Mutagenetix > Incidental Mutation

Incidental Mutation 'R8249:Fkbp6'

640324

Institutional Source

Beutler Lab

Gene Symbol

Fkbp6

Ensembl Gene

ENSMUSG00000040013

Gene Name

FK506 binding protein 6

Synonyms

1700008G22Rik, D5Ertd724e

MMRRC Submission

067649-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8249 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

135320558-135378898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135378806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000043193 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044972] [ENSMUST00000065785] [ENSMUST00000111180] [ENSMUST00000201534] [ENSMUST00000201784] [ENSMUST00000201791]

AlphaFold

Q91XW8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044972
AA Change: S14P

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043193
Gene: ENSMUSG00000040013
AA Change: S14P

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	48	140	3.5e-20	PFAM
Blast:TPR	171	195	1e-7	BLAST
low complexity region	196	206	N/A	INTRINSIC
Pfam:TPR_2	220	252	3.3e-4	PFAM
Pfam:TPR_2	253	284	5.4e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065785

SMART Domains

Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388

Domain	Start	End	E-Value	Type
RING	16	56	7.92e-8	SMART
BBOX	84	125	3.34e-6	SMART
coiled coil region	128	163	N/A	INTRINSIC
coiled coil region	206	235	N/A	INTRINSIC
PRY	292	344	1.07e-13	SMART
SPRY	345	473	7.48e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111180

SMART Domains

Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388

Domain	Start	End	E-Value	Type
RING	16	56	7.92e-8	SMART
BBOX	84	125	3.34e-6	SMART
coiled coil region	128	163	N/A	INTRINSIC
coiled coil region	206	235	N/A	INTRINSIC
PRY	293	345	1.07e-13	SMART
SPRY	346	474	7.48e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201534
AA Change: S14P

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144471
Gene: ENSMUSG00000040013
AA Change: S14P

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	48	140	3.5e-20	PFAM
Blast:TPR	171	195	1e-7	BLAST
low complexity region	196	206	N/A	INTRINSIC
Pfam:TPR_2	220	252	3.3e-4	PFAM
Pfam:TPR_2	253	284	5.4e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201784

SMART Domains

Protein: ENSMUSP00000144381
Gene: ENSMUSG00000040013

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	48	140	7.6e-20	PFAM
Blast:TPR	171	195	1e-7	BLAST
low complexity region	196	206	N/A	INTRINSIC
Pfam:TPR_2	220	252	1.3e-4	PFAM
Pfam:TPR_2	253	284	2.1e-4	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201791
AA Change: S14P

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144460
Gene: ENSMUSG00000040013
AA Change: S14P

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	48	140	5.9e-20	PFAM
low complexity region	153	166	N/A	INTRINSIC
Pfam:TPR_2	180	212	1.1e-4	PFAM
Pfam:TPR_2	213	244	1.8e-4	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the FK506-binding protein (Fkbp) family. The encoded protein plays a role in male-specific fertility and homologous pairing of chromosomes during meiosis. The protein may also be involved in LINE1 transposon silencing and binding to Hsp90 as a co-chaperone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit azoospermia and male infertility associated with arrest of male meiosis at the pachytene stage, and increased apoptosis of meiotic spermatocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,360,971 (GRCm39)	S441P	probably benign	Het
Adck2	C	T	6: 39,562,667 (GRCm39)	R513*	probably null	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Arhgap12	A	T	18: 6,027,635 (GRCm39)	I736N	probably damaging	Het
AW554918	C	T	18: 25,472,775 (GRCm39)	T193I	probably benign	Het
Bscl2	T	C	19: 8,823,884 (GRCm39)	Y270H	probably damaging	Het
Btd	T	C	14: 31,387,905 (GRCm39)	Y112H	probably damaging	Het
Camk2d	C	T	3: 126,591,378 (GRCm39)	H283Y	probably damaging	Het
Cnga1	T	C	5: 72,762,737 (GRCm39)	Y259C	probably benign	Het
Dnm3	A	T	1: 162,305,312 (GRCm39)	C27*	probably null	Het
Fbxo48	T	A	11: 16,903,433 (GRCm39)	S20T	possibly damaging	Het
Gcfc2	T	C	6: 81,933,932 (GRCm39)	F730L	probably benign	Het
Gm136	C	A	4: 34,750,955 (GRCm39)	R106L	probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Grin2c	C	T	11: 115,144,663 (GRCm39)	R621Q	probably damaging	Het
H2-M11	T	A	17: 36,859,900 (GRCm39)	W298R	probably damaging	Het
Hars2	A	T	18: 36,921,054 (GRCm39)	I209F	probably damaging	Het
Hmcn1	A	T	1: 150,695,117 (GRCm39)	N262K	probably benign	Het
Hycc2	G	A	1: 58,573,796 (GRCm39)	S336L	probably benign	Het
Ifit1	T	A	19: 34,618,389 (GRCm39)		probably null	Het
Ighv1-85	T	C	12: 115,963,844 (GRCm39)	D52G	probably benign	Het
Kit	T	C	5: 75,802,068 (GRCm39)	V657A	probably damaging	Het
Krt32	T	C	11: 99,977,548 (GRCm39)	I173V	probably benign	Het
Lrfn3	GC	GCCAGGGGAGGTGAGCGGTGGGTCACCTCCC	7: 30,059,298 (GRCm39)		probably null	Het
Lrp1	C	A	10: 127,441,412 (GRCm39)	S237I	probably benign	Het
Map3k9	T	C	12: 81,827,551 (GRCm39)	D33G	unknown	Het
Mroh7	T	C	4: 106,578,409 (GRCm39)	T90A	probably benign	Het
Mterf1a	A	C	5: 3,941,550 (GRCm39)	I106S	probably damaging	Het
Mtrf1	C	A	14: 79,638,919 (GRCm39)	A17E	probably benign	Het
Musk	T	G	4: 58,368,926 (GRCm39)	L635R	probably damaging	Het
Naxe	A	T	3: 87,965,695 (GRCm39)	W35R	possibly damaging	Het
Nlrp9c	T	A	7: 26,074,778 (GRCm39)	K806*	probably null	Het
Pi4k2a	A	G	19: 42,103,501 (GRCm39)	E337G	probably benign	Het
Pwwp2b	G	T	7: 138,834,759 (GRCm39)	G67C	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Scn10a	T	A	9: 119,446,840 (GRCm39)	Y1396F	probably damaging	Het
Sdk1	A	T	5: 142,173,770 (GRCm39)		probably null	Het
Serpina1f	C	T	12: 103,660,027 (GRCm39)	G85E	probably damaging	Het
Tceanc2	G	A	4: 107,036,190 (GRCm39)		probably benign	Het
Tmem156	T	A	5: 65,232,969 (GRCm39)	R186*	probably null	Het
Trbv16	A	G	6: 41,128,932 (GRCm39)	T39A	possibly damaging	Het
Tti1	C	G	2: 157,842,635 (GRCm39)	S798T	probably benign	Het
Unc80	A	T	1: 66,658,650 (GRCm39)	M1656L	probably benign	Het
Wnt2	C	A	6: 18,030,284 (GRCm39)	M1I	probably null	Het

Other mutations in Fkbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Fkbp6	APN	5	135,368,802 (GRCm39)	missense	possibly damaging	0.57
IGL01448:Fkbp6	APN	5	135,378,550 (GRCm39)	missense	probably damaging	0.97
IGL02217:Fkbp6	APN	5	135,366,484 (GRCm39)	missense	probably benign	0.00
IGL02956:Fkbp6	APN	5	135,368,350 (GRCm39)	missense	probably damaging	1.00
R0106:Fkbp6	UTSW	5	135,368,858 (GRCm39)	missense	probably benign	0.25
R0106:Fkbp6	UTSW	5	135,368,858 (GRCm39)	missense	probably benign	0.25
R2259:Fkbp6	UTSW	5	135,366,468 (GRCm39)	critical splice donor site	probably null
R2260:Fkbp6	UTSW	5	135,366,468 (GRCm39)	critical splice donor site	probably null
R5820:Fkbp6	UTSW	5	135,368,774 (GRCm39)	critical splice donor site	probably null
R7728:Fkbp6	UTSW	5	135,368,398 (GRCm39)	missense	probably damaging	1.00
R9457:Fkbp6	UTSW	5	135,378,486 (GRCm39)	missense	probably benign	0.00
R9608:Fkbp6	UTSW	5	135,375,027 (GRCm39)	missense	probably damaging	0.99
X0066:Fkbp6	UTSW	5	135,366,524 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCGTTGACTTAGTCGCTCATAG -3'
(R):5'- TTGTGACAGAACGCCAAGC -3'

Sequencing Primer
(F):5'- TGACTTAGTCGCTCATAGGGAGAC -3'
(R):5'- TGCCATCACGTGTGCAG -3'

Posted On

2020-07-28