Mutagenetix > Incidental Mutation

Incidental Mutation 'R9168:Pou1f1'

696212

Institutional Source

Beutler Lab

Gene Symbol

Pou1f1

Ensembl Gene

ENSMUSG00000004842

Gene Name

POU domain, class 1, transcription factor 1

Synonyms

Hmp1, Pit1, GHF-1, Pit1-rs1, Pit-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R9168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65317397-65331891 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 65317427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004964] [ENSMUST00000176038] [ENSMUST00000176330] [ENSMUST00000184525]

AlphaFold

Q00286

Predicted Effect

probably benign
Transcript: ENSMUST00000004964

SMART Domains

Protein: ENSMUSP00000004964
Gene: ENSMUSG00000004842

Domain	Start	End	E-Value	Type
POU	150	224	3.77e-51	SMART
HOX	240	302	2.07e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176038

SMART Domains

Protein: ENSMUSP00000135574
Gene: ENSMUSG00000004842

Domain	Start	End	E-Value	Type
POU	150	224	3.77e-51	SMART
HOX	240	302	2.07e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176330

SMART Domains

Protein: ENSMUSP00000135113
Gene: ENSMUSG00000004842

Domain	Start	End	E-Value	Type
POU	124	198	3.77e-51	SMART
HOX	214	276	2.07e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184525

SMART Domains

Protein: ENSMUSP00000139087
Gene: ENSMUSG00000004842

Domain	Start	End	E-Value	Type
POU	122	196	3.77e-51	SMART
HOX	212	274	2.07e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

97% (67/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit hypoplasia of the anterior pituitary cells resulting in deficiencies in growth hormone, prolactin, and thyroid-stimulating hormone, dwarfism, and sterility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alppl2	T	C	1: 87,015,050 (GRCm39)	Y437C	probably damaging	Het
Arhgef11	T	G	3: 87,633,790 (GRCm39)	L808R	probably damaging	Het
Armc7	G	A	11: 115,366,724 (GRCm39)		probably benign	Het
Ascl1	T	C	10: 87,328,361 (GRCm39)	N197S	probably benign	Het
Cdc42bpb	T	G	12: 111,286,517 (GRCm39)	E630D	possibly damaging	Het
Cep128	T	C	12: 91,233,794 (GRCm39)	I425V	probably damaging	Het
Ces4a	T	A	8: 105,876,050 (GRCm39)	D530E	probably benign	Het
Ch25h	T	C	19: 34,451,905 (GRCm39)	I208V	probably benign	Het
Cnpy3	A	C	17: 47,063,019 (GRCm39)	C11G	unknown	Het
Col12a1	A	C	9: 79,548,783 (GRCm39)	Y2187*	probably null	Het
Cyp2c40	C	T	19: 39,755,819 (GRCm39)	M498I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,113 (GRCm39)	Y233F	probably damaging	Het
Dffa	A	T	4: 149,192,226 (GRCm39)	D100V	probably damaging	Het
Dock7	A	T	4: 98,953,643 (GRCm39)	M363K		Het
Dscam	A	G	16: 96,420,768 (GRCm39)	V1706A	possibly damaging	Het
En1	A	G	1: 120,530,892 (GRCm39)	D44G	unknown	Het
Enpp4	T	A	17: 44,413,141 (GRCm39)	N131I	probably damaging	Het
Ezh1	T	C	11: 101,086,433 (GRCm39)	D587G	probably damaging	Het
Gm21149	G	T	5: 15,677,132 (GRCm39)	H241N	possibly damaging	Het
Gna15	T	C	10: 81,350,192 (GRCm39)	Y70C	probably damaging	Het
Gucy1a1	T	G	3: 82,009,353 (GRCm39)	M552L	probably damaging	Het
Herc2	G	A	7: 55,802,208 (GRCm39)	V2017M	probably damaging	Het
Hsf4	C	T	8: 105,999,373 (GRCm39)	A297V	probably benign	Het
Ighd	T	A	12: 113,379,203 (GRCm39)	T122S		Het
Iqca1	C	T	1: 90,065,937 (GRCm39)	R218Q	probably damaging	Het
Isl2	C	A	9: 55,452,227 (GRCm39)	S266R	probably benign	Het
Itpkb	A	C	1: 180,160,028 (GRCm39)	R51S	probably benign	Het
Jup	A	T	11: 100,274,219 (GRCm39)		probably null	Het
Kbtbd6	T	C	14: 79,690,553 (GRCm39)	V416A	possibly damaging	Het
Klhl22	T	A	16: 17,602,068 (GRCm39)	Y372N	probably damaging	Het
Klrc3	T	C	6: 129,616,142 (GRCm39)	E191G	probably damaging	Het
Lhx5	A	G	5: 120,570,410 (GRCm39)	D22G	probably benign	Het
Marchf9	GGGCGGCGGCGGCGGCG	GGGCGGCGGCGGCG	10: 126,895,360 (GRCm39)		probably benign	Het
Mbtps1	A	G	8: 120,248,602 (GRCm39)	I707T	probably benign	Het
Nbeal1	T	A	1: 60,331,047 (GRCm39)	Y2219N	probably damaging	Het
Neb	A	G	2: 52,085,696 (GRCm39)	I5513T	probably damaging	Het
Nkx1-1	C	T	5: 33,591,131 (GRCm39)	V64M	unknown	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or2g25	T	C	17: 37,971,047 (GRCm39)	Y59C	probably damaging	Het
Or52e18	A	G	7: 104,609,001 (GRCm39)	*313R	probably null	Het
Or7e173	T	C	9: 19,938,818 (GRCm39)	M139V	probably benign	Het
Osbpl3	A	T	6: 50,329,762 (GRCm39)		probably null	Het
Phc3	T	A	3: 30,961,544 (GRCm39)	M963L	probably benign	Het
Phf20	C	T	2: 156,109,234 (GRCm39)	P194S	probably benign	Het
Pramel46	T	A	5: 95,418,133 (GRCm39)	M288L	probably benign	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prelid1	A	G	13: 55,470,010 (GRCm39)	K3R	possibly damaging	Het
Psd	C	A	19: 46,309,233 (GRCm39)	D575Y	probably damaging	Het
Ptger3	C	A	3: 157,273,424 (GRCm39)	T257K	probably damaging	Het
Pth1r	T	C	9: 110,556,204 (GRCm39)	H223R	probably benign	Het
Ptk2b	C	T	14: 66,424,899 (GRCm39)	E182K	probably damaging	Het
Ptprj	T	C	2: 90,294,916 (GRCm39)	T431A	possibly damaging	Het
Rbbp5	T	A	1: 132,417,464 (GRCm39)	D119E	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Rinl	T	G	7: 28,490,084 (GRCm39)	L41R	possibly damaging	Het
Rrp12	A	G	19: 41,865,603 (GRCm39)	V730A	probably benign	Het
Saraf	G	T	8: 34,632,343 (GRCm39)	V141L	possibly damaging	Het
Slc6a13	T	C	6: 121,302,042 (GRCm39)	L208P	probably damaging	Het
Slc9a9	C	A	9: 94,595,000 (GRCm39)	T170K	probably damaging	Het
Spata31f1e	T	C	4: 42,793,380 (GRCm39)	T251A	probably benign	Het
Stk33	T	C	7: 108,928,747 (GRCm39)	N255S	probably damaging	Het
Tenm2	C	T	11: 35,930,722 (GRCm39)	V1769M	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tmem116	T	C	5: 121,605,975 (GRCm39)	V109A		Het
Tnfaip2	T	A	12: 111,411,382 (GRCm39)	L2Q	probably damaging	Het
Trub1	T	C	19: 57,452,859 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,679,260 (GRCm39)	V10821I	unknown	Het
Ube2j1	C	A	4: 33,045,111 (GRCm39)	A197D	probably benign	Het
Vmn2r101	T	A	17: 19,809,138 (GRCm39)	I89N	probably damaging	Het
Wfikkn1	T	C	17: 26,097,145 (GRCm39)	Y393C	probably damaging	Het
Zfp729b	C	A	13: 67,741,942 (GRCm39)	E108*	probably null	Het
Zfp976	A	T	7: 42,263,011 (GRCm39)	C276*	probably null	Het

Other mutations in Pou1f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02086:Pou1f1	APN	16	65,326,784 (GRCm39)	missense	probably damaging	1.00
IGL02416:Pou1f1	APN	16	65,328,842 (GRCm39)	missense	probably damaging	1.00
IGL02704:Pou1f1	APN	16	65,326,685 (GRCm39)	missense	possibly damaging	0.80
IGL02938:Pou1f1	APN	16	65,320,430 (GRCm39)	missense	probably benign	0.00
R1780:Pou1f1	UTSW	16	65,320,356 (GRCm39)	missense	probably benign	0.04
R4742:Pou1f1	UTSW	16	65,320,367 (GRCm39)	missense	probably benign
R4881:Pou1f1	UTSW	16	65,328,728 (GRCm39)	missense	probably damaging	1.00
R5262:Pou1f1	UTSW	16	65,328,868 (GRCm39)	nonsense	probably null
R7404:Pou1f1	UTSW	16	65,330,749 (GRCm39)	missense	probably damaging	1.00
R7612:Pou1f1	UTSW	16	65,326,811 (GRCm39)	missense	probably damaging	0.99
R9072:Pou1f1	UTSW	16	65,328,833 (GRCm39)	missense
R9073:Pou1f1	UTSW	16	65,328,833 (GRCm39)	missense
R9477:Pou1f1	UTSW	16	65,320,503 (GRCm39)	missense	possibly damaging	0.71
R9512:Pou1f1	UTSW	16	65,320,502 (GRCm39)	missense	probably benign	0.00
R9712:Pou1f1	UTSW	16	65,326,758 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGGGCACAGACAGTATTTGG -3'
(R):5'- GGTCAGTACCTGTGGACATC -3'

Sequencing Primer
(F):5'- AGTATTTGGGTAAGTAAGACAGTTCG -3'
(R):5'- ACATCACGTTGGTGGCG -3'

Posted On

2022-02-07