Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:Nodal'

312943

Institutional Source

Beutler Lab

Gene Symbol

Nodal

Ensembl Gene

ENSMUSG00000037171

Gene Name

nodal

Synonyms

Tg.413d

MMRRC Submission

040841-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61253751-61261117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61258833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 90 (V90E)

Ref Sequence

ENSEMBL: ENSMUSP00000039653 (fasta)

Gene Model

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

AlphaFold

P43021

Predicted Effect

probably benign
Transcript: ENSMUST00000049339
AA Change: V90E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039653
Gene: ENSMUSG00000037171
AA Change: V90E

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,029,488 (GRCm39)	I486T	probably damaging	Het
4933427D14Rik	T	C	11: 72,089,567 (GRCm39)	R106G	probably damaging	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Copa	T	A	1: 171,948,812 (GRCm39)	S1155T	probably benign	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170 (GRCm39)	A232V	probably damaging	Het
Dst	T	G	1: 34,050,979 (GRCm39)	V25G	probably benign	Het
Ehbp1	C	T	11: 22,087,867 (GRCm39)	A406T	probably benign	Het
Eml5	A	T	12: 98,768,724 (GRCm39)		probably benign	Het
Eps8	A	T	6: 137,486,153 (GRCm39)	M453K	probably benign	Het
Galnt3	T	C	2: 65,937,374 (GRCm39)	D112G	possibly damaging	Het
Glra4	C	T	X: 135,663,542 (GRCm39)	A336T	probably damaging	Het
Gmppb	A	G	9: 107,927,338 (GRCm39)	D95G	probably benign	Het
Gprc6a	T	C	10: 51,504,544 (GRCm39)	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,207,300 (GRCm39)	V247D	probably damaging	Het
Htr7	T	C	19: 36,034,160 (GRCm39)	D165G	probably damaging	Het
Igha	T	C	12: 113,219,972 (GRCm39)		probably benign	Het
Igsf10	A	G	3: 59,239,345 (GRCm39)	C279R	probably damaging	Het
Irak4	A	G	15: 94,452,621 (GRCm39)	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,535,723 (GRCm39)	V274E	probably damaging	Het
Lrpprc	A	C	17: 85,078,269 (GRCm39)		probably null	Het
Mast1	T	C	8: 85,645,393 (GRCm39)	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363 (GRCm39)	F2382L	probably benign	Het
Mepe	C	T	5: 104,484,944 (GRCm39)	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,239,414 (GRCm39)	I171F	probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Myh3	C	T	11: 66,987,262 (GRCm39)	Q1371*	probably null	Het
Npas4	A	T	19: 5,036,579 (GRCm39)	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,660,100 (GRCm39)	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,709,035 (GRCm39)	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,513,665 (GRCm39)	D947G	probably damaging	Het
Phf8-ps	A	T	17: 33,285,405 (GRCm39)	S466T	probably benign	Het
Pla2r1	A	G	2: 60,279,306 (GRCm39)	V758A	probably benign	Het
Plod2	G	T	9: 92,480,672 (GRCm39)	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Prkd3	G	A	17: 79,266,570 (GRCm39)		probably benign	Het
Prrc2a	A	G	17: 35,376,908 (GRCm39)	L734P	probably damaging	Het
Rnf128	C	A	X: 138,565,271 (GRCm39)	L282I	probably damaging	Het
Rnf213	A	G	11: 119,359,879 (GRCm39)	N4424S		Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,734,107 (GRCm39)	S66T	probably benign	Het
Setd3	T	C	12: 108,131,417 (GRCm39)	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,242,667 (GRCm39)		probably null	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Spc25	A	G	2: 69,032,945 (GRCm39)	L60P	probably damaging	Het
Stam	A	C	2: 14,143,772 (GRCm39)	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,765,131 (GRCm39)	R254P	probably benign	Het
Traf5	T	C	1: 191,729,837 (GRCm39)	T405A	probably benign	Het
Trav7-4	A	G	14: 53,699,119 (GRCm39)	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,143,862 (GRCm39)	H361N	probably damaging	Het
Ugt2b1	C	A	5: 87,065,534 (GRCm39)	V502L	probably benign	Het
Vip	T	A	10: 5,592,590 (GRCm39)	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,125,979 (GRCm39)	M1025L	probably benign	Het
Zfp541	A	G	7: 15,806,147 (GRCm39)	D94G	probably 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
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
R6212:Nodal	UTSW	10	61,259,300 (GRCm39)	missense	possibly damaging	0.82
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'- TATTGCAAGCCAATGGGGTGG -3'
(R):5'- GTCCTTTAGCCACTTGGAGAG -3'

Sequencing Primer
(F):5'- CCAATGGGGTGGGTGAGG -3'
(R):5'- TTGGTCACCTCCAGGACTGTG -3'

Posted On

2015-04-30