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

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

124551439-124554448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124552650 bp (GRCm39)

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: 71,319,549 (GRCm39)	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,486,312 (GRCm39)	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,582,198 (GRCm39)	T276A	probably benign	Het
Ankrd55	T	C	13: 112,517,702 (GRCm39)	I556T	probably benign	Het
Aqp4	A	G	18: 15,532,922 (GRCm39)	I57T	probably benign	Het
Atp1a1	T	C	3: 101,501,574 (GRCm39)	D43G	possibly damaging	Het
Cyld	G	A	8: 89,433,727 (GRCm39)	R172H	probably damaging	Het
Ear2	A	T	14: 44,340,716 (GRCm39)	R125*	probably null	Het
Efcab9	T	C	11: 32,477,451 (GRCm39)	R24G	probably damaging	Het
F7	C	A	8: 13,078,685 (GRCm39)	Q39K	probably benign	Het
Galntl6	A	T	8: 58,411,494 (GRCm39)		probably benign	Het
Kcnj5	A	G	9: 32,233,925 (GRCm39)	V130A	probably damaging	Het
Magee2	A	G	X: 103,899,574 (GRCm39)	I359T	possibly damaging	Het
Myh1	T	G	11: 67,102,238 (GRCm39)	I843S	probably damaging	Het
Nfat5	T	A	8: 108,065,762 (GRCm39)	M98K	probably damaging	Het
Nrip3	T	A	7: 109,361,074 (GRCm39)	N200I	possibly damaging	Het
Or6c219	A	T	10: 129,781,810 (GRCm39)	N40K	probably damaging	Het
Phkb	A	T	8: 86,744,094 (GRCm39)	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,516,926 (GRCm39)	V69A	probably benign	Het
Prrc2a	G	A	17: 35,369,643 (GRCm39)	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,079,337 (GRCm39)	P27H	probably damaging	Het
Pvr	C	A	7: 19,643,157 (GRCm39)	A359S	probably benign	Het
Rasal1	A	T	5: 120,814,882 (GRCm39)	I711F	probably benign	Het
Ror1	C	T	4: 100,266,968 (GRCm39)	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,479,904 (GRCm39)	I638L	unknown	Het
Slfn10-ps	C	T	11: 82,919,938 (GRCm39)		noncoding transcript	Het
Sptbn4	A	G	7: 27,103,693 (GRCm39)	L1176P	probably damaging	Het
Usp21	A	T	1: 171,110,975 (GRCm39)	F421I	probably damaging	Het
Utp25	G	A	1: 192,800,573 (GRCm39)	P416S	probably damaging	Het
Vmn1r61	T	A	7: 5,614,202 (GRCm39)	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,722,221 (GRCm39)	R364*	probably null	Het
Vps29	A	G	5: 122,500,930 (GRCm39)	Y165C	probably damaging	Het
Wdfy4	T	C	14: 32,742,195 (GRCm39)		probably benign	Het
Wdr24	A	G	17: 26,044,802 (GRCm39)	D219G	probably damaging	Het
Xpo1	T	C	11: 23,226,422 (GRCm39)		probably benign	Het
Zfp831	C	A	2: 174,486,711 (GRCm39)	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,843,658 (GRCm39)		probably benign	Het

Other mutations in Pou3f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02981:Pou3f1	APN	4	124,552,236 (GRCm39)	missense	probably damaging	0.99
R0433:Pou3f1	UTSW	4	124,552,697 (GRCm39)	missense	probably damaging	1.00
R4606:Pou3f1	UTSW	4	124,552,629 (GRCm39)	missense	probably damaging	1.00
R5033:Pou3f1	UTSW	4	124,552,449 (GRCm39)	missense	probably damaging	1.00
R7807:Pou3f1	UTSW	4	124,552,074 (GRCm39)	missense	possibly damaging	0.85
R7891:Pou3f1	UTSW	4	124,552,232 (GRCm39)	missense	probably damaging	0.99
R8008:Pou3f1	UTSW	4	124,552,764 (GRCm39)	missense	unknown
R8691:Pou3f1	UTSW	4	124,551,549 (GRCm39)	missense	unknown
R8782:Pou3f1	UTSW	4	124,552,807 (GRCm39)	small deletion	probably benign
R8888:Pou3f1	UTSW	4	124,552,152 (GRCm39)	missense	possibly damaging	0.70
R8922:Pou3f1	UTSW	4	124,552,176 (GRCm39)	missense	possibly damaging	0.85
R9492:Pou3f1	UTSW	4	124,552,179 (GRCm39)	missense	possibly damaging	0.53
R9513:Pou3f1	UTSW	4	124,552,835 (GRCm39)	missense	probably benign	0.04
RF016:Pou3f1	UTSW	4	124,551,602 (GRCm39)	small insertion	probably benign
RF032:Pou3f1	UTSW	4	124,551,598 (GRCm39)	small insertion	probably benign
RF050:Pou3f1	UTSW	4	124,551,597 (GRCm39)	small insertion	probably benign
RF055:Pou3f1	UTSW	4	124,551,589 (GRCm39)	small insertion	probably benign
RF060:Pou3f1	UTSW	4	124,551,602 (GRCm39)	small insertion	probably benign

Posted On

2014-01-21