Mutagenetix > Incidental Mutation

Incidental Mutation 'R3953:Fkbp8'

308053

Institutional Source

Beutler Lab

Gene Symbol

Fkbp8

Ensembl Gene

ENSMUSG00000019428

Gene Name

FK506 binding protein 8

Synonyms

Fkbp38, 38kDa

MMRRC Submission

040830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3953 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70980374-70987978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70987517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 376 (S376A)

Ref Sequence

ENSEMBL: ENSMUSP00000114069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075491] [ENSMUST00000093454] [ENSMUST00000119353] [ENSMUST00000119698] [ENSMUST00000134893] [ENSMUST00000210155]

AlphaFold

O35465

Predicted Effect

probably damaging
Transcript: ENSMUST00000075491
AA Change: S376A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428
AA Change: S376A

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
Pfam:FKBP_C	103	192	1.4e-16	PFAM
Blast:TPR	212	245	2e-12	BLAST
low complexity region	253	259	N/A	INTRINSIC
Pfam:TPR_1	263	296	5.4e-7	PFAM
Pfam:TPR_2	263	296	3.8e-5	PFAM
Pfam:TPR_16	267	331	3e-11	PFAM
Pfam:TPR_9	270	344	1.3e-7	PFAM
Pfam:TPR_19	273	340	1.6e-8	PFAM
Pfam:TPR_1	297	330	5.4e-8	PFAM
Pfam:TPR_2	297	330	1.3e-7	PFAM
Pfam:TPR_8	297	330	9e-7	PFAM
Pfam:TPR_14	297	340	2.1e-7	PFAM
transmembrane domain	381	400	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093454

SMART Domains

Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002

Domain	Start	End	E-Value	Type
Pfam:ELL	6	289	2.2e-107	PFAM
low complexity region	403	416	N/A	INTRINSIC
low complexity region	427	445	N/A	INTRINSIC
low complexity region	447	471	N/A	INTRINSIC
Pfam:Occludin_ELL	494	595	6.4e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119353
AA Change: S375A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428
AA Change: S375A

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
Pfam:FKBP_C	103	191	1.3e-15	PFAM
Pfam:TPR_11	209	293	3.4e-9	PFAM
Pfam:TPR_1	262	295	6.5e-7	PFAM
Pfam:TPR_2	262	295	3.9e-5	PFAM
Pfam:TPR_16	266	330	1.4e-11	PFAM
Pfam:TPR_9	269	343	1.5e-7	PFAM
Pfam:TPR_19	272	339	8.6e-9	PFAM
Pfam:TPR_11	294	358	2.6e-9	PFAM
Pfam:TPR_1	296	329	6.6e-8	PFAM
Pfam:TPR_2	296	329	1.3e-7	PFAM
Pfam:TPR_8	296	330	5.5e-7	PFAM
transmembrane domain	380	399	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119698
AA Change: S376A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428
AA Change: S376A

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
Pfam:FKBP_C	103	192	6.4e-16	PFAM
Pfam:TPR_11	210	294	3.4e-9	PFAM
Pfam:TPR_1	263	296	6.5e-7	PFAM
Pfam:TPR_2	263	296	3.9e-5	PFAM
Pfam:TPR_16	267	331	1.4e-11	PFAM
Pfam:TPR_9	270	344	1.5e-7	PFAM
Pfam:TPR_19	273	340	8.6e-9	PFAM
Pfam:TPR_11	295	359	2.6e-9	PFAM
Pfam:TPR_1	297	330	6.6e-8	PFAM
Pfam:TPR_2	297	330	1.3e-7	PFAM
Pfam:TPR_8	297	331	5.6e-7	PFAM
transmembrane domain	381	400	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134299

Predicted Effect

probably benign
Transcript: ENSMUST00000134893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144766

Predicted Effect

probably benign
Transcript: ENSMUST00000210155

Meta Mutation Damage Score

0.0897

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality, ventralization of neural cell fates, caudal neural tube dilation, and small eyes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Adgrf1	A	G	17: 43,621,098 (GRCm39)	N445S	probably benign	Het
Aldh7a1	C	A	18: 56,681,577 (GRCm39)	V198L	probably damaging	Het
Ank2	A	T	3: 126,781,809 (GRCm39)	D6E	probably damaging	Het
Arhgap31	A	G	16: 38,423,826 (GRCm39)	F747L	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cadps	T	C	14: 12,505,937 (GRCm38)	D711G	probably damaging	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Cyp4f18	C	T	8: 72,754,801 (GRCm39)	R148H	probably damaging	Het
Dennd4a	C	A	9: 64,759,857 (GRCm39)	P321T	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	G	A	11: 69,344,929 (GRCm39)	T2715M	probably damaging	Het
Evc2	T	C	5: 37,537,931 (GRCm39)		probably null	Het
Gucy1a2	T	C	9: 3,582,704 (GRCm39)		probably benign	Het
Gys1	C	T	7: 45,089,470 (GRCm39)	P274S	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Herc1	C	T	9: 66,341,075 (GRCm39)	Q1731*	probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lnx1	T	C	5: 74,766,750 (GRCm39)	T455A	probably benign	Het
Mast2	A	T	4: 116,170,926 (GRCm39)	H612Q	probably damaging	Het
Mcm9	G	A	10: 53,439,440 (GRCm39)	H578Y	probably damaging	Het
Mefv	A	G	16: 3,533,264 (GRCm39)	S336P	possibly damaging	Het
Micu1	A	T	10: 59,586,326 (GRCm39)	H134L	probably benign	Het
Mrgprb2	C	T	7: 48,202,116 (GRCm39)	G203D	possibly damaging	Het
Ncapd2	T	C	6: 125,147,697 (GRCm39)	I1179V	probably damaging	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5b119	G	A	19: 13,456,806 (GRCm39)	S252L	probably benign	Het
Pcnx3	A	G	19: 5,733,808 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,103,145 (GRCm39)		probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptprb	A	G	10: 116,177,399 (GRCm39)	N1320S	probably benign	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Robo1	A	G	16: 72,821,226 (GRCm39)	D1331G	probably damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Slc44a5	A	G	3: 153,877,209 (GRCm39)	D13G	probably benign	Het
Slco1a1	A	T	6: 141,868,833 (GRCm39)	M377K	probably damaging	Het
St18	T	A	1: 6,873,117 (GRCm39)	L284Q	probably damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tln2	G	A	9: 67,277,911 (GRCm39)	P368S	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Tmf1	C	A	6: 97,153,167 (GRCm39)	R302L	probably damaging	Het
Tnip3	A	T	6: 65,574,379 (GRCm39)	T137S	possibly damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Vps13d	A	G	4: 144,875,450 (GRCm39)	S1686P	probably damaging	Het
Wdr41	A	G	13: 95,133,571 (GRCm39)	E75G	probably damaging	Het

Other mutations in Fkbp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Fkbp8	APN	8	70,987,211 (GRCm39)	missense	probably damaging	1.00
IGL01832:Fkbp8	APN	8	70,984,195 (GRCm39)	missense	probably benign	0.24
R0738:Fkbp8	UTSW	8	70,982,320 (GRCm39)	missense	probably damaging	1.00
R1631:Fkbp8	UTSW	8	70,984,282 (GRCm39)	missense	probably damaging	1.00
R1845:Fkbp8	UTSW	8	70,983,685 (GRCm39)	splice site	probably null
R3951:Fkbp8	UTSW	8	70,985,311 (GRCm39)	missense	probably damaging	1.00
R3956:Fkbp8	UTSW	8	70,987,517 (GRCm39)	missense	probably damaging	0.97
R3957:Fkbp8	UTSW	8	70,987,517 (GRCm39)	missense	probably damaging	0.97
R4965:Fkbp8	UTSW	8	70,984,173 (GRCm39)	critical splice acceptor site	probably null
R6655:Fkbp8	UTSW	8	70,985,320 (GRCm39)	missense	probably damaging	1.00
R7081:Fkbp8	UTSW	8	70,983,644 (GRCm39)	missense	probably benign	0.05
R8454:Fkbp8	UTSW	8	70,984,413 (GRCm39)	splice site	probably null
R9612:Fkbp8	UTSW	8	70,984,324 (GRCm39)	missense	probably damaging	0.99
R9726:Fkbp8	UTSW	8	70,987,529 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGATGGGACTCTGGACCTG -3'
(R):5'- TAGAAGAACAGGGTCCCTCC -3'

Sequencing Primer
(F):5'- ACTCTGGACCTGCAGGACTC -3'
(R):5'- ACCCATAGGAGGCATCTCAG -3'

Posted On

2015-04-17