Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Smad1'

376983

Institutional Source

Beutler Lab

Gene Symbol

Smad1

Ensembl Gene

ENSMUSG00000031681

Gene Name

SMAD family member 1

Synonyms

Madr1, Madh1, Smad 1

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80065024-80126057 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80076381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 279 (L279P)

Ref Sequence

ENSEMBL: ENSMUSP00000071035 (fasta)

Gene Model

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

AlphaFold

P70340

PDB Structure

Crystal Structure of SMAD1-MH1/DNA complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066091
AA Change: L279P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071035
Gene: ENSMUSG00000031681
AA Change: L279P

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: L279P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105511
Gene: ENSMUSG00000031681
AA Change: L279P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215983

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	C	1: 138,779,903 (GRCm39)	Y116*	probably null	Het
Abtb3	C	T	10: 85,223,242 (GRCm39)	T17M	unknown	Het
Acer3	T	C	7: 97,906,908 (GRCm39)	T91A	possibly damaging	Het
Acsbg3	A	T	17: 57,183,324 (GRCm39)	I22F	possibly damaging	Het
Adam12	T	C	7: 133,774,550 (GRCm39)	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,223,822 (GRCm39)	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,330,374 (GRCm39)	V98I	probably benign	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Alpk1	C	T	3: 127,467,124 (GRCm39)	G1052R	probably damaging	Het
Anln	A	T	9: 22,291,484 (GRCm39)	S115T	possibly damaging	Het
Apob	T	A	12: 8,063,099 (GRCm39)	N3827K	probably damaging	Het
Aqr	G	A	2: 113,980,990 (GRCm39)	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,231,617 (GRCm39)	S123G	probably damaging	Het
Arvcf	C	T	16: 18,216,863 (GRCm39)	R333*	probably null	Het
Brca2	T	A	5: 150,480,402 (GRCm39)	L2724Q	probably damaging	Het
C2cd6	T	A	1: 59,133,893 (GRCm39)	T43S	probably benign	Het
Cacna1h	A	G	17: 25,596,261 (GRCm39)	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,858 (GRCm39)	I26F	possibly damaging	Het
Card10	A	T	15: 78,665,724 (GRCm39)	V673E	possibly damaging	Het
Catspere2	A	G	1: 177,931,515 (GRCm39)	Y478C	unknown	Het
Ccar1	A	G	10: 62,588,997 (GRCm39)	S829P	unknown	Het
Ccdc121	A	G	5: 31,643,596 (GRCm39)	I109V	probably benign	Het
Cdc42bpa	T	C	1: 179,972,200 (GRCm39)	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,220,257 (GRCm39)	C267Y	probably benign	Het
Cep68	G	A	11: 20,189,239 (GRCm39)	T591M	probably benign	Het
Chil4	T	C	3: 106,111,460 (GRCm39)	K218R	probably benign	Het
Cldn14	G	T	16: 93,716,747 (GRCm39)	T33K	possibly damaging	Het
Copa	T	A	1: 171,919,843 (GRCm39)	C140S	probably benign	Het
Coq6	T	C	12: 84,419,070 (GRCm39)	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,521,816 (GRCm39)	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,474,093 (GRCm39)	S414A	probably benign	Het
Dpm1	T	C	2: 168,059,679 (GRCm39)	N139S	probably benign	Het
Dpp7	T	A	2: 25,242,770 (GRCm39)		probably null	Het
Ednrb	T	C	14: 104,057,447 (GRCm39)	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Fam135a	G	A	1: 24,063,334 (GRCm39)	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866 (GRCm39)	T275A	probably benign	Het
Fbn1	T	A	2: 125,151,694 (GRCm39)	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,409,527 (GRCm39)	S587P	unknown	Het
Foxr2	A	G	X: 151,913,312 (GRCm39)	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,696,065 (GRCm39)	*124W	probably null	Het
Gm7535	T	A	17: 18,131,333 (GRCm39)		probably benign	Het
H4c1	T	C	13: 23,944,935 (GRCm39)	D69G	probably damaging	Het
Herc3	T	C	6: 58,864,484 (GRCm39)	V706A	probably damaging	Het
Hivep3	A	G	4: 119,980,131 (GRCm39)	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,233,946 (GRCm39)	I382V	probably benign	Het
Ints1	G	T	5: 139,756,911 (GRCm39)	T467N	possibly damaging	Het
Iqca1	G	A	1: 89,973,423 (GRCm39)	T783M	probably damaging	Het
Kng1	A	G	16: 22,886,448 (GRCm39)	K131R	possibly damaging	Het
Krt35	T	C	11: 99,983,956 (GRCm39)	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 101,943,881 (GRCm39)	C64R	probably damaging	Het
Lilrb4b	C	T	10: 51,360,616 (GRCm39)	A272V	possibly damaging	Het
Lrrc37	T	C	11: 103,505,698 (GRCm39)	H2090R	probably benign	Het
Ltn1	A	T	16: 87,195,697 (GRCm39)	C1276*	probably null	Het
Matn1	G	A	4: 130,679,425 (GRCm39)	A360T	probably benign	Het
Minpp1	G	A	19: 32,475,784 (GRCm39)	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904 (GRCm39)	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,195,616 (GRCm39)		probably benign	Het
Ms4a2	A	G	19: 11,595,793 (GRCm39)	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,013,913 (GRCm39)	Y235*	probably null	Het
Myh4	G	T	11: 67,131,880 (GRCm39)	W113C	probably damaging	Het
Nav2	T	A	7: 49,198,182 (GRCm39)	C1270*	probably null	Het
Ncoa5	A	G	2: 164,844,070 (GRCm39)	L111P	probably damaging	Het
Nup107	T	C	10: 117,606,383 (GRCm39)	Y453C	probably damaging	Het
Oca2	C	T	7: 55,980,106 (GRCm39)	Q604*	probably null	Het
Or13a19	T	C	7: 139,903,014 (GRCm39)	M134T	probably benign	Het
Or13p5	A	C	4: 118,591,885 (GRCm39)	H53P	probably benign	Het
Or14j10	A	T	17: 37,934,782 (GRCm39)	V248D	probably damaging	Het
Or5p58	T	A	7: 107,694,303 (GRCm39)	N158I	probably benign	Het
Or8g33	T	C	9: 39,337,531 (GRCm39)	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,416,668 (GRCm39)	G514V	possibly damaging	Het
Pik3cb	A	T	9: 98,983,381 (GRCm39)	C76S	probably damaging	Het
Plk1	T	C	7: 121,767,828 (GRCm39)	V411A	probably damaging	Het
Pole	C	T	5: 110,472,619 (GRCm39)	P1600L	probably damaging	Het
Prr36	T	C	8: 4,260,881 (GRCm39)	T979A	probably benign	Het
Rdh7	T	A	10: 127,721,590 (GRCm39)	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,842,835 (GRCm39)	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,530,891 (GRCm39)	S947T	probably benign	Het
Rtl1	A	G	12: 109,558,138 (GRCm39)	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,841,708 (GRCm39)	M279I	probably damaging	Het
Siae	T	C	9: 37,539,096 (GRCm39)	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,113,148 (GRCm39)	V364I	probably benign	Het
Sltm	G	T	9: 70,496,260 (GRCm39)	V932F	probably damaging	Het
Spag17	G	T	3: 99,958,147 (GRCm39)	G935V	probably damaging	Het
Srgap3	A	G	6: 112,723,895 (GRCm39)	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,684,844 (GRCm39)	I519V	probably benign	Het
Syt16	A	T	12: 74,176,160 (GRCm39)	I10F	probably damaging	Het
Trim43b	C	G	9: 88,973,365 (GRCm39)	G123R	probably damaging	Het
Ubr3	T	C	2: 69,843,475 (GRCm39)	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,227,639 (GRCm39)	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,380,985 (GRCm39)	W303R	probably benign	Het
Wdr93	T	C	7: 79,435,522 (GRCm39)	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,224,478 (GRCm39)	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776 (GRCm39)	C394Y	possibly 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
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
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
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'- ACAGGAATGACTGAGTCACTTCTAG -3'
(R):5'- TGTAGTCGCCCTTGCATGTC -3'

Sequencing Primer
(F):5'- ACTGAGTCACTTCTAGAGGAATAAG -3'
(R):5'- CTTCTCTGTGTGGTGCCCAG -3'

Posted On

2016-03-17