Mutagenetix > Incidental Mutation

Incidental Mutation 'R6437:Smad9'

518802

Institutional Source

Beutler Lab

Gene Symbol

Smad9

Ensembl Gene

ENSMUSG00000027796

Gene Name

SMAD family member 9

Synonyms

SMAD8B, SMAD8A, Madh9, MADH6

MMRRC Submission

044575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54663003-54708678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54693505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 145 (P145S)

Ref Sequence

ENSEMBL: ENSMUSP00000029371 (fasta)

Gene Model

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

AlphaFold

Q9JIW5

Predicted Effect

probably benign
Transcript: ENSMUST00000029371
AA Change: P145S

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029371
Gene: ENSMUSG00000027796
AA Change: P145S

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

Meta Mutation Damage Score

0.5051

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,582,347 (GRCm39)	V794E	probably damaging	Het
Agrn	C	T	4: 156,261,235 (GRCm39)	V514I	probably damaging	Het
Atg16l1	T	C	1: 87,718,370 (GRCm39)	L545P	probably damaging	Het
Ces3b	T	A	8: 105,819,238 (GRCm39)	D431E	probably damaging	Het
Cracr2a	A	G	6: 127,608,794 (GRCm39)	D291G	probably damaging	Het
Csmd2	T	G	4: 127,881,893 (GRCm39)	C11G	probably benign	Het
Cstdc3	A	G	16: 36,132,999 (GRCm39)	E92G	probably damaging	Het
Dido1	A	G	2: 180,316,806 (GRCm39)	I127T	probably damaging	Het
Dpp8	A	T	9: 64,981,860 (GRCm39)	Y714F	probably benign	Het
Efcab5	G	A	11: 77,028,728 (GRCm39)	A201V	probably benign	Het
Eif3h	C	T	15: 51,662,660 (GRCm39)	V129I	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fars2	G	A	13: 36,388,846 (GRCm39)	V112I	probably benign	Het
Fbn2	T	G	18: 58,246,435 (GRCm39)	D489A	probably damaging	Het
Frmd4b	G	T	6: 97,273,228 (GRCm39)	S675R	probably damaging	Het
Fsip2	C	T	2: 82,813,836 (GRCm39)	S3385F	possibly damaging	Het
Gtpbp10	A	G	5: 5,607,406 (GRCm39)	Y12H	probably damaging	Het
Kcng3	A	G	17: 83,938,558 (GRCm39)	S164P	probably damaging	Het
Kifap3	T	A	1: 163,685,095 (GRCm39)	L483Q	probably damaging	Het
Klk10	A	G	7: 43,432,241 (GRCm39)	H58R	probably benign	Het
Kntc1	T	G	5: 123,907,754 (GRCm39)	W452G	probably damaging	Het
Krt87	C	T	15: 101,336,273 (GRCm39)	D127N	possibly damaging	Het
Ldaf1	A	T	7: 119,715,584 (GRCm39)		probably null	Het
Lipm	A	G	19: 34,098,657 (GRCm39)	Y377C	probably damaging	Het
Mrc2	G	A	11: 105,240,669 (GRCm39)	R1453H	probably damaging	Het
Nat1	T	C	8: 67,944,388 (GRCm39)	F255L	possibly damaging	Het
Neb	C	T	2: 52,147,569 (GRCm39)		probably null	Het
Nek5	T	A	8: 22,575,476 (GRCm39)	D491V	possibly damaging	Het
Nynrin	T	C	14: 56,109,227 (GRCm39)	S1445P	probably benign	Het
Oog2	T	A	4: 143,921,678 (GRCm39)		probably null	Het
Or2j6	C	T	7: 139,980,434 (GRCm39)	C175Y	probably damaging	Het
Pafah1b1	T	C	11: 74,568,557 (GRCm39)	T391A	probably benign	Het
Pcdhb7	T	C	18: 37,475,743 (GRCm39)	L293P	probably damaging	Het
Plce1	A	T	19: 38,513,576 (GRCm39)	T292S	probably benign	Het
Pold1	G	A	7: 44,188,202 (GRCm39)	R559C	probably damaging	Het
Rfx7	A	G	9: 72,525,768 (GRCm39)	Q986R	possibly damaging	Het
Rrp9	G	T	9: 106,360,150 (GRCm39)	R186L	probably benign	Het
Samm50	T	A	15: 84,088,298 (GRCm39)		probably null	Het
Scoc	T	C	8: 84,164,616 (GRCm39)	D7G	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snrk	A	G	9: 121,995,879 (GRCm39)	R553G	probably damaging	Het
Srcap	T	A	7: 127,127,722 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,037,188 (GRCm39)	V3789E	possibly damaging	Het
Thsd7b	T	C	1: 129,744,419 (GRCm39)	I769T	probably damaging	Het
Ttc7	A	G	17: 87,637,534 (GRCm39)	K430E	probably damaging	Het
Ubr4	T	A	4: 139,124,525 (GRCm39)		probably null	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r37	G	T	7: 9,220,850 (GRCm39)	Q338K	probably damaging	Het
Yod1	T	C	1: 130,646,885 (GRCm39)	V254A	probably damaging	Het
Zfpm2	T	C	15: 40,962,793 (GRCm39)	S152P	probably benign	Het
Zmym2	T	A	14: 57,140,461 (GRCm39)	L100H	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
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'- ACATTTGGAACCAACCTCTTTTGTC -3'
(R):5'- CATGGAGACTGCGGAAACAC -3'

Sequencing Primer
(F):5'- AGACAGGGCTTCTCTGTGTACC -3'
(R):5'- TGCGGAAACACATGGCCTG -3'

Posted On

2018-05-24