Mutagenetix > Incidental Mutation

Incidental Mutation 'R4691:Pou5f1'

354945

Institutional Source

Beutler Lab

Gene Symbol

Pou5f1

Ensembl Gene

ENSMUSG00000024406

Gene Name

POU domain, class 5, transcription factor 1

Synonyms

Otf3-rs7, Otf3, Otf4, Otf-3, Oct-3/4, Oct-3, Otf-4, Oct3/4, Oct-4, Otf3g, Oct4

MMRRC Submission

041942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4691 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35816929-35821674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35817028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 11 (F11Y)

Ref Sequence

ENSEMBL: ENSMUSP00000025271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000172651] [ENSMUST00000173256] [ENSMUST00000173805] [ENSMUST00000173934] [ENSMUST00000174782]

AlphaFold

P20263

PDB Structure

SOLUTION STRUCTURE OF OCT3 POU-HOMEODOMAIN [SOLUTION NMR]
POU protein:DNA complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025271
AA Change: F11Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406
AA Change: F11Y

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	39	49	N/A	INTRINSIC
low complexity region	72	85	N/A	INTRINSIC
POU	131	205	2.88e-47	SMART
HOX	223	285	4.75e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172651

SMART Domains

Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173256

SMART Domains

Protein: ENSMUSP00000134060
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173805

SMART Domains

Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173934

SMART Domains

Protein: ENSMUSP00000134729
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174782

SMART Domains

Protein: ENSMUSP00000134493
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	25	99	2.88e-47	SMART
Pfam:Homeobox	118	157	1.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175723

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein plays a key role in embryonic development and stem cell pluripotency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygosity for a targeted null mutation results in peri-implantation lethality prior to the egg cylinder stage, associated with failure to develop a pluripotent inner cell mass. Conditional mutations show defects in reproduction. [provided by MGI curators]

Allele List at MGI

All alleles(86) : Targeted(7) Gene trapped(79)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,384,195 (GRCm39)	R3882S	probably damaging	Het
Adamts2	G	T	11: 50,647,523 (GRCm39)	V299F	probably damaging	Het
Ankrd50	A	G	3: 38,537,159 (GRCm39)	S65P	probably benign	Het
Ap4e1	T	C	2: 126,903,791 (GRCm39)	C898R	probably benign	Het
Arel1	A	T	12: 84,977,023 (GRCm39)		probably null	Het
Bag6	T	A	17: 35,358,224 (GRCm39)	V164D	probably damaging	Het
C2cd5	A	G	6: 142,975,874 (GRCm39)	S769P	possibly damaging	Het
Cables1	C	T	18: 11,973,580 (GRCm39)	Q240*	probably null	Het
Ccnb1-ps	T	A	7: 41,755,516 (GRCm39)		noncoding transcript	Het
Ccz1	A	T	5: 143,928,380 (GRCm39)	I390N	possibly damaging	Het
Ceacam23	T	A	7: 17,642,891 (GRCm39)	S434T	possibly damaging	Het
Ces1a	T	C	8: 93,759,287 (GRCm39)	H283R	probably benign	Het
Clca3b	G	A	3: 144,544,853 (GRCm39)	T378I	probably benign	Het
Cpne2	A	T	8: 95,284,849 (GRCm39)	I342F	probably damaging	Het
Cyp2d9	A	G	15: 82,340,033 (GRCm39)	D141G	probably damaging	Het
Ddias	T	A	7: 92,508,024 (GRCm39)	K630N	probably damaging	Het
Dennd4b	A	G	3: 90,179,619 (GRCm39)	T626A	probably damaging	Het
Disc1	T	C	8: 125,875,186 (GRCm39)	V554A	possibly damaging	Het
Dnah10	A	G	5: 124,852,581 (GRCm39)	T1880A	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epop	C	T	11: 97,519,719 (GRCm39)	G130D	possibly damaging	Het
Erap1	T	C	13: 74,821,811 (GRCm39)	L722P	probably damaging	Het
Eya4	T	A	10: 23,015,966 (GRCm39)	T334S	probably benign	Het
Ezr	T	C	17: 7,026,961 (GRCm39)	I5V	probably benign	Het
Fam53c	A	C	18: 34,901,743 (GRCm39)	E220A	probably damaging	Het
Galnt12	T	C	4: 47,104,143 (GRCm39)	S134P	probably damaging	Het
Gcfc2	T	A	6: 81,918,408 (GRCm39)	L366*	probably null	Het
Gins4	T	A	8: 23,727,075 (GRCm39)	D6V	probably benign	Het
Grid1	A	G	14: 35,291,514 (GRCm39)	H807R	probably benign	Het
H2-T22	GTTTT	GTTT	17: 36,352,462 (GRCm39)		probably null	Het
Ighv1-66	T	C	12: 115,556,929 (GRCm39)	Y51C	probably benign	Het
Inpp4b	A	T	8: 82,849,282 (GRCm39)	Y901F	probably damaging	Het
Irf2	T	A	8: 47,299,222 (GRCm39)	S339T	probably damaging	Het
Itgae	G	T	11: 73,010,345 (GRCm39)	G612*	probably null	Het
Kdr	T	C	5: 76,105,259 (GRCm39)	K1037R	possibly damaging	Het
Mro	A	T	18: 74,006,397 (GRCm39)	M115L	probably benign	Het
Myo5a	A	G	9: 75,087,438 (GRCm39)	E1098G	probably damaging	Het
Nkx2-1	T	A	12: 56,580,350 (GRCm39)	M197L	probably benign	Het
Or7e165	T	C	9: 19,694,678 (GRCm39)	I83T	probably benign	Het
Pank2	T	A	2: 131,138,201 (GRCm39)	F430L	possibly damaging	Het
Pcx	T	A	19: 4,669,505 (GRCm39)	V794E	probably damaging	Het
Pdgfd	C	T	9: 6,288,556 (GRCm39)	P70L	probably damaging	Het
Pla2g4e	T	C	2: 120,004,781 (GRCm39)	Y521C	probably damaging	Het
Prdm9	A	G	17: 15,773,640 (GRCm39)	M252T	probably benign	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Rad51ap1	A	G	6: 126,904,516 (GRCm39)	S123P	probably benign	Het
Robo3	T	C	9: 37,336,514 (GRCm39)	E418G	probably damaging	Het
Sos2	C	T	12: 69,663,102 (GRCm39)	R631H	probably damaging	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
St3gal2	C	T	8: 111,684,417 (GRCm39)	T25I	probably benign	Het
Stra6l	G	A	4: 45,882,851 (GRCm39)	A521T	probably benign	Het
Syt7	T	A	19: 10,403,845 (GRCm39)	L177Q	probably damaging	Het
Tet2	T	A	3: 133,191,844 (GRCm39)	Q863H	possibly damaging	Het
Tmem232	T	C	17: 65,572,237 (GRCm39)	K585E	possibly damaging	Het
Trpc6	A	C	9: 8,652,979 (GRCm39)	E595A	probably damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,119 (GRCm39)	L815*	probably null	Het
Vmn2r81	C	T	10: 79,129,211 (GRCm39)	Q701*	probably null	Het
Vps13c	T	C	9: 67,860,217 (GRCm39)	V2811A	possibly damaging	Het
Vsig10l2	T	C	9: 35,428,158 (GRCm39)	S106G	possibly damaging	Het
Zfp354a	A	G	11: 50,961,064 (GRCm39)	E425G	probably damaging	Het
Zfp617	A	T	8: 72,686,659 (GRCm39)	T330S	probably benign	Het
Zfp663	G	T	2: 165,201,050 (GRCm39)		probably benign	Het
Zfp84	T	C	7: 29,476,505 (GRCm39)	L399P	probably damaging	Het
Zfp869	A	T	8: 70,159,513 (GRCm39)	C353*	probably null	Het
Zscan22	C	T	7: 12,640,488 (GRCm39)	A85V	probably benign	Het

Other mutations in Pou5f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02744:Pou5f1	APN	17	35,820,311 (GRCm39)	missense	probably damaging	1.00
IGL03062:Pou5f1	APN	17	35,820,936 (GRCm39)	missense	possibly damaging	0.86
IGL03091:Pou5f1	APN	17	35,820,939 (GRCm39)	missense	probably benign	0.32
R0553:Pou5f1	UTSW	17	35,820,374 (GRCm39)	missense	possibly damaging	0.76
R2105:Pou5f1	UTSW	17	35,820,899 (GRCm39)	missense	probably benign	0.01
R2231:Pou5f1	UTSW	17	35,820,959 (GRCm39)	missense	probably benign
R4953:Pou5f1	UTSW	17	35,821,438 (GRCm39)	missense	possibly damaging	0.54
R6208:Pou5f1	UTSW	17	35,821,357 (GRCm39)	missense	possibly damaging	0.50
R8171:Pou5f1	UTSW	17	35,820,933 (GRCm39)	missense	probably benign	0.26
R8914:Pou5f1	UTSW	17	35,821,371 (GRCm39)	missense	probably benign	0.00
R8957:Pou5f1	UTSW	17	35,821,366 (GRCm39)	missense	possibly damaging	0.86
R9122:Pou5f1	UTSW	17	35,819,953 (GRCm39)	missense	probably benign	0.00
R9632:Pou5f1	UTSW	17	35,819,731 (GRCm39)	start gained	probably benign
X0027:Pou5f1	UTSW	17	35,817,343 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAGCGCTCGCCTCAGTTTC -3'
(R):5'- AAAGTCTCCACGCCAACTTG -3'

Sequencing Primer
(F):5'- AGTTTCTCCCACCCCCACAG -3'
(R):5'- TGAGGTCCACAGTATGCCATC -3'

Posted On

2015-10-21