Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02796:Gdf7'

392035

Institutional Source

Beutler Lab

Gene Symbol

Gdf7

Ensembl Gene

ENSMUSG00000037660

Gene Name

growth differentiation factor 7

Synonyms

BMP12

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

IGL02796 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

8347918-8351954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8351666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 90 (S90T)

Ref Sequence

ENSEMBL: ENSMUSP00000151234 (fasta)

Gene Model

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

AlphaFold

P43029

Predicted Effect

unknown
Transcript: ENSMUST00000037313
AA Change: S90T

SMART Domains

Protein: ENSMUSP00000038301
Gene: ENSMUSG00000037660
AA Change: S90T

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: S90T

Meta Mutation Damage Score

0.1408

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	A	T	19: 55,266,601 (GRCm39)	K86*	probably null	Het
Ambp	C	A	4: 63,072,169 (GRCm39)		probably benign	Het
Atp6v0d2	A	T	4: 19,887,324 (GRCm39)	M208K	probably damaging	Het
Brinp1	C	G	4: 68,680,427 (GRCm39)	R701P	probably damaging	Het
Btnl9	T	C	11: 49,060,008 (GRCm39)	D580G	probably damaging	Het
Cand1	A	T	10: 119,049,543 (GRCm39)	L401H	probably damaging	Het
Ccdc66	T	C	14: 27,208,523 (GRCm39)	E577G	possibly damaging	Het
Ccdc93	C	A	1: 121,418,895 (GRCm39)	D483E	probably damaging	Het
Cd38	T	C	5: 44,063,555 (GRCm39)	L216P	probably damaging	Het
Cdr1	C	T	X: 60,228,087 (GRCm39)	D360N	possibly damaging	Het
Cibar2	C	T	8: 120,904,138 (GRCm39)		probably benign	Het
Col9a3	G	T	2: 180,255,955 (GRCm39)	D443Y	probably damaging	Het
Cpt1b	C	T	15: 89,309,005 (GRCm39)	V66I	probably benign	Het
Cyp8b1	T	A	9: 121,744,564 (GRCm39)	Y256F	probably benign	Het
Dennd10	A	G	19: 60,806,081 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 5,757,385 (GRCm39)	N48S	probably benign	Het
Ehd3	T	A	17: 74,123,396 (GRCm39)	L133Q	probably damaging	Het
Eif6	C	A	2: 155,668,068 (GRCm39)	R57L	probably damaging	Het
Fcgbp	T	A	7: 27,800,576 (GRCm39)		probably benign	Het
Fgl1	C	T	8: 41,650,095 (GRCm39)	A229T	probably benign	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Ggta1	T	C	2: 35,303,329 (GRCm39)		probably benign	Het
Gm44859	C	T	19: 12,014,112 (GRCm39)		probably benign	Het
Grin2a	T	C	16: 9,402,972 (GRCm39)	E838G	possibly damaging	Het
Grin2c	A	G	11: 115,141,543 (GRCm39)		probably benign	Het
Grm1	T	C	10: 10,565,411 (GRCm39)	T966A	probably benign	Het
Gtpbp1	A	G	15: 79,601,186 (GRCm39)	I468M	possibly damaging	Het
Gucy1b2	G	A	14: 62,645,143 (GRCm39)	P639S	probably benign	Het
Hat1	T	C	2: 71,250,700 (GRCm39)		probably null	Het
Hira	A	T	16: 18,744,404 (GRCm39)	I374F	probably benign	Het
Htt	C	A	5: 35,034,826 (GRCm39)	Q2024K	probably benign	Het
Kcnj6	A	G	16: 94,633,778 (GRCm39)	M111T	probably benign	Het
Loxhd1	T	A	18: 77,456,811 (GRCm39)		probably benign	Het
Lrif1	T	A	3: 106,642,752 (GRCm39)	M619K	probably benign	Het
Lrrc8b	G	A	5: 105,629,211 (GRCm39)	G519D	probably damaging	Het
Map3k7	A	G	4: 31,979,692 (GRCm39)		probably benign	Het
Or2ah1	T	C	2: 85,653,933 (GRCm39)	I206T	probably benign	Het
Or4d6	T	A	19: 12,086,248 (GRCm39)	I221F	possibly damaging	Het
P2ry12	T	C	3: 59,125,302 (GRCm39)	I124M	probably damaging	Het
Paxbp1	A	G	16: 90,822,182 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,121,474 (GRCm39)	I257N	probably damaging	Het
Psg27	A	T	7: 18,295,875 (GRCm39)	V190E	probably benign	Het
Rabgap1	T	A	2: 37,362,318 (GRCm39)	N54K	probably damaging	Het
Sacm1l	T	A	9: 123,377,989 (GRCm39)	W90R	possibly damaging	Het
Snrpb2	A	T	2: 142,906,487 (GRCm39)	M1L	probably benign	Het
Spata31d1d	A	G	13: 59,876,057 (GRCm39)	Y493H	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Spocd1	A	G	4: 129,841,548 (GRCm39)		probably benign	Het
Tbc1d5	G	T	17: 51,273,652 (GRCm39)	H123Q	probably damaging	Het
Ttn	T	C	2: 76,608,445 (GRCm39)	N17826S	probably damaging	Het
Tubgcp6	A	G	15: 89,006,593 (GRCm39)	I143T	probably benign	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Zfhx4	G	A	3: 5,464,599 (GRCm39)	V1586M	probably damaging	Het
Zfp146	C	T	7: 29,861,983 (GRCm39)	V20I	probably benign	Het
Zfp263	G	A	16: 3,564,740 (GRCm39)	E252K	probably benign	Het

Other mutations in Gdf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0781:Gdf7	UTSW	12	8,351,555 (GRCm39)	splice site	probably benign
R1457:Gdf7	UTSW	12	8,348,073 (GRCm39)	missense	probably damaging	0.97
R1556:Gdf7	UTSW	12	8,351,698 (GRCm39)	missense	unknown
R1643:Gdf7	UTSW	12	8,347,971 (GRCm39)	missense	probably damaging	1.00
R2010:Gdf7	UTSW	12	8,351,729 (GRCm39)	missense	unknown
R2439:Gdf7	UTSW	12	8,348,050 (GRCm39)	missense	probably damaging	1.00
R2899:Gdf7	UTSW	12	8,348,470 (GRCm39)	missense	unknown
R3894:Gdf7	UTSW	12	8,348,845 (GRCm39)	missense	unknown
R4854:Gdf7	UTSW	12	8,348,014 (GRCm39)	missense	probably damaging	0.99
R5207:Gdf7	UTSW	12	8,348,371 (GRCm39)	missense	unknown
R6199:Gdf7	UTSW	12	8,348,832 (GRCm39)	missense	unknown
R6583:Gdf7	UTSW	12	8,351,758 (GRCm39)	missense	unknown
R7687:Gdf7	UTSW	12	8,348,257 (GRCm39)	nonsense	probably null
R7745:Gdf7	UTSW	12	8,351,854 (GRCm39)	missense	unknown
R8705:Gdf7	UTSW	12	8,348,167 (GRCm39)	missense	probably damaging	0.96
R8845:Gdf7	UTSW	12	8,348,905 (GRCm39)	missense	unknown
R9100:Gdf7	UTSW	12	8,348,652 (GRCm39)	missense	unknown
Z1176:Gdf7	UTSW	12	8,348,578 (GRCm39)	missense	unknown
Z1176:Gdf7	UTSW	12	8,348,409 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCAGGATCGAATCGGGCAG -3'
(R):5'- ACTATGTTCAAAAGGCGTCGG -3'

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

Posted On

2016-06-08