Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01018:Pou5f2'

53941

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pou5f2

Ensembl Gene

ENSMUSG00000093668

Gene Name

POU domain class 5, transcription factor 2

Synonyms

Sprm1, 1700013G10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL01018

Quality Score

Status

Chromosome

Chromosomal Location

78173021-78174414 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 78174057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091459] [ENSMUST00000099358] [ENSMUST00000163257] [ENSMUST00000175955] [ENSMUST00000224217]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091459

SMART Domains

Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138

Domain	Start	End	E-Value	Type
Pfam:Arb2	30	178	7.8e-38	PFAM
SCOP:d1imja_	224	295	2e-3	SMART
low complexity region	341	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099358

SMART Domains

Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138

Domain	Start	End	E-Value	Type
SCOP:d1imja_	160	231	2e-3	SMART
low complexity region	277	290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163257

SMART Domains

Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Arb2	78	228	3.5e-44	PFAM
SCOP:d1imja_	270	341	2e-3	SMART
low complexity region	387	400	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175955

SMART Domains

Protein: ENSMUSP00000135597
Gene: ENSMUSG00000093668

Domain	Start	End	E-Value	Type
POU	107	181	8.68e-33	SMART
HOX	199	261	2.57e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224217

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null male mice exhibit reduced male fertility in spite of normal morphology and sperm count. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	G	T	6: 133,271,460 (GRCm39)	R168I	probably benign	Het
5530400C23Rik	A	T	6: 133,271,461 (GRCm39)	R168S	probably benign	Het
Armt1	T	A	10: 4,400,732 (GRCm39)	S160T	probably benign	Het
Armt1	C	T	10: 4,404,237 (GRCm39)		probably benign	Het
Ccdc170	T	C	10: 4,462,788 (GRCm39)	W35R	probably benign	Het
Ccdc170	T	C	10: 4,464,114 (GRCm39)	V31A	probably benign	Het
Ccdc170	G	T	10: 4,464,155 (GRCm39)	A99S	probably benign	Het
Glp2r	C	A	11: 67,600,470 (GRCm39)	V460F	probably benign	Het
Gm21411	C	T	4: 146,977,067 (GRCm39)	S69N	possibly damaging	Het
Gm21411	T	C	4: 146,977,034 (GRCm39)	Q80R	probably benign	Het
Gm21738	G	A	14: 19,418,856 (GRCm38)	P24L	probably benign	Het
H2-M10.6	C	T	17: 37,123,112 (GRCm39)	A15V	probably benign	Het
H60c	T	C	10: 3,209,766 (GRCm39)	M174V	probably benign	Het
H60c	A	C	10: 3,210,343 (GRCm39)	F69V	probably benign	Het
Ipcef1	G	A	10: 6,840,551 (GRCm39)	A382V	probably benign	Het
Ipcef1	C	T	10: 6,869,968 (GRCm39)	R144Q	probably damaging	Het
Mapk8ip3	T	G	17: 25,118,693 (GRCm39)		probably benign	Het
Mthfd1l	T	C	10: 3,928,708 (GRCm39)	V100A	probably benign	Het
Mthfd1l	T	C	10: 3,957,800 (GRCm39)	V279A	probably benign	Het
Mthfd1l	T	C	10: 3,982,345 (GRCm39)		probably benign	Het
Mtrf1l	A	G	10: 5,764,180 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,957,613 (GRCm39)	E1450G	probably damaging	Het
Obscn	C	T	11: 59,018,895 (GRCm39)	V973M	probably damaging	Het
Oprm1	T	C	10: 6,987,170 (GRCm39)		probably benign	Het
Or6p1	G	A	1: 174,258,908 (GRCm39)	V305I	probably benign	Het
Ralgapa2	G	A	2: 146,252,113 (GRCm39)	H891Y	probably benign	Het
Ralgapa2	T	G	2: 146,252,112 (GRCm39)	H806P	probably benign	Het
Rmnd1	A	G	10: 4,377,392 (GRCm39)	W96R	probably benign	Het
Rmnd1	A	T	10: 4,377,290 (GRCm39)	S130T	probably benign	Het
Spata31e2	T	C	1: 26,721,991 (GRCm39)	E1063G	probably damaging	Het
Speer4a3	G	T	5: 26,155,721 (GRCm39)	H208N	probably benign	Het
Trappc12	A	C	12: 28,741,853 (GRCm39)		probably benign	Het
Ulbp3	G	A	10: 3,075,031 (GRCm39)		noncoding transcript	Het
Ulbp3	C	T	10: 3,075,193 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,231 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,209 (GRCm39)		noncoding transcript	Het
Vip	A	G	10: 5,592,480 (GRCm39)	D40G	probably benign	Het
Vmn2r125	T	C	4: 156,702,907 (GRCm39)		probably benign	Het
Vmn2r125	A	G	4: 156,703,140 (GRCm39)	N173D	probably damaging	Het
Vmn2r125	C	A	4: 156,703,194 (GRCm39)	Q191K	probably benign	Het
Vmn2r125	A	C	4: 156,703,195 (GRCm39)	Q191P	probably benign	Het
Vmn2r125	A	T	4: 156,703,332 (GRCm39)	T237S	probably benign	Het
Vmn2r125	T	A	4: 156,703,521 (GRCm39)	L300M	probably benign	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r129	C	A	4: 156,690,730 (GRCm39)		noncoding transcript	Het
Vmn2r129	A	T	4: 156,690,441 (GRCm39)		noncoding transcript	Het
Vmn2r129	G	A	4: 156,686,900 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,687,885 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,686,558 (GRCm39)		noncoding transcript	Het
Vmn2r40	G	A	7: 8,911,175 (GRCm39)	S706F	probably damaging	Het
Zfp14	T	A	7: 29,737,526 (GRCm39)	R486S	probably damaging	Het

Other mutations in Pou5f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Pou5f2	APN	13	78,173,300 (GRCm39)	missense	possibly damaging	0.55
IGL02484:Pou5f2	APN	13	78,174,024 (GRCm39)	missense	probably damaging	1.00
IGL02549:Pou5f2	APN	13	78,173,709 (GRCm39)	missense	probably damaging	0.99
IGL02850:Pou5f2	APN	13	78,173,178 (GRCm39)	missense	probably benign	0.00
IGL02852:Pou5f2	APN	13	78,173,178 (GRCm39)	missense	probably benign	0.00
IGL02951:Pou5f2	APN	13	78,173,237 (GRCm39)	missense	probably benign
R0631:Pou5f2	UTSW	13	78,173,873 (GRCm39)	missense	probably benign	0.00
R1502:Pou5f2	UTSW	13	78,173,370 (GRCm39)	missense	probably benign	0.14
R2014:Pou5f2	UTSW	13	78,173,972 (GRCm39)	missense	probably benign	0.00
R2055:Pou5f2	UTSW	13	78,173,940 (GRCm39)	missense	probably benign	0.06
R4082:Pou5f2	UTSW	13	78,174,024 (GRCm39)	missense	probably damaging	1.00
R5193:Pou5f2	UTSW	13	78,173,083 (GRCm39)	missense	probably benign	0.15
R5487:Pou5f2	UTSW	13	78,173,118 (GRCm39)	missense	probably benign	0.09
R6880:Pou5f2	UTSW	13	78,173,613 (GRCm39)	missense	possibly damaging	0.52
R7108:Pou5f2	UTSW	13	78,173,384 (GRCm39)	missense	possibly damaging	0.95
R7117:Pou5f2	UTSW	13	78,173,392 (GRCm39)	missense	probably benign	0.09
R8334:Pou5f2	UTSW	13	78,173,392 (GRCm39)	missense	probably benign	0.09
R8836:Pou5f2	UTSW	13	78,173,886 (GRCm39)	missense	probably damaging	1.00
R9290:Pou5f2	UTSW	13	78,173,585 (GRCm39)	missense	probably damaging	1.00
R9584:Pou5f2	UTSW	13	78,173,592 (GRCm39)	missense	possibly damaging	0.93
Z1176:Pou5f2	UTSW	13	78,173,216 (GRCm39)	missense	probably benign	0.00
Z1177:Pou5f2	UTSW	13	78,173,820 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-28