Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:Smad9'

268700

Institutional Source

Beutler Lab

Gene Symbol

Smad9

Ensembl Gene

ENSMUSG00000027796

Gene Name

SMAD family member 9

Synonyms

SMAD8B, SMAD8A, Madh9, MADH6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54663003-54708678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54696705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 257 (R257W)

Ref Sequence

ENSEMBL: ENSMUSP00000029371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029371]

AlphaFold

Q9JIW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029371
AA Change: R257W

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029371
Gene: ENSMUSG00000027796
AA Change: R257W

Domain	Start	End	E-Value	Type
DWA	29	138	3.47e-68	SMART
DWB	234	406	1.02e-106	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: This gene encodes a member of a family of proteins that act as downstream effectors of the bone morphogenetic protein (BMP) signaling pathway. The encoded protein is phosphorylated by BMP receptors, which stimulates its binding to SMAD4 and translocation into the nucleus, where it functions as a regulator of transcription. Activity of this protein is important for embryonic development. Mutation of this gene results in defects in pulmonary vasculature. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice in which exon 3 was deleted are viable and fertile. Mutant mice in which a neo cassette is inserted in exon 3 resulting in a hypomorphic allele exhibit reduced midbrain and hindbrain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Becn2	T	C	1: 175,748,197 (GRCm39)	C88R	possibly damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Camk2g	G	A	14: 20,805,775 (GRCm39)		probably benign	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cep135	G	A	5: 76,772,586 (GRCm39)	G657D	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Ephx1	A	G	1: 180,817,498 (GRCm39)	I391T	probably benign	Het
Fcgbp	A	G	7: 27,800,701 (GRCm39)	Y1249C	probably damaging	Het
Gm5592	T	C	7: 40,807,052 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,629 (GRCm39)	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380 (GRCm39)	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,245,857 (GRCm39)	I130F	probably damaging	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,620,103 (GRCm39)	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,072,583 (GRCm39)	H324R	probably damaging	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,086,269 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Or14a259	A	G	7: 86,013,308 (GRCm39)	F79S	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcnt	T	A	10: 76,269,584 (GRCm39)	E228V	probably benign	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,390,265 (GRCm39)	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Thbd	A	G	2: 148,248,893 (GRCm39)	V325A	probably damaging	Het
Trpd52l3	T	A	19: 29,981,333 (GRCm39)	C29*	probably null	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Usp35	T	C	7: 96,961,827 (GRCm39)	H533R	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Zap70	C	T	1: 36,818,216 (GRCm39)	T301I	probably benign	Het
Zfp341	A	G	2: 154,466,801 (GRCm39)	K57E	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zfp786	T	C	6: 47,798,357 (GRCm39)	N194D	probably benign	Het

Other mutations in Smad9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02045:Smad9	APN	3	54,693,593 (GRCm39)	missense	possibly damaging	0.95
IGL02666:Smad9	APN	3	54,689,888 (GRCm39)	missense	probably damaging	1.00
IGL03346:Smad9	APN	3	54,696,636 (GRCm39)	missense	probably benign
Arachnida	UTSW	3	54,696,607 (GRCm39)	missense	probably benign
R1839:Smad9	UTSW	3	54,696,600 (GRCm39)	splice site	probably benign
R1888:Smad9	UTSW	3	54,696,600 (GRCm39)	splice site	probably benign
R3622:Smad9	UTSW	3	54,696,705 (GRCm39)	missense	probably damaging	0.96
R3624:Smad9	UTSW	3	54,696,705 (GRCm39)	missense	probably damaging	0.96
R3708:Smad9	UTSW	3	54,693,602 (GRCm39)	missense	probably benign
R4469:Smad9	UTSW	3	54,690,182 (GRCm39)	missense	probably damaging	1.00
R4756:Smad9	UTSW	3	54,701,874 (GRCm39)	missense	possibly damaging	0.50
R4938:Smad9	UTSW	3	54,696,651 (GRCm39)	missense	probably benign	0.00
R5139:Smad9	UTSW	3	54,704,827 (GRCm39)	missense	possibly damaging	0.94
R5783:Smad9	UTSW	3	54,701,863 (GRCm39)	missense	probably benign	0.15
R6200:Smad9	UTSW	3	54,696,607 (GRCm39)	missense	probably benign
R6437:Smad9	UTSW	3	54,693,505 (GRCm39)	missense	probably benign	0.33
R6478:Smad9	UTSW	3	54,689,864 (GRCm39)	missense	probably damaging	1.00
R6552:Smad9	UTSW	3	54,690,167 (GRCm39)	missense	probably damaging	1.00
R7058:Smad9	UTSW	3	54,693,614 (GRCm39)	missense	probably benign	0.01
R7314:Smad9	UTSW	3	54,696,744 (GRCm39)	missense	probably benign	0.00
R7492:Smad9	UTSW	3	54,693,747 (GRCm39)	splice site	probably null
R7683:Smad9	UTSW	3	54,696,685 (GRCm39)	missense	probably damaging	1.00
R8278:Smad9	UTSW	3	54,696,687 (GRCm39)	missense	probably benign	0.01
R9457:Smad9	UTSW	3	54,696,756 (GRCm39)	missense	possibly damaging	0.78
Z1177:Smad9	UTSW	3	54,693,643 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCTGTTGCAATCGTGAGCTC -3'
(R):5'- AAGGGCTTTCTAAAGGACCGC -3'

Sequencing Primer
(F):5'- TGCAATCGTGAGCTCCGGAG -3'
(R):5'- GGCTTTCTAAAGGACCGCTTATAGC -3'

Posted On

2015-02-19