Mutagenetix > Incidental Mutations

Incidental Mutation 'R7741:Pou2f1'

596528

Institutional Source

Beutler Lab

Gene Symbol

Pou2f1

Ensembl Gene

ENSMUSG00000026565

Gene Name

POU domain, class 2, transcription factor 1

Synonyms

oct-1, Otf1, Oct-1C, Otf-1, Oct-1B, Oct1, Oct-1z, 2810482H01Rik, Oct-1A

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7741 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165865154-166002678 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165875875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 749 (S749P)

Ref Sequence

ENSEMBL: ENSMUSP00000124738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027850] [ENSMUST00000069609] [ENSMUST00000111426] [ENSMUST00000111427] [ENSMUST00000111429] [ENSMUST00000159212] [ENSMUST00000160260] [ENSMUST00000160908] [ENSMUST00000161971] [ENSMUST00000178336] [ENSMUST00000184643] [ENSMUST00000187313]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027850
AA Change: S662P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: S662P

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	94	123	N/A	INTRINSIC
low complexity region	137	152	N/A	INTRINSIC
low complexity region	171	192	N/A	INTRINSIC
low complexity region	199	217	N/A	INTRINSIC
POU	241	315	1.55e-52	SMART
low complexity region	316	332	N/A	INTRINSIC
HOX	342	404	2.54e-19	SMART
low complexity region	422	448	N/A	INTRINSIC
low complexity region	453	520	N/A	INTRINSIC
low complexity region	529	567	N/A	INTRINSIC
low complexity region	675	685	N/A	INTRINSIC
low complexity region	688	705	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000069609
AA Change: S714P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: S714P

Domain	Start	End	E-Value	Type
low complexity region	83	112	N/A	INTRINSIC
low complexity region	130	172	N/A	INTRINSIC
low complexity region	189	204	N/A	INTRINSIC
low complexity region	223	244	N/A	INTRINSIC
low complexity region	251	269	N/A	INTRINSIC
POU	293	367	1.55e-52	SMART
low complexity region	368	384	N/A	INTRINSIC
HOX	394	456	2.54e-19	SMART
low complexity region	474	500	N/A	INTRINSIC
low complexity region	505	572	N/A	INTRINSIC
low complexity region	581	619	N/A	INTRINSIC
low complexity region	727	737	N/A	INTRINSIC
low complexity region	740	757	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000111426
AA Change: S714P

SMART Domains

Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: S714P

Domain	Start	End	E-Value	Type
low complexity region	83	112	N/A	INTRINSIC
low complexity region	130	172	N/A	INTRINSIC
low complexity region	189	204	N/A	INTRINSIC
low complexity region	223	244	N/A	INTRINSIC
low complexity region	251	269	N/A	INTRINSIC
POU	293	367	6.7e-55	SMART
low complexity region	368	384	N/A	INTRINSIC
HOX	394	456	1.3e-21	SMART
low complexity region	474	500	N/A	INTRINSIC
low complexity region	531	596	N/A	INTRINSIC
low complexity region	605	643	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111427
AA Change: S738P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: S738P

Domain	Start	End	E-Value	Type
low complexity region	83	112	N/A	INTRINSIC
low complexity region	130	172	N/A	INTRINSIC
low complexity region	189	204	N/A	INTRINSIC
low complexity region	223	244	N/A	INTRINSIC
low complexity region	251	269	N/A	INTRINSIC
POU	293	367	1.55e-52	SMART
low complexity region	368	384	N/A	INTRINSIC
HOX	394	456	2.54e-19	SMART
low complexity region	474	500	N/A	INTRINSIC
low complexity region	531	596	N/A	INTRINSIC
low complexity region	605	643	N/A	INTRINSIC
low complexity region	751	761	N/A	INTRINSIC
low complexity region	764	781	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111429
AA Change: S702P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: S702P

Domain	Start	End	E-Value	Type
low complexity region	71	100	N/A	INTRINSIC
low complexity region	118	160	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
low complexity region	211	232	N/A	INTRINSIC
low complexity region	239	257	N/A	INTRINSIC
POU	281	355	6.7e-55	SMART
low complexity region	356	372	N/A	INTRINSIC
HOX	382	444	1.3e-21	SMART
low complexity region	462	488	N/A	INTRINSIC
low complexity region	493	560	N/A	INTRINSIC
low complexity region	569	607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159212

SMART Domains

Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565

Domain	Start	End	E-Value	Type
low complexity region	71	100	N/A	INTRINSIC
low complexity region	118	160	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
low complexity region	211	232	N/A	INTRINSIC
low complexity region	239	257	N/A	INTRINSIC
POU	281	355	1.55e-52	SMART
low complexity region	356	372	N/A	INTRINSIC
HOX	382	444	2.54e-19	SMART
low complexity region	462	488	N/A	INTRINSIC
low complexity region	493	560	N/A	INTRINSIC
low complexity region	569	607	N/A	INTRINSIC
low complexity region	715	725	N/A	INTRINSIC
low complexity region	728	745	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160260
AA Change: S749P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: S749P

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	94	123	N/A	INTRINSIC
low complexity region	141	183	N/A	INTRINSIC
low complexity region	200	215	N/A	INTRINSIC
low complexity region	234	255	N/A	INTRINSIC
low complexity region	262	280	N/A	INTRINSIC
POU	304	378	1.55e-52	SMART
low complexity region	379	395	N/A	INTRINSIC
HOX	405	467	2.54e-19	SMART
low complexity region	485	511	N/A	INTRINSIC
low complexity region	542	607	N/A	INTRINSIC
low complexity region	616	654	N/A	INTRINSIC
low complexity region	762	772	N/A	INTRINSIC
low complexity region	775	792	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160908
AA Change: S725P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: S725P

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	94	123	N/A	INTRINSIC
low complexity region	141	183	N/A	INTRINSIC
low complexity region	200	215	N/A	INTRINSIC
low complexity region	234	255	N/A	INTRINSIC
low complexity region	262	280	N/A	INTRINSIC
POU	304	378	1.55e-52	SMART
low complexity region	379	395	N/A	INTRINSIC
HOX	405	467	2.54e-19	SMART
low complexity region	485	511	N/A	INTRINSIC
low complexity region	516	583	N/A	INTRINSIC
low complexity region	592	630	N/A	INTRINSIC
low complexity region	738	748	N/A	INTRINSIC
low complexity region	751	768	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161971

SMART Domains

Protein: ENSMUSP00000124297
Gene: ENSMUSG00000005763

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.5e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178336

SMART Domains

Protein: ENSMUSP00000136456
Gene: ENSMUSG00000005763

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.7e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184643

SMART Domains

Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565

Domain	Start	End	E-Value	Type
low complexity region	71	100	N/A	INTRINSIC
low complexity region	118	160	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
low complexity region	211	232	N/A	INTRINSIC
low complexity region	239	257	N/A	INTRINSIC
POU	281	355	6.7e-55	SMART
low complexity region	356	372	N/A	INTRINSIC
HOX	382	444	1.3e-21	SMART
low complexity region	462	488	N/A	INTRINSIC
low complexity region	493	560	N/A	INTRINSIC
low complexity region	569	607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184799

Predicted Effect

probably benign
Transcript: ENSMUST00000187313

SMART Domains

Protein: ENSMUSP00000140926
Gene: ENSMUSG00000005763

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	2.5e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART
low complexity region	195	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194366

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010]
PHENOTYPE: Homozygous mutation of this gene results in prenatal lethality, with earlier lethality on either a 129/Sv or C57BL/6 background than a mixed 129/Sv and C57BL/6 background. Embryos show decreased erythropoiesis and partial penetrance of small lens size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,454,717	P118S	probably damaging	Het
Adgrl1	T	A	8: 83,929,714	D215E	probably damaging	Het
Afap1l2	T	C	19: 56,914,482	D755G	probably damaging	Het
Akr1c18	T	A	13: 4,144,333	D109V	possibly damaging	Het
Brdt	G	A	5: 107,358,886	R445H	probably benign	Het
Capn2	C	A	1: 182,479,723	E517*	probably null	Het
Ccdc189	C	A	7: 127,587,987	V35L	probably benign	Het
Celsr1	A	T	15: 85,979,102	V1243E	possibly damaging	Het
Cenpe	C	G	3: 135,247,335		probably null	Het
Cep135	A	G	5: 76,630,970	E748G	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Col6a1	C	A	10: 76,709,909	A910S	unknown	Het
Cyp4a14	T	A	4: 115,489,959		probably null	Het
Dot1l	C	T	10: 80,783,544	R412W	probably damaging	Het
Dyrk2	T	C	10: 118,859,689	T555A	probably benign	Het
Foxn3	T	C	12: 99,196,328	N438S	probably damaging	Het
Gdpd5	T	C	7: 99,453,794	F320S	probably damaging	Het
Grn	A	G	11: 102,435,734	H413R	probably damaging	Het
Gstm7	A	T	3: 107,931,647	M3K	possibly damaging	Het
Il17rd	A	G	14: 27,100,336	E673G	probably damaging	Het
Klhl29	T	C	12: 5,137,500	D288G	possibly damaging	Het
Klk11	G	A	7: 43,776,997	A79T	probably benign	Het
Kmt2a	A	G	9: 44,808,062	V3914A	unknown	Het
Map2k2	T	C	10: 81,121,043	V307A	probably benign	Het
Mgea5	A	T	19: 45,776,062	L213H	probably damaging	Het
Mst1r	G	T	9: 107,907,120		probably benign	Het
Nr3c2	A	G	8: 77,210,646	E834G	probably damaging	Het
Ogfod3	T	G	11: 121,183,536		probably null	Het
Olfr1454	A	T	19: 13,064,059	Y216F	probably damaging	Het
Olfr924	T	C	9: 38,848,318	L68P	probably damaging	Het
Plscr4	A	T	9: 92,482,640		probably null	Het
Ppp4r3b	T	G	11: 29,205,701	L556V	possibly damaging	Het
Psd4	T	G	2: 24,401,096		probably null	Het
Rbbp4	T	C	4: 129,334,563	D33G	probably damaging	Het
Rif1	T	A	2: 52,085,141	M354K	probably damaging	Het
Rmi1	A	G	13: 58,409,253	K439E	probably benign	Het
Scgb2b7	A	G	7: 31,705,029		probably null	Het
Sdc1	A	G	12: 8,791,370	D237G	probably benign	Het
Sel1l3	T	C	5: 53,200,251	Y133C	probably damaging	Het
Snx31	A	G	15: 36,523,441		probably null	Het
Snx7	A	G	3: 117,838,839	F201S	probably damaging	Het
Tas2r131	C	T	6: 132,957,475	V124I	possibly damaging	Het
Tbx20	A	T	9: 24,740,285		probably null	Het
Topbp1	A	T	9: 103,320,557	N445I	probably damaging	Het
Tpx2	T	A	2: 152,867,343	I31K	possibly damaging	Het
Trpv3	T	A	11: 73,288,262	V499E	probably damaging	Het
Tshr	G	A	12: 91,533,969	W258*	probably null	Het
Usp32	G	T	11: 84,987,281	D1543E	probably damaging	Het
Usp39	A	G	6: 72,338,538		probably benign	Het
Vac14	T	C	8: 110,634,388	S197P	probably damaging	Het
Vars2	A	G	17: 35,660,943	S497P	probably damaging	Het
Zfp462	C	A	4: 55,008,637	P201Q	probably benign	Het
Zkscan5	A	G	5: 145,221,037	Q783R	possibly damaging	Het

Other mutations in Pou2f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Pou2f1	APN	1	165902298	missense	probably damaging	1.00
IGL00392:Pou2f1	APN	1	165896590	splice site	probably benign
IGL01627:Pou2f1	APN	1	165880433	unclassified	probably benign
IGL01707:Pou2f1	APN	1	165915116	missense	probably damaging	0.96
IGL02735:Pou2f1	APN	1	165875827	missense	probably damaging	1.00
IGL02740:Pou2f1	APN	1	165883116	nonsense	probably null
IGL03117:Pou2f1	APN	1	165934813	missense	probably benign	0.00
IGL03272:Pou2f1	APN	1	165896480	missense	possibly damaging	0.67
R0021:Pou2f1	UTSW	1	165876018	missense	probably damaging	1.00
R1437:Pou2f1	UTSW	1	165891830	missense	probably damaging	0.98
R2171:Pou2f1	UTSW	1	165880356	unclassified	probably benign
R3722:Pou2f1	UTSW	1	165894969	missense	probably damaging	1.00
R3789:Pou2f1	UTSW	1	165894969	missense	probably damaging	1.00
R3790:Pou2f1	UTSW	1	165894969	missense	probably damaging	1.00
R3901:Pou2f1	UTSW	1	165894969	missense	probably damaging	1.00
R4225:Pou2f1	UTSW	1	165911320	missense	possibly damaging	0.79
R4459:Pou2f1	UTSW	1	165895006	missense	probably damaging	1.00
R4460:Pou2f1	UTSW	1	165895006	missense	probably damaging	1.00
R4573:Pou2f1	UTSW	1	165913261	missense	probably benign	0.29
R4820:Pou2f1	UTSW	1	165891948	intron	probably benign
R4838:Pou2f1	UTSW	1	165916923	missense	probably null	1.00
R5579:Pou2f1	UTSW	1	165915162	missense	probably damaging	1.00
R5856:Pou2f1	UTSW	1	165915130	missense	probably benign	0.14
R5951:Pou2f1	UTSW	1	165883056	unclassified	probably benign
R6128:Pou2f1	UTSW	1	165875487	unclassified	probably benign
R6145:Pou2f1	UTSW	1	165875433	unclassified	probably benign
R6216:Pou2f1	UTSW	1	165880320	unclassified	probably benign
R6971:Pou2f1	UTSW	1	165931689	missense	probably damaging	0.98
R7052:Pou2f1	UTSW	1	165915115	missense	possibly damaging	0.59
R7403:Pou2f1	UTSW	1	165911386	missense	unknown
R7404:Pou2f1	UTSW	1	165911386	missense	unknown
R8011:Pou2f1	UTSW	1	165894903	critical splice donor site	probably null
R8478:Pou2f1	UTSW	1	165931718	start codon destroyed	probably null
R8804:Pou2f1	UTSW	1	165880470	missense	unknown
R8892:Pou2f1	UTSW	1	165880458	missense	unknown
R9126:Pou2f1	UTSW	1	165895034	missense	unknown
R9469:Pou2f1	UTSW	1	165913261	missense	probably benign	0.29
RF012:Pou2f1	UTSW	1	165913231	missense	unknown
X0022:Pou2f1	UTSW	1	165896456	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCCTGTAGTGAGGAAAGCC -3'
(R):5'- GGCACACTCTGCTACTGAGTAG -3'

Sequencing Primer
(F):5'- CTGTGGCAACCCAGCTCTG -3'
(R):5'- CTGCTACTGAGTAGGAGTTAGC -3'

Posted On

2019-11-26