Mutagenetix > Incidental Mutation

Incidental Mutation 'R9216:Olig1'

699220

Institutional Source

Beutler Lab

Gene Symbol

Olig1

Ensembl Gene

ENSMUSG00000046160

Gene Name

oligodendrocyte transcription factor 1

Synonyms

bHLHe21, Olg-1, Bhlhb6

MMRRC Submission

068958-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R9216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91066660-91068821 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91066915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 51 (S51P)

Ref Sequence

ENSEMBL: ENSMUSP00000061408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056882]

AlphaFold

Q9JKN5

Predicted Effect

probably benign
Transcript: ENSMUST00000056882
AA Change: S51P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061408
Gene: ENSMUSG00000046160
AA Change: S51P

Domain	Start	End	E-Value	Type
low complexity region	88	94	N/A	INTRINSIC
HLH	100	159	2.75e-12	SMART
low complexity region	160	196	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in impaired maturation of oligodendrocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	T	12: 52,927,668 (GRCm39)	T193S	probably benign	Het
Anpep	T	C	7: 79,486,049 (GRCm39)	T558A	possibly damaging	Het
Asap2	A	G	12: 21,263,191 (GRCm39)	I269V	probably benign	Het
B3galnt2	T	C	13: 14,165,423 (GRCm39)	V273A	probably benign	Het
Bag3	C	A	7: 128,143,923 (GRCm39)	D306E	possibly damaging	Het
Bahcc1	C	T	11: 120,177,514 (GRCm39)	P2076S	probably damaging	Het
Btbd7	A	C	12: 102,761,563 (GRCm39)	L541V	probably damaging	Het
C6	A	T	15: 4,820,465 (GRCm39)	D492V	probably damaging	Het
Cdhr5	C	T	7: 140,851,615 (GRCm39)	S563N	possibly damaging	Het
Cnn1	C	G	9: 22,019,474 (GRCm39)	L281V	probably benign	Het
Egflam	G	A	15: 7,281,942 (GRCm39)	T398I	probably benign	Het
Eif4g2	T	G	7: 110,673,415 (GRCm39)	D788A	probably benign	Het
Elavl4	T	C	4: 110,108,546 (GRCm39)	E66G	probably damaging	Het
Fbxw16	T	A	9: 109,276,887 (GRCm39)	D87V	probably damaging	Het
Fsip2	A	T	2: 82,820,425 (GRCm39)	D5386V	probably damaging	Het
Ftl1	A	C	7: 45,108,959 (GRCm39)	S33A	probably benign	Het
Gm21560	T	C	14: 6,218,338 (GRCm38)	R47G	probably damaging	Het
Itpkc	A	T	7: 26,927,429 (GRCm39)	C162S	probably benign	Het
Katnip	T	A	7: 125,471,926 (GRCm39)	I1531N	probably damaging	Het
Kremen2	C	T	17: 23,962,781 (GRCm39)	A102T	probably damaging	Het
L3mbtl1	A	T	2: 162,806,972 (GRCm39)	Q480L	probably benign	Het
Lyst	T	C	13: 13,823,188 (GRCm39)	C1387R	probably benign	Het
Nmi	A	G	2: 51,846,003 (GRCm39)	V93A	probably damaging	Het
Ntn1	T	C	11: 68,117,397 (GRCm39)	K484R	possibly damaging	Het
Or6c76	A	T	10: 129,611,796 (GRCm39)	R4S	probably benign	Het
Pah	G	T	10: 87,357,888 (GRCm39)	V4F	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pramel39-ps	A	T	5: 94,450,952 (GRCm39)	N391K	possibly damaging	Het
Prox1	C	A	1: 189,892,905 (GRCm39)	E513D	possibly damaging	Het
Psd3	T	C	8: 68,573,539 (GRCm39)	N214S	probably benign	Het
Rhobtb1	A	G	10: 69,108,628 (GRCm39)	S505G	probably benign	Het
Ryr1	A	T	7: 28,801,277 (GRCm39)	L829H	probably damaging	Het
Sec16a	A	T	2: 26,304,401 (GRCm39)	D852E		Het
Senp2	T	C	16: 21,847,344 (GRCm39)		probably null	Het
Sf3b1	A	G	1: 55,051,376 (GRCm39)	V184A	probably benign	Het
Skint5	T	C	4: 113,392,955 (GRCm39)	T1226A	unknown	Het
Slc1a6	G	A	10: 78,637,692 (GRCm39)	R406H	probably damaging	Het
Slc26a4	C	A	12: 31,578,659 (GRCm39)	V665L	possibly damaging	Het
Spef2	T	C	15: 9,647,611 (GRCm39)	Y932C	probably damaging	Het
Spidr	T	A	16: 15,936,814 (GRCm39)	N97I	probably benign	Het
Ttn	A	G	2: 76,748,504 (GRCm39)	S4182P	probably damaging	Het
Tubb6	T	C	18: 67,534,514 (GRCm39)	S138P	probably damaging	Het
Ubr2	C	T	17: 47,292,285 (GRCm39)	A393T	probably benign	Het
Utrn	G	T	10: 12,689,229 (GRCm39)	P19T	probably benign	Het
Vcl	T	G	14: 21,033,515 (GRCm39)	L157W	probably damaging	Het
Vmn1r184	A	T	7: 25,966,703 (GRCm39)	I150F	probably benign	Het
Vmn1r22	A	T	6: 57,877,257 (GRCm39)	M240K	possibly damaging	Het
Vmn2r14	A	T	5: 109,369,112 (GRCm39)	S154T	probably benign	Het
Wbp2	T	C	11: 115,974,724 (GRCm39)	N37D	probably benign	Het
Zfc3h1	C	G	10: 115,221,528 (GRCm39)	D142E	unknown	Het
Zmym6	T	C	4: 127,002,500 (GRCm39)	V577A	probably benign	Het
Zxdc	C	A	6: 90,359,189 (GRCm39)	T607K	probably benign	Het

Other mutations in Olig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02390:Olig1	APN	16	91,067,041 (GRCm39)	missense	probably damaging	0.98
P4717OSA:Olig1	UTSW	16	91,066,877 (GRCm39)	missense	probably damaging	0.99
R0368:Olig1	UTSW	16	91,067,540 (GRCm39)	missense	probably damaging	0.99
R8826:Olig1	UTSW	16	91,067,027 (GRCm39)	missense	probably benign	0.43
R8871:Olig1	UTSW	16	91,067,545 (GRCm39)	makesense	probably null
Z1177:Olig1	UTSW	16	91,067,359 (GRCm39)	missense	possibly damaging	0.83
Z1177:Olig1	UTSW	16	91,067,110 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTAAAGGTGTCAGGCGC -3'
(R):5'- TCCATGGCCAAGTTCAGGTC -3'

Sequencing Primer
(F):5'- ACCCCTGGGCGTTAGTGAAG -3'
(R):5'- AAGTTCAGGTCCTGCATGC -3'

Posted On

2022-02-07