Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:Fkbp8'

172798

Institutional Source

Beutler Lab

Gene Symbol

Fkbp8

Ensembl Gene

ENSMUSG00000019428

Gene Name

FK506 binding protein 8

Synonyms

Fkbp38, 38kDa

MMRRC Submission

039668-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1631 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

70980374-70987978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70984282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 210 (L210Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112527 (fasta)

Gene Model

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

AlphaFold

O35465

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075491
AA Change: L211Q

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428
AA Change: L211Q

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: L210Q

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

SMART Domains

Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428
AA Change: L210Q

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

possibly damaging
Transcript: ENSMUST00000119698
AA Change: L211Q

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428
AA Change: L211Q

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: ENSMUST00000128513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126613

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134893

Predicted Effect

probably benign
Transcript: ENSMUST00000132867

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,756,316 (GRCm39)	S320T	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Als2	T	C	1: 59,257,226 (GRCm39)	E12G	probably benign	Het
Arhgef10	A	T	8: 14,997,157 (GRCm39)	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,906,395 (GRCm39)		probably null	Het
Avil	A	G	10: 126,846,494 (GRCm39)		probably null	Het
C2cd3	G	A	7: 100,021,704 (GRCm39)		probably null	Het
Cdhr18	C	T	14: 13,829,796 (GRCm38)	E649K	probably damaging	Het
Col18a1	G	A	10: 76,895,131 (GRCm39)	P1177S	probably damaging	Het
Copb2	T	A	9: 98,462,213 (GRCm39)	F428L	probably benign	Het
Cpa1	A	G	6: 30,640,923 (GRCm39)	E138G	probably damaging	Het
Ctsm	T	C	13: 61,686,249 (GRCm39)	I12V	possibly damaging	Het
Dctn1	A	G	6: 83,174,578 (GRCm39)	Q967R	possibly damaging	Het
Dok2	T	C	14: 71,014,393 (GRCm39)	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,554,592 (GRCm39)	M1I	probably null	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,868,505 (GRCm39)	D243E	probably damaging	Het
Gm5422	A	G	10: 31,125,802 (GRCm39)		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052 (GRCm39)	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,529,393 (GRCm39)	V79G	probably damaging	Het
Htr6	A	T	4: 138,788,804 (GRCm39)	V417E	probably benign	Het
Ifnar2	G	A	16: 91,188,755 (GRCm39)	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,443,102 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,081,788 (GRCm39)	F182L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama3	A	G	18: 12,540,551 (GRCm39)	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,034,680 (GRCm39)	V108L	possibly damaging	Het
Lrrc14b	A	G	13: 74,509,373 (GRCm39)		probably null	Het
Magi3	T	C	3: 103,958,493 (GRCm39)	T531A	probably benign	Het
Mapre2	A	G	18: 23,966,011 (GRCm39)	Y32C	probably damaging	Het
Med1	C	T	11: 98,046,452 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nt5el	C	A	13: 105,218,749 (GRCm39)	Q28K	probably benign	Het
Or10a3b	A	C	7: 108,445,064 (GRCm39)	L51R	probably damaging	Het
Or51h1	A	G	7: 102,308,408 (GRCm39)	I127V	probably damaging	Het
Or5h23	G	A	16: 58,906,408 (GRCm39)	T146I	probably benign	Het
Or7a35	A	T	10: 78,853,239 (GRCm39)	I28L	probably benign	Het
Pde1b	A	G	15: 103,430,099 (GRCm39)	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,593,121 (GRCm39)	D1664G	probably benign	Het
Plod3	C	T	5: 137,017,847 (GRCm39)	R208W	probably damaging	Het
Pstk	G	A	7: 130,986,271 (GRCm39)	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,411,684 (GRCm39)	V403A	probably damaging	Het
Rad21	C	A	15: 51,833,436 (GRCm39)	V348F	probably damaging	Het
Sacs	T	A	14: 61,448,181 (GRCm39)	L3409*	probably null	Het
Setd4	T	A	16: 93,390,136 (GRCm39)	K98*	probably null	Het
Skint5	A	G	4: 113,341,123 (GRCm39)	V1385A	probably benign	Het
Stam	C	A	2: 14,151,059 (GRCm39)	S472*	probably null	Het
Stx2	A	G	5: 129,069,289 (GRCm39)	F141L	probably damaging	Het
Tia1	A	G	6: 86,397,330 (GRCm39)	D101G	probably damaging	Het
Ttc21a	T	A	9: 119,783,228 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,410,651 (GRCm39)	N2700K	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
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
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'- ATTCAACCTGGCAAGGAGGGTGTG -3'
(R):5'- CCAAATGATGGTGCAGAAGTCTGGC -3'

Sequencing Primer
(F):5'- CAAGGAGGGTGTGGTGGTG -3'
(R):5'- agatggctcagcaggaaaac -3'

Posted On

2014-04-24