Mutagenetix > Incidental Mutation

Incidental Mutation 'R2231:Pou5f1'

240063

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

040232-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2231 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35816929-35821674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35820959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 134 (T134A)

Ref Sequence

ENSEMBL: ENSMUSP00000134493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000159009] [ENSMUST00000160885] [ENSMUST00000161012] [ENSMUST00000162683] [ENSMUST00000172651] [ENSMUST00000173256] [ENSMUST00000174782] [ENSMUST00000173805] [ENSMUST00000173934]

AlphaFold

P20263

Predicted Effect

probably benign
Transcript: ENSMUST00000025271
AA Change: T240A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406
AA Change: T240A

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: ENSMUST00000159009

SMART Domains

Protein: ENSMUSP00000124449
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: 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 benign
Transcript: ENSMUST00000162683

SMART Domains

Protein: ENSMUSP00000125659
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: ENSMUST00000172651
AA Change: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406
AA Change: T109A

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
AA Change: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134060
Gene: ENSMUSG00000024406
AA Change: T109A

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
AA Change: T134A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134493
Gene: ENSMUSG00000024406
AA Change: T134A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173805
AA Change: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406
AA Change: T109A

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
AA Change: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134729
Gene: ENSMUSG00000024406
AA Change: T109A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175723

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,739,440 (GRCm39)	R336W	probably damaging	Het
Alkbh6	G	A	7: 30,012,015 (GRCm39)		probably null	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Arsa	T	C	15: 89,359,925 (GRCm39)	M1V	probably null	Het
Cblb	T	A	16: 52,014,635 (GRCm39)	S895T	probably benign	Het
Cdk8	A	T	5: 146,168,414 (GRCm39)		probably benign	Het
Coch	G	A	12: 51,649,648 (GRCm39)	V320I	probably benign	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dnah5	G	A	15: 28,408,563 (GRCm39)		probably null	Het
Eif2b5	T	C	16: 20,323,520 (GRCm39)	Y424H	probably benign	Het
Enoph1	C	T	5: 100,188,136 (GRCm39)	T20I	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
L1cam	T	A	X: 72,904,947 (GRCm39)	N503I	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Nup153	A	G	13: 46,863,103 (GRCm39)		probably null	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or5b12b	A	G	19: 12,861,313 (GRCm39)	I23V	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pdk3	G	T	X: 92,857,604 (GRCm39)	N59K	probably damaging	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plekhd1	T	C	12: 80,768,725 (GRCm39)	F403L	possibly damaging	Het
Ppp3r1	G	A	11: 17,143,115 (GRCm39)	G68R	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sacs	A	G	14: 61,443,378 (GRCm39)		probably null	Het
Sbno1	A	T	5: 124,543,767 (GRCm39)	D257E	probably damaging	Het
Scn10a	T	C	9: 119,462,916 (GRCm39)	E1040G	possibly damaging	Het
Sgce	T	C	6: 4,730,066 (GRCm39)	K53E	probably benign	Het
Slc6a11	A	G	6: 114,171,590 (GRCm39)	T254A	probably damaging	Het
Spag1	A	G	15: 36,191,313 (GRCm39)	Y180C	probably benign	Het
Ssna1	G	T	2: 25,162,019 (GRCm39)	N58K	possibly damaging	Het
Tbx3	C	A	5: 119,815,589 (GRCm39)	N296K	probably damaging	Het
Tcerg1	A	G	18: 42,657,309 (GRCm39)	T264A	unknown	Het
Trdmt1	A	T	2: 13,530,436 (GRCm39)	F82I	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Usp33	C	T	3: 152,079,023 (GRCm39)	A425V	probably benign	Het
Zfp92	G	T	X: 72,466,358 (GRCm39)	L450F	possibly damaging	Het
Zw10	C	T	9: 48,975,421 (GRCm39)	T282M	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCACAATCCCTTAGCGGTTTG -3'
(R):5'- GCACAGAGATGGACATCAGATC -3'

Sequencing Primer
(F):5'- GTTCTTCAGTCCCATCTCAAGGTG -3'
(R):5'- CATCAGATCATAAGCTCTGGGATGC -3'

Posted On

2014-10-15