Mutagenetix > Incidental Mutations

Incidental Mutation 'R1437:Pou2f1'

161267

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

039492-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1437 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

165865154-166002678 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165891830 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 504 (V504A)

Ref Sequence

ENSEMBL: ENSMUSP00000107055 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000027850
AA Change: V452A

SMART Domains

Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: V452A

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

unknown
Transcript: ENSMUST00000069609
AA Change: V504A

SMART Domains

Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: V504A

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

noncoding transcript
Transcript: ENSMUST00000082225

SMART Domains

Protein: ENSMUSP00000080856
Gene: ENSMUSG00000026565

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
POU	233	309	4.88e-27	SMART
low complexity region	310	326	N/A	INTRINSIC
HOX	336	398	2.54e-19	SMART
low complexity region	416	442	N/A	INTRINSIC
low complexity region	447	514	N/A	INTRINSIC
low complexity region	523	561	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111426
AA Change: V504A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: V504A

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

unknown
Transcript: ENSMUST00000111427
AA Change: V504A

SMART Domains

Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: V504A

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

unknown
Transcript: ENSMUST00000111429
AA Change: V492A

SMART Domains

Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: V492A

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

unknown
Transcript: ENSMUST00000159212
AA Change: V399A

SMART Domains

Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565
AA Change: V399A

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

unknown
Transcript: ENSMUST00000160260
AA Change: V515A

SMART Domains

Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: V515A

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

unknown
Transcript: ENSMUST00000160908
AA Change: V515A

SMART Domains

Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: V515A

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

noncoding transcript
Transcript: ENSMUST00000176004

SMART Domains

Protein: ENSMUSP00000135153
Gene: ENSMUSG00000026565

Domain	Start	End	E-Value	Type
low complexity region	3	41	N/A	INTRINSIC
low complexity region	149	159	N/A	INTRINSIC
low complexity region	162	179	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176942

SMART Domains

Protein: ENSMUSP00000135052
Gene: ENSMUSG00000026565

Domain	Start	End	E-Value	Type
low complexity region	65	94	N/A	INTRINSIC
low complexity region	112	154	N/A	INTRINSIC
low complexity region	171	186	N/A	INTRINSIC
low complexity region	205	226	N/A	INTRINSIC
low complexity region	233	251	N/A	INTRINSIC
POU	275	349	1.55e-52	SMART
low complexity region	350	366	N/A	INTRINSIC
HOX	376	438	2.54e-19	SMART
low complexity region	456	482	N/A	INTRINSIC
low complexity region	487	554	N/A	INTRINSIC
low complexity region	563	601	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177472

Predicted Effect

unknown
Transcript: ENSMUST00000184643
AA Change: V492A

SMART Domains

Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565
AA Change: V492A

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,942,429	H1097N	possibly damaging	Het
Abcb1b	T	A	5: 8,821,436	V330E	possibly damaging	Het
Abcb5	A	G	12: 118,874,762	S1022P	probably damaging	Het
Abcc8	A	G	7: 46,179,813	I46T	probably damaging	Het
Add3	A	G	19: 53,233,678	R275G	probably damaging	Het
Akap1	C	A	11: 88,844,751	G362*	probably null	Het
Arhgef4	A	G	1: 34,723,945	T761A	unknown	Het
Asap1	A	T	15: 64,120,107	L751Q	probably damaging	Het
Atg2a	C	A	19: 6,250,616	P741H	probably damaging	Het
Atxn10	T	C	15: 85,359,474	I46T	possibly damaging	Het
BC049715	C	A	6: 136,840,092	A110E	probably damaging	Het
Btbd7	T	A	12: 102,788,090	T806S	possibly damaging	Het
Cdk4	C	A	10: 127,064,689	P108H	probably damaging	Het
Cep290	A	G	10: 100,572,101	T2391A	probably benign	Het
Col6a3	G	T	1: 90,801,376	A1281E	probably damaging	Het
Cpa5	A	T	6: 30,624,655	I165F	probably damaging	Het
Ctdp1	G	T	18: 80,450,213	Q356K	probably benign	Het
Ddx21	A	G	10: 62,598,590	M130T	unknown	Het
Epha5	T	G	5: 84,233,696	D432A	probably damaging	Het
Esr1	ACGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACGCCGCCGCCGCCGCCGCCGCCGCC	10: 4,712,571		probably benign	Het
Fads2	A	T	19: 10,091,829	L77Q	probably benign	Het
Fbn2	A	T	18: 58,053,659	H1723Q	possibly damaging	Het
Fbxo42	C	T	4: 141,167,854	H43Y	probably benign	Het
Fry	A	G	5: 150,310,425	T121A	possibly damaging	Het
Gpr156	T	G	16: 37,988,542	S209A	probably damaging	Het
Hey2	T	C	10: 30,833,849	T303A	probably benign	Het
Hivep1	T	A	13: 42,157,140	M952K	probably benign	Het
Hrasls	C	A	16: 29,228,170	A147E	possibly damaging	Het
Hydin	C	T	8: 110,581,985	Q3968*	probably null	Het
Jup	T	C	11: 100,383,576	E96G	probably benign	Het
Kcnn1	A	G	8: 70,844,551	I504T	probably benign	Het
Klk1b9	T	C	7: 43,979,690	V174A	probably damaging	Het
Lama3	G	C	18: 12,549,227	M1083I	possibly damaging	Het
Lcmt2	A	G	2: 121,138,896	S569P	probably benign	Het
Lrfn2	T	C	17: 49,071,225	S445P	probably damaging	Het
Lrp3	C	A	7: 35,213,170	G31W	probably damaging	Het
Lrrc8b	T	C	5: 105,481,702	L638P	probably damaging	Het
Mief2	C	T	11: 60,730,943	T113M	probably benign	Het
Mrps2	T	C	2: 28,468,887	F76S	probably damaging	Het
Naca	A	G	10: 128,042,179		probably benign	Het
Ndst4	C	A	3: 125,561,450	R336S	probably damaging	Het
Nr1i3	CACTCAACACTAC	CAC	1: 171,217,141		probably null	Het
Nr5a1	T	A	2: 38,710,673	T29S	probably benign	Het
Olfr1111	C	T	2: 87,149,771	V297M	possibly damaging	Het
Olfr993	T	C	2: 85,414,874	I2V	probably benign	Het
Pald1	A	G	10: 61,341,285	F662S	possibly damaging	Het
Pdcd4	G	T	19: 53,909,243	A59S	probably damaging	Het
Pde4a	T	C	9: 21,192,592		probably null	Het
Pkd1	T	A	17: 24,595,132	S4159T	probably damaging	Het
Plch1	C	A	3: 63,697,533	R1641L	probably benign	Het
Plec	G	T	15: 76,189,281	P308Q	probably damaging	Het
Pnkp	A	G	7: 44,860,402	S262G	possibly damaging	Het
Prepl	G	A	17: 85,088,357	R66W	probably damaging	Het
Rasgrf2	T	C	13: 92,030,888	K226E	probably damaging	Het
Ror1	T	A	4: 100,412,109	F381L	probably benign	Het
Sbsn	C	T	7: 30,753,053	Q498*	probably null	Het
Scgb2b19	T	C	7: 33,278,555	I106V	probably benign	Het
Sf3a2	G	A	10: 80,804,206		probably benign	Het
Sis	T	C	3: 72,934,142	H780R	probably damaging	Het
Slc28a3	G	T	13: 58,558,575	C617*	probably null	Het
Slc44a1	T	A	4: 53,561,006	V574D	probably damaging	Het
Slc8a3	T	A	12: 81,315,986	T20S	probably damaging	Het
Stt3b	T	A	9: 115,254,927	I394F	probably damaging	Het
Ubap1l	T	A	9: 65,372,055	V212D	possibly damaging	Het
Ugt2b35	T	C	5: 87,001,031	V47A	probably benign	Het
Vmn2r114	A	G	17: 23,291,211	F765S	probably damaging	Het
Vps50	C	T	6: 3,517,852	Q97*	probably null	Het
Vsig10	A	G	5: 117,351,570	Q467R	probably damaging	Het
Wdsub1	T	G	2: 59,878,133	Y11S	probably damaging	Het
Zbtb11	T	G	16: 55,991,620		probably null	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
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
R7741:Pou2f1	UTSW	1	165875875	missense	probably damaging	0.98
R8011:Pou2f1	UTSW	1	165894903	critical splice donor site	probably null
R8478:Pou2f1	UTSW	1	165931718	start codon destroyed	probably null
RF012:Pou2f1	UTSW	1	165913231	missense	unknown
X0022:Pou2f1	UTSW	1	165896456	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAACCTCCCTAGAGCCATAGTCAT -3'
(R):5'- GGTAGGTGGGTAGATTCTCCCACAA -3'

Sequencing Primer
(F):5'- ccctagagccatAGTCATACAGTAAG -3'
(R):5'- TTCTTGTCTCACCTCTAGGTGG -3'

Posted On

2014-03-14