Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Pou1f1'

730286

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: 0.906) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65317397-65331891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65326758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 119 (E119D)

Ref Sequence

ENSEMBL: ENSMUSP00000135113 (fasta)

Gene Model

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

AlphaFold

Q00286

Predicted Effect

probably benign
Transcript: ENSMUST00000004964
AA Change: E145D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000004964
Gene: ENSMUSG00000004842
AA Change: E145D

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
AA Change: E145D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135574
Gene: ENSMUSG00000004842
AA Change: E145D

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
AA Change: E119D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135113
Gene: ENSMUSG00000004842
AA Change: E119D

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: E117D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000139087
Gene: ENSMUSG00000004842
AA Change: E117D

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,765,784 (GRCm39)	M20L	probably benign	Het
Aadacl4fm1	C	T	4: 144,255,354 (GRCm39)	A258V	probably benign	Het
Abca8b	T	A	11: 109,833,163 (GRCm39)	D1241V	probably benign	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Adcy10	T	C	1: 165,340,681 (GRCm39)	F229L	probably damaging	Het
Adsl	A	T	15: 80,839,840 (GRCm39)	N126I	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Ahnak	AGATCTC	A	19: 8,984,392 (GRCm39)		probably benign	Het
Aktip	G	A	8: 91,856,355 (GRCm39)	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,811,318 (GRCm39)	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,197,734 (GRCm39)	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,331,034 (GRCm39)	L583F	probably damaging	Het
Arhgef40	T	C	14: 52,226,415 (GRCm39)	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,498,757 (GRCm39)	S179G	probably benign	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Ccdc136	A	G	6: 29,417,441 (GRCm39)	E754G	probably benign	Het
Cers3	A	G	7: 66,423,378 (GRCm39)	K108E	probably benign	Het
Cmya5	T	C	13: 93,201,881 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,367,148 (GRCm39)	E478G	possibly damaging	Het
Colec10	T	A	15: 54,323,180 (GRCm39)	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,784,895 (GRCm39)	I514F	probably damaging	Het
Cux1	C	T	5: 136,338,673 (GRCm39)	E664K	probably benign	Het
Dars1	T	C	1: 128,333,199 (GRCm39)	Q75R	probably benign	Het
Disp1	T	A	1: 182,917,379 (GRCm39)	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,598,299 (GRCm39)	V1412E	probably benign	Het
Ect2l	C	T	10: 18,044,182 (GRCm39)	V226I	probably benign	Het
Ep400	T	A	5: 110,904,509 (GRCm39)	H30L	unknown	Het
Ephx4	A	G	5: 107,567,647 (GRCm39)	I202V	probably benign	Het
Exoc3	A	T	13: 74,341,027 (GRCm39)	F259Y	probably damaging	Het
Ezr	T	C	17: 7,020,394 (GRCm39)	E229G	probably damaging	Het
Fat1	A	T	8: 45,470,417 (GRCm39)	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972 (GRCm39)	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064 (GRCm39)	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,798,216 (GRCm39)	M759K	probably benign	Het
Gm9922	C	T	14: 101,966,893 (GRCm39)	A120T	unknown	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,276,696 (GRCm39)	S465G	unknown	Het
Ifi204	T	C	1: 173,576,924 (GRCm39)	Y559C	probably damaging	Het
Ift88	T	C	14: 57,718,853 (GRCm39)	S613P	probably damaging	Het
Kif21a	G	C	15: 90,869,528 (GRCm39)	A441G	probably damaging	Het
Kif21a	G	T	15: 90,879,715 (GRCm39)	T191K	probably benign	Het
Lrit1	T	A	14: 36,782,084 (GRCm39)	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837 (GRCm39)	D29E	probably benign	Het
Nlrp10	A	T	7: 108,524,735 (GRCm39)	D248E	probably damaging	Het
Nphp4	T	G	4: 152,631,521 (GRCm39)	V807G	probably benign	Het
Nsd1	T	C	13: 55,393,856 (GRCm39)	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,952,550 (GRCm39)	N80K	probably damaging	Het
Oprk1	T	A	1: 5,669,096 (GRCm39)	C181S	probably damaging	Het
Oprl1	T	A	2: 181,360,212 (GRCm39)	N89K	probably damaging	Het
Or5w12	A	T	2: 87,502,105 (GRCm39)	I202N	probably benign	Het
Or8k53	G	A	2: 86,177,583 (GRCm39)	H176Y	probably benign	Het
Pdcd11	A	G	19: 47,117,741 (GRCm39)	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607 (GRCm39)	H254Y	probably benign	Het
Pds5b	A	T	5: 150,729,128 (GRCm39)	D1419V	possibly damaging	Het
Per1	G	T	11: 68,991,475 (GRCm39)	G3V	probably benign	Het
Pex16	C	A	2: 92,206,988 (GRCm39)	N55K	probably damaging	Het
Phldb2	C	A	16: 45,595,340 (GRCm39)	L862F	probably benign	Het
Pld5	T	A	1: 175,791,572 (GRCm39)	D478V	probably benign	Het
Pms2	T	C	5: 143,851,614 (GRCm39)	I177T	probably damaging	Het
Ppp2r1a	A	C	17: 21,179,058 (GRCm39)	E295A	probably damaging	Het
Qrfprl	A	G	6: 65,433,124 (GRCm39)	I315V	probably benign	Het
Rad51ap2	A	T	12: 11,507,593 (GRCm39)	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,615,536 (GRCm39)	V434G	probably damaging	Het
Rasgrf2	C	T	13: 92,136,092 (GRCm39)	V6M		Het
Rwdd1	A	T	10: 33,877,152 (GRCm39)	D197E		Het
Scn11a	A	T	9: 119,619,076 (GRCm39)	C755*	probably null	Het
Skil	T	C	3: 31,171,009 (GRCm39)	S443P	probably benign	Het
Slc12a6	T	C	2: 112,186,817 (GRCm39)	C939R	probably damaging	Het
Slc25a36	A	G	9: 96,961,230 (GRCm39)	S269P	probably benign	Het
Srrm4	T	A	5: 116,620,452 (GRCm39)	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tbc1d4	A	T	14: 101,744,846 (GRCm39)	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,424,313 (GRCm39)	N593D	probably damaging	Het
Trex1	C	A	9: 108,887,805 (GRCm39)	R62L	probably damaging	Het
Trpm3	A	T	19: 22,692,716 (GRCm39)	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,771,211 (GRCm39)	Y439*	probably null	Het
Ttn	G	A	2: 76,564,592 (GRCm39)	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,815,571 (GRCm39)	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,033,881 (GRCm39)	I212V	possibly damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,481,960 (GRCm39)	D95V	probably benign	Het
Vwf	G	A	6: 125,601,536 (GRCm39)	R826Q		Het
Zfp1002	C	T	2: 150,096,496 (GRCm39)	R311Q	probably benign	Het
Zfp28	T	C	7: 6,396,878 (GRCm39)	C438R	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAAACTCAGAGCTATTGATCTAAC -3'
(R):5'- ATGAGAAATGGCTTGGACTTTTGAG -3'

Sequencing Primer
(F):5'- CTCAGAGCTATTGATCTAACAAAGAG -3'
(R):5'- ATGGCTTGGACTTTTGAGGGGAG -3'

Posted On

2022-10-06