Mutagenetix > Incidental Mutation

Incidental Mutation 'R5796:Smad5'

447252

Institutional Source

Beutler Lab

Gene Symbol

Smad5

Ensembl Gene

ENSMUSG00000021540

Gene Name

SMAD family member 5

Synonyms

Madh5, Smad 5, MusMLP

MMRRC Submission

043387-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56850823-56890190 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56871645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 80 (H80R)

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: H80R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540
AA Change: H80R

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: H80R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540
AA Change: H80R

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: H80R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540
AA Change: H80R

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

0.7257

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

93% (51/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,215,077 (GRCm39)	T9A	possibly damaging	Het
Abcd3	G	A	3: 121,578,147 (GRCm39)	R160W	probably damaging	Het
Ap3d1	G	T	10: 80,549,871 (GRCm39)	T758K	possibly damaging	Het
Ate1	T	C	7: 130,068,998 (GRCm39)	Y423C	probably damaging	Het
Bsn	C	T	9: 108,003,223 (GRCm39)	G394D	probably damaging	Het
Cacna1d	T	C	14: 29,788,073 (GRCm39)	D1599G	probably damaging	Het
Cd33	A	G	7: 43,182,480 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,064,101 (GRCm39)	T81A	probably null	Het
Col12a1	T	C	9: 79,611,111 (GRCm39)	N154D	possibly damaging	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,716,517 (GRCm39)	Y40N	probably damaging	Het
Cyfip2	T	C	11: 46,089,823 (GRCm39)	N1197D	probably benign	Het
Dclre1b	G	A	3: 103,714,773 (GRCm39)	Q77*	probably null	Het
Dsc3	T	A	18: 20,104,558 (GRCm39)	M590L	probably benign	Het
Efcab14	A	T	4: 115,603,780 (GRCm39)	I153F	probably damaging	Het
Fbxo42	T	C	4: 140,927,100 (GRCm39)	V460A	probably benign	Het
Fgl1	T	G	8: 41,652,796 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,272,782 (GRCm39)	S1697P	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm15056	C	A	8: 21,391,998 (GRCm39)		probably benign	Het
Gm17409	T	A	2: 58,361,034 (GRCm39)		probably benign	Het
Gm20730	A	G	6: 43,058,464 (GRCm39)	L116P	probably damaging	Het
Grb2	T	G	11: 115,536,698 (GRCm39)	H184P	probably benign	Het
Hepacam2	G	C	6: 3,466,200 (GRCm39)		probably null	Het
Hsd3b9	A	T	3: 98,354,168 (GRCm39)	D110E	probably benign	Het
Igkv4-55	T	A	6: 69,584,432 (GRCm39)	K60M	possibly damaging	Het
Itfg1	T	A	8: 86,445,522 (GRCm39)	H603L	probably damaging	Het
Katna1	C	A	10: 7,636,575 (GRCm39)	D366E	probably damaging	Het
Klk1b26	A	G	7: 43,665,752 (GRCm39)	Y188C	probably damaging	Het
Ldhd	T	C	8: 112,353,722 (GRCm39)	T464A	probably benign	Het
Muc5b	T	C	7: 141,411,133 (GRCm39)	S1360P	unknown	Het
Nckipsd	T	G	9: 108,688,813 (GRCm39)	V116G	probably benign	Het
Nhsl1	C	T	10: 18,399,998 (GRCm39)	S374L	probably benign	Het
Oxt	G	A	2: 130,418,533 (GRCm39)	G48D	probably damaging	Het
Pramel21	A	G	4: 143,341,778 (GRCm39)	N69S	probably benign	Het
Ptprk	C	T	10: 28,259,571 (GRCm39)	T337I	probably damaging	Het
Rad54b	A	T	4: 11,615,446 (GRCm39)	D818V	probably benign	Het
Rbpjl	T	C	2: 164,252,168 (GRCm39)		probably benign	Het
Recql5	T	A	11: 115,818,691 (GRCm39)		probably benign	Het
Robo4	A	T	9: 37,322,970 (GRCm39)	D830V	probably benign	Het
Rps6kb1	C	T	11: 86,402,677 (GRCm39)	G339S	probably benign	Het
Rtel1	G	A	2: 180,982,299 (GRCm39)	E350K	probably benign	Het
Rtn3	A	G	19: 7,434,832 (GRCm39)	S368P	possibly damaging	Het
Sppl2c	T	A	11: 104,078,619 (GRCm39)	M473K	probably benign	Het
Tbrg1	A	G	9: 37,563,871 (GRCm39)		probably benign	Het
Tcf7	A	G	11: 52,152,354 (GRCm39)	I65T	probably benign	Het
Tgm2	T	C	2: 157,960,824 (GRCm39)	D618G	probably benign	Het
Tuba3b	C	T	6: 145,565,408 (GRCm39)	T292I	probably damaging	Het
Vmn1r63	G	A	7: 5,806,140 (GRCm39)	S164L	probably benign	Het
Zfp382	A	G	7: 29,832,774 (GRCm39)	K142E	probably damaging	Het
Zmym3	G	A	X: 100,459,406 (GRCm39)	P308L	probably benign	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
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
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'- GTCAATGGCCAGCTTGTTTTC -3'
(R):5'- GAAACTTACCTGGACTCTCCAC -3'

Sequencing Primer
(F):5'- TTCACTAGTCCAGCCGTGAAG -3'
(R):5'- TGGACTCTCCACTCTCTTATAGTG -3'

Posted On

2016-12-15