Mutagenetix > Incidental Mutation

Incidental Mutation 'R6238:Nodal'

505062

Institutional Source

Beutler Lab

Gene Symbol

Nodal

Ensembl Gene

ENSMUSG00000037171

Gene Name

nodal

Synonyms

Tg.413d

MMRRC Submission

044401-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61253751-61261117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61259258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 232 (S232P)

Ref Sequence

ENSEMBL: ENSMUSP00000039653 (fasta)

Gene Model

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

AlphaFold

P43021

Predicted Effect

probably damaging
Transcript: ENSMUST00000049339
AA Change: S232P

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

SMART Domains

Protein: ENSMUSP00000039653
Gene: ENSMUSG00000037171
AA Change: S232P

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

0.1633

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	C	10: 76,285,096 (GRCm39)	T2P	possibly damaging	Het
2610042L04Rik	A	G	14: 4,348,962 (GRCm38)	N41S	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,863 (GRCm39)	D43G	probably benign	Het
Adcy10	C	A	1: 165,403,297 (GRCm39)	Y1598*	probably null	Het
Adgrv1	G	A	13: 81,614,402 (GRCm39)	T3997M	probably benign	Het
Amfr	A	C	8: 94,726,992 (GRCm39)	F74V	probably damaging	Het
Ankrd13a	T	C	5: 114,924,787 (GRCm39)	Y91H	probably benign	Het
Baiap3	A	G	17: 25,464,732 (GRCm39)	S767P	probably benign	Het
Car12	C	T	9: 66,661,008 (GRCm39)	T124I	probably damaging	Het
Casp9	G	T	4: 141,534,448 (GRCm39)	G286V	probably damaging	Het
Cc2d2a	T	A	5: 43,828,577 (GRCm39)	D18E	probably benign	Het
Cdc27	T	C	11: 104,419,270 (GRCm39)	N221D	probably damaging	Het
Cebpz	A	G	17: 79,244,339 (GRCm39)	S41P	possibly damaging	Het
Cenpo	T	A	12: 4,281,968 (GRCm39)	S10C	possibly damaging	Het
Chid1	A	G	7: 141,076,049 (GRCm39)	V368A	probably benign	Het
Clca3a1	C	A	3: 144,714,716 (GRCm39)	V634L	probably benign	Het
Cmtr1	A	G	17: 29,901,122 (GRCm39)	D683G	probably damaging	Het
Cpsf3	G	T	12: 21,350,163 (GRCm39)	R294L	probably damaging	Het
Ddrgk1	G	A	2: 130,496,599 (GRCm39)	T255M	possibly damaging	Het
Dennd6a	T	A	14: 26,337,813 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,820,743 (GRCm39)	R526G	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Efcab10	T	C	12: 33,448,433 (GRCm39)	Y89H	probably damaging	Het
Etl4	T	A	2: 20,806,379 (GRCm39)	D1200E	probably damaging	Het
Fbn1	T	A	2: 125,166,865 (GRCm39)	D2017V	probably damaging	Het
Ftmt	G	A	18: 52,465,307 (GRCm39)	V208M	probably damaging	Het
Fzd10	T	C	5: 128,679,995 (GRCm39)	Y572H	probably damaging	Het
Gcc1	T	C	6: 28,420,742 (GRCm39)	K39E	probably damaging	Het
Hydin	A	G	8: 111,118,743 (GRCm39)		probably null	Het
Lif	A	G	11: 4,218,940 (GRCm39)	E73G	possibly damaging	Het
Lrtm1	C	A	14: 28,749,628 (GRCm39)	Q357K	probably benign	Het
Mef2d	T	A	3: 88,066,852 (GRCm39)	L205Q	probably damaging	Het
Naalad2	T	A	9: 18,296,361 (GRCm39)	E96D	probably damaging	Het
Nbas	T	C	12: 13,532,596 (GRCm39)	I1768T	probably benign	Het
Or52ab7	A	T	7: 102,978,115 (GRCm39)	I141F	possibly damaging	Het
Or8b12c	A	G	9: 37,715,317 (GRCm39)	T37A	probably benign	Het
Parl	G	A	16: 20,120,963 (GRCm39)	R39C	possibly damaging	Het
Pcdha9	G	A	18: 37,132,028 (GRCm39)	V366I	probably benign	Het
Pdzd8	A	G	19: 59,288,994 (GRCm39)	V802A	probably benign	Het
Plcl2	T	C	17: 50,913,873 (GRCm39)	V294A	probably damaging	Het
Plxna2	T	A	1: 194,472,504 (GRCm39)	S1083T	probably benign	Het
Polr2a	G	T	11: 69,638,047 (GRCm39)	L141I	possibly damaging	Het
Ptpre	C	A	7: 135,272,909 (GRCm39)	R468S	probably damaging	Het
Raet1e	T	A	10: 22,056,770 (GRCm39)	N115K	probably benign	Het
Rfx8	C	A	1: 39,709,554 (GRCm39)	S491I	probably damaging	Het
Rpe	T	A	1: 66,740,807 (GRCm39)	L48*	probably null	Het
Skint5	A	T	4: 113,800,064 (GRCm39)		probably null	Het
Spata24	C	A	18: 35,793,389 (GRCm39)	S111I	possibly damaging	Het
Suz12	G	C	11: 79,893,006 (GRCm39)		probably benign	Het
Taf4	T	A	2: 179,573,832 (GRCm39)	I679F	probably damaging	Het
Tlr1	G	T	5: 65,084,472 (GRCm39)	P35Q	possibly damaging	Het
Tonsl	T	C	15: 76,520,418 (GRCm39)		probably null	Het
Tsen54	G	A	11: 115,711,513 (GRCm39)	R310H	probably benign	Het
Ttc7b	A	G	12: 100,461,681 (GRCm39)	S99P	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uhmk1	T	A	1: 170,027,563 (GRCm39)	N378I	probably damaging	Het
Vmn2r107	A	G	17: 20,565,849 (GRCm39)	T55A	probably benign	Het
Vmn2r74	C	T	7: 85,601,280 (GRCm39)	C786Y	probably damaging	Het
Wdr20rt	C	T	12: 65,272,964 (GRCm39)		probably benign	Het
Zfand2a	T	A	5: 139,467,746 (GRCm39)	H42L	probably damaging	Het
Zfp990	T	A	4: 145,264,483 (GRCm39)	C494S	probably damaging	Het
Zkscan4	A	T	13: 21,668,757 (GRCm39)	R403W	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
R6212:Nodal	UTSW	10	61,259,300 (GRCm39)	missense	possibly damaging	0.82
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'- CAGCCAAGCATCATACCTGG -3'

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

Posted On

2018-02-28