Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03094:Olig3'

418500

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olig3

Ensembl Gene

ENSMUSG00000045591

Gene Name

oligodendrocyte transcription factor 3

Synonyms

bHLHe20, Bhlhb7

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.605) question?

Stock #

IGL03094

Quality Score

Status

Chromosome

Chromosomal Location

19232287-19234352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19232878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 168 (S168P)

Ref Sequence

ENSEMBL: ENSMUSP00000057106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053225]

AlphaFold

Q6PFG8

Predicted Effect

probably benign
Transcript: ENSMUST00000053225
AA Change: S168P

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057106
Gene: ENSMUSG00000045591
AA Change: S168P

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	25	33	N/A	INTRINSIC
HLH	90	144	3.68e-13	SMART
low complexity region	165	184	N/A	INTRINSIC
low complexity region	186	203	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibit impaired development of class A neurons in the dorsal spinal cord, the alar plate, with reduced numbers of dI1 neurons and misspecified dI2 and dI3 neurons that assume the identity of class B neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,074,938 (GRCm39)	N1375S	probably benign	Het
Adamts15	A	T	9: 30,815,768 (GRCm39)		probably benign	Het
Ahnak	G	A	19: 8,980,911 (GRCm39)	V732M	possibly damaging	Het
Akr1c19	G	A	13: 4,286,184 (GRCm39)	V61I	probably benign	Het
BC025920	C	A	10: 81,444,906 (GRCm39)	R10S	probably benign	Het
Cdh11	T	C	8: 103,385,035 (GRCm39)	I347V	probably benign	Het
Cyp11b2	A	G	15: 74,724,886 (GRCm39)		probably null	Het
Cyp4a31	T	A	4: 115,435,305 (GRCm39)		probably benign	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Glra3	C	A	8: 56,578,207 (GRCm39)	H421Q	probably benign	Het
Gtf2f1	T	C	17: 57,314,049 (GRCm39)	N145S	probably damaging	Het
Hsd17b12	A	T	2: 93,864,339 (GRCm39)	V256E	probably damaging	Het
Ighv1-34	C	T	12: 114,814,958 (GRCm39)	G68E	probably damaging	Het
Ipo5	T	C	14: 121,181,089 (GRCm39)		probably benign	Het
Knop1	T	A	7: 118,452,374 (GRCm39)	D63V	possibly damaging	Het
Krt39	T	C	11: 99,411,628 (GRCm39)		probably benign	Het
Ldhb	T	C	6: 142,451,253 (GRCm39)	K5R	probably benign	Het
Loxhd1	A	T	18: 77,518,809 (GRCm39)	I1872F	possibly damaging	Het
Lrfn5	A	G	12: 61,886,532 (GRCm39)	N107D	probably benign	Het
Mks1	A	G	11: 87,746,291 (GRCm39)		probably benign	Het
Nup93	C	T	8: 95,023,130 (GRCm39)	T236I	probably benign	Het
Or1i2	A	G	10: 78,447,953 (GRCm39)	I174T	possibly damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Per3	A	C	4: 151,093,755 (GRCm39)	I1020R	probably damaging	Het
Plbd2	T	C	5: 120,624,845 (GRCm39)	N441S	probably damaging	Het
Plec	A	G	15: 76,075,519 (GRCm39)	S398P	probably damaging	Het
Ppm1m	T	G	9: 106,073,610 (GRCm39)	K314T	probably damaging	Het
Prmt2	T	A	10: 76,046,224 (GRCm39)		probably benign	Het
Rbm19	T	C	5: 120,261,023 (GRCm39)	S216P	probably damaging	Het
Sart1	A	G	19: 5,434,109 (GRCm39)		probably benign	Het
Tmem225	A	T	9: 40,059,682 (GRCm39)	I21L	possibly damaging	Het
Tnnt2	T	C	1: 135,777,200 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,064,754 (GRCm39)		probably benign	Het
Trip13	A	G	13: 74,081,075 (GRCm39)	L97P	probably benign	Het
Zmat2	T	G	18: 36,929,119 (GRCm39)	V89G	probably damaging	Het

Other mutations in Olig3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1726:Olig3	UTSW	10	19,232,482 (GRCm39)	missense	probably benign
R3921:Olig3	UTSW	10	19,232,423 (GRCm39)	missense	probably damaging	0.99
R6042:Olig3	UTSW	10	19,232,503 (GRCm39)	missense	probably damaging	1.00
R7382:Olig3	UTSW	10	19,232,413 (GRCm39)	missense	unknown
R7827:Olig3	UTSW	10	19,232,518 (GRCm39)	missense	probably benign
R8143:Olig3	UTSW	10	19,232,732 (GRCm39)	missense	probably damaging	1.00
R9732:Olig3	UTSW	10	19,233,151 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02