Mutagenetix > Incidental Mutation

Incidental Mutation 'R8892:Pou2f1'

677727

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

MMRRC Submission

068695-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165692723-165830247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165708027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 552 (S552T)

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

unknown
Transcript: ENSMUST00000027850
AA Change: S465T

SMART Domains

Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: S465T

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: S517T

SMART Domains

Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: S517T

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

unknown
Transcript: ENSMUST00000111426
AA Change: S541T

SMART Domains

Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: S541T

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: S541T

SMART Domains

Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: S541T

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: S505T

SMART Domains

Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: S505T

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: S412T

SMART Domains

Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565
AA Change: S412T

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: S552T

SMART Domains

Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: S552T

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: S528T

SMART Domains

Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: S528T

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

unknown
Transcript: ENSMUST00000184643
AA Change: S505T

SMART Domains

Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565
AA Change: S505T

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,815,606 (GRCm39)	L285I	probably damaging	Het
Abcc2	T	G	19: 43,795,571 (GRCm39)	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Adpgk	A	G	9: 59,217,623 (GRCm39)	Y212C	probably damaging	Het
Ahcyl1	C	T	3: 107,579,378 (GRCm39)	D219N	probably benign	Het
Ap3b1	G	A	13: 94,679,348 (GRCm39)	V997M	unknown	Het
Bbs1	A	C	19: 4,942,954 (GRCm39)	S479A	probably benign	Het
Bean1	A	T	8: 104,943,610 (GRCm39)	D231V	probably damaging	Het
Cacnb1	A	T	11: 97,901,192 (GRCm39)	V220E	probably damaging	Het
Camkv	C	T	9: 107,823,333 (GRCm39)	R120*	probably null	Het
Ccny	T	G	18: 9,345,235 (GRCm39)	S180R	probably damaging	Het
Cdh23	G	T	10: 60,143,284 (GRCm39)	H3012Q	probably damaging	Het
Chd9	A	G	8: 91,660,468 (GRCm39)	N476S	unknown	Het
Clasp2	T	A	9: 113,709,251 (GRCm39)	L680Q	probably damaging	Het
Clip1	A	T	5: 123,717,565 (GRCm39)	S1241R	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Csmd3	T	A	15: 47,604,634 (GRCm39)	K1036N		Het
Ctnna1	G	A	18: 35,372,586 (GRCm39)	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,993,556 (GRCm39)	I852S	probably benign	Het
Dhrs1	G	A	14: 55,977,404 (GRCm39)	A238V	possibly damaging	Het
Echs1	A	C	7: 139,688,031 (GRCm39)	L258R	probably damaging	Het
Epha8	G	T	4: 136,661,850 (GRCm39)	H582N	probably benign	Het
Fhod3	G	A	18: 25,189,452 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr179	T	C	11: 97,226,590 (GRCm39)	D1855G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ipo9	T	C	1: 135,314,544 (GRCm39)	N904S	possibly damaging	Het
Itih3	A	G	14: 30,637,635 (GRCm39)	V508A	probably benign	Het
Klhl14	T	G	18: 21,691,220 (GRCm39)	T437P	possibly damaging	Het
Krt5	T	C	15: 101,619,185 (GRCm39)	M268V	probably benign	Het
Lama4	T	A	10: 38,973,194 (GRCm39)	L1587Q	probably damaging	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Lrfn2	A	C	17: 49,377,376 (GRCm39)	E152D	probably damaging	Het
Ltn1	A	T	16: 87,229,230 (GRCm39)		probably benign	Het
Ly9	A	T	1: 171,421,465 (GRCm39)	D595E	possibly damaging	Het
Macf1	A	G	4: 123,249,036 (GRCm39)	L7165P	probably damaging	Het
Magi3	C	T	3: 103,958,141 (GRCm39)	G648D	probably damaging	Het
Mgll	T	A	6: 88,743,306 (GRCm39)	C109S	unknown	Het
Micall2	T	A	5: 139,703,254 (GRCm39)	H194L	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp16	T	A	4: 18,051,820 (GRCm39)	Y270N	probably damaging	Het
Naa16	A	T	14: 79,628,016 (GRCm39)	F14I	probably benign	Het
Nme6	T	G	9: 109,668,706 (GRCm39)	F41V	probably damaging	Het
Npffr1	A	G	10: 61,449,939 (GRCm39)	N71S	possibly damaging	Het
Or1b1	C	A	2: 36,995,523 (GRCm39)	L46F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,207,949 (GRCm39)	W33R	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Pard3b	T	A	1: 62,677,026 (GRCm39)	Y1186N	probably damaging	Het
Ppp2r3c	A	T	12: 55,336,453 (GRCm39)	L233Q	possibly damaging	Het
Prl8a1	G	A	13: 27,766,069 (GRCm39)	H9Y	possibly damaging	Het
Rnf135	C	T	11: 80,074,957 (GRCm39)	T72I	probably benign	Het
Rsf1	A	T	7: 97,328,171 (GRCm39)	I1058F		Het
Slc39a6	A	T	18: 24,729,386 (GRCm39)	Y442*	probably null	Het
Slc44a2	G	A	9: 21,253,153 (GRCm39)		probably benign	Het
Slc4a11	T	G	2: 130,529,140 (GRCm39)	S437R	probably damaging	Het
Spc24	G	A	9: 21,668,994 (GRCm39)	Q98*	probably null	Het
Spock3	T	A	8: 63,404,986 (GRCm39)	Y51*	probably null	Het
Sptbn1	A	G	11: 30,067,800 (GRCm39)	Y1805H	probably benign	Het
Tango6	A	G	8: 107,468,845 (GRCm39)	I780M	probably benign	Het
Tcerg1l	C	T	7: 137,999,260 (GRCm39)	W41*	probably null	Het
Tdrd9	A	G	12: 111,979,718 (GRCm39)	Y401C	probably benign	Het
Tex47	A	T	5: 7,355,115 (GRCm39)	I99F	probably damaging	Het
Tlr9	G	A	9: 106,099,834 (GRCm39)		probably benign	Het
Tmem209	T	A	6: 30,497,942 (GRCm39)	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,687,618 (GRCm39)	S97A	possibly damaging	Het
Top6bl	A	G	19: 4,699,721 (GRCm39)	V494A	possibly damaging	Het
Ttc7	T	A	17: 87,637,520 (GRCm39)	M425K	probably damaging	Het
Ttn	C	T	2: 76,739,466 (GRCm39)	G3737D	unknown	Het
Tyk2	T	C	9: 21,027,463 (GRCm39)	H503R	probably benign	Het
Unc13b	A	T	4: 43,176,484 (GRCm39)	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,766,186 (GRCm39)	R58C	probably damaging	Het
Vmn1r160	G	A	7: 22,571,474 (GRCm39)	V276I	probably benign	Het
Vmn2r112	A	G	17: 22,837,612 (GRCm39)	Y691C	probably damaging	Het
Vmn2r87	A	C	10: 130,308,105 (GRCm39)	I711S	probably damaging	Het
Vmn2r94	A	G	17: 18,464,335 (GRCm39)	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967 (GRCm39)	C313S	probably damaging	Het
Xrcc5	T	G	1: 72,382,190 (GRCm39)	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,290,987 (GRCm39)		probably benign	Het
Zfp964	G	A	8: 70,116,405 (GRCm39)	G335D	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
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
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'- AGCAAGACTGGCGTTTGCTG -3'
(R):5'- TTAAAGTAGGACTCATAGCTTTGGC -3'

Sequencing Primer
(F):5'- ACTGGCGTTTGCTGGCAAC -3'
(R):5'- GTAGTAGGTTAACCATTCTCTTG -3'

Posted On

2021-08-02