ENSMUST00000220073]

AlphaFold

P43029

Predicted Effect

unknown
Transcript: ENSMUST00000037313
AA Change: V69M

SMART Domains

Protein: ENSMUSP00000038301
Gene: ENSMUSG00000037660
AA Change: V69M

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TGFb_propeptide	49	275	2.3e-15	PFAM
low complexity region	281	302	N/A	INTRINSIC
low complexity region	308	357	N/A	INTRINSIC
TGFB	360	461	1.14e-63	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000220073
AA Change: V69M

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in the differentiation of tendon cells and spinal cord interneurons. Mice lacking a functional copy of this gene exhibit absence of some spinal dopaminergic neurons and brain defects, male sterility, and premature death. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele lack D1A neurons in the dorsal spinal cord; some develop severe hydrocephaly with dilated ventricles and late-onset brain defects. Mice homozygous for another null allele show premature death, hydrocephaly, aberrant seminal vesicle development and male sterility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,481,806	G74S	unknown	Het
4930452B06Rik	A	T	14: 8,511,021	F464L	probably damaging	Het
4932438A13Rik	T	G	3: 36,928,551	N788K	probably benign	Het
Aimp1	A	T	3: 132,667,492	L229Q	probably benign	Het
Arhgef6	T	C	X: 57,299,505	T52A	possibly damaging	Het
Aste1	C	A	9: 105,403,502	H25Q	probably damaging	Het
Atp13a1	G	A	8: 69,791,360	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,272,778	V634A	probably damaging	Het
C1s1	A	T	6: 124,537,394	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,274,868	S612G	probably damaging	Het
Cdh23	C	A	10: 60,314,227	R2611L	probably damaging	Het
Cilp2	A	G	8: 69,881,694	Y885H	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,956	I1544M	possibly damaging	Het
Dhrs3	C	T	4: 144,927,188	T227I	possibly damaging	Het
Dnah2	A	T	11: 69,458,358		probably null	Het
Dnah3	T	G	7: 120,095,177	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,719,283	I664T	probably benign	Het
Eif4e	C	T	3: 138,555,458	T171I	probably benign	Het
Elfn1	C	T	5: 139,973,316	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,879,372	M1K	probably null	Het
Evi5	C	A	5: 107,813,545		probably null	Het
Fancd2	A	T	6: 113,593,291	D1401V	probably damaging	Het
Fat2	G	A	11: 55,253,827	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,435,802	V55E	probably benign	Het
Fnip1	A	G	11: 54,482,503	D180G	probably damaging	Het
Galc	A	G	12: 98,254,230	F126S	possibly damaging	Het
Glis2	A	G	16: 4,608,711	E22G	probably damaging	Het
Hist1h2bb	G	A	13: 23,747,128	V112M	possibly damaging	Het
Hps4	T	A	5: 112,369,476	V243E	probably damaging	Het
Ighe	T	A	12: 113,271,488	I351F	unknown	Het
Irak4	A	T	15: 94,551,806	R55S	probably damaging	Het
Itpr2	G	A	6: 146,227,524		probably null	Het
Kirrel3	T	C	9: 34,939,198	Y41H	probably damaging	Het
Krr1	A	G	10: 111,975,569	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,301,235	V250I	probably damaging	Het
Lipf	A	G	19: 33,973,546	N306D	probably benign	Het
Lman2l	C	T	1: 36,445,181	W18*	probably null	Het
Lztfl1	T	A	9: 123,702,186	N239I	possibly damaging	Het
Mief1	T	C	15: 80,247,925	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,534	S465*	probably null	Het
Muc2	A	T	7: 141,700,875	T208S	probably damaging	Het
Myh8	A	T	11: 67,297,164	K921*	probably null	Het
Myh9	T	C	15: 77,771,947	E1121G	probably benign	Het
Nbn	T	C	4: 15,969,393	S213P	probably damaging	Het
Nol10	A	G	12: 17,416,101	E499G	probably benign	Het
Nxn	T	C	11: 76,398,801	E87G	probably damaging	Het
Olfr293	A	G	7: 86,664,603	T314A	probably benign	Het
Olfr568	T	A	7: 102,877,685	C188*	probably null	Het
Olfr937	T	C	9: 39,060,099	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,775,354		probably benign	Het
Pigk	A	G	3: 152,766,514	I354M	probably damaging	Het
Pigl	T	A	11: 62,458,682	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,812,114	I400N	probably benign	Het
Prkg2	T	A	5: 99,024,805	H17L	probably benign	Het
Psmd1	T	A	1: 86,075,997	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,278,281	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,294,993	T134A	probably benign	Het
Rims1	T	C	1: 22,296,996	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,872,937	V977A	probably benign	Het
Rusc2	C	T	4: 43,415,212	P173S	probably benign	Het
Selenov	A	T	7: 28,288,022	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,217,323	L148Q	probably damaging	Het
Slc10a1	C	T	12: 80,960,447	V187I	probably benign	Het
Spsb2	A	G	6: 124,810,376	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,687,402	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,475,199		noncoding transcript	Het
Tnrc6a	C	G	7: 123,171,046	H686Q	probably benign	Het
Trpc2	T	A	7: 102,094,573	F715L	probably benign	Het
Ube2t	T	A	1: 134,969,298	I56N	probably benign	Het
Ubr4	T	C	4: 139,480,652	Y4915H	possibly damaging	Het
Usp32	T	A	11: 85,040,004	E533D	probably damaging	Het
Vipr2	T	G	12: 116,122,810		probably null	Het
Vmn1r15	A	G	6: 57,258,284	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,524,447	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,076,208	N139K	probably damaging	Het
Vmn1r232	C	T	17: 20,913,339	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,227,214	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,966,696		probably null	Het

Other mutations in Gdf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02796:Gdf7	UTSW	12	8301666	missense	unknown
R0781:Gdf7	UTSW	12	8301555	splice site	probably benign
R1457:Gdf7	UTSW	12	8298073	missense	probably damaging	0.97
R1556:Gdf7	UTSW	12	8301698	missense	unknown
R1643:Gdf7	UTSW	12	8297971	missense	probably damaging	1.00
R2439:Gdf7	UTSW	12	8298050	missense	probably damaging	1.00
R2899:Gdf7	UTSW	12	8298470	missense	unknown
R3894:Gdf7	UTSW	12	8298845	missense	unknown
R4854:Gdf7	UTSW	12	8298014	missense	probably damaging	0.99
R5207:Gdf7	UTSW	12	8298371	missense	unknown
R6199:Gdf7	UTSW	12	8298832	missense	unknown
R6583:Gdf7	UTSW	12	8301758	missense	unknown
R7687:Gdf7	UTSW	12	8298257	nonsense	probably null
R7745:Gdf7	UTSW	12	8301854	missense	unknown
R8705:Gdf7	UTSW	12	8298167	missense	probably damaging	0.96
R8845:Gdf7	UTSW	12	8298905	missense	unknown
R9100:Gdf7	UTSW	12	8298652	missense	unknown
Z1176:Gdf7	UTSW	12	8298409	missense	unknown
Z1176:Gdf7	UTSW	12	8298578	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGTAAAGTACCTTGAGTTGCTTGG -3'
(R):5'- ATGTTCAAAAGGCGTCGGGG -3'

Sequencing Primer
(F):5'- AGTTGCTTGGTCTGTGAAGCC -3'
(R):5'- AAGGAGCCCATGGACCTG -3'

Posted On

2014-08-25