Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03014:Smad5'

453333

Institutional Source

Beutler Lab

Gene Symbol

Smad5

Ensembl Gene

ENSMUSG00000021540

Gene Name

SMAD family member 5

Synonyms

Madh5, Smad 5, MusMLP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03014 (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 56883754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 380 (L380P)

Ref Sequence

ENSEMBL: ENSMUSP00000105502 (fasta)

Gene Model

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

AlphaFold

P97454

Predicted Effect

probably damaging
Transcript: ENSMUST00000069557
AA Change: L380P

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

SMART Domains

Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540
AA Change: L380P

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 damaging
Transcript: ENSMUST00000109874
AA Change: L380P

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

SMART Domains

Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540
AA Change: L380P

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 damaging
Transcript: ENSMUST00000109876
AA Change: L380P

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

SMART Domains

Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540
AA Change: L380P

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: ENSMUST00000136702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138677

Meta Mutation Damage Score

0.9555

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

96% (51/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
AW112010	A	G	19: 11,025,456 (GRCm39)		noncoding transcript	Het
Ccdc134	T	C	15: 82,014,306 (GRCm39)	L13P	probably damaging	Het
Ccdc150	G	T	1: 54,329,861 (GRCm39)	V395F	probably damaging	Het
Cdh22	G	T	2: 164,954,331 (GRCm39)	S730*	probably null	Het
Cfap20dc	A	G	14: 8,431,608 (GRCm38)	*675Q	probably null	Het
Chrng	G	T	1: 87,138,759 (GRCm39)		probably null	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd2	G	T	4: 128,190,222 (GRCm39)	M387I	probably benign	Het
Cux1	T	C	5: 136,594,379 (GRCm39)		probably benign	Het
D130043K22Rik	C	T	13: 25,042,075 (GRCm39)	P335S	possibly damaging	Het
Dctn1	A	G	6: 83,174,351 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dsn1	A	T	2: 156,838,739 (GRCm39)	M292K	possibly damaging	Het
Efemp1	A	G	11: 28,876,218 (GRCm39)	Y461C	probably damaging	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Fbln2	T	C	6: 91,242,901 (GRCm39)		probably benign	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Hecw1	T	A	13: 14,420,393 (GRCm39)	Y1010F	probably damaging	Het
Igha	A	G	12: 113,222,713 (GRCm39)	V236A	unknown	Het
Igsf9b	T	C	9: 27,233,932 (GRCm39)	M377T	probably benign	Het
Itga9	A	G	9: 118,457,212 (GRCm39)	T108A	probably benign	Het
Kcna3	A	T	3: 106,945,206 (GRCm39)	M490L	probably benign	Het
Lama3	A	T	18: 12,673,024 (GRCm39)	Y886F	possibly damaging	Het
Lcorl	T	C	5: 45,931,371 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Odr4	C	A	1: 150,258,804 (GRCm39)		probably benign	Het
Or1a1b	G	A	11: 74,097,653 (GRCm39)	L130F	probably damaging	Het
Or51a39	A	T	7: 102,362,753 (GRCm39)	V289E	probably null	Het
Pex10	A	G	4: 155,155,076 (GRCm39)		probably benign	Het
Plcl2	G	A	17: 50,918,029 (GRCm39)	V943M	possibly damaging	Het
Prkcd	T	A	14: 30,329,294 (GRCm39)	T164S	probably damaging	Het
Ptprn2	T	A	12: 117,212,308 (GRCm39)	L910Q	probably damaging	Het
Rab1b	T	C	19: 5,154,923 (GRCm39)	I41V	probably benign	Het
Scpep1	T	A	11: 88,824,271 (GRCm39)		probably null	Het
Sergef	T	C	7: 46,240,180 (GRCm39)	T288A	probably damaging	Het
Setdb1	G	A	3: 95,248,726 (GRCm39)	P397S	probably damaging	Het
Setx	T	A	2: 29,029,423 (GRCm39)	D230E	probably damaging	Het
Sin3a	C	A	9: 57,002,539 (GRCm39)		probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,532,675 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,715,500 (GRCm39)	D346G	probably benign	Het
Trav7d-4	T	A	14: 53,007,353 (GRCm39)	W12R	unknown	Het
Trmt1l	G	T	1: 151,333,681 (GRCm39)	W728L	probably damaging	Het
Ubash3a	C	A	17: 31,458,198 (GRCm39)	T559K	probably damaging	Het
Vmn1r72	T	A	7: 11,403,711 (GRCm39)	I246F	possibly damaging	Het
Zfp618	A	T	4: 62,998,325 (GRCm39)	Q109L	probably 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
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
R5401:Smad5	UTSW	13	56,875,282 (GRCm39)	missense	probably benign	0.00
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'- AATCTGAGCATTACTGGAGTTTGCTG -3'
(R):5'- TGCATGCACACTTACAATGAC -3'

Sequencing Primer
(F):5'- GTGGTGTCTCACAACCATTTGCTAAG -3'
(R):5'- GACTGAAGTCACATTATACACCGTAG -3'

Posted On

2017-02-01