Mutagenetix > Incidental Mutation

Incidental Mutation 'R1219:Gdf10'

99951

Institutional Source

Beutler Lab

Gene Symbol

Gdf10

Ensembl Gene

ENSMUSG00000021943

Gene Name

growth differentiation factor 10

Synonyms

Bmp3b

MMRRC Submission

039288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33645544-33658471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33654710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 406 (A406T)

Ref Sequence

ENSEMBL: ENSMUSP00000128621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168727]

AlphaFold

P97737

Predicted Effect

probably benign
Transcript: ENSMUST00000168727
AA Change: A406T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943
AA Change: A406T

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	56	67	N/A	INTRINSIC
TGFB	374	476	1e-50	SMART

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (44/45)

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 has been shown to promote neural repair after stroke and may act as a tumor suppressor. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for disruption of this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	G	15: 57,998,307 (GRCm39)	S22P	probably benign	Het
Atrn	A	T	2: 130,862,927 (GRCm39)	T1336S	possibly damaging	Het
Bltp1	T	A	3: 37,000,619 (GRCm39)	L1266*	probably null	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc113	T	C	8: 96,264,895 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,802,040 (GRCm39)		probably benign	Het
Ciao3	T	C	17: 25,994,075 (GRCm39)	I41T	probably damaging	Het
Dcun1d3	G	T	7: 119,458,631 (GRCm39)	Q135K	probably damaging	Het
Dnah7b	A	C	1: 46,379,280 (GRCm39)	E3671D	probably benign	Het
Eea1	A	G	10: 95,846,623 (GRCm39)		probably benign	Het
Entrep3	T	C	3: 89,091,155 (GRCm39)	V42A	probably damaging	Het
Gm5111	A	G	6: 48,567,328 (GRCm39)		probably benign	Het
Golga3	G	T	5: 110,332,215 (GRCm39)	E50*	probably null	Het
Junb	T	C	8: 85,704,268 (GRCm39)	E264G	probably damaging	Het
Kash5	A	G	7: 44,838,832 (GRCm39)		probably benign	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Krt18	T	C	15: 101,939,723 (GRCm39)		probably benign	Het
Man1a	G	A	10: 53,795,249 (GRCm39)		probably benign	Het
Mapkbp1	G	T	2: 119,849,831 (GRCm39)	G768*	probably null	Het
Mybpc2	A	C	7: 44,165,458 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,275,042 (GRCm39)	C238*	probably null	Het
Ntf3	G	T	6: 126,079,174 (GRCm39)	R98S	possibly damaging	Het
Nup153	T	G	13: 46,840,695 (GRCm39)	Q971P	probably benign	Het
Nup155	A	G	15: 8,146,822 (GRCm39)	T221A	possibly damaging	Het
Ppp2r1b	T	C	9: 50,778,621 (GRCm39)		probably benign	Het
Prkd1	A	T	12: 50,435,125 (GRCm39)	V534E	probably damaging	Het
Rabep2	A	G	7: 126,028,799 (GRCm39)	E26G	probably damaging	Het
Rnf213	C	A	11: 119,327,003 (GRCm39)	N1663K	probably damaging	Het
Slc1a1	G	A	19: 28,882,146 (GRCm39)		probably benign	Het
Slc36a4	T	C	9: 15,634,832 (GRCm39)	Y125H	probably damaging	Het
Slc6a11	G	A	6: 114,202,772 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,862,578 (GRCm39)		probably null	Het
Sumf2	G	T	5: 129,883,613 (GRCm39)	A164S	probably benign	Het
Sv2b	T	C	7: 74,786,160 (GRCm39)	D420G	probably benign	Het
Ube2v1	T	C	2: 167,459,831 (GRCm39)	D56G	probably benign	Het
Ung	A	G	5: 114,270,228 (GRCm39)		probably benign	Het
Vcan	T	C	13: 89,828,023 (GRCm39)	Y2181C	probably damaging	Het
Vmn1r238	G	A	18: 3,123,135 (GRCm39)	T93I	possibly damaging	Het
Vmn2r14	A	C	5: 109,372,440 (GRCm39)	S17A	probably benign	Het
Vmn2r25	A	G	6: 123,816,282 (GRCm39)	V433A	probably benign	Het
Zfp36l2	A	G	17: 84,495,070 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp839	A	G	12: 110,834,707 (GRCm39)	D654G	possibly damaging	Het

Other mutations in Gdf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02558:Gdf10	APN	14	33,645,937 (GRCm39)	missense	probably benign
IGL03203:Gdf10	APN	14	33,656,430 (GRCm39)	missense	possibly damaging	0.94
R0178:Gdf10	UTSW	14	33,646,058 (GRCm39)	missense	probably damaging	1.00
R0890:Gdf10	UTSW	14	33,654,113 (GRCm39)	missense	possibly damaging	0.57
R1218:Gdf10	UTSW	14	33,654,710 (GRCm39)	missense	probably benign	0.01
R1221:Gdf10	UTSW	14	33,654,710 (GRCm39)	missense	probably benign	0.01
R1670:Gdf10	UTSW	14	33,654,000 (GRCm39)	missense	possibly damaging	0.92
R1956:Gdf10	UTSW	14	33,654,710 (GRCm39)	missense	probably benign	0.01
R1957:Gdf10	UTSW	14	33,654,710 (GRCm39)	missense	probably benign	0.01
R1958:Gdf10	UTSW	14	33,654,710 (GRCm39)	missense	probably benign	0.01
R2154:Gdf10	UTSW	14	33,656,346 (GRCm39)	missense	probably damaging	0.99
R2260:Gdf10	UTSW	14	33,654,234 (GRCm39)	missense	probably damaging	1.00
R2971:Gdf10	UTSW	14	33,646,148 (GRCm39)	missense	probably damaging	1.00
R3896:Gdf10	UTSW	14	33,656,438 (GRCm39)	missense	probably damaging	1.00
R4027:Gdf10	UTSW	14	33,654,572 (GRCm39)	missense	probably damaging	1.00
R4393:Gdf10	UTSW	14	33,654,695 (GRCm39)	missense	probably damaging	1.00
R4782:Gdf10	UTSW	14	33,653,870 (GRCm39)	missense	probably benign	0.00
R5436:Gdf10	UTSW	14	33,654,213 (GRCm39)	missense	probably damaging	0.97
R5829:Gdf10	UTSW	14	33,654,674 (GRCm39)	missense	probably damaging	0.99
R6387:Gdf10	UTSW	14	33,645,961 (GRCm39)	missense	probably benign	0.05
R8346:Gdf10	UTSW	14	33,653,802 (GRCm39)	missense	probably benign	0.00
R8742:Gdf10	UTSW	14	33,654,426 (GRCm39)	missense	probably benign	0.00
R9086:Gdf10	UTSW	14	33,654,221 (GRCm39)	missense	probably damaging	1.00
R9517:Gdf10	UTSW	14	33,654,522 (GRCm39)	missense	probably benign	0.31
Z1088:Gdf10	UTSW	14	33,654,347 (GRCm39)	missense	probably damaging	1.00
Z1176:Gdf10	UTSW	14	33,654,489 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGCTGGACTTTGACGAGAAGACG -3'
(R):5'- CACCTGGGATACATGCAGAGACAC -3'

Sequencing Primer
(F):5'- CTTTGACGAGAAGACGATGCAG -3'
(R):5'- TGGTAACAGATTATGGGGACATC -3'

Posted On

2014-01-15