Mutagenetix > Incidental Mutation

Incidental Mutation 'R7314:Smad9'

567815

Institutional Source

Beutler Lab

Gene Symbol

Smad9

Ensembl Gene

ENSMUSG00000027796

Gene Name

SMAD family member 9

Synonyms

SMAD8B, SMAD8A, Madh9, MADH6

MMRRC Submission

045412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54663003-54708678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54696744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 270 (N270D)

Ref Sequence

ENSEMBL: ENSMUSP00000029371 (fasta)

Gene Model

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

AlphaFold

Q9JIW5

Predicted Effect

probably benign
Transcript: ENSMUST00000029371
AA Change: N270D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029371
Gene: ENSMUSG00000027796
AA Change: N270D

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

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	G	A	7: 29,989,320 (GRCm39)	V177I	unknown	Het
4930596D02Rik	A	G	14: 35,533,606 (GRCm39)	V54A	probably benign	Het
Abcc10	C	A	17: 46,626,330 (GRCm39)	A704S	probably damaging	Het
Adss2	A	G	1: 177,595,317 (GRCm39)	W408R	probably damaging	Het
Aplp1	T	C	7: 30,135,414 (GRCm39)	E548G	probably damaging	Het
C4b	C	T	17: 34,959,330 (GRCm39)	V415I	probably benign	Het
Celsr3	T	C	9: 108,706,343 (GRCm39)	V942A	probably damaging	Het
Cstf1	A	G	2: 172,214,954 (GRCm39)	D25G	probably damaging	Het
Dnah14	A	T	1: 181,612,819 (GRCm39)		probably null	Het
Dnah9	G	A	11: 65,880,677 (GRCm39)	T2640I	probably benign	Het
Dnase2b	T	C	3: 146,288,151 (GRCm39)	I315V	probably damaging	Het
Endod1	T	C	9: 14,268,295 (GRCm39)	S397G	probably benign	Het
Eps8	A	G	6: 137,504,090 (GRCm39)	V171A	possibly damaging	Het
Ghdc	T	C	11: 100,659,928 (GRCm39)	E273G	probably damaging	Het
Hmgn2-ps	C	T	8: 73,058,839 (GRCm39)	G63R	probably damaging	Het
Hspbap1	T	A	16: 35,645,541 (GRCm39)	S409T	probably benign	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Jph4	TCCATTCTCGTATACCCCA	TCCA	14: 55,347,196 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,775,755 (GRCm39)	Y268H	probably damaging	Het
Krt16	T	C	11: 100,138,695 (GRCm39)	D197G	probably damaging	Het
Lca5	T	C	9: 83,277,563 (GRCm39)	K594E	possibly damaging	Het
Lgi3	T	C	14: 70,769,552 (GRCm39)	F84S	probably damaging	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Map3k7	G	T	4: 31,985,769 (GRCm39)	E231*	probably null	Het
Nrip1	A	G	16: 76,088,078 (GRCm39)	S1160P	probably benign	Het
Oas1g	A	T	5: 121,016,526 (GRCm39)	L301Q	probably damaging	Het
Obox3	T	A	7: 15,361,079 (GRCm39)	Q62L	possibly damaging	Het
Or5d37	A	G	2: 87,923,458 (GRCm39)	L274P	probably benign	Het
Or6b13	A	T	7: 139,782,326 (GRCm39)	V119D	probably damaging	Het
Parp8	G	T	13: 117,004,996 (GRCm39)	F727L	probably benign	Het
Pcdha1	T	C	18: 37,064,553 (GRCm39)	Y406H	probably damaging	Het
Pcdhgb8	A	G	18: 37,896,052 (GRCm39)	D374G	probably damaging	Het
Pdzd8	A	T	19: 59,289,783 (GRCm39)	L539*	probably null	Het
Phkb	A	G	8: 86,669,021 (GRCm39)		probably null	Het
Ppp1r13b	T	C	12: 111,812,790 (GRCm39)	E143G	probably damaging	Het
Rpap2	T	C	5: 107,768,245 (GRCm39)	V361A	probably damaging	Het
Setd4	T	C	16: 93,384,711 (GRCm39)	T326A	probably benign	Het
Sntg2	A	G	12: 30,317,107 (GRCm39)	S172P	probably benign	Het
Tecpr1	A	G	5: 144,154,150 (GRCm39)	L101P	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,671,912 (GRCm39)	T427A	possibly damaging	Het
Trhr2	A	G	8: 123,085,489 (GRCm39)	V165A	possibly damaging	Het
Ubr3	T	A	2: 69,821,944 (GRCm39)	L1402Q	probably damaging	Het
Vps13c	T	A	9: 67,850,622 (GRCm39)		probably null	Het
Zfp369	T	C	13: 65,439,918 (GRCm39)	S201P	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
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'- CTTCCTGTTGCAATCGTGAGC -3'
(R):5'- AGGGCTTTCTAAAGGACCGC -3'

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

Posted On

2019-06-26