Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Pou1f1'

197484

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

039811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65317397-65331891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65320356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 15 (Y15C)

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

noncoding transcript
Transcript: ENSMUST00000175882

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
AA Change: Y15C

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139087
Gene: ENSMUSG00000004842
AA Change: Y15C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232553

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,558,229 (GRCm39)	E493G	probably damaging	Het
Aff3	A	T	1: 38,574,783 (GRCm39)	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,380,274 (GRCm39)	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,091,138 (GRCm39)	T156A	probably benign	Het
Arhgef4	T	A	1: 34,763,241 (GRCm39)	S832R	possibly damaging	Het
Asb10	T	C	5: 24,738,674 (GRCm39)	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,873,291 (GRCm39)	T25A	probably benign	Het
Atp13a2	T	A	4: 140,729,771 (GRCm39)	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,820,112 (GRCm39)	Y174*	probably null	Het
Bche	A	G	3: 73,607,953 (GRCm39)	I491T	probably benign	Het
Bckdhb	T	C	9: 83,835,836 (GRCm39)		probably null	Het
Cadps2	C	T	6: 23,320,931 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,289,341 (GRCm39)	V468E	probably damaging	Het
Chrnd	T	C	1: 87,120,270 (GRCm39)	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,814,077 (GRCm39)	V645D	unknown	Het
Cpa1	C	T	6: 30,643,007 (GRCm39)	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,541,301 (GRCm39)		probably benign	Het
Cyp2c39	C	A	19: 39,527,295 (GRCm39)		probably benign	Het
Cyp2d26	T	C	15: 82,678,208 (GRCm39)	N56S	probably damaging	Het
Ddx21	A	G	10: 62,429,926 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,991,293 (GRCm39)	C2358S	probably damaging	Het
Entpd8	T	C	2: 24,974,318 (GRCm39)	S368P	probably benign	Het
Epg5	A	T	18: 78,067,205 (GRCm39)	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,206,956 (GRCm39)	V623E	probably benign	Het
Flg2	A	G	3: 93,110,306 (GRCm39)	E778G	unknown	Het
Gbe1	C	T	16: 70,292,212 (GRCm39)	R515*	probably null	Het
Hsd17b6	A	G	10: 127,830,196 (GRCm39)		probably null	Het
Hyal6	C	T	6: 24,734,031 (GRCm39)		probably benign	Het
Ifi27l2b	A	G	12: 103,417,578 (GRCm39)	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,384,250 (GRCm39)	D309E	unknown	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103 (GRCm39)	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mx1	T	C	16: 97,252,712 (GRCm39)	*289W	probably null	Het
Myo7b	T	C	18: 32,094,238 (GRCm39)	E1970G	probably damaging	Het
Mypn	T	C	10: 62,957,743 (GRCm39)	Y24C	probably damaging	Het
Naxe	G	C	3: 87,964,440 (GRCm39)	P167A	probably benign	Het
Nmnat2	A	T	1: 152,988,186 (GRCm39)	K272*	probably null	Het
Nmnat3	C	T	9: 98,236,164 (GRCm39)	T19M	probably damaging	Het
Or4f52	T	C	2: 111,062,043 (GRCm39)	I32V	probably benign	Het
Or51b17	A	T	7: 103,542,762 (GRCm39)	F60Y	probably damaging	Het
Or51b4	A	G	7: 103,530,799 (GRCm39)	V217A	probably benign	Het
Or5b118	A	G	19: 13,448,726 (GRCm39)	T131A	probably benign	Het
Or9s27	G	A	1: 92,516,111 (GRCm39)	V20M	probably benign	Het
Pgm3	T	G	9: 86,438,257 (GRCm39)	E509D	probably damaging	Het
Phf3	A	T	1: 30,851,023 (GRCm39)	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,800,543 (GRCm39)	S3062A	probably benign	Het
Pogz	A	T	3: 94,777,437 (GRCm39)	K372N	possibly damaging	Het
Ppfia2	A	G	10: 106,732,368 (GRCm39)	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,284,742 (GRCm39)	Y703C	possibly damaging	Het
Recql	T	A	6: 142,310,324 (GRCm39)	Q502L	probably benign	Het
Rgs9	A	T	11: 109,130,325 (GRCm39)	Y383*	probably null	Het
Rimbp3	T	C	16: 17,030,496 (GRCm39)	S1307P	probably benign	Het
Rspo1	A	G	4: 124,901,538 (GRCm39)	T200A	probably damaging	Het
Ryr3	C	T	2: 112,697,637 (GRCm39)	M922I	probably damaging	Het
Samm50	C	T	15: 84,095,328 (GRCm39)	A438V	probably damaging	Het
Sec1	A	C	7: 45,328,256 (GRCm39)	S264A	probably benign	Het
Sec31a	A	T	5: 100,529,195 (GRCm39)		probably null	Het
Slc13a3	T	C	2: 165,248,619 (GRCm39)	N553S	unknown	Het
Smg6	T	A	11: 74,836,942 (GRCm39)	L852Q	probably damaging	Het
Spata13	A	G	14: 60,929,174 (GRCm39)	N244S	probably damaging	Het
Srbd1	T	C	17: 86,365,113 (GRCm39)	R648G	probably damaging	Het
Sugct	T	G	13: 17,627,039 (GRCm39)		probably null	Het
Tmed10	A	G	12: 85,401,653 (GRCm39)	Y85H	probably damaging	Het
Trim68	A	G	7: 102,333,280 (GRCm39)	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,124 (GRCm39)	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,067,176 (GRCm39)	R21W	probably damaging	Het
Ttn	T	C	2: 76,641,043 (GRCm39)	I11863V	probably null	Het
Ubp1	G	A	9: 113,793,647 (GRCm39)	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,205,744 (GRCm39)	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,481,999 (GRCm39)	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,703,668 (GRCm39)	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,805,424 (GRCm39)	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,656,029 (GRCm39)	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,794,914 (GRCm39)	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,933,794 (GRCm39)	S284P	probably damaging	Het
Zswim8	C	A	14: 20,766,395 (GRCm39)	H841N	probably damaging	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
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
R9168:Pou1f1	UTSW	16	65,317,427 (GRCm39)	unclassified	probably benign
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

Posted On

2014-05-23