Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Pou2f1'

305854

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pou2f1

Ensembl Gene

ENSMUSG00000026565

Gene Name

POU domain, class 2, transcription factor 1

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

165692723-165830247 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 165710685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 523 (Q523*)

Ref Sequence

ENSEMBL: ENSMUSP00000124738 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000111426
AA Change: Q512*

SMART Domains

Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: Q512*

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 null
Transcript: ENSMUST00000111427
AA Change: Q512*

SMART Domains

Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: Q512*

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

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 null
Transcript: ENSMUST00000160260
AA Change: Q523*

SMART Domains

Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: Q523*

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

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: 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

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: 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: ENSMUST00000194366

Coding Region Coverage

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	C	T	1: 59,209,078 (GRCm39)	E1494K	probably benign	Het
Antxr2	A	G	5: 98,178,251 (GRCm39)		probably benign	Het
Arhgap23	A	C	11: 97,365,843 (GRCm39)	K998Q	probably damaging	Het
Bap1	A	G	14: 30,978,729 (GRCm39)	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,278,501 (GRCm39)	I156T	probably damaging	Het
Ccdc141	T	C	2: 76,884,953 (GRCm39)	T563A	probably benign	Het
Cct7	T	C	6: 85,445,252 (GRCm39)	F501S	probably benign	Het
Cd59b	A	G	2: 103,909,242 (GRCm39)	I8V	probably benign	Het
Cep135	T	C	5: 76,786,115 (GRCm39)		probably null	Het
Cep170	T	G	1: 176,621,166 (GRCm39)	T4P	probably damaging	Het
Chaf1a	G	T	17: 56,374,500 (GRCm39)	G896W	probably damaging	Het
Cpt1b	A	T	15: 89,308,535 (GRCm39)	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,008,495 (GRCm39)	R366*	probably null	Het
Ddr2	A	T	1: 169,812,514 (GRCm39)	N659K	probably damaging	Het
Dmrt2	C	A	19: 25,655,837 (GRCm39)	L479I	possibly damaging	Het
Dnah10	A	G	5: 124,903,927 (GRCm39)		probably benign	Het
Dsg3	C	T	18: 20,660,765 (GRCm39)	T368M	possibly damaging	Het
Dspp	C	A	5: 104,325,104 (GRCm39)	S489*	probably null	Het
Eed	A	C	7: 89,621,464 (GRCm39)	V112G	possibly damaging	Het
Ehmt1	T	A	2: 24,705,851 (GRCm39)		probably benign	Het
Elavl3	T	C	9: 21,947,675 (GRCm39)	D89G	probably benign	Het
Ercc5	T	C	1: 44,206,652 (GRCm39)	S522P	probably benign	Het
Esrrg	T	C	1: 187,930,938 (GRCm39)	L320P	probably benign	Het
Gadl1	T	A	9: 115,835,629 (GRCm39)	Y352*	probably null	Het
Gemin5	G	A	11: 58,042,390 (GRCm39)	A477V	probably damaging	Het
Gm3086	A	T	12: 70,016,095 (GRCm39)		probably benign	Het
Gm8082	C	T	14: 42,846,570 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,377,161 (GRCm39)	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,230,585 (GRCm39)	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,561,100 (GRCm39)	S107P	probably damaging	Het
Irak4	T	C	15: 94,464,925 (GRCm39)	*460Q	probably null	Het
Nfkbiz	G	T	16: 55,638,317 (GRCm39)	T381N	probably benign	Het
Or1e25	A	T	11: 73,493,657 (GRCm39)	N84Y	probably benign	Het
Or5d39	T	A	2: 87,979,601 (GRCm39)	H254L	probably damaging	Het
Or8b46	T	C	9: 38,450,226 (GRCm39)	F12L	probably damaging	Het
Or8g23	T	C	9: 38,971,585 (GRCm39)	I126V	probably benign	Het
Ptcra	A	G	17: 47,069,473 (GRCm39)	S133P	probably damaging	Het
Ptgfrn	A	T	3: 100,980,253 (GRCm39)	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,536,121 (GRCm39)	D19V	probably damaging	Het
Rnf4	T	A	5: 34,506,898 (GRCm39)	V74D	possibly damaging	Het
Rprd1b	A	G	2: 157,889,899 (GRCm39)	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,278,305 (GRCm39)	T659A	probably damaging	Het
Scaf11	T	C	15: 96,316,883 (GRCm39)	N894D	probably benign	Het
Scn1a	G	A	2: 66,155,106 (GRCm39)	R618C	probably damaging	Het
Scn1a	A	T	2: 66,148,421 (GRCm39)	D1041E	probably benign	Het
Slc43a1	G	T	2: 84,690,094 (GRCm39)	A424S	probably damaging	Het
Sprtn	T	C	8: 125,625,042 (GRCm39)	L49P	probably damaging	Het
Sv2a	G	T	3: 96,092,723 (GRCm39)	R141L	possibly damaging	Het
Thsd7b	C	T	1: 129,540,864 (GRCm39)	S246F	probably damaging	Het
Tmem117	A	T	15: 94,612,863 (GRCm39)	D133V	probably benign	Het
Tnn	A	T	1: 159,968,347 (GRCm39)		probably benign	Het
Triobp	G	A	15: 78,850,889 (GRCm39)	V348I	probably benign	Het
Trps1	A	T	15: 50,709,935 (GRCm39)	D134E	probably damaging	Het
Ttn	T	C	2: 76,598,162 (GRCm39)	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,725,006 (GRCm39)	H178R	probably damaging	Het
Ush2a	A	T	1: 188,380,585 (GRCm39)	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 84,785,818 (GRCm39)	I729T	probably damaging	Het
Vmn2r79	A	T	7: 86,653,366 (GRCm39)	M544L	probably benign	Het
Vps41	T	A	13: 19,022,850 (GRCm39)	L404Q	probably damaging	Het
Xrcc5	T	G	1: 72,379,240 (GRCm39)		probably null	Het
Zfp735	A	G	11: 73,601,412 (GRCm39)	K119E	possibly damaging	Het

Other mutations in Pou2f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Pou2f1	APN	1	165,729,867 (GRCm39)	missense	probably damaging	1.00
IGL00392:Pou2f1	APN	1	165,724,159 (GRCm39)	splice site	probably benign
IGL01627:Pou2f1	APN	1	165,708,002 (GRCm39)	unclassified	probably benign
IGL01707:Pou2f1	APN	1	165,742,685 (GRCm39)	missense	probably damaging	0.96
IGL02735:Pou2f1	APN	1	165,703,396 (GRCm39)	missense	probably damaging	1.00
IGL03117:Pou2f1	APN	1	165,762,382 (GRCm39)	missense	probably benign	0.00
IGL03272:Pou2f1	APN	1	165,724,049 (GRCm39)	missense	possibly damaging	0.67
R0021:Pou2f1	UTSW	1	165,703,587 (GRCm39)	missense	probably damaging	1.00
R1437:Pou2f1	UTSW	1	165,719,399 (GRCm39)	missense	probably damaging	0.98
R2171:Pou2f1	UTSW	1	165,707,925 (GRCm39)	unclassified	probably benign
R3722:Pou2f1	UTSW	1	165,722,538 (GRCm39)	missense	probably damaging	1.00
R3789:Pou2f1	UTSW	1	165,722,538 (GRCm39)	missense	probably damaging	1.00
R3790:Pou2f1	UTSW	1	165,722,538 (GRCm39)	missense	probably damaging	1.00
R3901:Pou2f1	UTSW	1	165,722,538 (GRCm39)	missense	probably damaging	1.00
R4225:Pou2f1	UTSW	1	165,738,889 (GRCm39)	missense	possibly damaging	0.79
R4459:Pou2f1	UTSW	1	165,722,575 (GRCm39)	missense	probably damaging	1.00
R4460:Pou2f1	UTSW	1	165,722,575 (GRCm39)	missense	probably damaging	1.00
R4573:Pou2f1	UTSW	1	165,740,830 (GRCm39)	missense	probably benign	0.29
R4820:Pou2f1	UTSW	1	165,719,517 (GRCm39)	intron	probably benign
R4838:Pou2f1	UTSW	1	165,744,492 (GRCm39)	missense	probably null	1.00
R5579:Pou2f1	UTSW	1	165,742,731 (GRCm39)	missense	probably damaging	1.00
R5856:Pou2f1	UTSW	1	165,742,699 (GRCm39)	missense	probably benign	0.14
R5951:Pou2f1	UTSW	1	165,710,625 (GRCm39)	unclassified	probably benign
R6128:Pou2f1	UTSW	1	165,703,056 (GRCm39)	unclassified	probably benign
R6145:Pou2f1	UTSW	1	165,703,002 (GRCm39)	unclassified	probably benign
R6216:Pou2f1	UTSW	1	165,707,889 (GRCm39)	unclassified	probably benign
R6971:Pou2f1	UTSW	1	165,759,258 (GRCm39)	missense	probably damaging	0.98
R7052:Pou2f1	UTSW	1	165,742,684 (GRCm39)	missense	possibly damaging	0.59
R7403:Pou2f1	UTSW	1	165,738,955 (GRCm39)	missense	unknown
R7404:Pou2f1	UTSW	1	165,738,955 (GRCm39)	missense	unknown
R7741:Pou2f1	UTSW	1	165,703,444 (GRCm39)	missense	probably damaging	0.98
R8011:Pou2f1	UTSW	1	165,722,472 (GRCm39)	critical splice donor site	probably null
R8478:Pou2f1	UTSW	1	165,759,287 (GRCm39)	start codon destroyed	probably null
R8804:Pou2f1	UTSW	1	165,708,039 (GRCm39)	missense	unknown
R8892:Pou2f1	UTSW	1	165,708,027 (GRCm39)	missense	unknown
R9126:Pou2f1	UTSW	1	165,722,603 (GRCm39)	missense	unknown
R9151:Pou2f1	UTSW	1	165,703,640 (GRCm39)	intron	probably benign
R9469:Pou2f1	UTSW	1	165,740,830 (GRCm39)	missense	probably benign	0.29
R9665:Pou2f1	UTSW	1	165,703,600 (GRCm39)	missense	probably damaging	0.99
RF012:Pou2f1	UTSW	1	165,740,800 (GRCm39)	missense	unknown
X0022:Pou2f1	UTSW	1	165,724,025 (GRCm39)	nonsense	probably null

Posted On

2015-04-16