Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00484:Fkbp6'

5525

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 #

IGL00484

Quality Score

Status

Chromosome

Chromosomal Location

135320558-135378898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 135368802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 213 (A213S)

Ref Sequence

ENSEMBL: ENSMUSP00000144460 (fasta)

Gene Model

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

AlphaFold

Q91XW8

Predicted Effect

probably benign
Transcript: ENSMUST00000044972
AA Change: A253S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043193
Gene: ENSMUSG00000040013
AA Change: A253S

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: ENSMUST00000201534
AA Change: A253S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144471
Gene: ENSMUSG00000040013
AA Change: A253S

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
AA Change: A253S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144381
Gene: ENSMUSG00000040013
AA Change: A253S

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: A213S

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144460
Gene: ENSMUSG00000040013
AA Change: A213S

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	A	G	7: 139,455,860 (GRCm39)	Q496R	probably benign	Het
Ankrd17	A	T	5: 90,416,220 (GRCm39)	S1151T	probably damaging	Het
Ankrd55	A	G	13: 112,504,328 (GRCm39)	K330R	probably benign	Het
Anln	A	T	9: 22,272,120 (GRCm39)	Y666*	probably null	Het
Atp1a2	A	G	1: 172,103,569 (GRCm39)	W984R	probably damaging	Het
Atp8b3	G	T	10: 80,361,998 (GRCm39)		probably benign	Het
Casc3	A	G	11: 98,714,028 (GRCm39)	E420G	possibly damaging	Het
Cep250	G	A	2: 155,833,249 (GRCm39)	D1724N	probably benign	Het
Dhx15	T	G	5: 52,324,154 (GRCm39)	E379D	probably benign	Het
Dock1	T	A	7: 134,748,260 (GRCm39)		probably benign	Het
Exph5	C	T	9: 53,288,006 (GRCm39)	Q1696*	probably null	Het
Fndc4	A	G	5: 31,450,840 (GRCm39)		probably benign	Het
Gli3	A	T	13: 15,818,977 (GRCm39)	T260S	possibly damaging	Het
Glmp	T	A	3: 88,233,169 (GRCm39)		probably null	Het
H2ac22	G	T	13: 21,971,091 (GRCm39)	R100S	probably benign	Het
Hapstr1	T	C	16: 8,649,175 (GRCm39)		probably benign	Het
Ighv1-19	G	A	12: 114,672,329 (GRCm39)	T97I	probably benign	Het
Kdm6b	T	C	11: 69,297,132 (GRCm39)	S407G	possibly damaging	Het
Lrp1b	T	C	2: 41,000,873 (GRCm39)	Y2231C	probably damaging	Het
Lyst	T	A	13: 13,884,188 (GRCm39)	S2999T	probably benign	Het
Lztr1	T	C	16: 17,335,314 (GRCm39)		probably benign	Het
N4bp2	T	C	5: 65,964,867 (GRCm39)	V972A	probably damaging	Het
Ncoa6	A	T	2: 155,248,128 (GRCm39)	S1725R	probably damaging	Het
Nfkbiz	A	G	16: 55,638,272 (GRCm39)	V396A	probably benign	Het
Nup205	A	G	6: 35,191,737 (GRCm39)	Q1074R	probably damaging	Het
Pard3	T	C	8: 128,098,327 (GRCm39)	V456A	probably benign	Het
Peli1	T	A	11: 21,096,952 (GRCm39)	V114E	probably damaging	Het
Phf20l1	T	G	15: 66,487,482 (GRCm39)		probably benign	Het
Pik3r1	A	C	13: 101,838,255 (GRCm39)	I267S	probably benign	Het
Polh	C	T	17: 46,483,169 (GRCm39)		probably benign	Het
Ppl	A	G	16: 4,905,816 (GRCm39)	I1493T	probably benign	Het
Pramel19	T	C	4: 101,798,898 (GRCm39)	F290L	probably benign	Het
Pramel28	G	A	4: 143,693,184 (GRCm39)		probably benign	Het
Prg3	A	G	2: 84,819,091 (GRCm39)	I6V	probably benign	Het
Ptprg	T	C	14: 12,215,220 (GRCm38)	V1069A	probably damaging	Het
Rasal2	A	T	1: 157,001,745 (GRCm39)		probably null	Het
Slc36a2	A	T	11: 55,053,614 (GRCm39)	Y341*	probably null	Het
Snapc3	A	G	4: 83,354,633 (GRCm39)	I215V	probably damaging	Het
Srrm2	T	A	17: 24,037,492 (GRCm39)	S1475T	probably benign	Het
Sycp2	A	T	2: 178,024,141 (GRCm39)	D414E	probably damaging	Het
Tanc1	A	G	2: 59,623,520 (GRCm39)	T468A	probably benign	Het
Tfap2d	A	G	1: 19,213,105 (GRCm39)	T310A	probably benign	Het
Tgfbr2	T	A	9: 115,987,357 (GRCm39)	I51F	probably benign	Het
Trip11	A	T	12: 101,851,570 (GRCm39)	C546*	probably null	Het
Ttbk2	C	T	2: 120,604,367 (GRCm39)	W210*	probably null	Het
Upk1b	T	G	16: 38,600,378 (GRCm39)	N201H	possibly damaging	Het
Uqcc5	T	A	14: 30,810,879 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 188,514,710 (GRCm39)	T3180S	probably benign	Het
Vps13d	T	G	4: 144,853,145 (GRCm39)	Q2323P	probably benign	Het
Zfp810	A	T	9: 22,189,605 (GRCm39)	Y434*	probably null	Het

Other mutations in Fkbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20