Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02728:Fkbp10'

305330

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

100306523-100315650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100306803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 65 (R65L)

Ref Sequence

ENSEMBL: ENSMUSP00000103023 (fasta)

Gene Model

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

AlphaFold

Q61576

Predicted Effect

probably damaging
Transcript: ENSMUST00000001595
AA Change: R65L

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

SMART Domains

Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: R65L

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 damaging
Transcript: ENSMUST00000107400
AA Change: R65L

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

SMART Domains

Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
AA Change: R65L

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

unknown
Transcript: ENSMUST00000134815
AA Change: R44L

SMART Domains

Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555
AA Change: R44L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139084

Predicted Effect

probably benign
Transcript: ENSMUST00000141840

Coding Region Coverage

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,073,880 (GRCm39)		probably benign	Het
Als2	A	G	1: 59,235,506 (GRCm39)	V726A	probably benign	Het
Apba1	G	A	19: 23,922,269 (GRCm39)	G779E	possibly damaging	Het
Atr	T	A	9: 95,818,528 (GRCm39)	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,983,846 (GRCm39)	K566E	probably damaging	Het
Btd	T	C	14: 31,389,319 (GRCm39)	F347L	probably benign	Het
Btg2	T	C	1: 134,006,643 (GRCm39)		probably benign	Het
Cblb	T	A	16: 52,003,672 (GRCm39)	S717T	probably benign	Het
Cep250	T	A	2: 155,825,198 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,828,968 (GRCm39)	N312S	probably benign	Het
Clasp1	A	T	1: 118,530,107 (GRCm39)	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,813,172 (GRCm39)	C2906S	probably benign	Het
Csmd1	C	T	8: 16,049,779 (GRCm39)		probably null	Het
Cspg4	T	A	9: 56,793,765 (GRCm39)	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,126,739 (GRCm39)	D469V	probably damaging	Het
Dhh	A	T	15: 98,792,192 (GRCm39)		probably null	Het
Dhrs3	A	G	4: 144,646,642 (GRCm39)	R231G	probably damaging	Het
Disp3	A	G	4: 148,356,495 (GRCm39)	S122P	probably damaging	Het
Dnah1	T	C	14: 31,005,955 (GRCm39)	I2275V	probably benign	Het
Dock8	A	C	19: 25,109,584 (GRCm39)	N922T	probably benign	Het
Eef1d	A	G	15: 75,774,945 (GRCm39)	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,763,510 (GRCm39)	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,505,502 (GRCm39)		probably benign	Het
Emb	A	G	13: 117,369,301 (GRCm39)	M50V	probably benign	Het
Eml4	T	C	17: 83,780,568 (GRCm39)		probably null	Het
Gm5878	T	C	6: 85,095,574 (GRCm39)	N83S	probably benign	Het
Gm8165	C	T	14: 43,913,694 (GRCm39)	A57T	unknown	Het
Gpr179	A	G	11: 97,228,726 (GRCm39)	V1143A	probably damaging	Het
Hat1	T	C	2: 71,251,604 (GRCm39)	Y218H	probably damaging	Het
Hfm1	T	A	5: 107,026,689 (GRCm39)	N885I	probably benign	Het
Ift70a1	T	A	2: 75,811,193 (GRCm39)	M297L	probably benign	Het
Inha	T	C	1: 75,486,091 (GRCm39)	S129P	probably damaging	Het
Ints9	T	C	14: 65,230,457 (GRCm39)	I128T	probably damaging	Het
Klra9	T	C	6: 130,168,149 (GRCm39)		probably null	Het
Lrba	A	G	3: 86,683,356 (GRCm39)	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,691,410 (GRCm39)	N3356D	probably benign	Het
Map3k5	A	G	10: 19,994,038 (GRCm39)	D1008G	possibly damaging	Het
Med4	T	A	14: 73,755,415 (GRCm39)	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,557,716 (GRCm39)	V254A	possibly damaging	Het
Napg	C	T	18: 63,127,375 (GRCm39)		probably benign	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or5k1	C	T	16: 58,617,843 (GRCm39)	R122H	probably benign	Het
Or7g33	A	G	9: 19,449,142 (GRCm39)	F28S	possibly damaging	Het
Or8d2	T	C	9: 38,760,222 (GRCm39)	S271P	probably damaging	Het
Or9r3	T	A	10: 129,948,487 (GRCm39)	R57S	probably damaging	Het
Pias1	T	A	9: 62,830,926 (GRCm39)	S161C	probably damaging	Het
Pias1	G	T	9: 62,830,927 (GRCm39)	N160K	possibly damaging	Het
Pigp	G	A	16: 94,168,466 (GRCm39)	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,020,065 (GRCm39)	V1070E	probably benign	Het
Pramel51	G	T	12: 88,142,792 (GRCm39)	H275Q	probably benign	Het
Prepl	T	C	17: 85,378,010 (GRCm39)	T457A	probably damaging	Het
Psg23	G	A	7: 18,340,853 (GRCm39)	A467V	probably benign	Het
Rad54l	T	C	4: 115,980,146 (GRCm39)	R13G	probably benign	Het
Rassf5	T	C	1: 131,108,336 (GRCm39)	D248G	probably damaging	Het
Rspo1	A	G	4: 124,898,955 (GRCm39)	N92S	probably damaging	Het
Scube1	G	A	15: 83,543,217 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,511,554 (GRCm39)	V616F	probably damaging	Het
Sema3a	T	C	5: 13,615,881 (GRCm39)	V435A	probably damaging	Het
Slc7a10	T	A	7: 34,897,123 (GRCm39)	I208N	probably damaging	Het
Stab2	A	T	10: 86,692,420 (GRCm39)	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,665,235 (GRCm39)	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,677,480 (GRCm39)	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,681,676 (GRCm39)	W570R	probably damaging	Het
Telo2	A	T	17: 25,323,628 (GRCm39)	F600I	probably damaging	Het
Trim36	T	A	18: 46,305,669 (GRCm39)	H426L	probably benign	Het
Trpm6	A	T	19: 18,787,016 (GRCm39)	N531Y	possibly damaging	Het
Ttc39a	T	C	4: 109,299,920 (GRCm39)	C470R	probably damaging	Het
Ttn	C	T	2: 76,615,283 (GRCm39)	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,196,122 (GRCm39)	I1253F	probably damaging	Het
Unc79	A	T	12: 103,088,688 (GRCm39)	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,691,998 (GRCm39)	C89S	probably benign	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	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
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
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

Posted On

2015-04-16