Mutagenetix > Incidental Mutation

Incidental Mutation 'R0083:Fkbp4'

60642

Institutional Source

Beutler Lab

Gene Symbol

Fkbp4

Ensembl Gene

ENSMUSG00000030357

Gene Name

FK506 binding protein 4

Synonyms

FKBP-52, FKBP52

MMRRC Submission

038370-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R0083 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

128407066-128415619 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 128409370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032508] [ENSMUST00000150387] [ENSMUST00000151796]

AlphaFold

P30416

Predicted Effect

probably benign
Transcript: ENSMUST00000032508

SMART Domains

Protein: ENSMUSP00000032508
Gene: ENSMUSG00000030357

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	43	135	2.6e-33	PFAM
Pfam:FKBP_C	160	250	1.3e-14	PFAM
TPR	270	303	4.44e1	SMART
TPR	319	352	1.76e-5	SMART
TPR	353	386	2e-4	SMART
low complexity region	419	431	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139448

SMART Domains

Protein: ENSMUSP00000114939
Gene: ENSMUSG00000030357

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	43	135	3.8e-33	PFAM
Pfam:FKBP_C	160	250	2.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150387

SMART Domains

Protein: ENSMUSP00000119930
Gene: ENSMUSG00000030357

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	1	88	7.8e-31	PFAM
Pfam:FKBP_C	113	203	4.7e-13	PFAM
Blast:TPR	223	256	3e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000151796

SMART Domains

Protein: ENSMUSP00000122087
Gene: ENSMUSG00000030357

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	1	88	3.7e-31	PFAM
Pfam:FKBP_C	113	187	3.2e-8	PFAM

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.0%
20x: 83.1%

Validation Efficiency

88% (117/133)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous null males show reproductive tissue defects consistent with androgen insensitivity such as ambiguous external genitalia, dysgenic prostate, malformed seminal gland and cryptorchism. Males also exhibit hypospadia and infertility. Females are sterile due to failure of implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,667,406 (GRCm39)	I266F	unknown	Het
Adam39	T	G	8: 41,278,115 (GRCm39)	F169V	probably damaging	Het
Adcy2	A	T	13: 68,800,054 (GRCm39)	V858E	probably damaging	Het
Adgrv1	A	G	13: 81,726,523 (GRCm39)		probably benign	Het
Ankrd26	G	T	6: 118,500,215 (GRCm39)	H1085Q	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atg4c	C	T	4: 99,109,677 (GRCm39)	H215Y	possibly damaging	Het
Atp6v0d2	G	A	4: 19,880,001 (GRCm39)		probably benign	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
C1qtnf3	G	A	15: 10,975,718 (GRCm39)	V175I	possibly damaging	Het
Cacna1c	A	G	6: 118,602,484 (GRCm39)	M1293T	probably damaging	Het
Ccdc88a	T	A	11: 29,453,463 (GRCm39)	S337T	probably damaging	Het
Cntn4	A	G	6: 106,502,330 (GRCm39)	I362M	possibly damaging	Het
Col22a1	A	T	15: 71,762,346 (GRCm39)	D104E	possibly damaging	Het
Col4a4	T	C	1: 82,484,832 (GRCm39)		probably null	Het
Cul7	C	A	17: 46,966,482 (GRCm39)	R304S	probably benign	Het
Elfn2	A	T	15: 78,557,614 (GRCm39)	L311Q	probably damaging	Het
Esrrb	T	C	12: 86,561,226 (GRCm39)	L320P	probably damaging	Het
Fads2b	A	T	2: 85,324,476 (GRCm39)	F283L	possibly damaging	Het
Fbxw10	A	G	11: 62,767,887 (GRCm39)	T903A	probably benign	Het
Gatad2b	T	A	3: 90,265,250 (GRCm39)	Y576N	probably damaging	Het
Greb1	T	C	12: 16,746,452 (GRCm39)	M1273V	probably benign	Het
Helq	C	A	5: 100,916,234 (GRCm39)	E913*	probably null	Het
Inpp4b	C	A	8: 82,468,091 (GRCm39)	A18E	possibly damaging	Het
Ints13	A	G	6: 146,452,162 (GRCm39)	Y686H	probably benign	Het
Itgb7	C	T	15: 102,131,917 (GRCm39)	R222H	probably damaging	Het
Krt81	A	G	15: 101,361,346 (GRCm39)	I78T	probably damaging	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mctp2	G	T	7: 71,878,264 (GRCm39)	F271L	possibly damaging	Het
Mrto4	C	T	4: 139,075,279 (GRCm39)	V175I	possibly damaging	Het
Myh14	A	G	7: 44,283,943 (GRCm39)	V654A	probably damaging	Het
Neu2	A	G	1: 87,524,984 (GRCm39)	Y323C	probably damaging	Het
Nt5dc1	A	C	10: 34,279,760 (GRCm39)	M94R	probably damaging	Het
Nup210l	A	G	3: 90,096,882 (GRCm39)	T1364A	probably damaging	Het
Obscn	T	C	11: 58,913,200 (GRCm39)	D6939G	probably damaging	Het
Or10q1b	A	T	19: 13,683,042 (GRCm39)	T284S	probably damaging	Het
Pias4	A	G	10: 81,000,000 (GRCm39)	S18P	probably damaging	Het
Plcl1	A	G	1: 55,737,098 (GRCm39)	Y813C	possibly damaging	Het
Plk5	G	A	10: 80,192,496 (GRCm39)	G34S	possibly damaging	Het
Ptprj	A	T	2: 90,300,121 (GRCm39)		probably null	Het
Rps6ka2	G	A	17: 7,563,442 (GRCm39)	D617N	probably benign	Het
Sap130	C	A	18: 31,799,382 (GRCm39)		probably benign	Het
Sap130	C	T	18: 31,844,694 (GRCm39)	P902S	probably damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc15a2	T	C	16: 36,602,645 (GRCm39)	Y72C	probably damaging	Het
Slc26a6	T	C	9: 108,736,312 (GRCm39)		probably null	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Sppl2c	G	A	11: 104,077,358 (GRCm39)	V53I	probably benign	Het
Sstr1	T	A	12: 58,260,528 (GRCm39)	C384S	possibly damaging	Het
Sulf1	A	G	1: 12,887,641 (GRCm39)	M272V	probably damaging	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Tmem94	A	G	11: 115,687,550 (GRCm39)		probably benign	Het
Topaz1	A	T	9: 122,604,674 (GRCm39)	I1093L	probably benign	Het
Ttll4	G	T	1: 74,718,928 (GRCm39)	V260L	probably benign	Het
Vmn2r26	A	T	6: 124,030,940 (GRCm39)		probably null	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het
Zfp939	A	T	7: 39,123,534 (GRCm39)		noncoding transcript	Het

Other mutations in Fkbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Fkbp4	APN	6	128,412,754 (GRCm39)	missense	probably benign	0.28
IGL02215:Fkbp4	APN	6	128,411,433 (GRCm39)	splice site	probably benign
IGL02607:Fkbp4	APN	6	128,411,433 (GRCm39)	splice site	probably benign
IGL03186:Fkbp4	APN	6	128,411,763 (GRCm39)	missense	probably benign
IGL03238:Fkbp4	APN	6	128,411,720 (GRCm39)	missense	probably damaging	1.00
R0491:Fkbp4	UTSW	6	128,412,705 (GRCm39)	missense	probably damaging	1.00
R1652:Fkbp4	UTSW	6	128,413,637 (GRCm39)	missense	probably damaging	0.97
R1868:Fkbp4	UTSW	6	128,409,453 (GRCm39)	missense	probably benign	0.00
R2010:Fkbp4	UTSW	6	128,412,765 (GRCm39)	missense	probably benign	0.01
R2292:Fkbp4	UTSW	6	128,413,625 (GRCm39)	missense	probably damaging	1.00
R5616:Fkbp4	UTSW	6	128,410,517 (GRCm39)	missense	probably damaging	0.99
R6478:Fkbp4	UTSW	6	128,410,194 (GRCm39)	missense	probably damaging	1.00
R7156:Fkbp4	UTSW	6	128,412,787 (GRCm39)	missense	probably benign	0.31
R9182:Fkbp4	UTSW	6	128,415,382 (GRCm39)	missense	probably benign
R9445:Fkbp4	UTSW	6	128,413,580 (GRCm39)	missense	probably damaging	1.00
R9739:Fkbp4	UTSW	6	128,410,728 (GRCm39)	missense	probably benign	0.00
Z1177:Fkbp4	UTSW	6	128,410,074 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAAACCCTTCTTCTGTCCACTGC -3'
(R):5'- AGCTGACTTCCAAAAGGTCCTGC -3'

Sequencing Primer
(F):5'- tggttggtggaactctttgg -3'
(R):5'- TGCAGCTCTATCCCAGCAAC -3'

Posted On

2013-07-24