Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Pou3f1'

346000

Institutional Source

Beutler Lab

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

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4606 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

124656807-124660655 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124658836 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 377 (E377V)

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: E377V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137374
Gene: ENSMUSG00000090125
AA Change: E377V

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

Meta Mutation Damage Score

0.3942

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,210,745	W178R	probably benign	Het
Abcb5	T	C	12: 118,932,610		probably null	Het
Akr1b3	C	A	6: 34,306,664		probably benign	Het
Arid1a	A	G	4: 133,687,323	F1199S	unknown	Het
Atp4b	A	G	8: 13,389,998	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,752,461	S127P	probably damaging	Het
Blk	C	T	14: 63,374,203	V428I	probably benign	Het
C87414	A	T	5: 93,636,602	D137E	probably damaging	Het
Ccser1	T	C	6: 61,311,584	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,474,526	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,814,154	Y173N	possibly damaging	Het
Ddr2	T	A	1: 170,001,852	I278F	probably benign	Het
Degs1	T	C	1: 182,276,823	D299G	probably damaging	Het
Dip2b	G	A	15: 100,215,329	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 49,962,181	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,316,590		probably benign	Het
Ephb6	A	G	6: 41,616,574	Y518C	probably benign	Het
Eps15l1	A	T	8: 72,373,916	F606I	possibly damaging	Het
Extl1	A	G	4: 134,371,379	S114P	probably damaging	Het
Extl1	A	C	4: 134,371,380	D113E	probably benign	Het
Fat1	T	C	8: 44,950,683	V157A	possibly damaging	Het
Fcho1	A	T	8: 71,712,480	D444E	probably benign	Het
Fgd3	T	A	13: 49,296,560	D71V	probably damaging	Het
Fgd5	T	A	6: 91,988,209	D316E	possibly damaging	Het
Gys2	A	T	6: 142,454,484	F334I	possibly damaging	Het
Ik	G	T	18: 36,753,555	R360L	possibly damaging	Het
Kazn	A	C	4: 142,118,288		probably null	Het
Kmt2d	A	T	15: 98,839,716		probably benign	Het
Krr1	T	C	10: 111,975,677		probably benign	Het
Krt83	C	T	15: 101,487,049	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,630,313	V428A	probably benign	Het
Lvrn	C	A	18: 46,864,765	T260K	possibly damaging	Het
Mcc	C	T	18: 44,468,421	E614K	probably damaging	Het
Msrb3	A	T	10: 120,849,997	V81D	probably damaging	Het
Muc19	C	T	15: 91,934,383		noncoding transcript	Het
Myadm	T	A	7: 3,297,400	L226*	probably null	Het
Myof	C	T	19: 37,967,099	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,429,323		probably benign	Het
Olfr1010	T	A	2: 85,753,940		probably benign	Het
Olfr1260	C	A	2: 89,978,006	A76D	possibly damaging	Het
Olfr1270	G	T	2: 90,148,816		probably benign	Het
Olfr398	A	G	11: 73,983,892	S239P	probably damaging	Het
Pars2	T	C	4: 106,654,050	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,265,528	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,308,652	D338E	probably damaging	Het
Pik3r2	G	A	8: 70,772,136	R199*	probably null	Het
Pla2g4f	C	T	2: 120,313,986	R24Q	probably benign	Het
Pnma2	T	C	14: 66,916,232	I35T	probably benign	Het
Podn	C	A	4: 108,017,867	A568S	probably benign	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ptpn9	A	T	9: 57,022,211	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,487	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf217	T	A	10: 31,517,476	K370*	probably null	Het
Rpap2	G	A	5: 107,601,795	V62I	possibly damaging	Het
Scaper	A	T	9: 55,655,903		probably null	Het
Sos2	T	C	12: 69,614,606		probably benign	Het
Sptbn5	C	T	2: 120,067,446		probably null	Het
Sumo1	A	G	1: 59,644,509		probably benign	Het
Syne2	C	A	12: 75,989,253	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,730,769	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,978,624	M1140K	probably benign	Het
Usp29	G	A	7: 6,963,357		probably null	Het
Wdr7	C	T	18: 63,779,945	Q946*	probably null	Het
Ythdf1	T	C	2: 180,912,182	D46G	probably damaging	Het
Zfp217	T	C	2: 170,119,750	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,393,783	I256T	probably benign	Het

Other mutations in Pou3f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Pou3f1	APN	4	124658857	missense	probably damaging	1.00
IGL02981:Pou3f1	APN	4	124658443	missense	probably damaging	0.99
R0433:Pou3f1	UTSW	4	124658904	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

Predicted Primers

PCR Primer
(F):5'- TGCTCAACAAGTGGCTGGAG -3'
(R):5'- GCATTCTGGATCTTCCGCTG -3'

Sequencing Primer
(F):5'- AGGAGACCGACTCGTCCAG -3'
(R):5'- AGGGTCACTGCACAGAGC -3'

Posted On

2015-09-25