Mutagenetix > Incidental Mutation

Incidental Mutation 'R6212:Nodal'

503517

Institutional Source

Beutler Lab

Gene Symbol

Nodal

Ensembl Gene

ENSMUSG00000037171

Gene Name

nodal

Synonyms

Tg.413d

MMRRC Submission

044345-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61253751-61261117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61259300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 246 (H246Y)

Ref Sequence

ENSEMBL: ENSMUSP00000039653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020288] [ENSMUST00000049339]

AlphaFold

P43021

Predicted Effect

probably benign
Transcript: ENSMUST00000020288

SMART Domains

Protein: ENSMUSP00000020288
Gene: ENSMUSG00000020091

Domain	Start	End	E-Value	Type
Pfam:eIF_4EBP	1	120	4.2e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049339
AA Change: H246Y

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039653
Gene: ENSMUSG00000037171
AA Change: H246Y

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	235	244	N/A	INTRINSIC
TGFB	254	354	2.6e-58	SMART

Meta Mutation Damage Score

0.1324

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. Homozygous knockout mice for this gene exhibit early embryonic lethality, while expression of a hypomorphic allele results in defects in anteroposterior and left-right patterning. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mutants fail to form a primitive streak, show placental defects and die at gastrulation. Hypomorphic mutants are defective in anterior-posterior, anterior-midline, and left-right body patterning, resulting in multiple organ defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,172,505 (GRCm39)	I116N	probably damaging	Het
Ap3b1	T	C	13: 94,587,581 (GRCm39)	S452P	probably damaging	Het
Ap3b1	C	A	13: 94,630,207 (GRCm39)	H821N	unknown	Het
Apex1	C	T	14: 51,164,350 (GRCm39)	P264S	probably benign	Het
Arhgap27	T	C	11: 103,251,698 (GRCm39)	Y10C	probably damaging	Het
Bag6	A	G	17: 35,359,278 (GRCm39)	T208A	probably benign	Het
Brd4	G	T	17: 32,421,423 (GRCm39)	P771Q	probably damaging	Het
Capn3	A	G	2: 120,307,667 (GRCm39)	S69G	probably benign	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,800,888 (GRCm39)	H2519R	probably benign	Het
Chd8	T	A	14: 52,439,155 (GRCm39)	N48I	probably damaging	Het
Cmip	T	C	8: 118,103,895 (GRCm39)	Y128H	probably damaging	Het
Dnhd1	C	T	7: 105,353,255 (GRCm39)	P2803S	probably damaging	Het
Dusp26	G	A	8: 31,584,252 (GRCm39)	D120N	probably damaging	Het
Epha6	T	C	16: 60,245,719 (GRCm39)	H160R	possibly damaging	Het
Erg	C	T	16: 95,180,022 (GRCm39)	V215I	probably damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gabbr2	T	C	4: 46,681,189 (GRCm39)	D124G	probably damaging	Het
Gapdh	T	C	6: 125,139,661 (GRCm39)	H203R	probably damaging	Het
Garin1b	T	C	6: 29,319,373 (GRCm39)	L59P	probably damaging	Het
Ggnbp2	T	C	11: 84,727,503 (GRCm39)	M42V	possibly damaging	Het
Hk2	C	A	6: 82,705,823 (GRCm39)	A827S	probably benign	Het
Hoxa5	T	C	6: 52,179,694 (GRCm39)	E227G	probably damaging	Het
Itgax	C	A	7: 127,729,504 (GRCm39)	H31N	possibly damaging	Het
Itgax	A	G	7: 127,747,025 (GRCm39)	D942G	probably benign	Het
Kars1	A	T	8: 112,726,829 (GRCm39)		probably null	Het
Lama3	T	C	18: 12,646,702 (GRCm39)	F1739L	probably damaging	Het
Map2k1	A	T	9: 64,112,445 (GRCm39)	L155Q	probably damaging	Het
Mcf2l	A	T	8: 13,067,431 (GRCm39)	D1013V	probably damaging	Het
Mocs1	G	A	17: 49,742,224 (GRCm39)	G118S	probably damaging	Het
Ncam2	T	C	16: 81,229,650 (GRCm39)	S37P	probably damaging	Het
Nfxl1	A	G	5: 72,673,553 (GRCm39)		probably null	Het
Nwd1	G	A	8: 73,421,950 (GRCm39)	V999M	possibly damaging	Het
Oaz3	T	A	3: 94,342,375 (GRCm39)	T139S	probably benign	Het
Or6z6	T	C	7: 6,491,367 (GRCm39)		probably null	Het
Or7e165	A	G	9: 19,694,585 (GRCm39)	D52G	probably damaging	Het
P3h3	T	A	6: 124,822,606 (GRCm39)	T522S	probably benign	Het
Pgap1	A	G	1: 54,554,052 (GRCm39)	F457S	probably damaging	Het
Prkce	T	C	17: 86,866,729 (GRCm39)	Y530H	probably damaging	Het
Ptpn3	A	T	4: 57,270,070 (GRCm39)	C31S	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Serpinb6e	T	A	13: 34,025,220 (GRCm39)	N24Y	probably damaging	Het
Slc4a8	T	C	15: 100,709,452 (GRCm39)	V937A	possibly damaging	Het
Smgc	T	A	15: 91,734,830 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,148,861 (GRCm39)	N2027K	probably damaging	Het
Stra6l	T	C	4: 45,884,664 (GRCm39)	Y565H	probably benign	Het
Tmem262	A	G	19: 6,130,668 (GRCm39)	E62G	possibly damaging	Het
Tnrc6a	T	A	7: 122,742,965 (GRCm39)		probably null	Het
Txlnb	T	C	10: 17,675,057 (GRCm39)	I70T	probably damaging	Het
Whrn	A	T	4: 63,412,923 (GRCm39)	L25*	probably null	Het
Zfp326	T	A	5: 106,058,097 (GRCm39)	V412E	probably damaging	Het
Zfp831	A	G	2: 174,487,661 (GRCm39)	R779G	possibly damaging	Het

Other mutations in Nodal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Nodal	APN	10	61,254,176 (GRCm39)	missense	probably benign	0.00
IGL02153:Nodal	APN	10	61,260,324 (GRCm39)	missense	probably damaging	1.00
R1540:Nodal	UTSW	10	61,258,764 (GRCm39)	missense	probably damaging	0.96
R1993:Nodal	UTSW	10	61,254,113 (GRCm39)	missense	probably benign	0.05
R2086:Nodal	UTSW	10	61,259,077 (GRCm39)	missense	possibly damaging	0.76
R2317:Nodal	UTSW	10	61,254,212 (GRCm39)	missense	possibly damaging	0.83
R3110:Nodal	UTSW	10	61,260,276 (GRCm39)	missense	possibly damaging	0.75
R3112:Nodal	UTSW	10	61,260,276 (GRCm39)	missense	possibly damaging	0.75
R3973:Nodal	UTSW	10	61,258,833 (GRCm39)	missense	probably benign
R5785:Nodal	UTSW	10	61,259,456 (GRCm39)	missense	probably damaging	1.00
R5967:Nodal	UTSW	10	61,259,446 (GRCm39)	missense	probably damaging	0.99
R6166:Nodal	UTSW	10	61,260,337 (GRCm39)	missense	probably damaging	1.00
R6238:Nodal	UTSW	10	61,259,258 (GRCm39)	missense	probably damaging	0.96
R9145:Nodal	UTSW	10	61,259,459 (GRCm39)	missense	probably damaging	1.00
R9402:Nodal	UTSW	10	61,259,379 (GRCm39)	missense	probably damaging	0.99
X0026:Nodal	UTSW	10	61,260,339 (GRCm39)	missense	probably damaging	1.00
Z1177:Nodal	UTSW	10	61,254,154 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TCGAGCAGAAAAGTGTTGGC -3'
(R):5'- AGCCAAGCATCATACCTGG -3'

Sequencing Primer
(F):5'- CAGAAAAGTGTTGGCATCAGC -3'
(R):5'- CATCATACCTGGATGTAGGCATG -3'

Posted On

2018-02-27