Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Gdf3'

169441

Institutional Source

Beutler Lab

Gene Symbol

Gdf3

Ensembl Gene

ENSMUSG00000030117

Gene Name

growth differentiation factor 3

Synonyms

Gdf-3, Vgr-2, ecat9, Vgr2

MMRRC Submission

039553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122605403-122610087 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122606337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 357 (D357V)

Ref Sequence

ENSEMBL: ENSMUSP00000032211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032211] [ENSMUST00000112585] [ENSMUST00000112586] [ENSMUST00000147760] [ENSMUST00000203197] [ENSMUST00000203309]

AlphaFold

Q07104

Predicted Effect

probably damaging
Transcript: ENSMUST00000032211
AA Change: D357V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032211
Gene: ENSMUSG00000030117
AA Change: D357V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	57	68	N/A	INTRINSIC
Pfam:TGFb_propeptide	91	222	3.1e-7	PFAM
TGFB	266	366	6.86e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112585

SMART Domains

Protein: ENSMUSP00000108204
Gene: ENSMUSG00000040613

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	15	181	3.6e-38	PFAM
Pfam:APOBEC_C	124	178	9.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112586

SMART Domains

Protein: ENSMUSP00000108205
Gene: ENSMUSG00000040613

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	15	181	3.6e-38	PFAM
Pfam:APOBEC_C	124	178	9.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143356

Predicted Effect

probably benign
Transcript: ENSMUST00000147760

Predicted Effect

probably benign
Transcript: ENSMUST00000203197

Predicted Effect

probably benign
Transcript: ENSMUST00000203309

SMART Domains

Protein: ENSMUSP00000145417
Gene: ENSMUSG00000040613

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	21	121	1.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204882

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

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 is important in embryogenesis and likely plays a role ocular and skeletal development. Mice lacking a functional copy of this gene exhibit defects in early embryonic development resulting in embryonic lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit prenatal lethality and resistance to diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Atf7ip	G	T	6: 136,606,867	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,373,424	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,889,510	D269N	possibly damaging	Het
Btd	T	G	14: 31,667,655	C444W	probably damaging	Het
Cacna1a	A	G	8: 84,601,946	D1624G	probably benign	Het
Carmil3	A	C	14: 55,498,280	N563T	probably damaging	Het
Cars	T	C	7: 143,568,989	R538G	probably benign	Het
Catsperd	A	G	17: 56,654,525	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,695,239	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,999,478	N66S	probably benign	Het
Cd48	T	A	1: 171,695,847	L86H	probably damaging	Het
Cdan1	A	T	2: 120,729,575	H369Q	probably damaging	Het
Chil4	T	C	3: 106,206,034	D189G	probably benign	Het
Cit	T	A	5: 115,873,900	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,464,565	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,775,799	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,605,179		probably null	Het
Dmxl2	A	T	9: 54,446,988	Y391*	probably null	Het
Dnah12	T	C	14: 26,773,692	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,693,660	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,073	C484S	probably benign	Het
Dsg4	A	T	18: 20,449,679	I125F	probably damaging	Het
Egfr	T	A	11: 16,869,301	M277K	possibly damaging	Het
Eml5	G	T	12: 98,831,174	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,346,546	H295N	probably benign	Het
Etl4	T	G	2: 20,743,874	V139G	possibly damaging	Het
Fam160a1	T	A	3: 85,672,477	Y807F	possibly damaging	Het
Frem3	A	T	8: 80,687,018	E1969D	probably damaging	Het
Gimap8	T	A	6: 48,647,529		probably null	Het
Gml2	C	A	15: 74,821,352	S68*	probably null	Het
Gphn	A	G	12: 78,504,629	I248V	possibly damaging	Het
Greb1	A	T	12: 16,724,819	Y192*	probably null	Het
Hmbs	A	C	9: 44,337,432	L215W	probably benign	Het
Iglon5	T	A	7: 43,479,025	T123S	probably benign	Het
Ints2	C	T	11: 86,226,781	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842	L212Q	probably damaging	Het
Itgad	A	G	7: 128,198,121	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,396,492	T51A	probably damaging	Het
Kif1bp	A	G	10: 62,559,408	V485A	probably damaging	Het
Kif9	A	T	9: 110,510,438	K449N	possibly damaging	Het
Klk11	G	A	7: 43,778,909	W241*	probably null	Het
Krt32	T	C	11: 100,084,110		probably null	Het
Loxl1	A	G	9: 58,293,640	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 24,904,923	S571T	probably damaging	Het
Mcam	C	T	9: 44,141,291	R606C	probably damaging	Het
Mtss1	T	C	15: 58,951,672	N282S	probably damaging	Het
Myh13	T	A	11: 67,353,674	D1012E	probably benign	Het
Myo16	A	G	8: 10,502,817	T952A	probably benign	Het
Neb	T	C	2: 52,298,620	D874G	probably damaging	Het
Nek11	A	G	9: 105,163,204	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,105,331	V9D	probably benign	Het
Nxf1	T	A	19: 8,762,436	F51L	probably benign	Het
Olfr1260	T	C	2: 89,978,528	V250A	probably damaging	Het
Olfr1347	T	C	7: 6,488,179	I232V	probably damaging	Het
Olfr1350	A	G	7: 6,570,471	N160S	probably damaging	Het
Olfr170	A	G	16: 19,606,312	S119P	probably benign	Het
Olfr344	A	T	2: 36,568,873	I92F	probably damaging	Het
Olfr397	T	G	11: 73,964,568		probably null	Het
Olfr750	A	G	14: 51,070,734	S220P	probably damaging	Het
Pcdhb8	A	T	18: 37,356,519	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,399,804	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,694,399	H434Q	probably benign	Het
Prpf19	T	A	19: 10,901,022	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,471,826	E319*	probably null	Het
Sel1l3	A	G	5: 53,137,929	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,870,289	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,911	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,928,376	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,740,992	I304N	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Sox17	C	A	1: 4,491,928	G222C	probably damaging	Het
Trmu	T	A	15: 85,895,019	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,837,877	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,247,400	D885E	probably benign	Het
Zfp646	A	G	7: 127,880,136	N495S	probably damaging	Het
Zfp663	T	C	2: 165,352,653	T549A	probably damaging	Het
Zfp935	G	A	13: 62,455,137	A83V	possibly damaging	Het

Other mutations in Gdf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Gdf3	APN	6	122607126	missense	probably damaging	1.00
R0396:Gdf3	UTSW	6	122607135	missense	probably damaging	1.00
R1553:Gdf3	UTSW	6	122609765	missense	probably benign	0.02
R1762:Gdf3	UTSW	6	122606407	missense	possibly damaging	0.71
R1824:Gdf3	UTSW	6	122609962	missense	probably benign	0.33
R2696:Gdf3	UTSW	6	122606900	missense	probably benign
R3963:Gdf3	UTSW	6	122606758	missense	probably benign	0.00
R4113:Gdf3	UTSW	6	122607057	missense	probably damaging	0.96
R5090:Gdf3	UTSW	6	122609754	missense	probably benign	0.12
R5257:Gdf3	UTSW	6	122606386	missense	probably damaging	1.00
R7132:Gdf3	UTSW	6	122606324	missense	probably damaging	1.00
R7615:Gdf3	UTSW	6	122606916	missense	probably benign	0.00
R8171:Gdf3	UTSW	6	122609903	missense	probably benign	0.01
R8417:Gdf3	UTSW	6	122606607	missense	probably damaging	1.00
R8784:Gdf3	UTSW	6	122606320	missense	probably damaging	1.00
R8876:Gdf3	UTSW	6	122606983	missense	probably damaging	0.98
R8929:Gdf3	UTSW	6	122609797	missense

Predicted Primers

PCR Primer
(F):5'- GGGCTCATGAACCATGATGACAGAC -3'
(R):5'- AGCAACCGACTGAAGAACTTGGAC -3'

Sequencing Primer
(F):5'- ACATGTCCGATTCAAGAGAGC -3'
(R):5'- AATTACTGTCATGGAGAGTGCCC -3'

Posted On

2014-04-13