Mutagenetix > Incidental Mutation

Incidental Mutation 'R4258:Gdf6'

321891

Institutional Source

Beutler Lab

Gene Symbol

Gdf6

Ensembl Gene

ENSMUSG00000051279

Gene Name

growth differentiation factor 6

Synonyms

BMP13

MMRRC Submission

041071-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R4258 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9844372-9862345 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9844877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 134 (V134I)

Ref Sequence

ENSEMBL: ENSMUSP00000062884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057613]

AlphaFold

P43028

Predicted Effect

probably damaging
Transcript: ENSMUST00000057613
AA Change: V134I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062884
Gene: ENSMUSG00000051279
AA Change: V134I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	27	35	N/A	INTRINSIC
Pfam:TGFb_propeptide	67	284	9.9e-24	PFAM
low complexity region	301	319	N/A	INTRINSIC
TGFB	353	454	8.92e-66	SMART

Meta Mutation Damage Score

0.0891

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (60/63)

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 required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mice lacking a functional copy of this gene exhibit joint and skeletal defects. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice show multiple joint and skeletal patterning defects affecting the extremities, inner ear, and skull. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415M13Rik	T	A	17: 54,031,441 (GRCm39)		noncoding transcript	Het
Ank3	T	C	10: 69,840,592 (GRCm39)	I984T	probably benign	Het
Arnt2	T	C	7: 83,960,163 (GRCm39)	T204A	probably damaging	Het
Arsi	T	C	18: 61,050,388 (GRCm39)	W424R	probably damaging	Het
Aspg	A	T	12: 112,087,687 (GRCm39)	N346I	probably benign	Het
Brdt	A	G	5: 107,507,775 (GRCm39)	S668G	probably damaging	Het
Ccdc178	C	T	18: 22,150,392 (GRCm39)		probably null	Het
Cfap58	A	T	19: 47,937,923 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,363,474 (GRCm39)	H319Q	unknown	Het
Colec12	T	C	18: 9,720,950 (GRCm39)	S13P	probably damaging	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cyp2c65	A	C	19: 39,081,872 (GRCm39)	D466A	probably benign	Het
Cyp3a25	T	C	5: 145,928,248 (GRCm39)	K266E	probably damaging	Het
Dennd1b	G	T	1: 138,990,678 (GRCm39)	R214L	probably damaging	Het
Dock9	T	C	14: 121,818,854 (GRCm39)	I1533V	probably benign	Het
Dynlt1a	C	T	17: 6,361,184 (GRCm39)	M102I	probably benign	Het
Edil3	G	T	13: 89,325,272 (GRCm39)	L220F	probably damaging	Het
Eml5	A	G	12: 98,831,693 (GRCm39)	Y383H	probably benign	Het
Epc1	T	A	18: 6,450,130 (GRCm39)	T393S	probably benign	Het
Fbxo8	A	T	8: 57,041,076 (GRCm39)	D164V	probably benign	Het
Gbp4	T	A	5: 105,284,841 (GRCm39)	N16I	probably damaging	Het
Gm5475	A	G	15: 100,322,117 (GRCm39)		probably benign	Het
Gm6430	T	G	1: 96,952,561 (GRCm39)		noncoding transcript	Het
Ighv9-4	A	T	12: 114,263,765 (GRCm39)	V56E	probably damaging	Het
Il3ra	A	T	14: 14,347,961 (GRCm38)	N36Y	probably damaging	Het
Kif7	G	T	7: 79,360,261 (GRCm39)	C325*	probably null	Het
Lipo2	A	T	19: 33,708,328 (GRCm39)	F229I	possibly damaging	Het
Lrba	A	G	3: 86,352,656 (GRCm39)	K1935E	probably damaging	Het
Mki67	A	T	7: 135,297,017 (GRCm39)	D2672E	possibly damaging	Het
Mtf1	A	G	4: 124,732,576 (GRCm39)	T545A	probably benign	Het
Mup6	A	T	4: 60,004,812 (GRCm39)		probably null	Het
Myo9b	T	C	8: 71,808,409 (GRCm39)	V1672A	probably damaging	Het
Nudt16l2	T	C	9: 105,020,767 (GRCm39)	I165V	probably damaging	Het
Or10al6	C	A	17: 38,082,949 (GRCm39)	P135Q	probably damaging	Het
Or10j5	C	T	1: 172,785,205 (GRCm39)	T281I	possibly damaging	Het
Or4k36	A	T	2: 111,145,983 (GRCm39)	H53L	probably benign	Het
Or5d37	T	A	2: 87,923,362 (GRCm39)	N306I	probably damaging	Het
Pcdhgb2	A	T	18: 37,825,102 (GRCm39)	I698F	probably damaging	Het
Pkn3	C	T	2: 29,978,572 (GRCm39)	H665Y	probably damaging	Het
Ppil6	T	A	10: 41,383,531 (GRCm39)	L99*	probably null	Het
Psg22	T	A	7: 18,458,554 (GRCm39)	V376E	probably damaging	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rasa2	A	T	9: 96,439,433 (GRCm39)		probably benign	Het
Schip1	T	A	3: 68,525,963 (GRCm39)	M379K	possibly damaging	Het
Scn9a	A	T	2: 66,395,398 (GRCm39)		probably benign	Het
Sh3tc1	C	T	5: 35,864,322 (GRCm39)	A622T	probably benign	Het
Smarcd2	A	T	11: 106,156,076 (GRCm39)	I292N	probably damaging	Het
Ssxb17	C	T	X: 21,041,167 (GRCm39)	S45N	probably damaging	Het
Stab1	G	A	14: 30,876,629 (GRCm39)	R862C	possibly damaging	Het
Tdrd5	T	A	1: 156,087,312 (GRCm39)	H870L	probably benign	Het
Tnfaip8	A	G	18: 50,223,443 (GRCm39)	R60G	possibly damaging	Het
Traf3ip3	C	T	1: 192,880,254 (GRCm39)	R25Q	probably damaging	Het
Unc5b	T	C	10: 60,601,150 (GRCm39)	Y892C	probably damaging	Het
Vmn2r2	T	G	3: 64,042,118 (GRCm39)	D199A	probably damaging	Het
Washc2	C	A	6: 116,185,202 (GRCm39)	P12Q	probably damaging	Het
Zfp286	T	C	11: 62,671,896 (GRCm39)	I121V	probably benign	Het
Zfp606	T	A	7: 12,228,267 (GRCm39)		probably null	Het

Other mutations in Gdf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4469001:Gdf6	UTSW	4	9,859,569 (GRCm39)	missense	probably damaging	0.96
R0112:Gdf6	UTSW	4	9,844,482 (GRCm39)	missense	probably damaging	0.99
R0609:Gdf6	UTSW	4	9,859,977 (GRCm39)	missense	probably damaging	1.00
R1909:Gdf6	UTSW	4	9,859,971 (GRCm39)	missense	probably damaging	1.00
R2101:Gdf6	UTSW	4	9,860,025 (GRCm39)	missense	probably damaging	1.00
R2220:Gdf6	UTSW	4	9,844,770 (GRCm39)	missense	probably damaging	1.00
R3832:Gdf6	UTSW	4	9,844,568 (GRCm39)	missense	probably benign	0.05
R4077:Gdf6	UTSW	4	9,844,776 (GRCm39)	missense	probably damaging	1.00
R4170:Gdf6	UTSW	4	9,859,650 (GRCm39)	missense	probably benign
R7023:Gdf6	UTSW	4	9,860,210 (GRCm39)	missense	probably damaging	1.00
R7383:Gdf6	UTSW	4	9,859,537 (GRCm39)	missense	probably benign	0.28
R7449:Gdf6	UTSW	4	9,844,494 (GRCm39)	missense	possibly damaging	0.72
R7992:Gdf6	UTSW	4	9,844,652 (GRCm39)	missense	probably benign	0.06
R8058:Gdf6	UTSW	4	9,859,712 (GRCm39)	missense	probably benign	0.00
R8738:Gdf6	UTSW	4	9,859,429 (GRCm39)	missense	probably damaging	0.99
R8802:Gdf6	UTSW	4	9,844,769 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCCACAAGAGAGTGCCG -3'
(R):5'- CAGCTGCACTCAGAATTGGG -3'

Sequencing Primer
(F):5'- TGCGGCAGAAGGACCTC -3'
(R):5'- CACTCAGAATTGGGGGCTTGAG -3'

Posted On

2015-06-20