Mutagenetix > Incidental Mutation

Incidental Mutation 'R3951:Fkbp8'

307944

Institutional Source

Beutler Lab

Gene Symbol

Fkbp8

Ensembl Gene

ENSMUSG00000019428

Gene Name

FK506 binding protein 8

Synonyms

Fkbp38, 38kDa

MMRRC Submission

040828-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70980374-70987978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70985311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 275 (L275Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112527 (fasta)

Gene Model

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

AlphaFold

O35465

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075491
AA Change: L276Q

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428
AA Change: L276Q

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: L275Q

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

SMART Domains

Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428
AA Change: L275Q

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: L276Q

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428
AA Change: L276Q

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

noncoding transcript
Transcript: ENSMUST00000144766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128513

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132867

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (55/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,451,158 (GRCm39)		probably benign	Het
4932414N04Rik	T	C	2: 68,494,747 (GRCm39)		probably null	Het
Akr1c18	C	T	13: 4,185,284 (GRCm39)	V283I	probably benign	Het
Atp2b2	T	A	6: 113,737,792 (GRCm39)	M861L	possibly damaging	Het
Cdh23	T	C	10: 60,493,105 (GRCm39)	Y3C	probably benign	Het
Clspn	A	G	4: 126,470,172 (GRCm39)	E814G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,914 (GRCm39)	Q97R	probably benign	Het
Dera	A	G	6: 137,814,118 (GRCm39)	Y100C	probably damaging	Het
Ect2	A	T	3: 27,184,269 (GRCm39)	D517E	probably benign	Het
Epha4	A	T	1: 77,376,353 (GRCm39)	Y509N	probably damaging	Het
Fat2	T	C	11: 55,187,208 (GRCm39)	T1213A	probably benign	Het
Gabrb2	A	G	11: 42,517,708 (GRCm39)	Y510C	probably damaging	Het
Gda	T	C	19: 21,449,809 (GRCm39)	T16A	probably benign	Het
Ggcx	G	A	6: 72,403,541 (GRCm39)	G363R	probably benign	Het
Gm527	T	G	12: 64,970,276 (GRCm39)		probably benign	Het
Hoxb2	A	G	11: 96,244,001 (GRCm39)	E204G	probably damaging	Het
Hsd17b11	G	A	5: 104,140,803 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,249,249 (GRCm39)		probably benign	Het
Kif16b	C	T	2: 142,549,279 (GRCm39)	V1079I	probably benign	Het
Klhl29	T	A	12: 5,190,660 (GRCm39)	S112C	probably damaging	Het
Lpcat2	G	T	8: 93,591,531 (GRCm39)	M58I	probably benign	Het
Lrrc8d	G	T	5: 105,962,142 (GRCm39)	V851F	probably benign	Het
Ltbp3	T	C	19: 5,806,029 (GRCm39)	V929A	probably damaging	Het
Map3k20	T	G	2: 72,268,644 (GRCm39)	I550M	probably damaging	Het
Map3k9	T	C	12: 81,769,295 (GRCm39)	M941V	probably benign	Het
Myom2	A	T	8: 15,134,556 (GRCm39)	Y453F	probably benign	Het
Ncapd2	T	C	6: 125,163,747 (GRCm39)	K78E	probably damaging	Het
Ncor2	G	T	5: 125,109,320 (GRCm39)	D1496E	possibly damaging	Het
Ndnf	T	C	6: 65,680,125 (GRCm39)	Y135H	possibly damaging	Het
Ndst1	T	C	18: 60,830,211 (GRCm39)	N633S	probably benign	Het
Nmur2	G	C	11: 55,931,051 (GRCm39)	P220R	probably damaging	Het
Nsd1	G	C	13: 55,416,267 (GRCm39)	E1438Q	probably benign	Het
Or5al7	G	T	2: 85,992,962 (GRCm39)	C110*	probably null	Het
Or5w10	T	C	2: 87,375,409 (GRCm39)	T160A	probably damaging	Het
Or8g2	A	T	9: 39,822,021 (GRCm39)	R307S	probably benign	Het
Or9s23	T	A	1: 92,501,511 (GRCm39)	M206K	possibly damaging	Het
Pom121l2	T	G	13: 22,166,298 (GRCm39)	S190A	probably damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rtn4ip1	T	A	10: 43,785,893 (GRCm39)		probably null	Het
Scarb1	A	C	5: 125,364,475 (GRCm39)	C85G	probably damaging	Het
Sh2d4b	A	G	14: 40,594,503 (GRCm39)	I159T	probably damaging	Het
Skic3	T	G	13: 76,278,338 (GRCm39)	L551V	probably damaging	Het
Sntg1	C	T	1: 8,853,125 (GRCm39)		probably benign	Het
Sos1	G	A	17: 80,731,610 (GRCm39)	T630I	probably damaging	Het
Spata7	T	A	12: 98,635,732 (GRCm39)	D517E	probably damaging	Het
Tcaf1	T	C	6: 42,655,993 (GRCm39)	T328A	probably benign	Het
Ticrr	T	C	7: 79,331,817 (GRCm39)	L776S	probably damaging	Het
Trpc2	T	A	7: 101,742,781 (GRCm39)	M597K	probably damaging	Het
Tubb3	C	A	8: 124,148,003 (GRCm39)	T312N	probably damaging	Het
Ubr4	G	A	4: 139,120,405 (GRCm39)	V277M	probably damaging	Het
Uhrf2	G	A	19: 30,057,261 (GRCm39)	R473Q	probably damaging	Het
Vmn2r43	T	A	7: 8,258,319 (GRCm39)	H298L	probably benign	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
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'- AAGGACTTGGGTGGCCTCTTAG -3'
(R):5'- AATGGCTTAGGACTCCCAAGG -3'

Sequencing Primer
(F):5'- GGTGGCCTCTTAGGGGTC -3'
(R):5'- GATATGACAAAGCCAGTTTTCCCTC -3'

Posted On

2015-04-17