Mutagenetix > Incidental Mutation

Incidental Mutation 'R0178:Gdf10'

37432

Institutional Source

Beutler Lab

Gene Symbol

Gdf10

Ensembl Gene

ENSMUSG00000021943

Gene Name

growth differentiation factor 10

Synonyms

Bmp3b

MMRRC Submission

038446-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0178 (G1)

Quality Score

139

Status

Validated (trace)

Chromosome

Chromosomal Location

33645544-33658471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33646058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 69 (D69G)

Ref Sequence

ENSEMBL: ENSMUSP00000128621 (fasta)

Gene Model

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

AlphaFold

P97737

Predicted Effect

probably damaging
Transcript: ENSMUST00000168727
AA Change: D69G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943
AA Change: D69G

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

0.2896

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 88.8%

Validation Efficiency

95% (69/73)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	G	14: 35,533,435 (GRCm39)	N111T	probably benign	Het
Abca1	T	C	4: 53,081,953 (GRCm39)	D769G	possibly damaging	Het
Adcy6	G	T	15: 98,502,096 (GRCm39)	Q173K	probably benign	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Arfgap2	C	T	2: 91,097,706 (GRCm39)	A141V	probably benign	Het
Asb2	G	A	12: 103,291,811 (GRCm39)	P324L	probably damaging	Het
Brd10	A	G	19: 29,732,188 (GRCm39)	S342P	probably damaging	Het
Cacna1g	G	A	11: 94,354,309 (GRCm39)	T202I	probably damaging	Het
Capn5	A	G	7: 97,782,098 (GRCm39)	L214P	probably damaging	Het
Cdh20	A	T	1: 104,902,776 (GRCm39)	D489V	possibly damaging	Het
Cers5	C	A	15: 99,644,905 (GRCm39)		probably benign	Het
Chct1	A	G	11: 85,069,264 (GRCm39)	H94R	probably benign	Het
Chrnb3	T	A	8: 27,883,392 (GRCm39)	V111D	probably damaging	Het
Clec2m	T	C	6: 129,303,786 (GRCm39)	R60G	probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cyp2r1	T	C	7: 114,149,643 (GRCm39)	E248G	probably damaging	Het
Dnaaf11	A	C	15: 66,325,950 (GRCm39)	D208E	probably benign	Het
Dnmt3b	A	G	2: 153,516,938 (GRCm39)	T536A	probably benign	Het
Eef2	G	A	10: 81,016,126 (GRCm39)	V496M	possibly damaging	Het
Fam118a	T	C	15: 84,930,081 (GRCm39)		probably benign	Het
Fer1l6	T	A	15: 58,509,763 (GRCm39)		probably null	Het
Fhad1	A	C	4: 141,682,651 (GRCm39)	F497V	probably benign	Het
Gbe1	G	A	16: 70,275,274 (GRCm39)	G358D	probably damaging	Het
Ggt6	A	G	11: 72,327,644 (GRCm39)	H150R	possibly damaging	Het
Gm45713	A	T	7: 44,783,882 (GRCm39)	L110Q	probably damaging	Het
Gm9847	T	C	12: 14,544,649 (GRCm39)		noncoding transcript	Het
Grwd1	T	C	7: 45,480,054 (GRCm39)	E51G	probably damaging	Het
Gvin3	A	T	7: 106,201,028 (GRCm39)	Y739N	probably damaging	Het
H13	A	G	2: 152,522,987 (GRCm39)	Y100C	probably damaging	Het
Kcne1	A	C	16: 92,145,697 (GRCm39)	M49R	probably damaging	Het
Kcnma1	C	T	14: 23,576,835 (GRCm39)	R236H	probably damaging	Het
Knl1	T	A	2: 118,888,886 (GRCm39)		probably benign	Het
Krt40	T	C	11: 99,432,565 (GRCm39)	I150M	probably damaging	Het
Ldb2	A	T	5: 44,630,841 (GRCm39)	V300E	probably damaging	Het
Lrp1b	A	T	2: 40,615,919 (GRCm39)	C3606S	probably damaging	Het
Lrrc42	A	G	4: 107,104,917 (GRCm39)	I16T	probably damaging	Het
Mtus1	G	T	8: 41,455,398 (GRCm39)	L87I	possibly damaging	Het
Myot	T	C	18: 44,470,053 (GRCm39)	F10S	probably damaging	Het
Nrg3	A	T	14: 38,098,413 (GRCm39)	H480Q	probably damaging	Het
Or52b2	G	A	7: 104,986,129 (GRCm39)	R265C	probably benign	Het
Or5ac23	A	T	16: 59,149,783 (GRCm39)	F30I	probably damaging	Het
Prl2c5	A	T	13: 13,366,390 (GRCm39)	D220V	probably damaging	Het
Rbm17	G	A	2: 11,592,590 (GRCm39)	S295L	probably benign	Het
Serpina6	A	G	12: 103,613,172 (GRCm39)	I376T	probably damaging	Het
Sh2d2a	A	T	3: 87,756,730 (GRCm39)	T192S	probably benign	Het
Slc27a1	T	C	8: 72,037,106 (GRCm39)	Y417H	possibly damaging	Het
Slc6a1	T	G	6: 114,281,813 (GRCm39)	I32S	possibly damaging	Het
Sntb1	T	C	15: 55,769,540 (GRCm39)	T150A	probably damaging	Het
Tanc1	T	A	2: 59,665,791 (GRCm39)	C1183*	probably null	Het
Tmprss7	C	A	16: 45,511,206 (GRCm39)	W57C	probably damaging	Het
Ubac1	A	T	2: 25,911,440 (GRCm39)	V36E	possibly damaging	Het
Zfc3h1	T	C	10: 115,242,630 (GRCm39)		probably benign	Het
Zfp644	C	T	5: 106,784,771 (GRCm39)	C592Y	probably 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
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
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'- TGCTACAGAGAGCCAATCCCGATAC -3'
(R):5'- GCCCATCTCCATTCTGTGCCTAAAG -3'

Sequencing Primer
(F):5'- CCTGCTCGGATCAGCTTG -3'
(R):5'- GTCCCAACTGCAAGCTCTG -3'

Posted On

2013-05-13