Mutagenetix > Incidental Mutation

Incidental Mutation 'R9432:Smad5'

713046

Institutional Source

Beutler Lab

Gene Symbol

Smad5

Ensembl Gene

ENSMUSG00000021540

Gene Name

SMAD family member 5

Synonyms

Madh5, Smad 5, MusMLP

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9432 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56850823-56890190 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56875417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 202 (Y202N)

Ref Sequence

ENSEMBL: ENSMUSP00000065798 (fasta)

Gene Model

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

AlphaFold

P97454

Predicted Effect

probably benign
Transcript: ENSMUST00000069557
AA Change: Y202N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540
AA Change: Y202N

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: Y202N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540
AA Change: Y202N

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: Y202N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540
AA Change: Y202N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,917 (GRCm39)	R314G	unknown	Het
Abca13	G	A	11: 9,244,559 (GRCm39)	V2141M	probably benign	Het
Abcc10	G	A	17: 46,634,710 (GRCm39)	A431V	possibly damaging	Het
Acod1	A	G	14: 103,292,414 (GRCm39)	R313G	probably damaging	Het
Adam3	G	T	8: 25,193,928 (GRCm39)	S361R	probably damaging	Het
Ahcyl2	C	T	6: 29,768,874 (GRCm39)	T113M	possibly damaging	Het
Ano8	C	A	8: 71,933,561 (GRCm39)	R577L	unknown	Het
Arhgef7	T	A	8: 11,869,646 (GRCm39)	S653R	probably damaging	Het
Atp10a	G	A	7: 58,469,418 (GRCm39)	V1090I	possibly damaging	Het
Birc6	A	G	17: 74,966,216 (GRCm39)	M4048V	probably benign	Het
C3	G	A	17: 57,530,950 (GRCm39)	P384S	probably damaging	Het
Camkk1	A	T	11: 72,928,757 (GRCm39)	E432V	probably damaging	Het
Celsr3	T	A	9: 108,726,032 (GRCm39)	V3087D	probably benign	Het
Ckap4	A	G	10: 84,363,543 (GRCm39)	S507P	probably damaging	Het
Coq6	G	A	12: 84,420,464 (GRCm39)	M471I	probably benign	Het
Csmd2	C	A	4: 128,171,004 (GRCm39)	H332Q		Het
Cxcr1	T	A	1: 74,231,231 (GRCm39)	N264Y	probably damaging	Het
Dchs2	C	A	3: 83,036,032 (GRCm39)	R260S	possibly damaging	Het
Elmod2	C	A	8: 84,057,761 (GRCm39)	A41S	possibly damaging	Het
Emilin2	G	A	17: 71,581,781 (GRCm39)	T315I	probably benign	Het
Eml1	A	G	12: 108,482,842 (GRCm39)	N487S	probably benign	Het
Epn1	G	T	7: 5,096,369 (GRCm39)	R221L	probably benign	Het
Faah	A	G	4: 115,874,772 (GRCm39)	V28A	probably benign	Het
Fbl	G	A	7: 27,876,689 (GRCm39)	R230H	probably benign	Het
Fsip2	C	T	2: 82,805,907 (GRCm39)	S742F	probably damaging	Het
Gm5460	A	G	14: 33,767,769 (GRCm39)	D184G	possibly damaging	Het
Gpatch2l	T	C	12: 86,307,408 (GRCm39)	V262A	probably damaging	Het
Grin2c	A	T	11: 115,142,052 (GRCm39)	L789*	probably null	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hectd4	A	G	5: 121,460,864 (GRCm39)	T948A	probably benign	Het
Herc2	G	A	7: 55,780,932 (GRCm39)	G1199D	probably damaging	Het
Hoxb7	G	T	11: 96,177,617 (GRCm39)	A22S	possibly damaging	Het
Ifih1	T	A	2: 62,439,618 (GRCm39)	I519F	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,498 (GRCm39)	I320F	possibly damaging	Het
Iqgap2	T	C	13: 95,774,261 (GRCm39)	T1320A	probably benign	Het
Kat2a	A	G	11: 100,602,178 (GRCm39)	V192A	probably damaging	Het
Kat6b	A	C	14: 21,672,077 (GRCm39)	H329P	probably damaging	Het
Klhl29	A	G	12: 5,260,056 (GRCm39)	L54P	probably benign	Het
Kntc1	A	T	5: 123,925,112 (GRCm39)	I1142F	possibly damaging	Het
Lipo3	A	G	19: 33,533,864 (GRCm39)	Y323H	probably damaging	Het
Lmtk3	G	A	7: 45,441,994 (GRCm39)	V351I	probably damaging	Het
Lrrc8b	T	C	5: 105,633,888 (GRCm39)	S787P	probably benign	Het
Magi1	A	G	6: 93,660,058 (GRCm39)	I1179T	probably damaging	Het
Mapk11	T	C	15: 89,028,631 (GRCm39)	D269G	probably benign	Het
Mfsd13a	T	G	19: 46,354,868 (GRCm39)	I15R	probably benign	Het
Myo1h	G	A	5: 114,499,366 (GRCm39)	V143I	possibly damaging	Het
Naaladl1	T	C	19: 6,156,917 (GRCm39)	I187T	possibly damaging	Het
Nos1	G	A	5: 118,034,871 (GRCm39)	V416M	probably damaging	Het
Or14a256	G	A	7: 86,265,065 (GRCm39)	R263C	possibly damaging	Het
Or14j8	A	G	17: 38,263,559 (GRCm39)	S119P	probably damaging	Het
Or8k30	T	G	2: 86,338,914 (GRCm39)	I37S	probably benign	Het
Pcdh15	A	G	10: 74,460,170 (GRCm39)	T1373A	probably damaging	Het
Pcdh18	T	G	3: 49,699,667 (GRCm39)	M932L	probably damaging	Het
Pcdhb15	T	A	18: 37,608,683 (GRCm39)	H638Q	probably benign	Het
Pcdhb19	A	G	18: 37,630,628 (GRCm39)	E141G	possibly damaging	Het
Pds5b	T	G	5: 150,693,256 (GRCm39)	L656R	probably damaging	Het
Plcl1	T	C	1: 55,445,587 (GRCm39)	L14P	probably benign	Het
Pzp	A	T	6: 128,499,128 (GRCm39)	I173N		Het
Rnf123	C	T	9: 107,937,008 (GRCm39)	R849H	probably damaging	Het
Sfrp5	T	C	19: 42,188,225 (GRCm39)	D198G	probably damaging	Het
Sftpb	G	C	6: 72,283,843 (GRCm39)	A147P	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc30a6	A	G	17: 74,719,699 (GRCm39)	T220A	possibly damaging	Het
Slc5a3	T	A	16: 91,874,615 (GRCm39)	V224D	probably benign	Het
Smok2b	A	G	17: 13,453,881 (GRCm39)	I14V	probably damaging	Het
Tas2r108	T	A	6: 40,471,121 (GRCm39)	I199K	probably damaging	Het
Tcea2	A	G	2: 181,322,227 (GRCm39)	I10V	probably damaging	Het
Tfg	G	A	16: 56,524,868 (GRCm39)	R113*	probably null	Het
Tubb4a	A	T	17: 57,388,034 (GRCm39)	L331I	probably benign	Het
Ugt2b37	A	G	5: 87,402,046 (GRCm39)	V195A	probably damaging	Het
Umad1	A	G	6: 8,401,096 (GRCm39)	H55R	unknown	Het
Vmn1r176	A	T	7: 23,534,743 (GRCm39)	Y137N	probably damaging	Het
Vmn1r44	T	A	6: 89,870,473 (GRCm39)	M73K	possibly damaging	Het
Vmn2r112	A	G	17: 22,821,233 (GRCm39)	T69A		Het
Vmn2r59	A	T	7: 41,696,254 (GRCm39)	Y163N	probably damaging	Het
Vps13c	T	A	9: 67,830,137 (GRCm39)	D1514E	probably benign	Het
Vsir	A	G	10: 60,193,732 (GRCm39)	D65G	possibly damaging	Het
Ypel3	A	T	7: 126,379,262 (GRCm39)	M112L	probably benign	Het
Zfp26	T	A	9: 20,347,830 (GRCm39)	K911N	probably damaging	Het
Zfp362	C	T	4: 128,670,980 (GRCm39)	R346Q	probably damaging	Het
Zfp595	A	T	13: 67,465,407 (GRCm39)	Y288*	probably null	Het
Zfyve28	G	T	5: 34,400,633 (GRCm39)	Q22K	possibly damaging	Het
Zswim4	T	G	8: 84,963,539 (GRCm39)	D32A	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
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
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
Z1088:Smad5	UTSW	13	56,876,441 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGCCTCGTCACAATGAATTCAATC -3'
(R):5'- GTAGACTTAATTCCCCAATTTCCAG -3'

Sequencing Primer
(F):5'- CCACAACACAGCCTTCTGGTTC -3'
(R):5'- TTCACTCAGAAGACCAGC -3'

Posted On

2022-05-16