Mutagenetix > Incidental Mutation

Incidental Mutation 'R3790:Pou2f1'

272468

Institutional Source

Beutler Lab

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 #

R3790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165692723-165830247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 165722538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 349 (P349R)

Ref Sequence

ENSEMBL: ENSMUSP00000125371 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000027850
AA Change: P402R

SMART Domains

Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: P402R

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: P454R

SMART Domains

Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: P454R

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: P454R

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

SMART Domains

Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: P454R

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: P454R

SMART Domains

Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: P454R

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: P442R

SMART Domains

Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: P442R

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 damaging
Transcript: ENSMUST00000159212
AA Change: P349R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565
AA Change: P349R

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: P465R

SMART Domains

Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: P465R

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: ENSMUST00000177472

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

unknown
Transcript: ENSMUST00000184643
AA Change: P442R

SMART Domains

Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565
AA Change: P442R

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: ENSMUST00000160908
AA Change: P465R

SMART Domains

Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: P465R

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

Meta Mutation Damage Score

0.2686

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (47/48)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	G	A	17: 13,147,460 (GRCm39)	Q186*	probably null	Het
Alk	A	G	17: 72,910,427 (GRCm39)	L93P	possibly damaging	Het
Ankrd24	C	T	10: 81,478,513 (GRCm39)		probably benign	Het
Anks6	A	T	4: 47,049,212 (GRCm39)	V231E	probably damaging	Het
Ap5z1	C	T	5: 142,456,168 (GRCm39)	S329L	probably benign	Het
Asic4	C	A	1: 75,446,485 (GRCm39)		probably benign	Het
Cemip2	T	G	19: 21,784,816 (GRCm39)	I433S	probably damaging	Het
Cers4	C	A	8: 4,568,285 (GRCm39)	Q113K	possibly damaging	Het
Ces3b	A	T	8: 105,813,520 (GRCm39)	I264F	possibly damaging	Het
Cops3	T	C	11: 59,718,797 (GRCm39)	M166V	probably benign	Het
Corin	T	C	5: 72,592,641 (GRCm39)	Q184R	probably benign	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Gm53	T	C	11: 96,142,477 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,498,745 (GRCm39)	S4045P	probably benign	Het
Kif22	A	G	7: 126,628,668 (GRCm39)	L480P	probably damaging	Het
Lepr	A	T	4: 101,648,111 (GRCm39)		probably benign	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Lnx1	A	G	5: 74,789,027 (GRCm39)		probably benign	Het
Lrsam1	T	C	2: 32,848,171 (GRCm39)	E43G	probably null	Het
Mug1	G	A	6: 121,861,587 (GRCm39)	V1350I	probably benign	Het
Nbea	T	A	3: 55,912,450 (GRCm39)	E1112D	probably benign	Het
Nepn	T	A	10: 52,276,626 (GRCm39)	L60I	probably damaging	Het
Oas1e	T	C	5: 120,933,475 (GRCm39)	E30G	probably damaging	Het
Or4c122	A	G	2: 89,079,337 (GRCm39)	F234L	probably benign	Het
Or4k5	A	C	14: 50,386,026 (GRCm39)	F102V	possibly damaging	Het
Prmt8	A	T	6: 127,688,110 (GRCm39)	I236N	probably damaging	Het
Psg23	C	A	7: 18,346,126 (GRCm39)	V190L	probably benign	Het
Psg29	A	G	7: 16,938,950 (GRCm39)	K75E	possibly damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Rgs4	A	G	1: 169,571,991 (GRCm39)	S103P	probably damaging	Het
Sis	T	C	3: 72,828,747 (GRCm39)	Y1144C	probably damaging	Het
Slc16a14	T	C	1: 84,907,001 (GRCm39)		probably benign	Het
Snrnp35	T	A	5: 124,628,248 (GRCm39)	D20E	probably damaging	Het
Syce1l	C	A	8: 114,369,897 (GRCm39)	A10E	possibly damaging	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem212	T	C	3: 27,940,594 (GRCm39)		probably null	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	C	A	2: 76,568,471 (GRCm39)	C27474F	probably damaging	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vars1	A	G	17: 35,218,310 (GRCm39)	V48A	probably benign	Het
Vmn2r1	T	C	3: 63,994,185 (GRCm39)		probably null	Het
Washc2	A	G	6: 116,224,933 (GRCm39)		probably benign	Het
Zfp943	A	G	17: 22,211,403 (GRCm39)	D163G	possibly damaging	Het
Zmym5	T	C	14: 57,031,230 (GRCm39)	Y626C	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
IGL02735:Pou2f1	APN	1	165,703,396 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCAGTTCACAATGACAGATTTT -3'
(R):5'- CCAGCATGGCAAATATATAACATGAAA -3'

Sequencing Primer
(F):5'- AGATCTAAATGTGAGCTCGCTGC -3'
(R):5'- CTCGGAAGACATCACCTT -3'

Posted On

2015-03-25