Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01700:Pou3f1'

104449

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pou3f1

Ensembl Gene

ENSMUSG00000090125

Gene Name

POU domain, class 3, transcription factor 1

Synonyms

Oct-6, Otf6, Tst1, Scip, Test1, Tst-1, Oct6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

124656807-124660655 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124658857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 384 (W384L)

Ref Sequence

ENSEMBL: ENSMUSP00000137374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053491]

AlphaFold

P21952

PDB Structure

CRYSTAL STRUCTURE OF THE DIMERIC OCT-6 (POU3F1) POU DOMAIN BOUND TO PALINDROMIC MORE DNA [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053491
AA Change: W384L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137374
Gene: ENSMUSG00000090125
AA Change: W384L

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	27	43	N/A	INTRINSIC
low complexity region	75	109	N/A	INTRINSIC
low complexity region	116	134	N/A	INTRINSIC
low complexity region	136	148	N/A	INTRINSIC
low complexity region	154	189	N/A	INTRINSIC
low complexity region	202	236	N/A	INTRINSIC
POU	245	319	1.26e-52	SMART
HOX	337	399	2.15e-17	SMART
low complexity region	411	447	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184062

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit cyanosis and respiratory distress at birth and defective peripheral myelination due to arrested Scwann cell maturation. Mutants usually die at birth or shortly thereafter. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Pou3f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02981:Pou3f1	APN	4	124658443	missense	probably damaging	0.99
R0433:Pou3f1	UTSW	4	124658904	missense	probably damaging	1.00
R4606:Pou3f1	UTSW	4	124658836	missense	probably damaging	1.00
R5033:Pou3f1	UTSW	4	124658656	missense	probably damaging	1.00
R7807:Pou3f1	UTSW	4	124658281	missense	possibly damaging	0.85
R7891:Pou3f1	UTSW	4	124658439	missense	probably damaging	0.99
R8008:Pou3f1	UTSW	4	124658971	missense	unknown
R8691:Pou3f1	UTSW	4	124657756	missense	unknown
R8782:Pou3f1	UTSW	4	124659014	small deletion	probably benign
R8888:Pou3f1	UTSW	4	124658359	missense	possibly damaging	0.70
R8922:Pou3f1	UTSW	4	124658383	missense	possibly damaging	0.85
R9492:Pou3f1	UTSW	4	124658386	missense	possibly damaging	0.53
R9513:Pou3f1	UTSW	4	124659042	missense	probably benign	0.04
RF016:Pou3f1	UTSW	4	124657809	small insertion	probably benign
RF032:Pou3f1	UTSW	4	124657805	small insertion	probably benign
RF050:Pou3f1	UTSW	4	124657804	small insertion	probably benign
RF055:Pou3f1	UTSW	4	124657796	small insertion	probably benign
RF060:Pou3f1	UTSW	4	124657809	small insertion	probably benign

Posted On

2014-01-21