Mutagenetix > Incidental Mutation

Incidental Mutation 'R1540:Nodal'

171670

Institutional Source

Beutler Lab

Gene Symbol

Nodal

Ensembl Gene

ENSMUSG00000037171

Gene Name

nodal

Synonyms

Tg.413d

MMRRC Submission

039579-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1540 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61253751-61261117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61258764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 67 (V67A)

Ref Sequence

ENSEMBL: ENSMUSP00000039653 (fasta)

Gene Model

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

AlphaFold

P43021

Predicted Effect

probably damaging
Transcript: ENSMUST00000049339
AA Change: V67A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039653
Gene: ENSMUSG00000037171
AA Change: V67A

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

0.1923

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

96% (72/75)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,574,384 (GRCm39)	C767R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ap3d1	A	T	10: 80,551,775 (GRCm39)	I644N	probably benign	Het
Asb16	A	G	11: 102,163,402 (GRCm39)	I131V	probably benign	Het
Atp6v0a2	C	A	5: 124,784,638 (GRCm39)	A307D	probably damaging	Het
C1qtnf1	C	T	11: 118,338,749 (GRCm39)	H140Y	probably benign	Het
Cacna1g	T	A	11: 94,347,865 (GRCm39)	D741V	probably damaging	Het
Caprin2	T	A	6: 148,777,969 (GRCm39)	T211S	probably benign	Het
Carmil1	T	C	13: 24,283,037 (GRCm39)	E89G	possibly damaging	Het
Casz1	T	A	4: 149,027,357 (GRCm39)		probably benign	Het
Catsperb	G	A	12: 101,378,589 (GRCm39)	R30Q	probably benign	Het
Ccdc102a	A	T	8: 95,634,341 (GRCm39)		probably null	Het
Ccdc110	G	T	8: 46,395,362 (GRCm39)	E418*	probably null	Het
Ccdc90b	C	T	7: 92,231,024 (GRCm39)	A210V	probably benign	Het
Cdadc1	G	T	14: 59,823,532 (GRCm39)	A320E	probably damaging	Het
Cdadc1	T	A	14: 59,823,541 (GRCm39)	Q317L	probably damaging	Het
Cep170	C	A	1: 176,567,498 (GRCm39)	W1396L	probably damaging	Het
Col4a6	T	C	X: 140,010,854 (GRCm39)	T129A	probably damaging	Het
Ctcfl	C	T	2: 172,954,141 (GRCm39)	D319N	probably benign	Het
Dclk1	T	C	3: 55,385,244 (GRCm39)	S45P	probably damaging	Het
Efcab3	T	C	11: 104,999,726 (GRCm39)	I5581T	probably benign	Het
Evi2	T	C	11: 79,406,412 (GRCm39)	I388V	probably benign	Het
Fbxl5	A	T	5: 43,915,978 (GRCm39)	V435E	possibly damaging	Het
Fig4	A	T	10: 41,064,582 (GRCm39)	M887K	possibly damaging	Het
Glt8d1	G	A	14: 30,733,549 (GRCm39)	V345I	probably benign	Het
Gm5709	T	C	3: 59,526,073 (GRCm39)		noncoding transcript	Het
Hsp90b1	A	G	10: 86,529,906 (GRCm39)	F264L	probably damaging	Het
Id3	A	G	4: 135,871,250 (GRCm39)	S21G	possibly damaging	Het
Ighe	T	A	12: 113,235,066 (GRCm39)	N365Y	unknown	Het
Il17rd	T	G	14: 26,821,915 (GRCm39)	M403R	probably damaging	Het
Ints10	A	G	8: 69,249,365 (GRCm39)		probably benign	Het
Kcnc4	T	A	3: 107,352,743 (GRCm39)		probably null	Het
Kctd19	A	G	8: 106,114,511 (GRCm39)	S517P	probably damaging	Het
Lama5	A	G	2: 179,821,944 (GRCm39)	F2964L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,990 (GRCm39)	K405R	probably benign	Het
Lyst	T	A	13: 13,809,686 (GRCm39)	M452K	possibly damaging	Het
Mroh7	A	G	4: 106,560,273 (GRCm39)	L677P	probably benign	Het
Mrps27	T	A	13: 99,541,558 (GRCm39)	F221I	probably benign	Het
Nhlrc1	C	T	13: 47,167,820 (GRCm39)	V146M	probably damaging	Het
Nlrp9b	T	A	7: 19,782,772 (GRCm39)	C895*	probably null	Het
Nod1	T	C	6: 54,920,960 (GRCm39)	T453A	probably benign	Het
Ntsr1	T	C	2: 180,184,440 (GRCm39)	L381P	probably damaging	Het
Or13c25	T	C	4: 52,910,996 (GRCm39)	D266G	probably benign	Het
Or2b2b	T	A	13: 21,858,700 (GRCm39)	Q138L	probably benign	Het
Or9e1	T	A	11: 58,732,477 (GRCm39)	M179K	probably benign	Het
P2ry14	T	A	3: 59,022,686 (GRCm39)	K267M	probably benign	Het
Pcdh1	T	C	18: 38,322,779 (GRCm39)	N1018S	probably benign	Het
Pkn3	G	A	2: 29,974,703 (GRCm39)	V406I	probably damaging	Het
Prkcb	C	T	7: 122,226,916 (GRCm39)	T634I	probably damaging	Het
Psme2b	T	A	11: 48,836,209 (GRCm39)		probably null	Het
Ptgfrn	A	G	3: 100,967,970 (GRCm39)	I541T	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapb	T	C	2: 158,307,746 (GRCm39)	V684A	probably benign	Het
Rbbp5	C	T	1: 132,422,020 (GRCm39)	R307*	probably null	Het
Rcor1	T	A	12: 111,070,037 (GRCm39)		probably benign	Het
Rlbp1	C	T	7: 79,029,808 (GRCm39)	A142T	probably damaging	Het
Rps6ka2	A	G	17: 7,560,305 (GRCm39)	E581G	probably null	Het
Sars1	A	T	3: 108,340,461 (GRCm39)	V155E	probably benign	Het
Sec31a	G	C	5: 100,523,178 (GRCm39)	P569A	probably damaging	Het
Selenof	A	T	3: 144,300,685 (GRCm39)	K111*	probably null	Het
Serpinb7	C	T	1: 107,355,998 (GRCm39)	A7V	possibly damaging	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Snrpa1	T	A	7: 65,720,409 (GRCm39)	I204N	probably damaging	Het
Spry4	T	G	18: 38,734,740 (GRCm39)		probably benign	Het
Tcea2	A	G	2: 181,328,751 (GRCm39)	N261S	possibly damaging	Het
Tmem59l	A	G	8: 70,937,804 (GRCm39)	F192S	probably benign	Het
Tnr	T	A	1: 159,677,675 (GRCm39)	I20N	probably damaging	Het
Ttll5	C	T	12: 85,938,982 (GRCm39)	Q427*	probably null	Het
Vps45	C	T	3: 95,955,658 (GRCm39)	A111T	probably damaging	Het
Zfp395	T	C	14: 65,630,523 (GRCm39)	S358P	probably benign	Het
Zfp438	A	G	18: 5,210,740 (GRCm39)	V766A	probably benign	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
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
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'- AGCAGGTTCCAATTCTGCCTCAG -3'
(R):5'- ACGTCTCCATCCAAATGCGCTC -3'

Sequencing Primer
(F):5'- GTTCCAATTCTGCCTCAGTATGAAAC -3'
(R):5'- AAATGCGCTCCAGGCAG -3'

Posted On

2014-04-13