Mutagenetix > Incidental Mutation

Incidental Mutation 'R8836:Smad1'

674162

Institutional Source

Beutler Lab

Gene Symbol

Smad1

Ensembl Gene

ENSMUSG00000031681

Gene Name

SMAD family member 1

Synonyms

Madr1, Madh1, Smad 1

MMRRC Submission

068664-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80065024-80126057 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80098554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 87 (I87F)

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: I87F

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

SMART Domains

Protein: ENSMUSP00000071035
Gene: ENSMUSG00000031681
AA Change: I87F

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: I87F

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

SMART Domains

Protein: ENSMUSP00000105511
Gene: ENSMUSG00000031681
AA Change: I87F

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4m1	T	A	5: 138,173,061 (GRCm39)	I134N	probably damaging	Het
Cacna1b	A	G	2: 24,542,982 (GRCm39)	V1294A	possibly damaging	Het
Carmil1	A	T	13: 24,339,029 (GRCm39)	S160T	probably damaging	Het
Ccdc7b	C	A	8: 129,857,512 (GRCm39)		probably benign	Het
Chd9	T	G	8: 91,767,812 (GRCm39)	N2436K	probably damaging	Het
Cradd	G	A	10: 95,158,462 (GRCm39)	A95V	probably benign	Het
Cttnbp2	T	G	6: 18,375,952 (GRCm39)	E1529A	probably damaging	Het
Cyp11b1	T	C	15: 74,710,387 (GRCm39)	I305V	possibly damaging	Het
Cyp2j6	A	T	4: 96,411,983 (GRCm39)	N428K	probably damaging	Het
Cyp3a44	A	T	5: 145,731,728 (GRCm39)	S139R	probably damaging	Het
Dysf	C	T	6: 84,093,105 (GRCm39)	R1073C	probably damaging	Het
Ei24	A	G	9: 36,701,498 (GRCm39)	F23S		Het
Enam	T	C	5: 88,639,124 (GRCm39)		probably null	Het
Ezh2	A	T	6: 47,531,196 (GRCm39)	C163S	probably benign	Het
Fam76b	T	A	9: 13,755,381 (GRCm39)	F329L	probably benign	Het
Gatad2b	G	A	3: 90,263,507 (GRCm39)	A535T	probably damaging	Het
Gm5622	T	A	14: 51,796,770 (GRCm39)		probably benign	Het
Gm9195	C	A	14: 72,695,830 (GRCm39)	A1401S	probably benign	Het
Greb1l	A	T	18: 10,509,257 (GRCm39)	H523L	probably benign	Het
Grhl3	T	A	4: 135,288,640 (GRCm39)	N15I	probably damaging	Het
Gsta3	A	T	1: 21,330,283 (GRCm39)	Y95F	probably benign	Het
Htr1f	C	A	16: 64,747,196 (GRCm39)	G32V	probably benign	Het
Il18r1	C	A	1: 40,535,016 (GRCm39)	Q404K	probably benign	Het
Izumo3	A	T	4: 92,033,216 (GRCm39)		probably null	Het
Kctd19	T	A	8: 106,112,028 (GRCm39)	I806F	probably damaging	Het
Lama4	G	T	10: 38,902,587 (GRCm39)	C187F	probably damaging	Het
Lamp3	T	G	16: 19,519,788 (GRCm39)	I132L	probably benign	Het
Ly9	A	T	1: 171,432,559 (GRCm39)	Y151*	probably null	Het
Lztr1	T	C	16: 17,343,402 (GRCm39)	L474P	probably benign	Het
Mcm9	A	T	10: 53,502,130 (GRCm39)	Y79N		Het
Mocs2	T	A	13: 114,961,760 (GRCm39)	N80K	possibly damaging	Het
Mrgbp	T	A	2: 180,224,712 (GRCm39)	C38S	probably benign	Het
Ncs1	G	T	2: 31,136,159 (GRCm39)		probably benign	Het
Or51a10	G	A	7: 103,699,055 (GRCm39)	P169S	probably benign	Het
Or8k17	T	C	2: 86,066,888 (GRCm39)	N90S	probably benign	Het
Pakap	A	G	4: 57,709,916 (GRCm39)	D287G	probably benign	Het
Pax5	A	T	4: 44,645,621 (GRCm39)	V236E	probably benign	Het
Pcdhgb5	A	G	18: 37,865,260 (GRCm39)	I352V	probably benign	Het
Pik3r5	A	G	11: 68,385,104 (GRCm39)	T670A	probably benign	Het
Plxna2	T	A	1: 194,479,243 (GRCm39)	N1301K	possibly damaging	Het
Pou2af3	A	G	9: 51,182,104 (GRCm39)	L156P	probably damaging	Het
Pou5f2	G	A	13: 78,173,886 (GRCm39)	G276D	probably damaging	Het
Ppl	C	G	16: 4,906,854 (GRCm39)	R1147P	probably damaging	Het
Pramel17	T	C	4: 101,693,022 (GRCm39)	K326R	probably benign	Het
Prkdc	C	A	16: 15,545,523 (GRCm39)	R1880S	probably damaging	Het
Rbfox1	T	A	16: 7,227,605 (GRCm39)	D373E	probably benign	Het
Rbm24	A	G	13: 46,582,780 (GRCm39)	D233G	probably damaging	Het
Rbp3	A	T	14: 33,680,588 (GRCm39)	E1063D	possibly damaging	Het
Rc3h2	A	G	2: 37,267,941 (GRCm39)	V939A	possibly damaging	Het
Relb	C	A	7: 19,345,799 (GRCm39)	V385L	possibly damaging	Het
Robo4	T	G	9: 37,317,130 (GRCm39)	S482A	unknown	Het
Ryr1	A	C	7: 28,774,091 (GRCm39)	L2426R	probably damaging	Het
Sass6	A	T	3: 116,407,598 (GRCm39)	E238V	possibly damaging	Het
Ski	T	C	4: 155,245,047 (GRCm39)	I400V	probably benign	Het
Slc27a2	C	A	2: 126,416,656 (GRCm39)	A336D		Het
Slc30a3	T	C	5: 31,250,668 (GRCm39)	T12A	possibly damaging	Het
Slc6a6	T	C	6: 91,725,444 (GRCm39)	V447A	probably damaging	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Sytl3	C	A	17: 6,973,410 (GRCm39)	T237N	possibly damaging	Het
Tdrd7	A	G	4: 45,987,570 (GRCm39)	T68A	probably damaging	Het
Tex56	T	A	13: 35,116,526 (GRCm39)	W92R	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem238	A	G	7: 4,792,520 (GRCm39)	C8R	possibly damaging	Het
Ubxn2b	A	T	4: 6,216,061 (GRCm39)	Q328L	probably damaging	Het
Vmn1r226	A	G	17: 20,908,133 (GRCm39)	T122A	probably benign	Het
Vps13d	A	G	4: 144,882,648 (GRCm39)	F982L		Het
Xpo4	T	C	14: 57,902,367 (GRCm39)	E16G	probably benign	Het
Zbtb17	T	A	4: 141,189,233 (GRCm39)	M51K	possibly damaging	Het
Zdhhc1	A	G	8: 106,200,173 (GRCm39)	F315S	probably benign	Het
Zfp568	C	T	7: 29,722,459 (GRCm39)	T468M	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
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
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
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'- ATCTCAGTGGGACTCAGGAC -3'
(R):5'- TCCAGCTGTGAAGAGACTCC -3'

Sequencing Primer
(F):5'- GGACTCAGGACTCTGTCACTCAC -3'
(R):5'- CAGCTGTGAAGAGACTCCTTGGG -3'

Posted On

2021-07-15