Mutagenetix > Incidental Mutation

Incidental Mutation 'R5696:Fkbp10'

450689

Institutional Source

Beutler Lab

Gene Symbol

Fkbp10

Ensembl Gene

ENSMUSG00000001555

Gene Name

FK506 binding protein 10

Synonyms

Fkbp-rs1, Fkbp1-rs, FKBP65, Fkbp6, 65kDa

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100306523-100315650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100314352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 384 (W384L)

Ref Sequence

ENSEMBL: ENSMUSP00000103023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001595] [ENSMUST00000107398] [ENSMUST00000107399] [ENSMUST00000107400]

AlphaFold

Q61576

Predicted Effect

probably damaging
Transcript: ENSMUST00000001595
AA Change: W496L

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

SMART Domains

Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: W496L

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:FKBP_C	54	146	5.4e-30	PFAM
Pfam:FKBP_C	166	258	4e-29	PFAM
Pfam:FKBP_C	278	370	2.3e-28	PFAM
Pfam:FKBP_C	391	482	6.2e-26	PFAM
EFh	503	528	2.16e0	SMART
EFh	545	573	2.04e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107398

SMART Domains

Protein: ENSMUSP00000103021
Gene: ENSMUSG00000017176

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	44	261	3.5e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107399

SMART Domains

Protein: ENSMUSP00000103022
Gene: ENSMUSG00000017176

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	44	261	3.5e-108	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107400
AA Change: W384L

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

SMART Domains

Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
AA Change: W384L

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:FKBP_C	54	146	1.4e-29	PFAM
Pfam:FKBP_C	166	258	2e-29	PFAM
Pfam:FKBP_C	279	370	4.9e-26	PFAM
EFh	391	416	2.16e0	SMART
EFh	433	461	2.04e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125616

Predicted Effect

probably benign
Transcript: ENSMUST00000134815

SMART Domains

Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	34	65	1.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139084

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice do not survive birth, and embryos exhibit delayed growth, tissue fragility, decreased aorta wall thickness, craniofacial and forelimb anomalies, and connective tissue alterations. Mutant MEFs retain procollagen in the cell layer and show dilated endoplasmic reticulum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,569,159 (GRCm39)	R186W	probably benign	Het
Afg3l2	A	G	18: 67,540,529 (GRCm39)	I660T	probably damaging	Het
Amtn	T	A	5: 88,532,944 (GRCm39)	Y186*	probably null	Het
Atosa	A	G	9: 74,917,399 (GRCm39)	E666G	probably benign	Het
Atrip	A	G	9: 108,894,569 (GRCm39)	S453P	possibly damaging	Het
Bahcc1	T	C	11: 120,164,813 (GRCm39)	L840P	probably damaging	Het
Capn2	T	C	1: 182,306,165 (GRCm39)	E527G	possibly damaging	Het
Caprin2	A	T	6: 148,779,316 (GRCm39)	Y164N	possibly damaging	Het
Ccnh	T	A	13: 85,344,446 (GRCm39)		probably null	Het
Cdon	G	T	9: 35,403,162 (GRCm39)	V1091F	possibly damaging	Het
Ceacam14	A	G	7: 17,548,267 (GRCm39)	Y119C	probably damaging	Het
Ces2h	A	G	8: 105,745,611 (GRCm39)	K445E	possibly damaging	Het
Cfap46	A	G	7: 139,191,947 (GRCm39)	S2357P	probably damaging	Het
Commd4	A	T	9: 57,063,499 (GRCm39)	S86R	possibly damaging	Het
Cpsf6	A	T	10: 117,196,934 (GRCm39)		probably benign	Het
Dag1	A	T	9: 108,086,646 (GRCm39)	V165E	probably benign	Het
Dmxl1	A	T	18: 50,065,008 (GRCm39)	K2618*	probably null	Het
Dnah17	A	G	11: 117,991,882 (GRCm39)	Y1229H	probably benign	Het
Endov	T	A	11: 119,382,625 (GRCm39)	L24Q	probably damaging	Het
Fap	C	T	2: 62,332,803 (GRCm39)	V717M	probably damaging	Het
Fbxl2	A	G	9: 113,815,546 (GRCm39)	L239P	probably damaging	Het
Fbxl5	A	T	5: 43,916,182 (GRCm39)	V367D	possibly damaging	Het
Gbp8	C	T	5: 105,166,682 (GRCm39)	V216I	possibly damaging	Het
Gclm	G	A	3: 122,059,936 (GRCm39)	A239T	probably benign	Het
Gm11569	C	T	11: 99,689,556 (GRCm39)		probably benign	Het
Gnas	C	A	2: 174,141,468 (GRCm39)		probably benign	Het
Grb10	T	A	11: 11,883,566 (GRCm39)	N508I	probably benign	Het
Gykl1	T	G	18: 52,827,267 (GRCm39)	I158M	probably benign	Het
Ide	G	A	19: 37,295,420 (GRCm39)	T214M	unknown	Het
Il12rb2	T	A	6: 67,272,262 (GRCm39)	Q341H	possibly damaging	Het
Ints1	T	C	5: 139,740,744 (GRCm39)	E1946G	probably benign	Het
Kdelr3	T	C	15: 79,410,100 (GRCm39)		probably null	Het
Kif1b	A	C	4: 149,358,306 (GRCm39)		probably null	Het
Kri1	A	G	9: 21,191,533 (GRCm39)	I320T	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,486,646 (GRCm39)	S111P	probably benign	Het
Lpcat2b	C	A	5: 107,580,773 (GRCm39)	P34Q	probably damaging	Het
Ltk	T	A	2: 119,590,080 (GRCm39)	T49S	probably benign	Het
Map3k9	A	T	12: 81,780,896 (GRCm39)	H421Q	probably benign	Het
Mapkbp1	T	A	2: 119,852,201 (GRCm39)		probably null	Het
Mcm4	A	G	16: 15,443,434 (GRCm39)	S830P	probably damaging	Het
Nek10	T	A	14: 14,860,736 (GRCm38)		probably null	Het
Nlrp9b	A	T	7: 19,758,417 (GRCm39)	R551S	probably benign	Het
Nol4l	T	C	2: 153,260,026 (GRCm39)	T143A	probably damaging	Het
Or1r1	T	C	11: 73,875,362 (GRCm39)	H24R	possibly damaging	Het
Or51g1	T	A	7: 102,633,748 (GRCm39)	T208S	probably benign	Het
Or6z5	T	C	7: 6,477,742 (GRCm39)		probably null	Het
Or7a39	A	T	10: 78,715,919 (GRCm39)	R304S	probably benign	Het
Pde4dip	G	T	3: 97,616,806 (GRCm39)	A1812D	probably damaging	Het
Plekhb1	C	A	7: 100,305,960 (GRCm39)	G26C	probably damaging	Het
Polr1a	T	A	6: 71,906,410 (GRCm39)	F409I	probably benign	Het
Ptpn13	T	A	5: 103,702,625 (GRCm39)	M1197K	probably benign	Het
Qrich2	T	C	11: 116,335,828 (GRCm39)	I2114V	probably damaging	Het
Rbm27	T	C	18: 42,450,731 (GRCm39)	Y449H	probably damaging	Het
Rp1l1	A	G	14: 64,267,195 (GRCm39)	D927G	probably damaging	Het
Secisbp2	C	A	13: 51,833,857 (GRCm39)	Q666K	probably damaging	Het
Slc45a2	T	C	15: 11,001,219 (GRCm39)	I106T	probably damaging	Het
Slx4	G	T	16: 3,797,831 (GRCm39)	Q1518K	probably damaging	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Son	T	C	16: 91,468,301 (GRCm39)	V306A	possibly damaging	Het
Stab1	A	G	14: 30,882,178 (GRCm39)	S506P	probably benign	Het
Syne2	A	C	12: 76,040,919 (GRCm39)	D3859A	probably benign	Het
Tab1	T	A	15: 80,032,930 (GRCm39)	Y71*	probably null	Het
Tarbp1	A	C	8: 127,174,079 (GRCm39)	M909R	probably damaging	Het
Tex15	T	G	8: 34,063,220 (GRCm39)	S1157R	probably benign	Het
Tnni3	G	A	7: 4,523,453 (GRCm39)	T120I	probably benign	Het
Ttn	T	C	2: 76,747,888 (GRCm39)	E4387G	probably benign	Het
Ugt3a1	G	A	15: 9,361,534 (GRCm39)		silent	Het
Unc5d	T	C	8: 29,156,870 (GRCm39)	I783V	probably benign	Het
Usp40	T	C	1: 87,923,474 (GRCm39)	T266A	probably benign	Het
Vmn2r59	C	T	7: 41,695,468 (GRCm39)	V315I	probably benign	Het
Zbtb48	G	T	4: 152,105,067 (GRCm39)	H532N	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het

Other mutations in Fkbp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Fkbp10	APN	11	100,312,643 (GRCm39)	missense	probably benign	0.00
IGL02390:Fkbp10	APN	11	100,306,843 (GRCm39)	missense	probably damaging	1.00
IGL02424:Fkbp10	APN	11	100,306,782 (GRCm39)	missense	probably damaging	1.00
IGL02728:Fkbp10	APN	11	100,306,803 (GRCm39)	missense	probably damaging	1.00
IGL02737:Fkbp10	APN	11	100,313,481 (GRCm39)	missense	probably benign	0.25
IGL03143:Fkbp10	APN	11	100,313,580 (GRCm39)	missense	probably benign	0.06
R0479:Fkbp10	UTSW	11	100,306,740 (GRCm39)	missense	probably damaging	1.00
R1733:Fkbp10	UTSW	11	100,314,757 (GRCm39)	missense	probably benign	0.20
R1817:Fkbp10	UTSW	11	100,306,715 (GRCm39)	missense	probably benign	0.13
R1819:Fkbp10	UTSW	11	100,306,715 (GRCm39)	missense	probably benign	0.13
R1831:Fkbp10	UTSW	11	100,314,045 (GRCm39)	missense	probably damaging	1.00
R1997:Fkbp10	UTSW	11	100,306,841 (GRCm39)	missense	probably damaging	1.00
R2017:Fkbp10	UTSW	11	100,312,499 (GRCm39)	missense	possibly damaging	0.77
R3758:Fkbp10	UTSW	11	100,313,451 (GRCm39)	critical splice acceptor site	probably null
R5163:Fkbp10	UTSW	11	100,313,925 (GRCm39)	missense	probably benign	0.03
R5437:Fkbp10	UTSW	11	100,311,849 (GRCm39)	missense	probably damaging	1.00
R5666:Fkbp10	UTSW	11	100,314,352 (GRCm39)	missense	probably damaging	1.00
R5698:Fkbp10	UTSW	11	100,314,352 (GRCm39)	missense	probably damaging	1.00
R5706:Fkbp10	UTSW	11	100,311,849 (GRCm39)	missense	probably damaging	1.00
R7084:Fkbp10	UTSW	11	100,312,129 (GRCm39)	missense	possibly damaging	0.56
R7405:Fkbp10	UTSW	11	100,306,707 (GRCm39)	missense	probably damaging	1.00
R7780:Fkbp10	UTSW	11	100,312,048 (GRCm39)	missense	probably damaging	1.00
R8237:Fkbp10	UTSW	11	100,306,785 (GRCm39)	missense	probably damaging	1.00
R8886:Fkbp10	UTSW	11	100,312,862 (GRCm39)	missense	probably damaging	1.00
R8978:Fkbp10	UTSW	11	100,313,936 (GRCm39)	missense	probably benign	0.19
R9484:Fkbp10	UTSW	11	100,313,960 (GRCm39)	missense	probably damaging	1.00
R9505:Fkbp10	UTSW	11	100,306,826 (GRCm39)	nonsense	probably null
R9590:Fkbp10	UTSW	11	100,306,785 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGTTAAACACCCCGTGCC -3'
(R):5'- ACCCAGAGGATTTGGGTCTG -3'

Sequencing Primer
(F):5'- CGTGCCCCTTCCATAAGAG -3'
(R):5'- ACAGGCTGCATGCACAGTG -3'

Posted On

2017-01-03