Mutagenetix > Incidental Mutations

Incidental Mutation 'R9100:Gdf7'

691642

Institutional Source

Beutler Lab

Gene Symbol

Gdf7

Ensembl Gene

ENSMUSG00000037660

Gene Name

growth differentiation factor 7

Synonyms

BMP12

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R9100 (G1)

Quality Score

204.009

Status

Not validated

Chromosome

Chromosomal Location

8297918-8301954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8298652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 215 (F215Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151234 (fasta)

Gene Model

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

AlphaFold

P43029

Predicted Effect

unknown
Transcript: ENSMUST00000037313
AA Change: F223Y

SMART Domains

Protein: ENSMUSP00000038301
Gene: ENSMUSG00000037660
AA Change: F223Y

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: F215Y

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,200,067	T151A	probably benign	Het
4932438A13Rik	A	G	3: 37,044,758	K1256R		Het
Abcc4	A	G	14: 118,616,388	V444A	possibly damaging	Het
Adgrl3	A	C	5: 81,694,452	Q809P	possibly damaging	Het
Ankmy2	T	C	12: 36,186,807	C205R	probably damaging	Het
Atp6v1b2	A	G	8: 69,088,824	N11S		Het
B3gnt6	T	A	7: 98,194,751	M1L	not run	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cdca8	T	C	4: 124,936,445	T45A	probably benign	Het
Ces2b	C	A	8: 104,831,589		probably benign	Het
Clip4	G	A	17: 71,810,889	G310R	probably damaging	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cnot3	A	G	7: 3,658,193	D567G	probably benign	Het
Cnot6l	T	C	5: 96,083,016	D364G	probably damaging	Het
Cpped1	A	G	16: 11,828,555	V111A		Het
Cyp11b2	T	C	15: 74,851,146	K468E	probably damaging	Het
Dpp4	T	G	2: 62,374,389	T245P	possibly damaging	Het
Fat2	A	G	11: 55,262,521	W3622R	probably damaging	Het
Fat4	A	C	3: 39,010,654	K4920Q		Het
Frmpd2	A	G	14: 33,530,450	I656M	probably benign	Het
Gck	A	G	11: 5,906,516	Y214H	probably damaging	Het
Gde1	C	T	7: 118,695,082	R166H	probably benign	Het
Gdpgp1	A	G	7: 80,238,534	I104M	probably benign	Het
Gldc	A	G	19: 30,099,914	S953P	possibly damaging	Het
Gm13089	T	G	4: 143,699,157	N72T	probably benign	Het
Gm5483	T	A	16: 36,187,915	M57K	possibly damaging	Het
Golga3	C	T	5: 110,189,678	H411Y	probably benign	Het
Gpn1	G	T	5: 31,498,396	R101I	probably damaging	Het
Itgb5	T	A	16: 33,920,181	S554T	possibly damaging	Het
Klhl1	G	A	14: 96,346,928	L289F	probably damaging	Het
Klhl13	C	T	X: 23,247,494	R95Q	probably benign	Het
Kmt2d	G	C	15: 98,849,951	T3164R	unknown	Het
Knl1	T	C	2: 119,068,988	V390A	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	GCCACAGCCCCCACAGGAACTACA	7: 142,175,099		probably benign	Het
Lonrf1	AGGCGGCGGCGGCGG	AGGCGGCGGCGG	8: 36,248,765		probably benign	Het
Ltbp1	C	T	17: 75,315,107	L829F	probably benign	Het
Ltbp1	T	A	17: 75,315,108	L829H	probably damaging	Het
Mrgpra1	C	T	7: 47,334,984	E316K	probably damaging	Het
Muc16	T	A	9: 18,645,670	H3109L	unknown	Het
Nck1	T	C	9: 100,495,508	E368G	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Nus1	A	T	10: 52,429,191		probably null	Het
Nxph2	T	C	2: 23,399,768	V44A	probably benign	Het
Olfr1029	A	G	2: 85,975,752	K170E	probably benign	Het
Olfr1161	T	C	2: 88,024,986	I88T	probably benign	Het
Olfr1277	A	G	2: 111,269,749	L206P	probably benign	Het
Olfr1305	A	G	2: 111,873,261	M198T	possibly damaging	Het
Olfr1427	G	T	19: 12,098,890	H250N	probably benign	Het
Olfr213	A	T	6: 116,541,029	N192I	possibly damaging	Het
Olfr390	A	G	11: 73,787,861	K308E	probably benign	Het
Otof	T	C	5: 30,382,352	D1039G	possibly damaging	Het
Parpbp	T	A	10: 88,133,107	Q159L	possibly damaging	Het
Per2	A	T	1: 91,423,742	L1014Q	possibly damaging	Het
Pik3ca	A	G	3: 32,460,019	N885D	probably damaging	Het
Pip5k1c	T	C	10: 81,309,222	V299A	probably benign	Het
Pramef6	T	A	4: 143,897,076	N176I	probably benign	Het
Pus3	C	A	9: 35,565,650	Q248K	probably benign	Het
Sectm1a	T	A	11: 121,069,743	Q82L	possibly damaging	Het
Sema3e	A	G	5: 14,232,194	Y448C	probably damaging	Het
Slc12a4	A	T	8: 105,949,142	S584T	probably benign	Het
Slc25a40	T	C	5: 8,449,613	F249L	probably benign	Het
St3gal6	T	A	16: 58,486,430	N79I		Het
Stxbp4	A	T	11: 90,535,494	I496K	possibly damaging	Het
Sulf1	A	G	1: 12,807,894	Y202C	probably damaging	Het
Swt1	A	G	1: 151,423,505		probably null	Het
Tdrd6	T	C	17: 43,625,414	Y1581C	possibly damaging	Het
Tenm4	G	C	7: 96,845,854	G1163A	probably damaging	Het
Tlr4	A	G	4: 66,840,281	E437G	probably benign	Het
Txnrd2	A	T	16: 18,437,565	H101L	probably damaging	Het
Uba3	A	T	6: 97,186,710	V306E	probably damaging	Het
Unc5b	T	C	10: 60,768,373	Q814R	probably damaging	Het
Vamp5	T	G	6: 72,370,321	E5A	possibly damaging	Het
Vmn1r69	T	A	7: 10,580,137	R222S	probably damaging	Het
Zfp507	G	A	7: 35,795,021	T199I	probably benign	Het
Zfyve19	T	G	2: 119,211,237	L95R	probably benign	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
R2010:Gdf7	UTSW	12	8301729	missense	unknown
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
Z1176:Gdf7	UTSW	12	8298409	missense	unknown
Z1176:Gdf7	UTSW	12	8298578	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCCGGAACAGACTCTCTTTC -3'
(R):5'- TGTTCGACGTATCCAGCCTC -3'

Sequencing Primer
(F):5'- CCTTTGCGTACGGGAGGAGATC -3'
(R):5'- GACGTATCCAGCCTCTCCGAAG -3'

Posted On

2021-12-30