Mutagenetix > Incidental Mutation

Incidental Mutation 'R7403:Pou2f1'

574315

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

045485-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165692723-165830247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 165738955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 166 (A166T)

Ref Sequence

ENSEMBL: ENSMUSP00000124738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027850] [ENSMUST00000069609] [ENSMUST00000111426] [ENSMUST00000111427] [ENSMUST00000111429] [ENSMUST00000159212] [ENSMUST00000160260] [ENSMUST00000160908] [ENSMUST00000177358] [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

unknown
Transcript: ENSMUST00000069609
AA Change: A155T

SMART Domains

Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: A155T

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

probably benign
Transcript: ENSMUST00000111426
AA Change: A155T

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: A155T

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: A155T

SMART Domains

Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: A155T

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: A143T

SMART Domains

Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: A143T

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
AA Change: A50T

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565
AA Change: A50T

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: A166T

SMART Domains

Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: A166T

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: A166T

SMART Domains

Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: A166T

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: ENSMUST00000177358
AA Change: A143T

SMART Domains

Protein: ENSMUSP00000135565
Gene: ENSMUSG00000026565
AA Change: A143T

Domain	Start	End	E-Value	Type
low complexity region	71	100	N/A	INTRINSIC
low complexity region	118	160	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000184643
AA Change: A143T

SMART Domains

Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565
AA Change: A143T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	G	A	10: 83,450,059 (GRCm39)	A271V	probably benign	Het
Brpf3	C	T	17: 29,040,330 (GRCm39)	T917I	probably benign	Het
Camta1	G	A	4: 151,537,752 (GRCm39)	Q143*	probably null	Het
Cd3e	C	A	9: 44,913,590 (GRCm39)	E48D	probably benign	Het
Clca3b	A	G	3: 144,529,259 (GRCm39)	L805P	probably benign	Het
Crispld1	A	G	1: 17,817,820 (GRCm39)	Y241C	probably damaging	Het
Ddx43	T	G	9: 78,321,133 (GRCm39)	N380K	probably damaging	Het
Dtl	A	T	1: 191,295,285 (GRCm39)	V155E	probably damaging	Het
Eif1ad19	G	T	12: 87,740,314 (GRCm39)	Q82K	probably benign	Het
Elp1	A	T	4: 56,778,994 (GRCm39)	C608S	probably damaging	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Fam78a	T	C	2: 31,959,627 (GRCm39)	N161S	probably damaging	Het
Far2	T	C	6: 148,060,475 (GRCm39)	I276T	possibly damaging	Het
Frem3	T	C	8: 81,342,774 (GRCm39)	L1689P	probably damaging	Het
Gak	T	C	5: 108,761,401 (GRCm39)	K210R	probably benign	Het
Gna14	G	T	19: 16,576,445 (GRCm39)	D151Y		Het
Hdhd2	A	G	18: 77,042,736 (GRCm39)	D55G	probably benign	Het
Hycc2	A	T	1: 58,587,861 (GRCm39)	D117E	possibly damaging	Het
Ifna5	A	G	4: 88,754,110 (GRCm39)	N117D	probably benign	Het
Il16	T	A	7: 83,319,343 (GRCm39)	T383S	probably damaging	Het
Il36rn	T	C	2: 24,171,214 (GRCm39)	F101L	probably damaging	Het
Ino80d	A	G	1: 63,101,378 (GRCm39)	V416A	possibly damaging	Het
Ints6	T	C	14: 62,945,104 (GRCm39)	R409G	possibly damaging	Het
Itgb5	G	T	16: 33,723,163 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,953,399 (GRCm39)	L905*	probably null	Het
Kcnq3	T	A	15: 65,874,066 (GRCm39)	R561W	probably damaging	Het
Lipo4	C	T	19: 33,480,679 (GRCm39)	E230K	possibly damaging	Het
Lrrc7	A	T	3: 157,854,311 (GRCm39)	L1299*	probably null	Het
Mcm3ap	T	C	10: 76,318,657 (GRCm39)		probably null	Het
Mok	A	T	12: 110,781,563 (GRCm39)		probably null	Het
Mylk2	T	A	2: 152,759,261 (GRCm39)	V344E	probably damaging	Het
Oacyl	T	C	18: 65,870,966 (GRCm39)	V389A	probably benign	Het
Oplah	T	C	15: 76,189,209 (GRCm39)	D278G	probably benign	Het
Or1j8	T	C	2: 36,192,342 (GRCm39)	F264L	probably benign	Het
Or8s5	T	C	15: 98,238,000 (GRCm39)	Y290C	probably damaging	Het
Padi3	T	C	4: 140,527,430 (GRCm39)	N124D	probably benign	Het
Parp3	T	C	9: 106,352,052 (GRCm39)	S107G	probably benign	Het
Pcdhb18	G	A	18: 37,624,950 (GRCm39)	G760D	probably benign	Het
Plekhh1	G	A	12: 79,087,351 (GRCm39)	W13*	probably null	Het
Poglut3	T	A	9: 53,301,741 (GRCm39)	V131E	probably damaging	Het
Ppp1r10	C	T	17: 36,240,326 (GRCm39)	P539S	probably benign	Het
Prdm11	T	C	2: 92,817,036 (GRCm39)	T310A	probably benign	Het
Rbm25	A	G	12: 83,722,908 (GRCm39)	Y777C	probably damaging	Het
Relt	A	T	7: 100,500,655 (GRCm39)	C72S	probably damaging	Het
Rhag	T	A	17: 41,145,549 (GRCm39)	I334N	probably damaging	Het
Rhbdf2	A	C	11: 116,491,245 (GRCm39)	L630R	probably damaging	Het
Rnps1	T	C	17: 24,644,061 (GRCm39)	S274P	unknown	Het
Rtkn2	A	G	10: 67,841,466 (GRCm39)	I205V	probably benign	Het
Ryr1	A	T	7: 28,713,292 (GRCm39)	V4690E	probably benign	Het
Secisbp2l	T	C	2: 125,602,199 (GRCm39)	Y387C	possibly damaging	Het
Sema3d	A	T	5: 12,547,551 (GRCm39)	I158F	probably damaging	Het
Slc17a1	A	G	13: 24,058,690 (GRCm39)	N48S	probably benign	Het
Slc2a1	G	A	4: 118,989,752 (GRCm39)	G130S	probably damaging	Het
Slc6a3	T	C	13: 73,710,546 (GRCm39)		probably null	Het
Snx27	A	T	3: 94,436,233 (GRCm39)	S261T	probably damaging	Het
Spag17	A	T	3: 99,846,691 (GRCm39)	I72F	possibly damaging	Het
Spink6	T	G	18: 44,204,564 (GRCm39)	L10R	unknown	Het
Swt1	G	A	1: 151,264,444 (GRCm39)	T690I	probably benign	Het
Syne2	G	A	12: 75,962,020 (GRCm39)	E729K	not run	Het
Synj2	C	T	17: 6,088,005 (GRCm39)	T1352M	possibly damaging	Het
Taar4	G	A	10: 23,836,957 (GRCm39)	G189D	probably damaging	Het
Thsd4	T	C	9: 59,964,170 (GRCm39)	N441D	probably damaging	Het
Tm9sf2	A	G	14: 122,378,640 (GRCm39)	D248G	probably benign	Het
Tmem69	A	T	4: 116,410,664 (GRCm39)	L102Q	probably damaging	Het
Tshr	A	G	12: 91,464,548 (GRCm39)	Y98C	probably damaging	Het
Tspan1	A	G	4: 116,020,219 (GRCm39)	V230A	probably benign	Het
Upk3a	T	C	15: 84,903,709 (GRCm39)	V136A	possibly damaging	Het
Ush2a	T	A	1: 188,365,924 (GRCm39)	N2259K	probably damaging	Het
Usp24	A	G	4: 106,264,232 (GRCm39)	D1721G	possibly damaging	Het
Vldlr	T	A	19: 27,213,674 (GRCm39)	C120*	probably null	Het
Vmn2r23	A	T	6: 123,681,538 (GRCm39)	I149L	probably benign	Het
Vps8	A	T	16: 21,253,722 (GRCm39)	E21V	possibly damaging	Het
Wdr35	A	G	12: 9,062,685 (GRCm39)	I635V	probably damaging	Het
Zfp955a	T	C	17: 33,462,720 (GRCm39)	D58G	probably benign	Het
Zkscan5	A	G	5: 145,155,403 (GRCm39)	Q358R	probably benign	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
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'- GGTGTTTAAAGACCCACAGCAG -3'
(R):5'- GGTGGACAGGTTAGCTGTAC -3'

Sequencing Primer
(F):5'- GCAACCAGAAGGCTAACAATATG -3'
(R):5'- GACAGGTTAGCTGTACATTGACC -3'

Posted On

2019-09-13