Mutagenetix > Incidental Mutation

Incidental Mutation 'R7683:Smad9'

592859

Institutional Source

Beutler Lab

Gene Symbol

Smad9

Ensembl Gene

ENSMUSG00000027796

Gene Name

SMAD family member 9

Synonyms

SMAD8B, SMAD8A, Madh9, MADH6

MMRRC Submission

045749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7683 (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 54696685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 250 (E250G)

Ref Sequence

ENSEMBL: ENSMUSP00000029371 (fasta)

Gene Model

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

AlphaFold

Q9JIW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029371
AA Change: E250G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029371
Gene: ENSMUSG00000027796
AA Change: E250G

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: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	A	G	13: 59,660,312 (GRCm39)	C305R	probably damaging	Het
Anpep	C	A	7: 79,488,946 (GRCm39)	V381L	probably damaging	Het
Ap5s1	T	C	2: 131,054,627 (GRCm39)	L146P	probably damaging	Het
Arhgef11	A	G	3: 87,629,690 (GRCm39)	I599V	probably damaging	Het
Arpc2	T	C	1: 74,302,973 (GRCm39)	Y250H	probably damaging	Het
Baz1b	T	A	5: 135,246,582 (GRCm39)	M677K	probably damaging	Het
Begain	C	T	12: 108,999,413 (GRCm39)	A453T	unknown	Het
C1ql4	T	C	15: 98,985,092 (GRCm39)	D173G	probably benign	Het
Card11	T	G	5: 140,881,781 (GRCm39)	N461T	probably benign	Het
Ccdc9	T	C	7: 16,018,287 (GRCm39)	D7G	probably damaging	Het
Ces2a	T	C	8: 105,463,744 (GRCm39)	V152A	probably benign	Het
Chl1	G	A	6: 103,668,613 (GRCm39)	A449T	possibly damaging	Het
Col11a1	G	T	3: 113,907,385 (GRCm39)	G638W	unknown	Het
Cse1l	A	T	2: 166,764,708 (GRCm39)	T171S	probably benign	Het
D2hgdh	T	A	1: 93,766,687 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,930,680 (GRCm39)	Y432H	possibly damaging	Het
Dmwd	C	T	7: 18,814,660 (GRCm39)	L437F	probably damaging	Het
F11	T	A	8: 45,702,545 (GRCm39)	Q251L	probably damaging	Het
Gtf2f1	T	A	17: 57,312,458 (GRCm39)	E195V	possibly damaging	Het
Hap1	A	T	11: 100,242,374 (GRCm39)	L376Q	probably damaging	Het
Hars2	T	A	18: 36,921,289 (GRCm39)	I234N	probably damaging	Het
Hcfc2	T	C	10: 82,535,063 (GRCm39)	V29A	probably benign	Het
Hp	C	T	8: 110,305,731 (GRCm39)		probably benign	Het
Hrh1	T	C	6: 114,456,748 (GRCm39)	S10P	probably benign	Het
Kcnmb2	A	G	3: 32,252,465 (GRCm39)	Y222C	probably damaging	Het
Kdm3a	A	G	6: 71,576,438 (GRCm39)	V792A	probably benign	Het
Kif13b	G	A	14: 64,994,956 (GRCm39)	V903I	probably benign	Het
Lars2	G	T	9: 123,206,895 (GRCm39)		probably null	Het
Med7	A	G	11: 46,331,687 (GRCm39)	D94G	possibly damaging	Het
Mier3	A	G	13: 111,841,846 (GRCm39)	T136A	probably benign	Het
Nin	T	C	12: 70,124,956 (GRCm39)	E122G		Het
Or5h18	G	T	16: 58,847,469 (GRCm39)	T267K	probably benign	Het
Or6k14	A	G	1: 173,927,042 (GRCm39)	Q6R	probably benign	Het
Oxsr1	T	C	9: 119,070,821 (GRCm39)	I489V	probably benign	Het
Pdcd6ip	A	T	9: 113,516,763 (GRCm39)	L216Q	probably damaging	Het
Ppp4r4	T	A	12: 103,553,364 (GRCm39)	C379*	probably null	Het
Pramel24	A	T	4: 143,453,284 (GRCm39)	K131*	probably null	Het
Ptpn13	T	A	5: 103,713,018 (GRCm39)	C1714S	probably benign	Het
Pum2	G	A	12: 8,778,922 (GRCm39)	R498Q	possibly damaging	Het
Sema3d	T	A	5: 12,623,823 (GRCm39)	Y577*	probably null	Het
Slc29a3	G	A	10: 60,552,145 (GRCm39)	P300S	not run	Het
Slc5a4b	A	G	10: 75,899,906 (GRCm39)	V444A	probably damaging	Het
Srsf7	A	G	17: 80,514,703 (GRCm39)		probably benign	Het
Thsd7b	A	G	1: 129,523,683 (GRCm39)	Y239C	probably damaging	Het
Triml2	C	A	8: 43,638,325 (GRCm39)	Q98K	probably damaging	Het
Txndc11	A	T	16: 10,902,099 (GRCm39)	L705Q	probably damaging	Het
Vmn1r22	A	G	6: 57,877,404 (GRCm39)	M191T	probably damaging	Het
Vmn2r89	A	T	14: 51,692,651 (GRCm39)	K151N	probably benign	Het
Vwa5a	A	G	9: 38,646,125 (GRCm39)	I498V	probably damaging	Het
Zfp459	T	C	13: 67,556,615 (GRCm39)	H156R	probably damaging	Het
Zscan18	T	A	7: 12,503,532 (GRCm39)	K676*	probably null	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
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'- GGTCCTACAGTTCTCATTCTGG -3'
(R):5'- ACCACTGTAGCAGGCTTCTTG -3'

Sequencing Primer
(F):5'- GTTTAAAGCGGTCACCTGC -3'
(R):5'- CAGGCTTCTTGGAGCTCAGAAG -3'

Posted On

2019-11-12