Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02744:Pou5f1'

306013

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02744

Quality Score

Status

Chromosome

Chromosomal Location

35816929-35821674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35820311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 40 (V40A)

Ref Sequence

ENSEMBL: ENSMUSP00000134729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000160885] [ENSMUST00000161012] [ENSMUST00000172651] [ENSMUST00000173256] [ENSMUST00000173805] [ENSMUST00000173934] [ENSMUST00000174782]

AlphaFold

P20263

Predicted Effect

probably damaging
Transcript: ENSMUST00000025271
AA Change: V171A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406
AA Change: V171A

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: ENSMUST00000160885

SMART Domains

Protein: ENSMUSP00000125167
Gene: ENSMUSG00000050410

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161012

SMART Domains

Protein: ENSMUSP00000125310
Gene: ENSMUSG00000050410

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172651
AA Change: V40A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406
AA Change: V40A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173256
AA Change: V40A

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

SMART Domains

Protein: ENSMUSP00000134060
Gene: ENSMUSG00000024406
AA Change: V40A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173805
AA Change: V40A

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

SMART Domains

Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406
AA Change: V40A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173934
AA Change: V40A

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

SMART Domains

Protein: ENSMUSP00000134729
Gene: ENSMUSG00000024406
AA Change: V40A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174782
AA Change: V65A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134493
Gene: ENSMUSG00000024406
AA Change: V65A

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

Coding Region Coverage

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	A	G	3: 104,985,852 (GRCm39)	M89V	unknown	Het
Actl11	C	A	9: 107,807,061 (GRCm39)	H461Q	probably benign	Het
Aoc1l1	A	G	6: 48,952,249 (GRCm39)	E58G	probably benign	Het
Aox4	A	T	1: 58,294,711 (GRCm39)	R973S	possibly damaging	Het
Arhgef10	C	T	8: 14,980,198 (GRCm39)	A146V	probably benign	Het
Cep350	A	T	1: 155,807,279 (GRCm39)	S713T	probably damaging	Het
Epha5	T	C	5: 84,255,848 (GRCm39)	I458V	probably benign	Het
Galnt17	A	G	5: 131,140,613 (GRCm39)	I168T	probably damaging	Het
Gli3	T	C	13: 15,788,471 (GRCm39)		probably null	Het
Gm11110	T	A	17: 57,399,693 (GRCm39)		probably benign	Het
Gm8206	T	C	14: 6,022,488 (GRCm38)	I4V	possibly damaging	Het
Golga1	A	G	2: 38,908,486 (GRCm39)	S713P	probably damaging	Het
Ing5	T	C	1: 93,744,210 (GRCm39)	M172T	probably damaging	Het
Lyn	A	G	4: 3,738,808 (GRCm39)	T27A	probably benign	Het
Or2b28	A	G	13: 21,531,164 (GRCm39)	Y22C	probably damaging	Het
Pramel13	A	T	4: 144,119,493 (GRCm39)	L358Q	probably damaging	Het
Prdm16	A	G	4: 154,429,910 (GRCm39)	L353P	probably damaging	Het
Psg18	T	A	7: 18,083,327 (GRCm39)	Q276L	probably benign	Het
Ralgapb	A	C	2: 158,288,071 (GRCm39)	Q369H	probably damaging	Het
Slc44a4	A	G	17: 35,146,776 (GRCm39)	N300D	probably damaging	Het
Slc6a15	A	T	10: 103,253,894 (GRCm39)	E610V	probably benign	Het
Slc8a2	T	C	7: 15,878,954 (GRCm39)	V480A	possibly damaging	Het
Speer1j	C	T	5: 11,555,340 (GRCm39)	T103I	possibly damaging	Het
Spg7	T	C	8: 123,820,400 (GRCm39)	F617S	probably damaging	Het
Srcap	A	G	7: 127,133,838 (GRCm39)	D863G	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Suox	T	C	10: 128,507,086 (GRCm39)	E314G	probably benign	Het
Tln2	T	A	9: 67,136,658 (GRCm39)	K1276*	probably null	Het
Tmem72	A	G	6: 116,672,451 (GRCm39)	L130P	probably damaging	Het
Ttll1	T	C	15: 83,373,778 (GRCm39)	Y345C	probably benign	Het
Ush2a	A	T	1: 188,090,914 (GRCm39)		probably null	Het
Xpo6	G	A	7: 125,707,620 (GRCm39)		probably benign	Het
Zc3h14	A	T	12: 98,751,234 (GRCm39)	Y512F	possibly damaging	Het
Zfp438	A	T	18: 5,214,760 (GRCm39)	M66K	probably benign	Het

Other mutations in Pou5f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4691:Pou5f1	UTSW	17	35,817,028 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2015-04-16