Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Fkbp10'

428437

Institutional Source

Beutler Lab

Gene Symbol

Fkbp10

Ensembl Gene

ENSMUSG00000001555

Gene Name

FK506 binding protein 10

Synonyms

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

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100415697-100424824 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100421023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 174 (D174A)

Ref Sequence

ENSEMBL: ENSMUSP00000001595 (fasta)

Gene Model

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

AlphaFold

Q61576

Predicted Effect

probably damaging
Transcript: ENSMUST00000001595
AA Change: D174A

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

SMART Domains

Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: D174A

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: D174A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
AA Change: D174A

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

Meta Mutation Damage Score

0.7749

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	probably benign	Het

Other mutations in Fkbp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Fkbp10	APN	11	100421817	missense	probably benign	0.00
IGL02390:Fkbp10	APN	11	100416017	missense	probably damaging	1.00
IGL02424:Fkbp10	APN	11	100415956	missense	probably damaging	1.00
IGL02728:Fkbp10	APN	11	100415977	missense	probably damaging	1.00
IGL02737:Fkbp10	APN	11	100422655	missense	probably benign	0.25
IGL03143:Fkbp10	APN	11	100422754	missense	probably benign	0.06
R0479:Fkbp10	UTSW	11	100415914	missense	probably damaging	1.00
R1733:Fkbp10	UTSW	11	100423931	missense	probably benign	0.20
R1817:Fkbp10	UTSW	11	100415889	missense	probably benign	0.13
R1819:Fkbp10	UTSW	11	100415889	missense	probably benign	0.13
R1831:Fkbp10	UTSW	11	100423219	missense	probably damaging	1.00
R1997:Fkbp10	UTSW	11	100416015	missense	probably damaging	1.00
R2017:Fkbp10	UTSW	11	100421673	missense	possibly damaging	0.77
R3758:Fkbp10	UTSW	11	100422625	critical splice acceptor site	probably null
R5163:Fkbp10	UTSW	11	100423099	missense	probably benign	0.03
R5666:Fkbp10	UTSW	11	100423526	missense	probably damaging	1.00
R5696:Fkbp10	UTSW	11	100423526	missense	probably damaging	1.00
R5698:Fkbp10	UTSW	11	100423526	missense	probably damaging	1.00
R5706:Fkbp10	UTSW	11	100421023	missense	probably damaging	1.00
R7084:Fkbp10	UTSW	11	100421303	missense	possibly damaging	0.56
R7405:Fkbp10	UTSW	11	100415881	missense	probably damaging	1.00
R7780:Fkbp10	UTSW	11	100421222	missense	probably damaging	1.00
R8237:Fkbp10	UTSW	11	100415959	missense	probably damaging	1.00
R8886:Fkbp10	UTSW	11	100422036	missense	probably damaging	1.00
R8978:Fkbp10	UTSW	11	100423110	missense	probably benign	0.19
R9484:Fkbp10	UTSW	11	100423134	missense	probably damaging	1.00
R9505:Fkbp10	UTSW	11	100416000	nonsense	probably null
R9590:Fkbp10	UTSW	11	100415959	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTTGTGTAAACCCCACCTC -3'
(R):5'- ATGCCTTTGATCAGCCAACCAG -3'

Sequencing Primer
(F):5'- GTGTAAACCCCACCTCTGCTG -3'
(R):5'- ATGTAGGTGTCATAAGTGCCTCCC -3'

Posted On

2016-09-01