Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Pou2f1'

488784

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

044292-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165865154-166002678 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 165875433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027850

SMART Domains

Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565

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 benign
Transcript: ENSMUST00000069609

SMART Domains

Protein: ENSMUSP00000064000
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
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 benign
Transcript: ENSMUST00000111426

SMART Domains

Protein: ENSMUSP00000107055
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
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 benign
Transcript: ENSMUST00000111427

SMART Domains

Protein: ENSMUSP00000107056
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
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 benign
Transcript: ENSMUST00000111429

SMART Domains

Protein: ENSMUSP00000107057
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

unknown
Transcript: ENSMUST00000159212
AA Change: T579A

SMART Domains

Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565
AA Change: T579A

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 benign
Transcript: ENSMUST00000160260

SMART Domains

Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565

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 benign
Transcript: ENSMUST00000160908

SMART Domains

Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565

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

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: ENSMUST00000162411

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: 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

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: ENSMUST00000184799

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
4930402H24Rik	T	C	2: 130,778,473	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Ep400	A	T	5: 110,756,703	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381	S525N	unknown	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637		probably null	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbc1d24	C	A	17: 24,208,229	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	probably 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
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
R8804:Pou2f1	UTSW	1	165880470	missense	unknown
R8892:Pou2f1	UTSW	1	165880458	missense	unknown
R9126:Pou2f1	UTSW	1	165895034	missense	unknown
R9151:Pou2f1	UTSW	1	165876071	intron	probably benign
R9469:Pou2f1	UTSW	1	165913261	missense	probably benign	0.29
R9665:Pou2f1	UTSW	1	165876031	missense	probably damaging	0.99
RF012:Pou2f1	UTSW	1	165913231	missense	unknown
X0022:Pou2f1	UTSW	1	165896456	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACCTTGTTATGACTTAATGGTCTG -3'
(R):5'- TCCTCCCACCATGTTGTGAG -3'

Sequencing Primer
(F):5'- TGTTATGACTTAATGGTCTGTACAAC -3'
(R):5'- CCACCATGTTGTGAGGAGGAAG -3'

Posted On

2017-10-10