Mutagenetix > Incidental Mutations

Incidental Mutation 'R0738:Fkbp8'

70579

Institutional Source

Beutler Lab

Gene Symbol

Fkbp8

Ensembl Gene

ENSMUSG00000019428

Gene Name

FK506 binding protein 8

Synonyms

38kDa, Fkbp38

MMRRC Submission

038919-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70527724-70535328 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70529670 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 86 (I86N)

Ref Sequence

ENSEMBL: ENSMUSP00000114069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075491] [ENSMUST00000117580] [ENSMUST00000119353] [ENSMUST00000119425] [ENSMUST00000119698] [ENSMUST00000132867] [ENSMUST00000134893] [ENSMUST00000138260]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075491
AA Change: I86N

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

SMART Domains

Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428
AA Change: I86N

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: ENSMUST00000117580

SMART Domains

Protein: ENSMUSP00000112561
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
Pfam:KxDL	12	99	5.1e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119353
AA Change: I86N

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

SMART Domains

Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428
AA Change: I86N

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 benign
Transcript: ENSMUST00000119425

SMART Domains

Protein: ENSMUSP00000113528
Gene: ENSMUSG00000019428

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119698
AA Change: I86N

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

SMART Domains

Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428
AA Change: I86N

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: ENSMUST00000128513

Predicted Effect

probably benign
Transcript: ENSMUST00000132867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144766

Predicted Effect

probably benign
Transcript: ENSMUST00000134893

Predicted Effect

probably benign
Transcript: ENSMUST00000138260

SMART Domains

Protein: ENSMUSP00000123438
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
Pfam:KxDL	12	99	9.2e-40	PFAM
UBQ	105	176	2.14e-36	SMART

Meta Mutation Damage Score

0.2794

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.6%
20x: 92.3%

Validation Efficiency

98% (46/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,240,953	M189K	probably benign	Het
Ank1	A	T	8: 23,114,114	E964D	probably damaging	Het
Ankhd1	A	G	18: 36,645,249		probably benign	Het
Cd9	G	T	6: 125,462,140	Q169K	probably benign	Het
Cdc42bpa	T	A	1: 179,999,462		probably benign	Het
Ch25h	T	C	19: 34,474,387	N247S	possibly damaging	Het
Dctn1	T	C	6: 83,190,107		probably null	Het
Defa22	C	T	8: 21,162,375	T19I	probably benign	Het
Dscam	T	C	16: 96,819,781	N576D	possibly damaging	Het
Epha3	T	C	16: 63,595,612	M675V	probably damaging	Het
Fam241a	C	A	3: 127,870,793	A120S	possibly damaging	Het
Herc4	C	T	10: 63,289,149	P514L	possibly damaging	Het
Ide	A	T	19: 37,277,965	L813*	probably null	Het
Igkv12-41	G	A	6: 69,858,691	Q26*	probably null	Het
Itsn2	T	C	12: 4,635,681	V483A	probably benign	Het
Kcp	A	T	6: 29,490,439	I1002N	probably benign	Het
Lrfn5	G	T	12: 61,840,592	E389*	probably null	Het
Lrp6	G	T	6: 134,542,045	A19E	probably benign	Het
Mad1l1	A	G	5: 140,300,560	L228P	probably damaging	Het
Map2	T	C	1: 66,425,189		probably benign	Het
Med13l	T	A	5: 118,751,633	Y1820N	probably damaging	Het
Mgam	A	G	6: 40,754,935	N735S	probably benign	Het
Mid2	A	G	X: 140,763,676	Y618C	probably damaging	Het
Mllt11	G	A	3: 95,220,286	Q58*	probably null	Het
Mttp	A	G	3: 138,103,313	V678A	probably damaging	Het
Nfatc1	A	G	18: 80,697,910	S278P	probably damaging	Het
Ninj2	A	G	6: 120,198,137		probably benign	Het
Nsd3	T	A	8: 25,678,709		probably null	Het
Olfr1454	A	T	19: 13,063,738	E109V	probably damaging	Het
Olfr895	T	C	9: 38,269,125	V204A	possibly damaging	Het
Pcdhb4	A	G	18: 37,308,711	N358S	probably damaging	Het
Plch1	T	C	3: 63,702,553		probably benign	Het
Popdc3	T	C	10: 45,315,258	L155P	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm26	A	T	14: 105,176,782	I24N	unknown	Het
Rc3h2	T	A	2: 37,405,374	D210V	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 83,998,996		probably benign	Het
Spopl	T	C	2: 23,537,521	T200A	probably benign	Het
Tarbp1	A	G	8: 126,438,801		probably null	Het
Thnsl1	T	A	2: 21,213,362	H121Q	probably damaging	Het
Tll1	T	C	8: 64,101,950	D233G	probably damaging	Het
Vmn2r27	A	T	6: 124,223,702	V432E	possibly damaging	Het
Wdr5	T	C	2: 27,519,412	S49P	probably damaging	Het
Zfyve26	A	T	12: 79,295,534	I46N	probably damaging	Het

Other mutations in Fkbp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Fkbp8	APN	8	70534561	missense	probably damaging	1.00
IGL01832:Fkbp8	APN	8	70531545	missense	probably benign	0.24
R1631:Fkbp8	UTSW	8	70531632	missense	probably damaging	1.00
R1845:Fkbp8	UTSW	8	70531035	splice site	probably null
R3951:Fkbp8	UTSW	8	70532661	missense	probably damaging	1.00
R3953:Fkbp8	UTSW	8	70534867	missense	probably damaging	0.97
R3956:Fkbp8	UTSW	8	70534867	missense	probably damaging	0.97
R3957:Fkbp8	UTSW	8	70534867	missense	probably damaging	0.97
R4965:Fkbp8	UTSW	8	70531523	critical splice acceptor site	probably null
R6655:Fkbp8	UTSW	8	70532670	missense	probably damaging	1.00
R7081:Fkbp8	UTSW	8	70530994	missense	probably benign	0.05
R8454:Fkbp8	UTSW	8	70531763	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGGTTATCACTGTCACACTTGCC -3'
(R):5'- TCTCTGAGCTGCTGTTACCAGCAC -3'

Sequencing Primer
(F):5'- AGTTCCTGATCCCAGCAGC -3'
(R):5'- gcagacccagcttggac -3'

Posted On

2013-09-30