Mutagenetix > Incidental Mutation

Incidental Mutation 'R7405:Fkbp10'

574531

Institutional Source

Beutler Lab

Gene Symbol

Fkbp10

Ensembl Gene

ENSMUSG00000001555

Gene Name

FK506 binding protein 10

Synonyms

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

MMRRC Submission

045376-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100306523-100315650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100306707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 33 (A33V)

Ref Sequence

ENSEMBL: ENSMUSP00000001595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001595] [ENSMUST00000066489] [ENSMUST00000107400]

AlphaFold

Q61576

Predicted Effect

probably damaging
Transcript: ENSMUST00000001595
AA Change: A33V

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

SMART Domains

Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: A33V

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: ENSMUST00000066489

SMART Domains

Protein: ENSMUSP00000065278
Gene: ENSMUSG00000006931

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	56	70	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
internal_repeat_1	151	215	5.16e-8	PROSPERO
internal_repeat_1	302	364	5.16e-8	PROSPERO
low complexity region	385	408	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107400
AA Change: A33V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
AA Change: A33V

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

SMART Domains

Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555
AA Change: A12V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141840

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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
1700010I14Rik	G	T	17: 9,220,649 (GRCm39)	V383L	probably damaging	Het
4930507D05Rik	C	A	10: 62,285,563 (GRCm39)	H96N	unknown	Het
5730480H06Rik	T	C	5: 48,545,458 (GRCm39)	I235T	possibly damaging	Het
Abcb11	A	G	2: 69,117,963 (GRCm39)	Y472H	probably damaging	Het
Adam39	A	T	8: 41,277,659 (GRCm39)	I17L	probably benign	Het
Aire	T	C	10: 77,870,447 (GRCm39)	H458R	probably benign	Het
Ap3d1	T	C	10: 80,577,734 (GRCm39)	D31G	probably benign	Het
Atad2b	T	A	12: 4,993,232 (GRCm39)	H250Q	probably benign	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Borcs5	C	A	6: 134,662,945 (GRCm39)	T74N	probably benign	Het
Btbd16	C	T	7: 130,407,586 (GRCm39)	T292I	probably benign	Het
Catsperd	G	A	17: 56,939,335 (GRCm39)	V55M	possibly damaging	Het
Cfap107	T	C	4: 144,146,323 (GRCm39)	N110S	probably damaging	Het
Ctr9	T	C	7: 110,642,921 (GRCm39)	F462S	possibly damaging	Het
Cyp4f39	A	G	17: 32,700,789 (GRCm39)	S153G	probably benign	Het
Ddo	T	C	10: 40,523,993 (GRCm39)	C328R	possibly damaging	Het
Ddr1	A	G	17: 36,000,992 (GRCm39)	V251A	probably damaging	Het
Dis3l	A	G	9: 64,221,986 (GRCm39)	F475L	probably damaging	Het
Dkk4	G	A	8: 23,115,859 (GRCm39)	V99M	probably benign	Het
Dync1h1	C	T	12: 110,600,654 (GRCm39)	A1938V	probably damaging	Het
Ecel1	A	T	1: 87,081,238 (GRCm39)		probably null	Het
Fbxo7	T	A	10: 85,880,445 (GRCm39)	Y377N	probably damaging	Het
Fbxw24	T	C	9: 109,436,136 (GRCm39)	I299V	possibly damaging	Het
Gabra1	T	C	11: 42,045,850 (GRCm39)	T87A	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Golga3	A	T	5: 110,356,312 (GRCm39)	I1000F	probably damaging	Het
Grid2ip	T	C	5: 143,366,199 (GRCm39)	I563T	probably benign	Het
Gsx1	T	C	5: 147,125,943 (GRCm39)	S82P	possibly damaging	Het
Heg1	A	G	16: 33,583,819 (GRCm39)	K34E	possibly damaging	Het
Kank1	T	A	19: 25,387,683 (GRCm39)	L452*	probably null	Het
Lce1k	A	T	3: 92,714,181 (GRCm39)	M1K	probably null	Het
Lcmt2	A	G	2: 120,969,868 (GRCm39)	I185T	probably benign	Het
Lrp1	T	C	10: 127,417,620 (GRCm39)	D1046G	possibly damaging	Het
Lrrc37	A	T	11: 103,505,987 (GRCm39)	Y1994N	probably benign	Het
Mast3	A	T	8: 71,238,815 (GRCm39)	D496E	probably damaging	Het
Mst1r	C	T	9: 107,792,321 (GRCm39)	S925F	possibly damaging	Het
Mterf2	C	T	10: 84,956,360 (GRCm39)	G88D	probably damaging	Het
Mthfd1	T	C	12: 76,358,648 (GRCm39)	V783A	probably damaging	Het
Mybpc2	A	T	7: 44,156,618 (GRCm39)	W778R	probably damaging	Het
Nbea	A	G	3: 55,712,687 (GRCm39)	L2130P	possibly damaging	Het
Ndst4	A	G	3: 125,476,865 (GRCm39)	N30S	probably benign	Het
Nphs1	T	C	7: 30,162,253 (GRCm39)	V299A	possibly damaging	Het
Nup107	T	C	10: 117,606,320 (GRCm39)	D474G	probably benign	Het
Or10ag56	A	C	2: 87,139,339 (GRCm39)	I89L	probably benign	Het
Or10w1	T	C	19: 13,632,246 (GRCm39)	V151A	probably benign	Het
Or2w25	T	A	11: 59,504,899 (GRCm39)	F370I	possibly damaging	Het
Or7a42	T	C	10: 78,791,531 (GRCm39)	V164A	probably benign	Het
Pgap2	T	C	7: 101,880,595 (GRCm39)	V41A	probably benign	Het
Plekhh1	C	T	12: 79,101,821 (GRCm39)	T297I	probably benign	Het
Plxna4	A	T	6: 32,173,254 (GRCm39)	Y1226N	probably benign	Het
Polr3b	A	G	10: 84,520,043 (GRCm39)	D653G	probably benign	Het
Ppp2r2c	T	C	5: 37,104,486 (GRCm39)	F289L	possibly damaging	Het
Prickle2	A	G	6: 92,435,524 (GRCm39)	S82P	probably damaging	Het
Ptger2	T	A	14: 45,226,531 (GRCm39)	V37D	probably damaging	Het
Rasa2	G	A	9: 96,448,080 (GRCm39)	P526S	probably benign	Het
Rbm47	A	T	5: 66,183,838 (GRCm39)	I255N	probably damaging	Het
Sez6	A	T	11: 77,853,717 (GRCm39)	T296S	probably benign	Het
Slc2a9	T	A	5: 38,549,167 (GRCm39)	I316F	probably damaging	Het
Slc41a1	T	A	1: 131,766,884 (GRCm39)	V134D	probably damaging	Het
Slc5a7	A	T	17: 54,604,161 (GRCm39)	S2T	probably benign	Het
Slc9a4	C	T	1: 40,640,086 (GRCm39)	R293C	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Suco	A	G	1: 161,655,783 (GRCm39)	F1039L	possibly damaging	Het
Sycp1	A	G	3: 102,832,543 (GRCm39)	Y208H	possibly damaging	Het
Tpr	T	C	1: 150,317,878 (GRCm39)	S2129P	probably benign	Het
Trim34b	T	A	7: 103,985,690 (GRCm39)	S442T	probably damaging	Het
Ttn	A	T	2: 76,573,690 (GRCm39)	Y25734*	probably null	Het
Uchl5	C	T	1: 143,675,752 (GRCm39)	Q276*	probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Yeats2	T	A	16: 20,041,663 (GRCm39)	D1184E	probably damaging	Het
Zfat	G	A	15: 68,056,334 (GRCm39)	R241W	probably damaging	Het
Zfp646	T	A	7: 127,477,968 (GRCm39)	Y48*	probably null	Het
Zfp998	T	C	13: 66,579,118 (GRCm39)	Q455R	unknown	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
R5696: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
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'- TCCAGAGACTCTCAACCTGG -3'
(R):5'- CAGGAAAGTGGTGCTGAGTC -3'

Sequencing Primer
(F):5'- ATTCCACGTGGACCCGC -3'
(R):5'- TGCTGAGTCCGGGAGTGC -3'

Posted On

2019-09-13