Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Smad1'

202377

Institutional Source

Beutler Lab

Gene Symbol

Smad1

Ensembl Gene

ENSMUSG00000031681

Gene Name

SMAD family member 1

Synonyms

Madr1, Madh1, Smad 1

MMRRC Submission

039827-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80065024-80126057 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80070473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 355 (V355E)

Ref Sequence

ENSEMBL: ENSMUSP00000105511 (fasta)

Gene Model

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

AlphaFold

P70340

Predicted Effect

probably damaging
Transcript: ENSMUST00000066091
AA Change: V355E

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

SMART Domains

Protein: ENSMUSP00000071035
Gene: ENSMUSG00000031681
AA Change: V355E

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 damaging
Transcript: ENSMUST00000109885
AA Change: V355E

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

SMART Domains

Protein: ENSMUSP00000105511
Gene: ENSMUSG00000031681
AA Change: V355E

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,285 (GRCm39)	K200E	possibly damaging	Het
Abcc2	A	G	19: 43,803,225 (GRCm39)	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Abcg3	C	T	5: 105,087,030 (GRCm39)	S534N	possibly damaging	Het
Acp1	A	G	12: 30,946,113 (GRCm39)		probably null	Het
Adam12	C	A	7: 133,569,590 (GRCm39)	R295L	probably benign	Het
Albfm1	A	T	5: 90,727,460 (GRCm39)	E359D	probably damaging	Het
Alg1	C	A	16: 5,057,007 (GRCm39)	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,726,149 (GRCm39)	W410R	possibly damaging	Het
As3mt	A	G	19: 46,713,373 (GRCm39)	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,115,843 (GRCm39)	I289V	probably damaging	Het
Cdk17	A	G	10: 93,044,114 (GRCm39)	I18V	possibly damaging	Het
Cep131	C	T	11: 119,964,562 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Cnih2	T	C	19: 5,144,314 (GRCm39)	K66E	probably benign	Het
Cpsf3	T	A	12: 21,356,851 (GRCm39)	N491K	probably benign	Het
Cux1	C	T	5: 136,304,169 (GRCm39)	E1253K	probably benign	Het
Dcc	A	C	18: 71,500,232 (GRCm39)	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,739,439 (GRCm39)	M200K	probably damaging	Het
Ech1	A	G	7: 28,531,288 (GRCm39)	Y292C	probably damaging	Het
Edc4	G	T	8: 106,617,717 (GRCm39)	A1121S	probably benign	Het
Eml6	T	A	11: 29,832,041 (GRCm39)	I210F	probably benign	Het
Fam135b	T	C	15: 71,324,290 (GRCm39)	T1226A	probably benign	Het
Flg2	C	T	3: 93,108,283 (GRCm39)	R104C	probably damaging	Het
Frzb	T	C	2: 80,276,872 (GRCm39)	I105V	possibly damaging	Het
Gli3	A	G	13: 15,888,097 (GRCm39)	D504G	probably damaging	Het
Gm42669	A	T	5: 107,655,683 (GRCm39)	K1161*	probably null	Het
Gm6665	T	C	18: 31,953,186 (GRCm39)	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,145,593 (GRCm39)	V148A	probably benign	Het
Hoxc5	T	C	15: 102,922,866 (GRCm39)	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,168 (GRCm39)	I59F	probably damaging	Het
Iqch	G	A	9: 63,495,659 (GRCm39)	P111S	possibly damaging	Het
Itih1	G	T	14: 30,651,856 (GRCm39)	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,864,833 (GRCm39)	E632D	probably benign	Het
L2hgdh	C	T	12: 69,746,340 (GRCm39)	M373I	probably benign	Het
Map3k4	C	T	17: 12,482,906 (GRCm39)	E604K	probably benign	Het
Mok	T	A	12: 110,774,479 (GRCm39)	Y420F	probably benign	Het
Nedd1	G	A	10: 92,534,601 (GRCm39)	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,042,160 (GRCm39)	M174L	probably benign	Het
Or6c213	A	C	10: 129,574,578 (GRCm39)	I69M	probably benign	Het
Pag1	T	A	3: 9,758,946 (GRCm39)	T391S	probably benign	Het
Palm3	A	G	8: 84,755,432 (GRCm39)	R315G	probably benign	Het
Patj	C	T	4: 98,575,675 (GRCm39)	R1177W	probably damaging	Het
Pbld2	G	A	10: 62,910,903 (GRCm39)		probably null	Het
Phldb1	A	T	9: 44,627,842 (GRCm39)	M81K	probably damaging	Het
Pkn2	A	G	3: 142,515,289 (GRCm39)	F682L	probably damaging	Het
Plce1	T	C	19: 38,747,392 (GRCm39)		probably null	Het
Plekha8	T	A	6: 54,617,959 (GRCm39)	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,981 (GRCm39)	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,564,410 (GRCm39)	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,123,546 (GRCm39)	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743 (GRCm38)	V52A	probably damaging	Het
Rab27b	A	G	18: 70,122,617 (GRCm39)	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,230,723 (GRCm39)		probably null	Het
Rasa3	G	A	8: 13,632,372 (GRCm39)	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,393,634 (GRCm39)	R499*	probably null	Het
S1pr4	A	G	10: 81,335,024 (GRCm39)	M150T	probably damaging	Het
Scube2	T	C	7: 109,430,882 (GRCm39)	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,917,150 (GRCm39)	K173R	probably benign	Het
Serpina3m	T	A	12: 104,355,774 (GRCm39)	I147N	probably damaging	Het
Sh3rf3	G	T	10: 58,922,489 (GRCm39)	G522*	probably null	Het
Srsf11	A	G	3: 157,725,065 (GRCm39)	V211A	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stt3a	C	T	9: 36,654,711 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,010,557 (GRCm39)	V2488A	probably benign	Het
Tbc1d23	T	C	16: 56,993,463 (GRCm39)	T568A	possibly damaging	Het
Tnn	A	C	1: 159,968,258 (GRCm39)	V378G	probably damaging	Het
Trim50	T	C	5: 135,382,355 (GRCm39)	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,132,024 (GRCm39)	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,841,567 (GRCm39)	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,042,128 (GRCm39)	T196A	probably benign	Het
Wdr64	G	A	1: 175,639,585 (GRCm39)	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,369,996 (GRCm39)	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298 (GRCm39)	K216*	probably null	Het
Zfp39	T	C	11: 58,791,486 (GRCm39)	D67G	probably damaging	Het
Zfp40	A	G	17: 23,394,514 (GRCm39)	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,758,215 (GRCm39)	V716A	probably benign	Het
Zfp616	T	A	11: 73,976,105 (GRCm39)	C791*	probably null	Het
Zfp932	G	A	5: 110,144,489 (GRCm39)		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
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
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'- TCACCTTCACGAAGCTCATC -3'
(R):5'- TTTGTTATTTCCTGAACAGACTGGC -3'

Sequencing Primer
(F):5'- TTCACGAAGCTCATCCGAATAGTG -3'
(R):5'- CTGACACAAGGGTAACATAGTTAC -3'

Posted On

2014-06-23