Mutagenetix > Incidental Mutation

Incidental Mutation 'R0400:Smad1'

38135

Institutional Source

Beutler Lab

Gene Symbol

Smad1

Ensembl Gene

ENSMUSG00000031681

Gene Name

SMAD family member 1

Synonyms

Madr1, Madh1, Smad 1

MMRRC Submission

038605-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80065024-80126057 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 80098399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066091] [ENSMUST00000109885]

AlphaFold

P70340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000066081

SMART Domains

Protein: ENSMUSP00000064015
Gene: ENSMUSG00000031681

Domain	Start	End	E-Value	Type
DWA	25	134	6.94e-68	SMART
low complexity region	179	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066091

SMART Domains

Protein: ENSMUSP00000071035
Gene: ENSMUSG00000031681

Domain	Start	End	E-Value	Type
DWA	25	134	6.94e-68	SMART
low complexity region	179	212	N/A	INTRINSIC
low complexity region	219	233	N/A	INTRINSIC
DWB	269	441	2.73e-107	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109885

SMART Domains

Protein: ENSMUSP00000105511
Gene: ENSMUSG00000031681

Domain	Start	End	E-Value	Type
DWA	25	134	6.94e-68	SMART
low complexity region	179	212	N/A	INTRINSIC
low complexity region	219	233	N/A	INTRINSIC
DWB	269	425	3.92e-76	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired allantois formation resulting in the lack of a placenta, and die around embryonic day 9-10. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	T	A	11: 30,376,360 (GRCm39)	H169L	probably benign	Het
9130230L23Rik	T	C	5: 66,147,699 (GRCm39)	D28G	unknown	Het
Abca12	T	A	1: 71,298,935 (GRCm39)		probably benign	Het
Acsl5	T	C	19: 55,282,143 (GRCm39)	V573A	probably damaging	Het
Agap1	A	G	1: 89,770,972 (GRCm39)		probably benign	Het
Arid2	A	G	15: 96,254,806 (GRCm39)		probably benign	Het
B430305J03Rik	T	A	3: 61,271,556 (GRCm39)		probably benign	Het
Brsk2	T	C	7: 141,552,290 (GRCm39)	L584P	probably damaging	Het
C2cd4c	A	G	10: 79,449,043 (GRCm39)	Y35H	probably damaging	Het
Cacul1	A	G	19: 60,551,591 (GRCm39)		probably benign	Het
Cers3	T	C	7: 66,414,078 (GRCm39)	V88A	probably benign	Het
Cnnm1	A	T	19: 43,456,803 (GRCm39)	H614L	probably damaging	Het
Col1a1	T	A	11: 94,832,195 (GRCm39)		probably benign	Het
Cyp1b1	T	A	17: 80,021,016 (GRCm39)	D242V	probably damaging	Het
Cyp4a31	T	C	4: 115,420,915 (GRCm39)	M1T	probably null	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dclk2	A	T	3: 86,721,054 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,972,904 (GRCm39)	S2010P	probably damaging	Het
Dram2	T	C	3: 106,480,934 (GRCm39)	L246P	probably damaging	Het
Dus2	A	T	8: 106,775,309 (GRCm39)	T279S	probably benign	Het
Epn2	T	C	11: 61,423,522 (GRCm39)		probably null	Het
Esco2	C	A	14: 66,069,155 (GRCm39)	V52F	possibly damaging	Het
Fbp1	T	A	13: 63,012,882 (GRCm39)	T104S	probably benign	Het
Foxj2	A	T	6: 122,810,767 (GRCm39)	Q249L	possibly damaging	Het
Galnt7	T	C	8: 58,037,023 (GRCm39)	Y122C	probably damaging	Het
Gimd1	T	C	3: 132,340,588 (GRCm39)	Y35H	probably benign	Het
Gipc2	A	G	3: 151,871,305 (GRCm39)	F74L	probably damaging	Het
Glt1d1	T	A	5: 127,734,139 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,290,141 (GRCm39)	T2325A	probably damaging	Het
Iffo1	A	G	6: 125,130,434 (GRCm39)	K471R	probably damaging	Het
Ireb2	G	A	9: 54,803,782 (GRCm39)	R491H	probably benign	Het
Isg20	A	G	7: 78,566,473 (GRCm39)	N141D	possibly damaging	Het
Kmt5c	G	A	7: 4,749,243 (GRCm39)	R100H	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrn4	A	C	2: 132,719,940 (GRCm39)	F287V	probably benign	Het
Maco1	T	C	4: 134,555,427 (GRCm39)	K349E	probably benign	Het
Mmrn1	A	C	6: 60,954,099 (GRCm39)	K793N	probably benign	Het
Muc16	A	G	9: 18,421,830 (GRCm39)	V8227A	possibly damaging	Het
Myh2	C	T	11: 67,083,424 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,528,372 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,951,373 (GRCm39)	V400A	probably damaging	Het
Nxph4	T	A	10: 127,362,127 (GRCm39)	T255S	possibly damaging	Het
Olfm5	G	A	7: 103,803,386 (GRCm39)	T359I	probably damaging	Het
Or1e33	T	C	11: 73,738,867 (GRCm39)	Y28C	probably benign	Het
Or5t18	A	G	2: 86,636,995 (GRCm39)	M116T	probably damaging	Het
Or8b44	A	G	9: 38,410,207 (GRCm39)	M81V	possibly damaging	Het
Or8g21	G	T	9: 38,906,494 (GRCm39)	P79Q	probably damaging	Het
Pak5	T	C	2: 135,939,499 (GRCm39)	I545M	possibly damaging	Het
Pcdhb15	T	C	18: 37,608,948 (GRCm39)	F727L	probably benign	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Phlpp1	T	A	1: 106,320,664 (GRCm39)	I1553N	probably benign	Het
Pink1	T	C	4: 138,045,229 (GRCm39)	T282A	probably damaging	Het
Prdm2	A	G	4: 142,838,240 (GRCm39)	F1706S	probably benign	Het
Pycr1	G	A	11: 120,532,352 (GRCm39)		probably benign	Het
Rigi	A	G	4: 40,235,257 (GRCm39)	Y78H	probably benign	Het
Skint9	A	G	4: 112,271,198 (GRCm39)	S71P	probably damaging	Het
Snapc5	A	T	9: 64,087,789 (GRCm39)	E33D	probably damaging	Het
Snrnp40	T	C	4: 130,256,443 (GRCm39)	L56P	probably damaging	Het
Stab2	A	C	10: 86,708,474 (GRCm39)	I1697S	probably damaging	Het
Tfap2a	G	T	13: 40,870,888 (GRCm39)		probably benign	Het
Tph2	A	G	10: 114,916,025 (GRCm39)		probably benign	Het
Triml1	A	G	8: 43,594,077 (GRCm39)	V118A	probably benign	Het
Ttbk2	T	A	2: 120,580,723 (GRCm39)	T538S	probably benign	Het
Ttn	A	G	2: 76,545,616 (GRCm39)	V32569A	possibly damaging	Het
U2af1	T	A	17: 31,867,166 (GRCm39)	Y158F	probably benign	Het
Usp7	A	T	16: 8,534,496 (GRCm39)		probably benign	Het
Vdr	A	G	15: 97,767,232 (GRCm39)	S179P	probably benign	Het
Vps13d	A	C	4: 144,792,397 (GRCm39)	S663A	probably benign	Het
Wdr62	T	A	7: 29,940,887 (GRCm39)	T844S	possibly damaging	Het
Wipi1	C	T	11: 109,467,956 (GRCm39)	R407Q	probably damaging	Het
Zbtb43	A	G	2: 33,343,909 (GRCm39)	C439R	probably damaging	Het
Zfp507	T	A	7: 35,491,171 (GRCm39)	H704L	probably damaging	Het
Zzef1	G	A	11: 72,786,068 (GRCm39)	R2080K	probably damaging	Het

Other mutations in Smad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Smad1	APN	8	80,083,098 (GRCm39)	missense	probably damaging	0.97
IGL01792:Smad1	APN	8	80,098,752 (GRCm39)	missense	probably damaging	1.00
R0395:Smad1	UTSW	8	80,076,411 (GRCm39)	missense	probably benign	0.01
R0990:Smad1	UTSW	8	80,070,417 (GRCm39)	missense	probably damaging	1.00
R1371:Smad1	UTSW	8	80,076,207 (GRCm39)	splice site	probably benign
R1481:Smad1	UTSW	8	80,070,359 (GRCm39)	missense	probably benign	0.20
R1661:Smad1	UTSW	8	80,098,658 (GRCm39)	missense	probably damaging	1.00
R1665:Smad1	UTSW	8	80,098,658 (GRCm39)	missense	probably damaging	1.00
R1797:Smad1	UTSW	8	80,070,473 (GRCm39)	missense	probably damaging	1.00
R2879:Smad1	UTSW	8	80,080,084 (GRCm39)	splice site	probably null
R3624:Smad1	UTSW	8	80,066,327 (GRCm39)	missense	probably benign	0.31
R3791:Smad1	UTSW	8	80,066,399 (GRCm39)	missense	probably damaging	1.00
R3815:Smad1	UTSW	8	80,070,359 (GRCm39)	missense	probably benign	0.20
R3819:Smad1	UTSW	8	80,070,359 (GRCm39)	missense	probably benign	0.20
R4887:Smad1	UTSW	8	80,076,381 (GRCm39)	missense	probably damaging	1.00
R5438:Smad1	UTSW	8	80,082,949 (GRCm39)	missense	probably benign	0.19
R8836:Smad1	UTSW	8	80,098,554 (GRCm39)	missense	probably damaging	1.00
R9308:Smad1	UTSW	8	80,098,899 (GRCm39)	start gained	probably benign
X0064:Smad1	UTSW	8	80,080,033 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCTGAAGGCTTGTCCCCAAAG -3'
(R):5'- GAGTAACTGCGTCACCATTCCTCG -3'

Sequencing Primer
(F):5'- accccaggatgccagag -3'
(R):5'- AGGTTGCAGGTGTCCCAC -3'

Posted On

2013-05-23