Mutagenetix > Incidental Mutation

Incidental Mutation 'R2260:Gdf10'

243751

Institutional Source

Beutler Lab

Gene Symbol

Gdf10

Ensembl Gene

ENSMUSG00000021943

Gene Name

growth differentiation factor 10

Synonyms

Bmp3b

MMRRC Submission

040260-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2260 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33645544-33658471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33654234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 247 (L247P)

Ref Sequence

ENSEMBL: ENSMUSP00000128621 (fasta)

Gene Model

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

AlphaFold

P97737

Predicted Effect

probably damaging
Transcript: ENSMUST00000168727
AA Change: L247P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943
AA Change: L247P

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

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 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,354,978 (GRCm39)	N1252I	probably damaging	Het
Acot5	A	T	12: 84,122,643 (GRCm39)	H409L	possibly damaging	Het
Adgrv1	A	T	13: 81,716,493 (GRCm39)	V840E	probably damaging	Het
Adnp2	A	T	18: 80,171,664 (GRCm39)	M915K	probably benign	Het
Cd101	G	C	3: 100,924,261 (GRCm39)	L393V	possibly damaging	Het
Cd177	A	G	7: 24,455,661 (GRCm39)	V287A	possibly damaging	Het
Cdc37l1	A	T	19: 28,984,448 (GRCm39)	K194N	probably benign	Het
Cep126	T	C	9: 8,101,749 (GRCm39)	T262A	possibly damaging	Het
Chit1	A	G	1: 134,078,865 (GRCm39)	S392G	probably benign	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Dusp12	C	T	1: 170,708,580 (GRCm39)	R120H	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Entpd2	C	T	2: 25,288,099 (GRCm39)	P108S	probably damaging	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Ftcd	T	A	10: 76,423,893 (GRCm39)		probably null	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Gja4	C	A	4: 127,206,623 (GRCm39)	D47Y	probably damaging	Het
Gsn	G	A	2: 35,180,349 (GRCm39)	G130E	probably damaging	Het
Hrc	C	A	7: 44,986,105 (GRCm39)	R419S	possibly damaging	Het
Itfg1	C	T	8: 86,449,306 (GRCm39)	C576Y	probably damaging	Het
Lama1	G	T	17: 68,044,502 (GRCm39)	A134S	probably damaging	Het
Larp4	T	G	15: 99,895,277 (GRCm39)	F283L	possibly damaging	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mettl18	T	A	1: 163,824,394 (GRCm39)	D238E	probably benign	Het
Mfn1	G	T	3: 32,617,575 (GRCm39)	E74*	probably null	Het
Mfn2	C	A	4: 147,979,063 (GRCm39)	E90*	probably null	Het
Mill2	T	A	7: 18,590,413 (GRCm39)	D164E	probably benign	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Nt5c1b	A	T	12: 10,424,965 (GRCm39)	R170S	probably damaging	Het
Or10ak11	T	C	4: 118,687,359 (GRCm39)	I93V	probably damaging	Het
Or4c100	G	A	2: 88,356,730 (GRCm39)	V268I	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pald1	G	A	10: 61,188,750 (GRCm39)	R87W	probably damaging	Het
Paox	T	A	7: 139,713,967 (GRCm39)	Y242*	probably null	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkd1l3	A	G	8: 110,350,268 (GRCm39)	Q371R	probably benign	Het
Plaat5	C	T	19: 7,590,111 (GRCm39)	R46C	probably damaging	Het
Ptprk	A	G	10: 28,082,145 (GRCm39)	D38G	possibly damaging	Het
Rag2	G	A	2: 101,460,583 (GRCm39)	E298K	probably benign	Het
Rbm12b2	G	A	4: 12,095,061 (GRCm39)	R640H	probably benign	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rims2	G	T	15: 39,341,962 (GRCm39)	E604*	probably null	Het
Rin2	A	G	2: 145,720,824 (GRCm39)	D719G	probably damaging	Het
Sash1	G	A	10: 8,662,142 (GRCm39)	Q155*	probably null	Het
Tacr1	A	T	6: 82,380,756 (GRCm39)	I56F	probably damaging	Het
Tbc1d4	G	A	14: 101,731,847 (GRCm39)	T455M	probably damaging	Het
Tex24	C	T	8: 27,834,883 (GRCm39)	T137I	probably damaging	Het
Tmem200a	A	C	10: 25,869,313 (GRCm39)	S319A	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmprss11f	G	A	5: 86,739,269 (GRCm39)	A4V	probably benign	Het
Triobp	T	G	15: 78,875,640 (GRCm39)		probably null	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Vmn2r11	A	T	5: 109,201,657 (GRCm39)	Y282*	probably null	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	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
R1219: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
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'- AGTCTTTCCCAGAACACCGC -3'
(R):5'- AAATTCTGGGCATGCAGGG -3'

Sequencing Primer
(F):5'- GAACACCGCCACTCAGGG -3'
(R):5'- GCAGGCGCTGGTCTTTCATC -3'

Posted On

2014-10-16