Mutagenetix > Incidental Mutation

Incidental Mutation 'R5401:Smad5'

430009

Institutional Source

Beutler Lab

Gene Symbol

Smad5

Ensembl Gene

ENSMUSG00000021540

Gene Name

SMAD family member 5

Synonyms

Madh5, Smad 5, MusMLP

MMRRC Submission

042972-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56850823-56890190 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56875282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 157 (F157L)

Ref Sequence

ENSEMBL: ENSMUSP00000105502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069557] [ENSMUST00000109874] [ENSMUST00000109876]

AlphaFold

P97454

Predicted Effect

probably benign
Transcript: ENSMUST00000069557
AA Change: F157L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540
AA Change: F157L

Domain	Start	End	E-Value	Type
DWA	26	135	2.29e-68	SMART
low complexity region	186	214	N/A	INTRINSIC
low complexity region	218	236	N/A	INTRINSIC
DWB	269	441	1.24e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109874
AA Change: F157L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540
AA Change: F157L

Domain	Start	End	E-Value	Type
DWA	26	135	2.29e-68	SMART
low complexity region	186	214	N/A	INTRINSIC
low complexity region	218	236	N/A	INTRINSIC
DWB	269	441	1.24e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109876
AA Change: F157L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540
AA Change: F157L

Domain	Start	End	E-Value	Type
DWA	26	135	2.29e-68	SMART
low complexity region	186	214	N/A	INTRINSIC
low complexity region	218	236	N/A	INTRINSIC
DWB	269	441	1.24e-105	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138677

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit vascular, craniofacial, and neural tube defects, improper turning, edema, and a deficiency of primordial germ cells. Mutants die between embryonic days 10.5 and 11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	A	G	9: 39,962,338 (GRCm39)		noncoding transcript	Het
1700025H01Rik	G	T	16: 30,018,801 (GRCm39)		noncoding transcript	Het
9330159F19Rik	T	C	10: 29,101,136 (GRCm39)	V503A	probably benign	Het
Acacb	A	G	5: 114,347,914 (GRCm39)	N995S	possibly damaging	Het
Anapc4	A	G	5: 53,020,991 (GRCm39)	K630R	probably benign	Het
Ankrd13a	A	C	5: 114,930,234 (GRCm39)	Q206H	probably damaging	Het
Ano10	A	T	9: 122,090,356 (GRCm39)	L319Q	probably damaging	Het
Camkk2	T	A	5: 122,884,398 (GRCm39)	D341V	probably damaging	Het
Ccdc88a	A	G	11: 29,413,279 (GRCm39)	I606V	probably benign	Het
Cdv3	G	T	9: 103,242,316 (GRCm39)		probably benign	Het
Cep97	A	G	16: 55,745,315 (GRCm39)	V155A	probably benign	Het
Cmya5	T	C	13: 93,228,476 (GRCm39)	E2204G	probably damaging	Het
Cracr2b	A	G	7: 141,046,136 (GRCm39)	*395W	probably null	Het
Defa27	A	G	8: 21,805,710 (GRCm39)	E50G	possibly damaging	Het
Dnah7a	A	G	1: 53,670,812 (GRCm39)	I480T	probably benign	Het
Ep400	C	A	5: 110,831,037 (GRCm39)	D2210Y	unknown	Het
Fam170a	T	A	18: 50,413,618 (GRCm39)	S28T	probably benign	Het
Fancc	C	A	13: 63,550,767 (GRCm39)	K18N	probably damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Fndc8	T	G	11: 82,788,676 (GRCm39)	S169A	possibly damaging	Het
Get3	A	T	8: 85,745,173 (GRCm39)	I298N	possibly damaging	Het
Herc1	T	C	9: 66,409,338 (GRCm39)	Y4688H	probably damaging	Het
Ighv11-2	A	T	12: 114,011,959 (GRCm39)	D85E	possibly damaging	Het
Kat14	T	C	2: 144,231,180 (GRCm39)	F196L	possibly damaging	Het
Kctd19	C	T	8: 106,109,617 (GRCm39)	V942I	probably benign	Het
Llgl1	A	G	11: 60,597,297 (GRCm39)	S249G	probably benign	Het
Map1a	T	C	2: 121,130,153 (GRCm39)	V323A	probably damaging	Het
Or4m1	C	A	14: 50,557,566 (GRCm39)	C242F	probably damaging	Het
Phf21a	C	A	2: 92,182,097 (GRCm39)	T342K	possibly damaging	Het
Piezo2	T	A	18: 63,217,811 (GRCm39)	D1122V	possibly damaging	Het
Pklr	A	G	3: 89,049,173 (GRCm39)	Y173C	probably damaging	Het
Plcz1	G	T	6: 139,938,778 (GRCm39)		probably null	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Prom1	A	T	5: 44,158,147 (GRCm39)	Y845N	probably damaging	Het
Qng1	C	A	13: 58,530,405 (GRCm39)	A202S	probably benign	Het
Ret	A	T	6: 118,158,936 (GRCm39)	S159T	probably benign	Het
Rfx1	C	A	8: 84,793,005 (GRCm39)		probably null	Het
Scp2	A	T	4: 108,001,976 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Smarcc2	C	A	10: 128,301,373 (GRCm39)	D210E	probably damaging	Het
Sptlc3	T	C	2: 139,478,643 (GRCm39)	L534P	possibly damaging	Het
Srrm1	A	G	4: 135,051,380 (GRCm39)		probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Sugct	T	A	13: 17,032,455 (GRCm39)	Q432H	probably damaging	Het
Tex9	A	T	9: 72,394,060 (GRCm39)		probably null	Het
Tsc1	C	A	2: 28,576,920 (GRCm39)	S1073*	probably null	Het
Vmn1r72	T	C	7: 11,403,843 (GRCm39)	S202G	probably damaging	Het
Vmn2r55	A	G	7: 12,385,871 (GRCm39)	V703A	probably benign	Het
Vmn2r67	A	T	7: 84,785,765 (GRCm39)	Y747N	probably damaging	Het
Zcchc4	A	G	5: 52,964,419 (GRCm39)	I292V	probably benign	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	Het
Zswim2	C	T	2: 83,755,589 (GRCm39)	G104E	possibly damaging	Het

Other mutations in Smad5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Smad5	APN	13	56,871,480 (GRCm39)	missense	probably benign	0.11
IGL01407:Smad5	APN	13	56,883,630 (GRCm39)	missense	probably benign	0.00
IGL02267:Smad5	APN	13	56,883,603 (GRCm39)	splice site	probably benign
IGL03014:Smad5	UTSW	13	56,883,754 (GRCm39)	missense	probably damaging	1.00
R1317:Smad5	UTSW	13	56,883,884 (GRCm39)	splice site	probably benign
R2001:Smad5	UTSW	13	56,885,187 (GRCm39)	missense	probably damaging	0.99
R5551:Smad5	UTSW	13	56,883,654 (GRCm39)	missense	probably damaging	1.00
R5734:Smad5	UTSW	13	56,871,617 (GRCm39)	missense	probably damaging	1.00
R5796:Smad5	UTSW	13	56,871,645 (GRCm39)	missense	probably damaging	0.98
R5988:Smad5	UTSW	13	56,883,798 (GRCm39)	missense	probably damaging	0.99
R7557:Smad5	UTSW	13	56,875,282 (GRCm39)	missense	probably benign	0.00
R7769:Smad5	UTSW	13	56,880,855 (GRCm39)	missense	possibly damaging	0.95
R8110:Smad5	UTSW	13	56,871,701 (GRCm39)	missense	probably damaging	1.00
R9215:Smad5	UTSW	13	56,880,815 (GRCm39)	missense	probably damaging	1.00
R9369:Smad5	UTSW	13	56,885,242 (GRCm39)	missense	possibly damaging	0.86
R9432:Smad5	UTSW	13	56,875,417 (GRCm39)	missense	probably benign	0.00
Z1088:Smad5	UTSW	13	56,876,441 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTTCACACAGGCTGAATG -3'
(R):5'- TACCTGGGAGTTGAAATGGAC -3'

Sequencing Primer
(F):5'- CTTCACACAGGCTGAATGCTAAAGG -3'
(R):5'- ACTTCCAGGTCCAGAGCTTG -3'

Posted On

2016-09-06