Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Smad1'

164375

Institutional Source

Beutler Lab

Gene Symbol

Smad1

Ensembl Gene

ENSMUSG00000031681

Gene Name

SMAD family member 1

Synonyms

Madr1, Madh1, Smad 1

MMRRC Submission

039534-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80065024-80126057 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80070359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 393 (A393V)

Ref Sequence

ENSEMBL: ENSMUSP00000105511 (fasta)

Gene Model

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

AlphaFold

P70340

Predicted Effect

probably benign
Transcript: ENSMUST00000066091
AA Change: A393V

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071035
Gene: ENSMUSG00000031681
AA Change: A393V

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
AA Change: A393V

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105511
Gene: ENSMUSG00000031681
AA Change: A393V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210678

Meta Mutation Damage Score

0.0871

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef5	A	G	6: 43,251,568 (GRCm39)	H773R	probably damaging	Het
Bltp1	T	C	3: 37,062,583 (GRCm39)	V3365A	probably damaging	Het
Bmp3	G	A	5: 99,020,329 (GRCm39)	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,148,722 (GRCm39)		probably benign	Het
Ccdc178	C	T	18: 22,238,678 (GRCm39)	G313D	probably benign	Het
Cd300ld2	T	A	11: 114,903,459 (GRCm39)	I129F	probably benign	Het
Cep170	T	C	1: 176,609,951 (GRCm39)	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,637,696 (GRCm39)	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,045,393 (GRCm39)	N336K	probably damaging	Het
Coil	T	A	11: 88,864,886 (GRCm39)	C38S	possibly damaging	Het
Cps1	T	C	1: 67,183,041 (GRCm39)	V133A	probably damaging	Het
Cspg4	A	G	9: 56,795,094 (GRCm39)	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,036,032 (GRCm39)	D293N	probably benign	Het
Cyp2f2	T	C	7: 26,821,302 (GRCm39)	S72P	probably benign	Het
Dip2c	G	A	13: 9,601,902 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,731,918 (GRCm39)	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,583,941 (GRCm39)	V469I	probably benign	Het
Efcab14	A	G	4: 115,613,714 (GRCm39)	T221A	probably benign	Het
Ehbp1	T	C	11: 21,956,782 (GRCm39)	*1207W	probably null	Het
Eln	T	C	5: 134,735,426 (GRCm39)	K786E	probably damaging	Het
Fyb1	C	T	15: 6,649,128 (GRCm39)	P385S	probably benign	Het
Galr1	A	G	18: 82,423,866 (GRCm39)	I137T	possibly damaging	Het
Gcm1	A	T	9: 77,966,999 (GRCm39)	K73*	probably null	Het
Gemin5	T	C	11: 58,032,480 (GRCm39)	N775D	probably damaging	Het
Gli3	C	T	13: 15,788,435 (GRCm39)	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,518,089 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,137 (GRCm39)	D569G	probably damaging	Het
Grina	T	A	15: 76,133,289 (GRCm39)	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,292,310 (GRCm39)		probably null	Het
Kcnc4	C	T	3: 107,355,534 (GRCm39)	V305M	probably benign	Het
Kntc1	T	C	5: 123,916,338 (GRCm39)	F724L	probably benign	Het
Kpnb1	T	C	11: 97,069,136 (GRCm39)	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,586,809 (GRCm39)	T269A	probably benign	Het
Lamc1	T	C	1: 153,097,380 (GRCm39)	K1555E	probably damaging	Het
Maneal	T	C	4: 124,755,650 (GRCm39)	Y104C	probably damaging	Het
Map1b	T	C	13: 99,567,679 (GRCm39)	T1681A	unknown	Het
Mettl17	T	C	14: 52,128,160 (GRCm39)	L272P	probably benign	Het
Mib2	T	A	4: 155,741,456 (GRCm39)	S357C	probably benign	Het
Mmp19	C	A	10: 128,634,047 (GRCm39)	T316K	possibly damaging	Het
Mroh9	C	T	1: 162,854,078 (GRCm39)	G774E	probably damaging	Het
Myh1	T	C	11: 67,096,325 (GRCm39)		probably benign	Het
Ncor2	C	A	5: 125,104,202 (GRCm39)	E963*	probably null	Het
Nol6	T	A	4: 41,123,596 (GRCm39)	T51S	probably benign	Het
Nsun3	A	T	16: 62,555,732 (GRCm39)	C265S	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,623,517 (GRCm39)	N71K	probably damaging	Het
Or10a5	T	G	7: 106,635,356 (GRCm39)	L5R	probably benign	Het
Or5p73	C	T	7: 108,065,167 (GRCm39)	T212I	probably benign	Het
Orc3	T	A	4: 34,607,228 (GRCm39)	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,575,889 (GRCm39)	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,502,616 (GRCm39)	V1241E	probably null	Het
Prpf39	C	T	12: 65,100,088 (GRCm39)	P135S	probably damaging	Het
Psrc1	T	C	3: 108,292,309 (GRCm39)	V34A	probably benign	Het
Rab27a	G	A	9: 72,989,684 (GRCm39)	V52M	probably benign	Het
Rassf9	A	G	10: 102,381,895 (GRCm39)	T424A	probably benign	Het
Ripor3	G	T	2: 167,842,297 (GRCm39)	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,466,867 (GRCm39)		probably benign	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Setbp1	C	T	18: 78,826,516 (GRCm39)	V1366M	probably benign	Het
Tctn2	T	C	5: 124,745,826 (GRCm39)		noncoding transcript	Het
Tmem45a	A	T	16: 56,631,965 (GRCm39)	F218I	possibly damaging	Het
Tpte	A	T	8: 22,845,487 (GRCm39)	R512S	probably damaging	Het
Trim37	T	A	11: 87,020,585 (GRCm39)	L22*	probably null	Het
Ttc6	A	G	12: 57,783,916 (GRCm39)	N1792D	probably damaging	Het
Ttn	A	G	2: 76,775,960 (GRCm39)	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,684,137 (GRCm39)	W201R	probably damaging	Het
Wdr74	C	T	19: 8,715,592 (GRCm39)	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,260,086 (GRCm39)	T259A	probably benign	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
R0400:Smad1	UTSW	8	80,098,399 (GRCm39)	splice site	probably benign
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
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'- GCACAGATTTACATGTTGTGAGAAGGC -3'
(R):5'- CTGAACAGACTGGCTGACACAAGG -3'

Sequencing Primer
(F):5'- GCATATGTGTATGGGGGAAGTA -3'
(R):5'- GCAGGAGTCCACCTTTATTACG -3'

Posted On

2014-03-28