Mutagenetix > Incidental Mutation

Incidental Mutation 'R6552:Smad9'

521668

Institutional Source

Beutler Lab

Gene Symbol

Smad9

Ensembl Gene

ENSMUSG00000027796

Gene Name

SMAD family member 9

Synonyms

SMAD8B, SMAD8A, Madh9, MADH6

MMRRC Submission

044677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54663003-54708678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54690167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 129 (Y129C)

Ref Sequence

ENSEMBL: ENSMUSP00000029371 (fasta)

Gene Model

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

AlphaFold

Q9JIW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029371
AA Change: Y129C

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

SMART Domains

Protein: ENSMUSP00000029371
Gene: ENSMUSG00000027796
AA Change: Y129C

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: 99.4%
20x: 98.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang5	A	T	14: 44,200,254 (GRCm39)	H106L	probably benign	Het
Arsk	A	G	13: 76,220,315 (GRCm39)	Y260H	probably damaging	Het
Atxn2l	C	T	7: 126,092,993 (GRCm39)	V833M	possibly damaging	Het
Bpifa6	G	A	2: 153,829,078 (GRCm39)	D202N	probably damaging	Het
Ccdc103	A	G	11: 102,774,970 (GRCm39)	S190G	probably benign	Het
Col6a6	C	T	9: 105,576,112 (GRCm39)	V2083I	probably damaging	Het
Creb5	A	G	6: 53,662,369 (GRCm39)	D222G	probably damaging	Het
Cyp7a1	C	T	4: 6,272,361 (GRCm39)	W284*	probably null	Het
Dnmt3a	T	C	12: 3,957,623 (GRCm39)	V868A	probably damaging	Het
Efr3a	A	G	15: 65,729,339 (GRCm39)	D680G	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l4a	A	G	18: 34,012,032 (GRCm39)	Y163H	probably damaging	Het
Gabra1	A	T	11: 42,037,926 (GRCm39)	S231T	probably damaging	Het
Golga4	T	A	9: 118,343,299 (GRCm39)	F42I	probably damaging	Het
Greb1l	G	A	18: 10,541,814 (GRCm39)	S1187N	probably benign	Het
Haspin	A	G	11: 73,028,390 (GRCm39)	V233A	probably benign	Het
Il34	T	A	8: 111,469,059 (GRCm39)	K187I	probably benign	Het
Kcnn2	A	G	18: 45,693,165 (GRCm39)	H247R	probably benign	Het
Klf5	T	C	14: 99,539,078 (GRCm39)	S84P	probably benign	Het
Lama5	G	T	2: 179,822,947 (GRCm39)	P2773Q	probably damaging	Het
Lcat	T	C	8: 106,666,311 (GRCm39)	M404V	possibly damaging	Het
Lrp6	A	T	6: 134,431,692 (GRCm39)	S1473T	probably benign	Het
Lsm3	GATATATA	GATATATATA	6: 91,496,617 (GRCm39)		probably null	Het
Mn1	T	C	5: 111,568,753 (GRCm39)	S908P	possibly damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2ag13	TGAAGCC	T	7: 106,313,850 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,429,046 (GRCm39)	M340L	probably benign	Het
Pex1	G	A	5: 3,673,953 (GRCm39)	E748K	probably damaging	Het
Qrich1	T	C	9: 108,411,504 (GRCm39)	V343A	possibly damaging	Het
Rho	A	G	6: 115,908,709 (GRCm39)		probably null	Het
Sdhaf4	C	A	1: 24,044,687 (GRCm39)		probably benign	Het
Sec24d	A	G	3: 123,084,201 (GRCm39)	I127V	probably benign	Het
Siae	T	C	9: 37,557,696 (GRCm39)	V501A	possibly damaging	Het
Skint3	T	C	4: 112,147,482 (GRCm39)	Y402H	possibly damaging	Het
Skint6	A	C	4: 112,924,687 (GRCm39)	V515G	possibly damaging	Het
Slc23a1	C	A	18: 35,755,391 (GRCm39)	G475C	probably damaging	Het
Snw1	A	G	12: 87,506,189 (GRCm39)		probably null	Het
Spice1	A	G	16: 44,199,396 (GRCm39)	D616G	possibly damaging	Het
Stam2	T	C	2: 52,598,239 (GRCm39)		probably null	Het
Sumo3	G	T	10: 77,442,091 (GRCm39)		probably benign	Het
Syne2	T	G	12: 75,937,015 (GRCm39)	N204K	possibly damaging	Het
Tmem200a	T	C	10: 25,869,381 (GRCm39)	N296S	probably damaging	Het
Ttbk1	G	T	17: 46,789,888 (GRCm39)	T125N	probably benign	Het
Ubr2	G	T	17: 47,277,194 (GRCm39)		probably null	Het
Vmn1r80	C	T	7: 11,927,684 (GRCm39)	L265F	probably damaging	Het
Vwa8	A	T	14: 79,435,662 (GRCm39)	T1791S	possibly 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
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'- CAAGTGTGTCACCATCCCAC -3'
(R):5'- AACCTTGCAAGCCTTTCGTATAAG -3'

Sequencing Primer
(F):5'- ATCCCACGGTCCCTCGATG -3'
(R):5'- TCATGATTCTCTGAGTGCACAG -3'

Posted On

2018-06-06