Mutagenetix > Incidental Mutation

Incidental Mutation 'R3957:Fkbp8'

310764

Institutional Source

Beutler Lab

Gene Symbol

Fkbp8

Ensembl Gene

ENSMUSG00000019428

Gene Name

FK506 binding protein 8

Synonyms

Fkbp38, 38kDa

MMRRC Submission

040931-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3957 (G1)

Quality Score

225

Status

Not 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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.5%

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 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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Acsm4	A	T	7: 119,302,588 (GRCm39)	M238L	possibly damaging	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Atp13a5	T	A	16: 29,117,012 (GRCm39)	I579L	probably benign	Het
Canx	A	G	11: 50,199,210 (GRCm39)	V153A	probably damaging	Het
Cdan1	A	G	2: 120,556,113 (GRCm39)	Y718H	probably damaging	Het
Cdan1	G	A	2: 120,561,501 (GRCm39)		probably benign	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Dach1	T	C	14: 98,077,545 (GRCm39)	T561A	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dhx29	C	T	13: 113,067,455 (GRCm39)	A112V	probably benign	Het
Fanca	G	A	8: 124,043,102 (GRCm39)	R95C	probably benign	Het
Fat4	C	A	3: 39,036,495 (GRCm39)	N3382K	probably benign	Het
Fkbp15	A	C	4: 62,252,489 (GRCm39)	F290L	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,300 (GRCm39)	Q97L	probably damaging	Het
Igkv15-103	A	T	6: 68,414,903 (GRCm39)	Y114F	probably benign	Het
Kera	G	A	10: 97,448,707 (GRCm39)	R309H	probably benign	Het
Kif1a	T	A	1: 92,953,416 (GRCm39)	H1256L	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lmx1b	T	C	2: 33,459,106 (GRCm39)	E149G	probably damaging	Het
Me2	A	G	18: 73,914,203 (GRCm39)	F443L	probably damaging	Het
Med12l	T	A	3: 58,980,589 (GRCm39)	S307R	probably damaging	Het
Mettl25b	T	C	3: 87,834,135 (GRCm39)	K116R	possibly damaging	Het
Mocs2	T	A	13: 114,961,803 (GRCm39)		probably null	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably 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
Or5d43	A	G	2: 88,105,348 (GRCm39)	F15S	probably damaging	Het
Ovch2	G	A	7: 107,388,318 (GRCm39)	L421F	probably damaging	Het
Pan2	C	T	10: 128,151,046 (GRCm39)	R806C	probably damaging	Het
Plod3	A	T	5: 137,023,046 (GRCm39)	H616L	probably damaging	Het
Plxnb3	T	C	X: 72,814,826 (GRCm39)	V1789A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tdrkh	A	G	3: 94,335,556 (GRCm39)	N383S	probably damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Trub1	G	A	19: 57,473,798 (GRCm39)	A239T	possibly 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
Unc13b	A	G	4: 43,256,834 (GRCm39)	Y3962C	probably damaging	Het
Usp3	T	C	9: 66,469,873 (GRCm39)	T83A	probably benign	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Zmym6	T	C	4: 127,017,089 (GRCm39)	S957P	possibly damaging	Het
Zmynd8	T	C	2: 165,654,395 (GRCm39)	T722A	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
R3953:Fkbp8	UTSW	8	70,987,517 (GRCm39)	missense	probably damaging	0.97
R3956: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'- GAAAGATGCTAGGCAACCCC -3'
(R):5'- ACCCATAGGAGGCATCTCAG -3'

Sequencing Primer
(F):5'- AAGATGGGACTCTGGACCTGC -3'
(R):5'- ATCTCAGCCAGGGAGGG -3'

Posted On

2015-04-29