Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02956:Fkbp6'

365124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fkbp6

Ensembl Gene

ENSMUSG00000040013

Gene Name

FK506 binding protein 6

Synonyms

1700008G22Rik, D5Ertd724e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02956

Quality Score

Status

Chromosome

Chromosomal Location

135320558-135378898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135368350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 252 (E252G)

Ref Sequence

ENSEMBL: ENSMUSP00000144460 (fasta)

Gene Model

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

AlphaFold

Q91XW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000044972
AA Change: E292G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043193
Gene: ENSMUSG00000040013
AA Change: E292G

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 damaging
Transcript: ENSMUST00000201534
AA Change: E292G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144471
Gene: ENSMUSG00000040013
AA Change: E292G

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 damaging
Transcript: ENSMUST00000201784
AA Change: E292G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144381
Gene: ENSMUSG00000040013
AA Change: E292G

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

probably damaging
Transcript: ENSMUST00000201791
AA Change: E252G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144460
Gene: ENSMUSG00000040013
AA Change: E252G

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	C	T	2: 26,873,049 (GRCm39)	A339V	probably benign	Het
Adck2	T	C	6: 39,553,436 (GRCm39)	V349A	probably benign	Het
Akna	G	T	4: 63,304,516 (GRCm39)	T546K	probably benign	Het
Albfm1	A	G	5: 90,727,497 (GRCm39)	I372V	possibly damaging	Het
Ankrd29	T	C	18: 12,393,993 (GRCm39)	K274E	probably damaging	Het
Apc2	A	T	10: 80,142,209 (GRCm39)	N376I	probably damaging	Het
Cadps	A	G	14: 12,418,047 (GRCm38)		probably benign	Het
Cbl	T	C	9: 44,080,331 (GRCm39)	T243A	probably damaging	Het
Cep15	A	G	14: 12,287,326 (GRCm38)	N29S	probably benign	Het
Cfap52	T	C	11: 67,844,901 (GRCm39)	E56G	probably benign	Het
Chd5	C	A	4: 152,464,413 (GRCm39)	P1561Q	probably benign	Het
Dscam	A	G	16: 96,602,472 (GRCm39)	S657P	probably damaging	Het
Ece1	T	C	4: 137,690,149 (GRCm39)	F732L	probably damaging	Het
Eno2	T	C	6: 124,740,082 (GRCm39)	D199G	probably damaging	Het
Enpp3	A	G	10: 24,650,841 (GRCm39)		probably benign	Het
Fbxl15	G	T	19: 46,317,690 (GRCm39)	C124F	probably damaging	Het
Fermt3	T	C	19: 6,979,712 (GRCm39)	S474G	probably benign	Het
Gm6625	A	T	8: 89,873,667 (GRCm39)		noncoding transcript	Het
Gnl1	T	C	17: 36,298,504 (GRCm39)	I416T	probably benign	Het
Gp1bb	C	A	16: 18,439,675 (GRCm39)	A140S	probably benign	Het
Grin2c	A	G	11: 115,148,785 (GRCm39)	V271A	possibly damaging	Het
Heatr1	T	A	13: 12,430,940 (GRCm39)	S1012T	possibly damaging	Het
Ighv5-6	T	A	12: 113,589,523 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,562,429 (GRCm39)	E737G	possibly damaging	Het
Lmod2	A	C	6: 24,603,631 (GRCm39)	N202T	probably damaging	Het
Lrp1	C	T	10: 127,380,428 (GRCm39)	V3908I	probably benign	Het
Lrrtm4	T	C	6: 79,998,633 (GRCm39)	V15A	probably benign	Het
Mup4	A	T	4: 59,959,263 (GRCm39)	D77E	probably benign	Het
Myh7b	A	T	2: 155,474,823 (GRCm39)	E1787V	probably damaging	Het
Myh7b	T	A	2: 155,467,874 (GRCm39)	M804K	possibly damaging	Het
Nup133	T	C	8: 124,675,822 (GRCm39)	S32G	probably benign	Het
Or13c7d	T	A	4: 43,770,399 (GRCm39)	N204I	probably benign	Het
Or52h1	T	C	7: 103,829,334 (GRCm39)	I94V	probably damaging	Het
Or7d10	T	C	9: 19,832,348 (GRCm39)	V281A	possibly damaging	Het
Or8b8	A	G	9: 37,809,404 (GRCm39)	K235E	probably damaging	Het
Polr2m	T	C	9: 71,390,911 (GRCm39)	D97G	possibly damaging	Het
Pou2f3	A	G	9: 43,054,100 (GRCm39)		probably benign	Het
Rex1bd	C	A	8: 70,958,552 (GRCm39)	V72F	possibly damaging	Het
Rgp1	A	G	4: 43,581,505 (GRCm39)	T261A	possibly damaging	Het
Satb2	A	G	1: 56,987,334 (GRCm39)	F84L	probably damaging	Het
Sec14l1	G	A	11: 117,043,973 (GRCm39)	D494N	probably benign	Het
Spn	G	A	7: 126,736,432 (GRCm39)	T25M	probably damaging	Het
Trp73	G	A	4: 154,148,920 (GRCm39)		probably benign	Het
Tsc22d2	A	G	3: 58,324,967 (GRCm39)	T620A	unknown	Het
Zfp276	T	C	8: 123,981,483 (GRCm39)	L10P	probably damaging	Het
Zfp93	T	A	7: 23,974,400 (GRCm39)	N128K	probably benign	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
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
R8249:Fkbp6	UTSW	5	135,378,806 (GRCm39)	missense	possibly damaging	0.54
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

Posted On

2015-12-18