Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02735:Pou2f1'

305614

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 #

IGL02735

Quality Score

Status

Chromosome

Chromosomal Location

165692723-165830247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165703396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 718 (S718P)

Ref Sequence

ENSEMBL: ENSMUSP00000107057 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027850
AA Change: S678P

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

SMART Domains

Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: S678P

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: S730P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: S730P

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

unknown
Transcript: ENSMUST00000111426
AA Change: S730P

SMART Domains

Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: S730P

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: S754P

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

SMART Domains

Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: S754P

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: S718P

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

SMART Domains

Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: S718P

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: ENSMUST00000160908
AA Change: S741P

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

SMART Domains

Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: S741P

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 damaging
Transcript: ENSMUST00000160260
AA Change: S765P

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

SMART Domains

Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: S765P

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: 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: ENSMUST00000162411

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

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: ENSMUST00000194366

Predicted Effect

probably benign
Transcript: ENSMUST00000184799

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: 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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
Acss1	A	T	2: 150,480,387 (GRCm39)	V228E	probably damaging	Het
Ampd1	T	A	3: 102,992,693 (GRCm39)	M145K	probably damaging	Het
Ankhd1	G	A	18: 36,781,599 (GRCm39)	S2217N	probably benign	Het
Asph	T	A	4: 9,598,759 (GRCm39)	D211V	probably damaging	Het
Cd55b	A	T	1: 130,316,413 (GRCm39)	W379R	probably damaging	Het
Derl3	A	G	10: 75,730,950 (GRCm39)	T201A	probably damaging	Het
Efcab6	A	G	15: 83,783,898 (GRCm39)	L1008P	probably damaging	Het
Eif4g3	A	G	4: 137,853,522 (GRCm39)	I363V	probably benign	Het
Heatr5a	A	G	12: 51,961,804 (GRCm39)	F1058L	probably damaging	Het
Hmcn1	A	T	1: 150,522,583 (GRCm39)	M3439K	probably benign	Het
Ift140	C	A	17: 25,253,009 (GRCm39)		probably benign	Het
Itgad	A	G	7: 127,792,888 (GRCm39)	Y832C	probably damaging	Het
Itgb2	T	A	10: 77,385,833 (GRCm39)	D265E	possibly damaging	Het
Kif19a	A	T	11: 114,676,393 (GRCm39)	E449V	probably damaging	Het
Krt40	T	C	11: 99,429,461 (GRCm39)	E291G	probably damaging	Het
Lama2	T	C	10: 26,980,124 (GRCm39)	N1897S	probably damaging	Het
Lepr	A	G	4: 101,639,835 (GRCm39)	Y767C	probably damaging	Het
Lrrtm4	A	G	6: 80,786,031 (GRCm39)	H546R	probably benign	Het
Marchf6	A	G	15: 31,486,266 (GRCm39)	S362P	probably benign	Het
Med12l	A	G	3: 59,001,067 (GRCm39)	Y734C	probably damaging	Het
Mrps18a	C	T	17: 46,433,725 (GRCm39)	R74C	probably damaging	Het
Mvk	A	G	5: 114,588,880 (GRCm39)	E174G	probably benign	Het
Naip2	A	G	13: 100,296,722 (GRCm39)	S1105P	probably damaging	Het
Nrxn3	A	G	12: 89,221,624 (GRCm39)	M468V	probably benign	Het
Obscn	T	C	11: 58,984,175 (GRCm39)	E1760G	probably damaging	Het
Pcsk5	C	A	19: 17,652,832 (GRCm39)	G285W	probably damaging	Het
Pgpep1l	A	G	7: 67,886,721 (GRCm39)	I196T	probably benign	Het
Phf14	T	C	6: 11,987,611 (GRCm39)	M630T	probably benign	Het
Plod2	T	C	9: 92,477,442 (GRCm39)		probably benign	Het
Poldip2	G	A	11: 78,403,162 (GRCm39)	A9T	probably benign	Het
Pramel34	G	A	5: 93,786,503 (GRCm39)	P89S	possibly damaging	Het
Ptpre	A	T	7: 135,269,296 (GRCm39)	Y246F	probably damaging	Het
Pudp	T	C	18: 50,701,403 (GRCm39)	H110R	probably benign	Het
Scaf4	C	T	16: 90,042,403 (GRCm39)	G646E	unknown	Het
Sec16a	T	A	2: 26,318,149 (GRCm39)		probably benign	Het
Serpina5	A	G	12: 104,070,116 (GRCm39)	T338A	probably benign	Het
Shisa5	T	G	9: 108,885,080 (GRCm39)	F118V	probably damaging	Het
Slc6a21	G	A	7: 44,936,061 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,630,126 (GRCm39)	V473E	probably benign	Het
Styxl1	A	G	5: 135,787,996 (GRCm39)	I165T	probably damaging	Het
Tal2	T	A	4: 53,785,906 (GRCm39)	I29N	probably damaging	Het
Tas2r134	T	C	2: 51,517,839 (GRCm39)	I106T	probably damaging	Het
Tmem259	G	A	10: 79,814,973 (GRCm39)	T217I	probably damaging	Het
Trpc6	T	C	9: 8,655,339 (GRCm39)	I723T	probably damaging	Het
Vmn1r211	A	T	13: 23,036,418 (GRCm39)	V83D	probably damaging	Het
Vmn2r103	G	T	17: 20,032,510 (GRCm39)	M761I	probably benign	Het
Ybey	A	T	10: 76,304,160 (GRCm39)	I14N	probably 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
IGL02740:Pou2f1	APN	1	165,710,685 (GRCm39)	nonsense	probably null
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