Incidental Mutation 'R5785:Nodal'
| ID |
447973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nodal
|
| Ensembl Gene |
ENSMUSG00000037171 |
| Gene Name |
nodal |
| Synonyms |
Tg.413d |
| MMRRC Submission |
043206-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5785 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61253751-61261117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61259456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 298
(T298A)
|
| 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: T298A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039653
Gene: ENSMUSG00000037171
AA Change: T298A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
T |
9: 99,502,725 (GRCm39) |
N295I |
probably damaging |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,216,922 (GRCm39) |
D254Y |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,618 (GRCm39) |
M328V |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,440,325 (GRCm39) |
V143D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,996 (GRCm39) |
D493G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,992 (GRCm39) |
|
probably null |
Het |
| Clec4d |
A |
G |
6: 123,251,729 (GRCm39) |
R204G |
probably benign |
Het |
| Cngb1 |
C |
A |
8: 95,980,823 (GRCm39) |
R910L |
possibly damaging |
Het |
| Coro2a |
A |
T |
4: 46,564,691 (GRCm39) |
N18K |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,110,380 (GRCm39) |
F290S |
probably damaging |
Het |
| Esp18 |
C |
T |
17: 39,720,839 (GRCm39) |
T28I |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,011,148 (GRCm39) |
F205Y |
probably benign |
Het |
| Hhip |
T |
A |
8: 80,724,821 (GRCm39) |
H317L |
possibly damaging |
Het |
| Il36b |
G |
A |
2: 24,044,661 (GRCm39) |
M20I |
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,306,168 (GRCm39) |
N276K |
probably damaging |
Het |
| Jchain |
T |
C |
5: 88,670,376 (GRCm39) |
N81S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,907,600 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,339,904 (GRCm39) |
E20V |
possibly damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,388,096 (GRCm39) |
|
probably null |
Het |
| Nvl |
T |
C |
1: 180,966,863 (GRCm39) |
Y47C |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,674 (GRCm39) |
R366C |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,804,983 (GRCm39) |
Y259C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,761,616 (GRCm39) |
|
probably null |
Het |
| Prag1 |
A |
G |
8: 36,570,641 (GRCm39) |
E408G |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,648,809 (GRCm39) |
N949S |
probably damaging |
Het |
| Scn7a |
A |
C |
2: 66,527,912 (GRCm39) |
N859K |
possibly damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,322 (GRCm39) |
I1362T |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,501,022 (GRCm39) |
R343G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Trim80 |
C |
T |
11: 115,337,301 (GRCm39) |
Q388* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,818,861 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
T |
A |
17: 23,280,461 (GRCm39) |
S41T |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,444 (GRCm39) |
T896S |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,006 (GRCm39) |
E749G |
probably damaging |
Het |
| Zbtb24 |
G |
A |
10: 41,327,849 (GRCm39) |
G245E |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,487,167 (GRCm39) |
V767A |
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 |
|
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 |
|
|
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'- CAACGCCGACATCATTTGC -3'
(R):5'- TCCCCATCACCTAATTATGGGAAC -3'
Sequencing Primer
(F):5'- TTTGCCAGACAGAAGCCAACTG -3'
(R):5'- TCAGCAGTTCAAGGTGATCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation