Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01118:Noto'

51343

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Noto

Ensembl Gene

ENSMUSG00000068302

Gene Name

notochord homeobox

Synonyms

MmNot, tc, Flh, Not

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

IGL01118

Quality Score

Status

Chromosome

Chromosomal Location

85400868-85405859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85401192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 74 (S74P)

Ref Sequence

ENSEMBL: ENSMUSP00000087006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089578]

AlphaFold

Q5TIS6

Predicted Effect

probably benign
Transcript: ENSMUST00000089578
AA Change: S74P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000087006
Gene: ENSMUSG00000068302
AA Change: S74P

Domain	Start	End	E-Value	Type
HOX	149	211	4.04e-22	SMART
low complexity region	213	225	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice display decreased tail length, a truncated or disrupted notochord, abnormal and missing vertebrae, occasional hindlimb paralysis and postnatal lethality, and abnormal somite and sclerotome development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,195,058 (GRCm39)	R539Q	probably benign	Het
Abcb1a	G	A	5: 8,724,687 (GRCm39)	R40H	probably damaging	Het
Acan	T	A	7: 78,748,401 (GRCm39)	S1057R	possibly damaging	Het
Ahnak	A	T	19: 8,989,942 (GRCm39)	D3742V	probably damaging	Het
Amdhd1	A	T	10: 93,367,430 (GRCm39)	D241E	probably benign	Het
Cntn5	T	C	9: 9,831,565 (GRCm39)	Y605C	possibly damaging	Het
Dnmt3l	T	C	10: 77,893,120 (GRCm39)	F299S	probably damaging	Het
Eif1ad19	T	A	12: 87,740,212 (GRCm39)	N116Y	probably damaging	Het
Ess2	A	T	16: 17,720,796 (GRCm39)	I350N	probably damaging	Het
G6pd2	A	T	5: 61,967,406 (GRCm39)	M394L	probably benign	Het
Gm9839	A	T	1: 32,558,924 (GRCm39)	M386K	probably benign	Het
Gtf2h3	T	C	5: 124,733,731 (GRCm39)	V268A	probably damaging	Het
Hgs	T	C	11: 120,366,040 (GRCm39)	V195A	probably damaging	Het
Igkv3-2	A	T	6: 70,675,978 (GRCm39)	S96C	probably damaging	Het
Mgl2	A	G	11: 70,025,015 (GRCm39)	E12G	probably benign	Het
Mup11	A	T	4: 60,615,779 (GRCm39)	F153I	probably damaging	Het
Nf1	T	A	11: 79,437,812 (GRCm39)	C2057S	probably damaging	Het
Nkrf	A	G	X: 36,152,410 (GRCm39)	F624S	probably damaging	Het
Or8k40	A	G	2: 86,584,314 (GRCm39)	I256T	probably benign	Het
Pax8	T	C	2: 24,332,944 (GRCm39)		probably benign	Het
Psg28	A	T	7: 18,162,017 (GRCm39)	V162D	probably damaging	Het
Rai1	T	C	11: 60,078,264 (GRCm39)	F776S	probably damaging	Het
Taar8a	A	T	10: 23,952,759 (GRCm39)	H121L	probably damaging	Het
Tas2r113	A	G	6: 132,870,278 (GRCm39)	N102S	probably benign	Het
Trpm1	A	G	7: 63,885,572 (GRCm39)	T863A	probably benign	Het
Ttf2	A	G	3: 100,874,413 (GRCm39)		probably benign	Het
Wdr62	T	C	7: 29,942,206 (GRCm39)	H611R	probably damaging	Het
Wdr90	A	T	17: 26,073,661 (GRCm39)	L762Q	probably damaging	Het
Yeats2	T	G	16: 20,005,054 (GRCm39)	S364A	probably damaging	Het
Zdhhc15	G	T	X: 103,641,712 (GRCm39)	Q82K	probably benign	Het

Other mutations in Noto

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03081:Noto	APN	6	85,401,091 (GRCm39)	missense	probably damaging	1.00
R1837:Noto	UTSW	6	85,401,159 (GRCm39)	missense	probably benign	0.00
R6898:Noto	UTSW	6	85,404,942 (GRCm39)	missense	probably damaging	1.00
R7188:Noto	UTSW	6	85,405,047 (GRCm39)	missense	possibly damaging	0.64
R7476:Noto	UTSW	6	85,402,481 (GRCm39)	missense	probably damaging	1.00
R9717:Noto	UTSW	6	85,401,327 (GRCm39)	missense	possibly damaging	0.93
RF003:Noto	UTSW	6	85,401,192 (GRCm39)	missense	probably benign	0.01

Posted On

2013-06-21