Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02981:Pou3f1'

406544

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 #

IGL02981

Quality Score

Status

Chromosome

Chromosomal Location

124551439-124554448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124552236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 246 (D246G)

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: D246G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137374
Gene: ENSMUSG00000090125
AA Change: D246G

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,675,044 (GRCm39)	S392P	probably benign	Het
Adam23	G	A	1: 63,610,112 (GRCm39)	V705I	probably damaging	Het
Ank2	T	G	3: 126,728,211 (GRCm39)	D794A	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aqr	T	C	2: 113,965,305 (GRCm39)		probably benign	Het
Atp9b	A	G	18: 80,797,504 (GRCm39)	V857A	possibly damaging	Het
Banp	T	C	8: 122,705,303 (GRCm39)	Y58H	possibly damaging	Het
Cacna1e	T	A	1: 154,347,171 (GRCm39)	N999Y	probably benign	Het
Cd14	T	C	18: 36,859,532 (GRCm39)		probably benign	Het
Crmp1	T	C	5: 37,443,770 (GRCm39)	I447T	probably damaging	Het
Dip2a	A	G	10: 76,112,255 (GRCm39)	V1090A	possibly damaging	Het
Ep400	T	A	5: 110,903,969 (GRCm39)	H210L	possibly damaging	Het
Ep400	T	A	5: 110,839,476 (GRCm39)		probably benign	Het
Fam243	T	C	16: 92,117,757 (GRCm39)	N177S	probably benign	Het
Fbxw26	A	G	9: 109,573,862 (GRCm39)	F97L	probably benign	Het
Fut8	C	A	12: 77,521,812 (GRCm39)	P484T	probably damaging	Het
Golph3	A	G	15: 12,349,550 (GRCm39)	E190G	probably benign	Het
Hectd1	A	T	12: 51,815,670 (GRCm39)	D1472E	possibly damaging	Het
Hnrnpdl	T	C	5: 100,184,958 (GRCm39)	I298V	possibly damaging	Het
Jakmip2	C	A	18: 43,695,595 (GRCm39)		probably null	Het
Kcnj5	G	A	9: 32,233,877 (GRCm39)	T146I	probably damaging	Het
Lyst	T	G	13: 13,809,496 (GRCm39)	F389V	probably damaging	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Myo3b	T	C	2: 69,938,969 (GRCm39)	V114A	probably damaging	Het
Or10a2	C	A	7: 106,673,758 (GRCm39)	T241N	probably damaging	Het
Pappa2	C	T	1: 158,678,714 (GRCm39)	G901R	probably benign	Het
Patz1	T	C	11: 3,240,656 (GRCm39)	Y15H	probably damaging	Het
Pdp2	T	C	8: 105,320,267 (GRCm39)	W39R	probably benign	Het
Poc5	T	C	13: 96,538,265 (GRCm39)		probably null	Het
Pramel5	T	A	4: 143,999,430 (GRCm39)	Y219F	probably benign	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,676,670 (GRCm39)	K678E	probably damaging	Het
Rps2	T	C	17: 24,940,698 (GRCm39)	F271L	probably benign	Het
Serpina3k	C	A	12: 104,307,250 (GRCm39)	Q161K	probably benign	Het
Serpinb6b	A	G	13: 33,155,589 (GRCm39)	T101A	probably benign	Het
Tprkb	T	A	6: 85,904,861 (GRCm39)	D112E	probably benign	Het
Tubal3	A	G	13: 3,983,257 (GRCm39)	T346A	probably benign	Het
Vwde	A	G	6: 13,193,112 (GRCm39)	F409S	possibly damaging	Het
Zbtb6	G	A	2: 37,319,176 (GRCm39)	Q251*	probably null	Het

Other mutations in Pou3f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Pou3f1	APN	4	124,552,650 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02