Mutagenetix > Incidental Mutation

Incidental Mutation 'R9369:Smad5'

709232

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 #

R9369 (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 C at 56885242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 450 (V450A)

Ref Sequence

ENSEMBL: ENSMUSP00000065798 (fasta)

Gene Model

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

AlphaFold

P97454

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069557
AA Change: V450A

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540
AA Change: V450A

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

possibly damaging
Transcript: ENSMUST00000109874
AA Change: V450A

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540
AA Change: V450A

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

possibly damaging
Transcript: ENSMUST00000109876
AA Change: V450A

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540
AA Change: V450A

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
9330159F19Rik	T	A	10: 29,100,974 (GRCm39)	V449D	probably damaging	Het
Abca13	G	T	11: 9,328,444 (GRCm39)	V3506L	probably damaging	Het
Accs	G	A	2: 93,666,093 (GRCm39)	Q498*	probably null	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
C2cd2	T	C	16: 97,723,333 (GRCm39)	I61M	possibly damaging	Het
Cd22	T	C	7: 30,576,999 (GRCm39)	T103A	probably benign	Het
Cd55	A	T	1: 130,375,187 (GRCm39)	L150*	probably null	Het
Ces3b	A	G	8: 105,813,502 (GRCm39)	S258G	probably damaging	Het
Cln6	A	G	9: 62,754,431 (GRCm39)	T158A	probably damaging	Het
Dnah7a	T	C	1: 53,543,421 (GRCm39)	K2250E	probably benign	Het
Dnah7a	T	A	1: 53,564,222 (GRCm39)	N1946Y	possibly damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Eps15	T	A	4: 109,240,034 (GRCm39)	D492E	probably damaging	Het
Ern1	A	T	11: 106,305,259 (GRCm39)	M377K	probably benign	Het
Esrrb	A	G	12: 86,517,102 (GRCm39)	D78G	probably damaging	Het
Fat2	A	T	11: 55,201,514 (GRCm39)	M520K	possibly damaging	Het
Foxb1	A	G	9: 69,666,930 (GRCm39)	L200P	probably damaging	Het
Gli2	G	T	1: 118,765,885 (GRCm39)	N755K	probably benign	Het
Gnal	A	G	18: 67,324,439 (GRCm39)		probably null	Het
Gxylt1	A	T	15: 93,172,896 (GRCm39)	F23I	possibly damaging	Het
Hsd17b13	T	A	5: 104,125,034 (GRCm39)	R50W	probably damaging	Het
Htr5b	G	C	1: 121,455,482 (GRCm39)	A146G	possibly damaging	Het
Ifi206	A	G	1: 173,301,489 (GRCm39)	F730L	unknown	Het
Ifrd2	C	T	9: 107,467,802 (GRCm39)	Q163*	probably null	Het
Ift88	A	T	14: 57,685,137 (GRCm39)	I318F	probably benign	Het
Ighv5-12	T	A	12: 113,665,985 (GRCm39)	K38*	probably null	Het
Il17rc	T	C	6: 113,449,641 (GRCm39)	S112P	probably benign	Het
Itgb7	T	C	15: 102,131,821 (GRCm39)	N254S	probably damaging	Het
Jak2	T	A	19: 29,266,203 (GRCm39)		probably null	Het
Jmjd8	A	T	17: 26,048,686 (GRCm39)	H100L	unknown	Het
Kcnh4	T	C	11: 100,648,428 (GRCm39)	E92G	probably damaging	Het
Kif13a	T	C	13: 46,940,099 (GRCm39)	I989V	probably damaging	Het
Kif5b	A	T	18: 6,223,584 (GRCm39)	N308K	probably damaging	Het
Loxl3	A	T	6: 83,027,393 (GRCm39)	T683S	probably benign	Het
Macf1	C	T	4: 123,349,150 (GRCm39)		probably null	Het
Met	A	G	6: 17,492,228 (GRCm39)	K330R	probably benign	Het
Mideas	A	G	12: 84,219,670 (GRCm39)	V428A	probably benign	Het
Mybl1	T	C	1: 9,742,829 (GRCm39)	E593G	probably damaging	Het
N4bp2	T	G	5: 65,964,259 (GRCm39)	D769E	probably damaging	Het
Or10ak13	T	A	4: 118,639,077 (GRCm39)	Q235L	probably benign	Het
Or10j3b	A	G	1: 173,043,451 (GRCm39)	I78V	possibly damaging	Het
Or52ae7	A	G	7: 103,119,555 (GRCm39)	Y103C	probably benign	Het
Otoa	C	T	7: 120,744,840 (GRCm39)	A866V	probably benign	Het
Pak4	A	G	7: 28,260,240 (GRCm39)	L492P	probably damaging	Het
Pctp	A	T	11: 89,876,938 (GRCm39)	L187H	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf8-ps	T	G	17: 33,285,579 (GRCm39)	T408P	probably damaging	Het
Pik3ap1	T	G	19: 41,317,743 (GRCm39)	D204A	probably damaging	Het
Pitrm1	T	C	13: 6,603,280 (GRCm39)	V110A	probably benign	Het
Prokr1	A	T	6: 87,558,407 (GRCm39)	V326E	possibly damaging	Het
Prrt2	T	C	7: 126,619,343 (GRCm39)	I41V	probably benign	Het
Psmb1	A	G	17: 15,710,478 (GRCm39)	Y24H	probably damaging	Het
Ptpdc1	C	T	13: 48,736,722 (GRCm39)	A683T	possibly damaging	Het
Ptprb	A	G	10: 116,151,057 (GRCm39)	K240E	probably benign	Het
Ranbp2	T	C	10: 58,316,486 (GRCm39)	V2402A	probably benign	Het
Rictor	T	C	15: 6,773,848 (GRCm39)	F79L	probably benign	Het
Ripk2	A	C	4: 16,127,651 (GRCm39)	S364A	probably benign	Het
S100a4	A	T	3: 90,512,394 (GRCm39)	K26*	probably null	Het
Shank1	A	G	7: 44,001,478 (GRCm39)	T1066A	unknown	Het
Slc9b2	A	G	3: 135,036,446 (GRCm39)	T417A	probably benign	Het
Slf2	C	T	19: 44,923,953 (GRCm39)	Q256*	probably null	Het
Smok3c	A	C	5: 138,063,770 (GRCm39)	D419A	probably damaging	Het
Tdpoz4	A	T	3: 93,703,741 (GRCm39)	T13S	probably damaging	Het
Tdrd6	A	T	17: 43,936,217 (GRCm39)	N1610K	probably damaging	Het
Tex19.2	A	G	11: 121,007,566 (GRCm39)	L294P	possibly damaging	Het
Tex44	T	C	1: 86,355,383 (GRCm39)	W431R	probably damaging	Het
Tmcc1	A	T	6: 116,111,050 (GRCm39)	V77E	probably benign	Het
Tmed4	A	T	11: 6,224,133 (GRCm39)	M121K	possibly damaging	Het
Trit1	T	C	4: 122,945,898 (GRCm39)	V349A	possibly damaging	Het
Txndc15	C	T	13: 55,869,507 (GRCm39)	A220V	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ufd1	T	C	16: 18,634,113 (GRCm39)		probably null	Het
Umps	T	C	16: 33,777,206 (GRCm39)	N458S	probably benign	Het
Vmn2r24	A	C	6: 123,792,357 (GRCm39)	Q561H	probably damaging	Het
Vwce	T	G	19: 10,624,061 (GRCm39)	S317R	probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp977	A	T	7: 42,229,518 (GRCm39)	F336I	probably damaging	Het
Zranb3	A	T	1: 127,887,828 (GRCm39)	D866E	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
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
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'- TACCATATGTGAGTGCTTACTGG -3'
(R):5'- GGGGCAAAATACTCTACATCGTTTAC -3'

Sequencing Primer
(F):5'- AAGTAAGTCTTATGTGTTTCTGCAG -3'
(R):5'- TTGAAAGTTAATCACAATGAACACG -3'

Posted On

2022-04-18