Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Fkbp10'

224380

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

040007-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100306523-100315650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100306841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 78 (F78L)

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: F78L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: F78L

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: F78L

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

SMART Domains

Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
AA Change: F78L

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: F57L

SMART Domains

Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555
AA Change: F57L

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

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,005 (GRCm39)	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,248,494 (GRCm39)	V241I	probably benign	Het
Abca17	A	G	17: 24,504,700 (GRCm39)	I1233T	probably benign	Het
Acin1	T	C	14: 54,884,156 (GRCm39)		probably null	Het
Acly	A	T	11: 100,409,977 (GRCm39)	I185N	probably damaging	Het
Adamts16	T	C	13: 70,901,386 (GRCm39)	D897G	probably benign	Het
Allc	A	C	12: 28,613,482 (GRCm39)	D153E	probably benign	Het
Ankrd12	A	G	17: 66,291,879 (GRCm39)	S1185P	probably damaging	Het
Aoc1l2	A	T	6: 48,909,363 (GRCm39)	Q536L	probably damaging	Het
Ap1g2	T	C	14: 55,339,835 (GRCm39)	E448G	probably benign	Het
Atg9a	A	T	1: 75,166,270 (GRCm39)	V50D	probably benign	Het
Bace2	A	T	16: 97,216,289 (GRCm39)	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,199,283 (GRCm39)	K708E	probably damaging	Het
Card10	G	A	15: 78,678,175 (GRCm39)	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,547,271 (GRCm39)	V39E	probably damaging	Het
Cdh20	A	T	1: 109,976,668 (GRCm39)	D111V	probably damaging	Het
Cercam	C	A	2: 29,762,935 (GRCm39)	T223K	probably benign	Het
Cimip2a	T	G	2: 25,110,217 (GRCm39)	L43R	probably damaging	Het
Cog5	A	G	12: 31,710,848 (GRCm39)	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644 (GRCm39)	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,779,446 (GRCm39)	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 26,857,038 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,630,254 (GRCm39)	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,710,672 (GRCm39)	V287A	probably benign	Het
Dennd4c	A	G	4: 86,755,634 (GRCm39)	T1609A	probably benign	Het
Depdc5	T	A	5: 33,059,250 (GRCm39)		probably null	Het
Dhcr7	T	G	7: 143,401,167 (GRCm39)	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680 (GRCm39)	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,046,203 (GRCm39)	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,181,281 (GRCm39)	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,129,005 (GRCm39)	L205P	probably damaging	Het
Fam91a1	A	G	15: 58,296,044 (GRCm39)		probably null	Het
Fank1	C	T	7: 133,463,954 (GRCm39)	T50I	probably damaging	Het
Fhod3	A	G	18: 25,223,473 (GRCm39)	T940A	possibly damaging	Het
Gabbr2	A	C	4: 46,787,502 (GRCm39)	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,751,387 (GRCm39)	L138I	probably damaging	Het
Gm2832	T	A	14: 41,002,943 (GRCm39)		probably null	Het
Gm5084	T	A	13: 60,360,344 (GRCm39)		noncoding transcript	Het
Gm9979	T	C	13: 40,859,228 (GRCm39)		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241 (GRCm39)	S39P	probably damaging	Het
Hesx1	A	T	14: 26,723,340 (GRCm39)	N57Y	probably damaging	Het
Kcnh1	G	A	1: 191,959,243 (GRCm39)	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904 (GRCm39)	T1168A	possibly damaging	Het
Kng2	A	T	16: 22,843,626 (GRCm39)	F118I	possibly damaging	Het
Lig3	C	T	11: 82,678,492 (GRCm39)	P245S	probably benign	Het
Loxhd1	G	T	18: 77,383,465 (GRCm39)	W121C	probably damaging	Het
Ltn1	A	G	16: 87,178,525 (GRCm39)	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,473,882 (GRCm39)		probably null	Het
Mcm10	C	T	2: 4,998,571 (GRCm39)	V790M	probably damaging	Het
Mia3	A	T	1: 183,125,707 (GRCm39)	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,288,405 (GRCm39)	K150N	probably damaging	Het
Morn4	T	C	19: 42,064,977 (GRCm39)	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,037,195 (GRCm39)		probably null	Het
Myocd	G	A	11: 65,095,147 (GRCm39)	Q47*	probably null	Het
Nav2	T	A	7: 49,198,219 (GRCm39)	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,461,266 (GRCm39)	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003 (GRCm38)	G67V	probably benign	Het
Nlgn2	A	C	11: 69,718,876 (GRCm39)	V271G	probably damaging	Het
Or1o2	A	G	17: 37,542,523 (GRCm39)	V246A	probably damaging	Het
Or2l5	A	C	16: 19,333,792 (GRCm39)	V198G	probably damaging	Het
Pcolce2	A	T	9: 95,576,793 (GRCm39)	M355L	probably benign	Het
Per2	T	C	1: 91,368,581 (GRCm39)	E264G	probably damaging	Het
Phf2	A	G	13: 48,982,384 (GRCm39)	L113P	unknown	Het
Piwil2	A	G	14: 70,664,107 (GRCm39)	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plxnb2	C	T	15: 89,042,971 (GRCm39)	V1473I	probably benign	Het
Pms2	T	C	5: 143,850,518 (GRCm39)	L111P	probably damaging	Het
Polg	A	G	7: 79,108,979 (GRCm39)	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,774,093 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,778,671 (GRCm39)	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,913,072 (GRCm39)	Y207C	probably damaging	Het
Prkar2b	A	G	12: 32,013,934 (GRCm39)	V314A	probably damaging	Het
Proser1	T	A	3: 53,386,292 (GRCm39)	S725T	probably benign	Het
Psg20	A	G	7: 18,416,535 (GRCm39)	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,496 (GRCm39)	I2255V	probably damaging	Het
Sardh	T	G	2: 27,134,409 (GRCm39)	T36P	probably damaging	Het
Sec23a	T	A	12: 59,048,793 (GRCm39)	I110L	probably benign	Het
Slc22a29	T	A	19: 8,195,162 (GRCm39)	I158L	probably benign	Het
Slc35c1	T	C	2: 92,284,984 (GRCm39)	D210G	probably benign	Het
Syde2	A	G	3: 145,704,746 (GRCm39)	N566S	probably benign	Het
Tcf20	G	A	15: 82,741,431 (GRCm39)	Q7*	probably null	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,192,350 (GRCm39)	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,420,973 (GRCm39)	Y29C	probably damaging	Het
Traf3	A	G	12: 111,227,095 (GRCm39)	K328E	probably benign	Het
Uaca	A	G	9: 60,777,623 (GRCm39)	E668G	probably damaging	Het
Ube2o	T	A	11: 116,436,163 (GRCm39)	E326V	probably damaging	Het
Ubr1	C	T	2: 120,776,754 (GRCm39)		probably null	Het
Vmn1r19	T	A	6: 57,382,033 (GRCm39)	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,196,473 (GRCm39)	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,292,880 (GRCm39)	D307E	probably damaging	Het
Wdfy3	T	C	5: 102,116,812 (GRCm39)	D76G	probably damaging	Het
Zan	A	T	5: 137,401,376 (GRCm39)	C4114*	probably null	Het
Zbed6	A	G	1: 133,584,451 (GRCm39)	L962P	probably damaging	Het
Zdhhc23	A	T	16: 43,799,305 (GRCm39)	C37S	probably damaging	Het
Zfp628	G	T	7: 4,921,831 (GRCm39)	G18W	probably damaging	Het
Zfp712	T	A	13: 67,190,114 (GRCm39)	K138*	probably null	Het
Zfp867	A	T	11: 59,354,417 (GRCm39)	V304D	probably damaging	Het
Zfp870	T	C	17: 33,103,027 (GRCm39)	T102A	possibly damaging	Het
Zmym5	G	A	14: 57,035,210 (GRCm39)	S286L	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
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

Predicted Primers

PCR Primer
(F):5'- CATACTGCCGTTGCTGTTGC -3'
(R):5'- CTGAGCATCAAATATTCCAGGGG -3'

Sequencing Primer
(F):5'- TTGCTTCTACAGACCTTGGAG -3'
(R):5'- CATCAAATATTCCAGGGGGCTAG -3'

Posted On

2014-08-25