Mutagenetix > Incidental Mutation

Incidental Mutation 'R9445:Fkbp4'

713873

Institutional Source

Beutler Lab

Gene Symbol

Fkbp4

Ensembl Gene

ENSMUSG00000030357

Gene Name

FK506 binding protein 4

Synonyms

FKBP-52, FKBP52

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R9445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128407066-128415619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128413580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 68 (D68G)

Ref Sequence

ENSEMBL: ENSMUSP00000032508 (fasta)

Gene Model

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

AlphaFold

P30416

Predicted Effect

probably damaging
Transcript: ENSMUST00000032508
AA Change: D68G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032508
Gene: ENSMUSG00000030357
AA Change: D68G

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

probably damaging
Transcript: ENSMUST00000150387
AA Change: D21G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119930
Gene: ENSMUSG00000030357
AA Change: D21G

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 damaging
Transcript: ENSMUST00000151796
AA Change: D21G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122087
Gene: ENSMUSG00000030357
AA Change: D21G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	A	14: 41,818,174 (GRCm39)	H23Q	possibly damaging	Het
Abca14	T	C	7: 119,877,691 (GRCm39)	S1069P	probably benign	Het
Abo	A	G	2: 26,733,720 (GRCm39)	W160R	probably damaging	Het
Adgrb1	A	T	15: 74,435,807 (GRCm39)		probably benign	Het
Ahnak2	T	C	12: 112,745,978 (GRCm39)	Q1624R		Het
Amy2a1	T	A	3: 113,325,324 (GRCm39)	N90I	possibly damaging	Het
Bod1l	C	T	5: 41,974,619 (GRCm39)	V2232I	probably benign	Het
Brsk2	T	A	7: 141,538,149 (GRCm39)	H98Q	probably damaging	Het
Caskin2	C	T	11: 115,694,576 (GRCm39)	V342I	probably damaging	Het
Ccdc13	T	C	9: 121,627,156 (GRCm39)	N707S	probably benign	Het
Cdv3	T	C	9: 103,241,240 (GRCm39)	E109G	probably damaging	Het
Coro2a	C	T	4: 46,540,558 (GRCm39)	E454K	probably benign	Het
Cpq	A	T	15: 33,213,391 (GRCm39)	I137F	possibly damaging	Het
Ctsj	G	A	13: 61,151,838 (GRCm39)	T73I	possibly damaging	Het
Dchs2	A	G	3: 83,146,284 (GRCm39)	D710G	probably damaging	Het
Drd4	T	C	7: 140,872,162 (GRCm39)	V71A	probably damaging	Het
Eef2k	T	C	7: 120,457,694 (GRCm39)	C18R	probably benign	Het
Ercc4	C	A	16: 12,945,474 (GRCm39)	D386E	probably benign	Het
F2rl2	A	C	13: 95,837,622 (GRCm39)	L222F	probably benign	Het
Fsip2	A	T	2: 82,806,132 (GRCm39)	D817V	probably damaging	Het
Gm19410	G	A	8: 36,239,652 (GRCm39)	R116H	possibly damaging	Het
Gm9376	A	T	14: 118,504,502 (GRCm39)		probably benign	Het
Golim4	A	T	3: 75,813,775 (GRCm39)	F150I	probably damaging	Het
Gtpbp2	G	A	17: 46,478,757 (GRCm39)	V525M	probably damaging	Het
Hook1	A	G	4: 95,901,499 (GRCm39)	N486D	probably benign	Het
Hook1	A	G	4: 95,903,049 (GRCm39)	S513G	probably benign	Het
Hoxd9	A	T	2: 74,528,415 (GRCm39)	T6S	probably damaging	Het
Hsd3b2	A	T	3: 98,619,051 (GRCm39)	L298Q	possibly damaging	Het
Idh3b	A	C	2: 130,123,572 (GRCm39)	S172A	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Ighv5-17	T	A	12: 113,822,858 (GRCm39)	T88S	possibly damaging	Het
Il16	T	A	7: 83,337,380 (GRCm39)	K112*	probably null	Het
Irag1	A	T	7: 110,545,161 (GRCm39)	I45N	possibly damaging	Het
Kalrn	T	A	16: 33,805,600 (GRCm39)	I2646F	probably benign	Het
Kcnt1	G	T	2: 25,767,959 (GRCm39)	G23C	probably damaging	Het
Kirrel2	T	A	7: 30,150,260 (GRCm39)	I523F	probably damaging	Het
Lrrc3b	A	T	14: 15,358,552 (GRCm38)	L18H	probably damaging	Het
Med13l	T	A	5: 118,862,214 (GRCm39)	S386T	probably benign	Het
Mettl6	C	T	14: 31,209,527 (GRCm39)		probably null	Het
Mocs2	C	T	13: 114,961,879 (GRCm39)	A120V	possibly damaging	Het
Mrpl39	T	C	16: 84,531,346 (GRCm39)	T74A	probably benign	Het
Myh2	T	C	11: 67,069,754 (GRCm39)	F367L	probably damaging	Het
N4bp1	G	A	8: 87,587,238 (GRCm39)	Q567*	probably null	Het
Naf1	A	G	8: 67,336,097 (GRCm39)	I341M	probably damaging	Het
Ncoa6	A	T	2: 155,250,063 (GRCm39)	N1080K	probably benign	Het
Nell1	C	A	7: 49,632,474 (GRCm39)	L36I	possibly damaging	Het
Nrxn2	A	G	19: 6,522,448 (GRCm39)	D446G	probably damaging	Het
Nrxn3	T	A	12: 89,499,737 (GRCm39)	C709*	probably null	Het
Or13p4	T	G	4: 118,547,416 (GRCm39)	T78P	probably damaging	Het
Or2ag17	A	G	7: 106,389,464 (GRCm39)	V248A	probably damaging	Het
Or2n1	A	C	17: 38,486,694 (GRCm39)	T240P	probably damaging	Het
Or2t26	C	G	11: 49,039,879 (GRCm39)	A265G	probably benign	Het
Or8g19	T	A	9: 39,055,766 (GRCm39)	Y123*	probably null	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pbx3	A	G	2: 34,114,555 (GRCm39)		probably benign	Het
Pcnx1	T	C	12: 81,964,981 (GRCm39)	S383P	probably damaging	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Pnliprp1	A	G	19: 58,720,628 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,343,795 (GRCm39)	L365P	probably damaging	Het
Prl8a9	C	T	13: 27,748,498 (GRCm39)		probably null	Het
Qdpr	T	C	5: 45,596,669 (GRCm39)	N165S	probably benign	Het
Rabl2	A	G	15: 89,468,148 (GRCm39)	F158L	probably damaging	Het
Rrp7a	G	T	15: 83,004,084 (GRCm39)	C117*	probably null	Het
Ryr2	T	C	13: 11,787,463 (GRCm39)	Y970C	probably damaging	Het
Sf3b3	T	C	8: 111,552,774 (GRCm39)	T503A	possibly damaging	Het
Sipa1	T	C	19: 5,704,198 (GRCm39)	E708G	probably damaging	Het
Skor2	T	A	18: 76,948,811 (GRCm39)	S844R	possibly damaging	Het
Slc6a7	C	T	18: 61,138,815 (GRCm39)	C231Y	probably damaging	Het
Smgc	A	T	15: 91,729,665 (GRCm39)	E206D	probably benign	Het
Tanc2	T	C	11: 105,758,290 (GRCm39)	S684P	possibly damaging	Het
Tep1	T	C	14: 51,082,967 (GRCm39)	T1014A	possibly damaging	Het
Tex19.1	A	G	11: 121,038,283 (GRCm39)	S214G	probably benign	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Use1	T	C	8: 71,821,200 (GRCm39)	S156P	probably benign	Het
Znrf1	G	A	8: 112,335,954 (GRCm39)	V152M	probably damaging	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
R0083:Fkbp4	UTSW	6	128,409,370 (GRCm39)	unclassified	probably benign
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
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'- TAAGCTTCCTTCTGGTGGCC -3'
(R):5'- AGTCCATCCAGTATGTGTCTTTGG -3'

Sequencing Primer
(F):5'- AATCTCTGGTCGCTGGAAAC -3'
(R):5'- GGGGGCTTATGGGCAGTTG -3'

Posted On

2022-06-15