Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Nodal'

694582

Institutional Source

Beutler Lab

Gene Symbol

Nodal

Ensembl Gene

ENSMUSG00000037171

Gene Name

nodal

Synonyms

Tg.413d

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61253751-61261117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61259459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 299 (N299D)

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

probably damaging
Transcript: ENSMUST00000049339
AA Change: N299D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039653
Gene: ENSMUSG00000037171
AA Change: N299D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,536,032 (GRCm39)	H720L	probably benign	Het
Abca15	T	C	7: 119,987,388 (GRCm39)	Y1225H	probably benign	Het
Adck1	C	A	12: 88,335,193 (GRCm39)	N26K	probably benign	Het
Adcy3	A	G	12: 4,245,208 (GRCm39)	D382G	probably damaging	Het
Ahi1	T	A	10: 20,876,488 (GRCm39)	C800S	probably benign	Het
Ahnak	G	T	19: 8,992,287 (GRCm39)	V4524L	probably benign	Het
Aoc1l1	C	A	6: 48,952,890 (GRCm39)	R272S	probably benign	Het
Apol11a	C	T	15: 77,397,778 (GRCm39)	A43V	probably benign	Het
Arid1a	T	C	4: 133,421,214 (GRCm39)	M479V	unknown	Het
Atp13a2	T	A	4: 140,724,056 (GRCm39)	C324S	probably damaging	Het
C2cd2	T	G	16: 97,677,486 (GRCm39)	T413P	probably damaging	Het
Cct5	A	C	15: 31,591,107 (GRCm39)	D531E		Het
Chst1	A	T	2: 92,444,523 (GRCm39)	I332F	probably damaging	Het
Col12a1	A	T	9: 79,527,344 (GRCm39)	V2662D	probably benign	Het
Cts3	A	G	13: 61,712,800 (GRCm39)	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,160,371 (GRCm39)		probably benign	Het
Dhx9	A	G	1: 153,336,826 (GRCm39)	I807T	probably damaging	Het
Exoc3l4	T	C	12: 111,388,586 (GRCm39)	L25P	probably benign	Het
Ggcx	T	A	6: 72,402,905 (GRCm39)	C288S	probably benign	Het
Gjb3	A	G	4: 127,220,140 (GRCm39)	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,417,574 (GRCm39)	S201P	probably benign	Het
Helz2	A	T	2: 180,881,848 (GRCm39)	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,662,684 (GRCm39)		probably null	Het
Ift70a1	A	T	2: 75,810,423 (GRCm39)	Y553*	probably null	Het
Il12a	C	T	3: 68,598,875 (GRCm39)	R19W	unknown	Het
Isoc1	C	T	18: 58,806,347 (GRCm39)	A219V	possibly damaging	Het
Jup	T	A	11: 100,269,124 (GRCm39)	T430S	probably benign	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Map4	A	T	9: 109,855,268 (GRCm39)	Q131L	probably damaging	Het
Mau2	T	A	8: 70,480,165 (GRCm39)	K314M	probably damaging	Het
Mga	A	G	2: 119,794,493 (GRCm39)	M2726V	probably benign	Het
Mgme1	G	A	2: 144,114,405 (GRCm39)		probably null	Het
Msrb2	A	G	2: 19,399,066 (GRCm39)	E143G	probably benign	Het
Muc5b	G	T	7: 141,411,350 (GRCm39)	C1432F	unknown	Het
Naglu	T	C	11: 100,961,940 (GRCm39)	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,109,193 (GRCm39)	Y103H	probably benign	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,448,948 (GRCm39)	S97A	probably benign	Het
Nuak1	A	T	10: 84,210,587 (GRCm39)	S500R	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,736,175 (GRCm39)	E104G	probably benign	Het
Or3a1b	C	T	11: 74,012,526 (GRCm39)	T137I	probably benign	Het
Or52e18	T	A	7: 104,609,204 (GRCm39)	H245L	probably damaging	Het
Palld	T	C	8: 62,330,107 (GRCm39)	T257A	probably benign	Het
Pcnx4	C	T	12: 72,603,043 (GRCm39)	P435L	probably damaging	Het
Piezo1	T	C	8: 123,208,753 (GRCm39)	T2538A	unknown	Het
Plagl1	T	C	10: 13,003,872 (GRCm39)	L380P	unknown	Het
Polrmt	G	T	10: 79,576,415 (GRCm39)	Q514K	probably benign	Het
Psg17	T	G	7: 18,553,851 (GRCm39)	D133A	probably benign	Het
Rab3b	G	A	4: 108,797,903 (GRCm39)	D185N	probably benign	Het
Ranbp2	T	A	10: 58,291,736 (GRCm39)	S248T	probably benign	Het
Rdh10	C	A	1: 16,199,430 (GRCm39)	A212D	probably damaging	Het
Rinl	A	G	7: 28,495,089 (GRCm39)	H154R		Het
Selenbp1	T	C	3: 94,851,414 (GRCm39)	M389T	probably benign	Het
Serpina1c	T	A	12: 103,862,400 (GRCm39)	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,282,746 (GRCm39)	S467T		Het
Sipa1l1	A	G	12: 82,443,335 (GRCm39)	D875G	probably benign	Het
Slc10a6	A	T	5: 103,776,800 (GRCm39)	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Slc20a2	T	C	8: 23,030,447 (GRCm39)	F168L	probably benign	Het
Slc25a1	A	T	16: 17,745,108 (GRCm39)		probably null	Het
Slc5a12	A	G	2: 110,471,242 (GRCm39)	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,677,028 (GRCm39)	D42G	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Susd5	G	A	9: 113,925,289 (GRCm39)	G391R	probably damaging	Het
Sync	G	T	4: 129,187,618 (GRCm39)	A217S		Het
Tha1	T	A	11: 117,759,512 (GRCm39)	N326Y	probably damaging	Het
Tjp1	A	T	7: 64,952,564 (GRCm39)	F1590Y	probably benign	Het
Tle4	T	C	19: 14,445,583 (GRCm39)	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024 (GRCm39)	T2054A	probably damaging	Het
Ttll4	A	G	1: 74,718,949 (GRCm39)	K267E	probably benign	Het
Usp32	C	T	11: 84,913,118 (GRCm39)	G930D	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,397 (GRCm39)		probably benign	Het
Zfp459	C	T	13: 67,556,735 (GRCm39)	S116N	probably benign	Het
Zfp981	C	A	4: 146,622,410 (GRCm39)	T445N	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
R6238:Nodal	UTSW	10	61,259,258 (GRCm39)	missense	probably damaging	0.96
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'- ACGCCGACATCATTTGCCAG -3'
(R):5'- CTCCCCATCACCTAATTATGGG -3'

Sequencing Primer
(F):5'- TTTGCCAGACAGAAGCCAACTG -3'
(R):5'- TCAGCAGTTCAAGGTGATCC -3'

Posted On

2022-01-20