Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Smad9'

714631

Institutional Source

Beutler Lab

Gene Symbol

Smad9

Ensembl Gene

ENSMUSG00000027796

Gene Name

SMAD family member 9

Synonyms

SMAD8B, SMAD8A, Madh9, MADH6

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54663003-54708678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54696756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 274 (F274I)

Ref Sequence

ENSEMBL: ENSMUSP00000029371 (fasta)

Gene Model

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

AlphaFold

Q9JIW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029371
AA Change: F274I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029371
Gene: ENSMUSG00000027796
AA Change: F274I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	T	C	10: 115,414,236 (GRCm39)	L54P	unknown	Het
Ablim3	A	G	18: 61,978,920 (GRCm39)	S204P	probably benign	Het
Acadl	A	G	1: 66,892,400 (GRCm39)	V141A	probably benign	Het
Ace3	A	G	11: 105,885,687 (GRCm39)	D31G	probably benign	Het
Acte1	T	C	7: 143,437,713 (GRCm39)	V137A	possibly damaging	Het
Adam11	T	G	11: 102,660,724 (GRCm39)	V85G	probably benign	Het
Adarb1	A	T	10: 77,157,982 (GRCm39)	M155K	possibly damaging	Het
Arhgap10	G	A	8: 78,111,415 (GRCm39)	T376M	probably benign	Het
Bod1l	G	T	5: 41,979,310 (GRCm39)	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,891,659 (GRCm39)	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329 (GRCm39)	I37N	probably damaging	Het
Cfap99	T	G	5: 34,458,741 (GRCm39)	F45L	probably benign	Het
Chsy1	C	A	7: 65,822,148 (GRCm39)	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,931,045 (GRCm39)	V45I	probably benign	Het
Clic3	G	A	2: 25,347,730 (GRCm39)	V32I	probably benign	Het
Clip2	A	T	5: 134,531,584 (GRCm39)	D740E	probably benign	Het
Col5a2	C	T	1: 45,426,004 (GRCm39)	V1062I	probably benign	Het
Col5a2	A	G	1: 45,431,973 (GRCm39)		probably null	Het
Cyp2j11	C	T	4: 96,195,596 (GRCm39)	V367I	probably damaging	Het
Ddr1	C	T	17: 35,993,650 (GRCm39)	A821T	possibly damaging	Het
Dna2	G	A	10: 62,786,572 (GRCm39)	E107K	probably benign	Het
Eif3d	A	G	15: 77,843,894 (GRCm39)	V484A	probably benign	Het
Fgfr4	A	G	13: 55,308,940 (GRCm39)	T354A	probably benign	Het
Fkbp6	T	C	5: 135,378,486 (GRCm39)	D54G	probably benign	Het
Gm4787	T	A	12: 81,426,020 (GRCm39)	E46V	probably damaging	Het
Gm47995	A	G	1: 151,074,226 (GRCm39)	T10A	possibly damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Gphb5	A	T	12: 75,462,523 (GRCm39)	V22D	probably damaging	Het
Gstt4	C	T	10: 75,650,959 (GRCm39)	C221Y	probably benign	Het
Hmces	T	C	6: 87,910,256 (GRCm39)	V222A	possibly damaging	Het
Kat14	T	A	2: 144,215,702 (GRCm39)	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,236,018 (GRCm39)	V89E	probably benign	Het
Kif23	T	A	9: 61,851,507 (GRCm39)	N63I	probably benign	Het
Lamc2	T	C	1: 153,015,600 (GRCm39)	M578V	probably benign	Het
Ltbp2	A	T	12: 84,835,927 (GRCm39)	C1335S	probably benign	Het
Lyst	A	G	13: 13,862,330 (GRCm39)	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,532,793 (GRCm39)	H47L	probably benign	Het
Mical2	A	G	7: 112,010,665 (GRCm39)	K618R	probably damaging	Het
Mllt6	T	C	11: 97,556,586 (GRCm39)	I92T	probably benign	Het
Morc2a	A	G	11: 3,626,184 (GRCm39)	I223V	probably benign	Het
Msh3	A	T	13: 92,481,594 (GRCm39)	I306N	probably benign	Het
Myo3b	T	A	2: 69,925,553 (GRCm39)	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Oit3	T	A	10: 59,277,505 (GRCm39)	M1L	unknown	Het
Or4c1	A	T	2: 89,133,075 (GRCm39)	I287N	probably damaging	Het
Or51l14	T	A	7: 103,100,618 (GRCm39)	F25I	probably benign	Het
Or8k17	A	T	2: 86,066,816 (GRCm39)	I114K	probably damaging	Het
Peg3	T	G	7: 6,710,998 (GRCm39)	D1408A	probably damaging	Het
Plaa	A	C	4: 94,475,120 (GRCm39)	S201R	possibly damaging	Het
Potefam1	A	T	2: 111,000,631 (GRCm39)	M196K	unknown	Het
Psmd5	A	G	2: 34,744,338 (GRCm39)	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,176,474 (GRCm39)	I1701V	probably damaging	Het
Rmc1	A	G	18: 12,312,303 (GRCm39)	H181R	probably benign	Het
Rnf32	G	A	5: 29,411,184 (GRCm39)	A157T	probably damaging	Het
Rrad	T	A	8: 105,356,359 (GRCm39)		probably null	Het
Samm50	T	A	15: 84,092,042 (GRCm39)	L339Q	probably damaging	Het
Scin	T	C	12: 40,154,957 (GRCm39)	E212G	possibly damaging	Het
Scrib	T	C	15: 75,939,148 (GRCm39)	D146G	probably damaging	Het
Slc19a1	G	A	10: 76,885,605 (GRCm39)	D502N	probably benign	Het
Slc4a4	T	C	5: 89,362,432 (GRCm39)	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,704,141 (GRCm39)	D764G	probably damaging	Het
Slc6a19	G	A	13: 73,829,884 (GRCm39)	A590V	probably damaging	Het
Slfn8	G	T	11: 82,908,532 (GRCm39)	H4N	probably benign	Het
Snx4	A	G	16: 33,106,380 (GRCm39)	E271G	probably benign	Het
Spata31h1	A	G	10: 82,122,573 (GRCm39)	V3479A	probably benign	Het
Tektip1	C	A	10: 81,201,611 (GRCm39)	V4L	probably benign	Het
Thap4	G	A	1: 93,678,028 (GRCm39)	R253*	probably null	Het
Tmem65	T	A	15: 58,662,028 (GRCm39)	I144F		Het
Tnrc6a	G	A	7: 122,778,958 (GRCm39)	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,747,226 (GRCm39)	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,763,478 (GRCm39)	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,001,508 (GRCm39)	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,693,469 (GRCm39)	E273V	probably damaging	Het
Vps52	A	G	17: 34,181,156 (GRCm39)	D466G	probably damaging	Het
Xirp2	T	C	2: 67,345,976 (GRCm39)	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,168,675 (GRCm39)	S1003F	unknown	Het
Zyg11a	A	T	4: 108,075,102 (GRCm39)	H6Q	probably damaging	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
R3623: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
Z1177:Smad9	UTSW	3	54,693,643 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGTTGCAATCGTGAGCTCC -3'
(R):5'- CCTAAGGGCTTTCTAAAGGACC -3'

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

Posted On

2022-06-15