Mutagenetix > Incidental Mutation

Incidental Mutation 'R6146:Fkbpl'

488916

Institutional Source

Beutler Lab

Gene Symbol

Fkbpl

Ensembl Gene

ENSMUSG00000033739

Gene Name

FK506 binding protein-like

Synonyms

WAF-1/CIP1 stabilizing protein 39, Ppiase-X, NG7, DIR1, WISp39

MMRRC Submission

044293-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R6146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34863738-34865298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34864303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 24 (A24T)

Ref Sequence

ENSEMBL: ENSMUSP00000037273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000036720] [ENSMUST00000173984] [ENSMUST00000174519] [ENSMUST00000174614] [ENSMUST00000174796]

AlphaFold

O35450

Predicted Effect

probably benign
Transcript: ENSMUST00000015605

SMART Domains

Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461

Domain	Start	End	E-Value	Type
low complexity region	86	110	N/A	INTRINSIC
internal_repeat_1	113	156	2.55e-13	PROSPERO
low complexity region	162	180	N/A	INTRINSIC
internal_repeat_1	186	230	2.55e-13	PROSPERO
low complexity region	238	255	N/A	INTRINSIC
low complexity region	289	301	N/A	INTRINSIC
BRLZ	320	384	7.08e-15	SMART
low complexity region	415	428	N/A	INTRINSIC
low complexity region	484	497	N/A	INTRINSIC
low complexity region	544	557	N/A	INTRINSIC
low complexity region	667	693	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036720
AA Change: A24T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
AA Change: A24T

Domain	Start	End	E-Value	Type
TPR	208	241	2.92e1	SMART
TPR	250	283	4.77e-2	SMART
TPR	284	317	1.89e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173984

SMART Domains

Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461

Domain	Start	End	E-Value	Type
low complexity region	89	113	N/A	INTRINSIC
internal_repeat_1	116	159	2.54e-13	PROSPERO
low complexity region	165	183	N/A	INTRINSIC
internal_repeat_1	189	233	2.54e-13	PROSPERO
low complexity region	241	258	N/A	INTRINSIC
low complexity region	292	304	N/A	INTRINSIC
BRLZ	323	387	2.9e-17	SMART
low complexity region	418	431	N/A	INTRINSIC
low complexity region	487	500	N/A	INTRINSIC
low complexity region	547	560	N/A	INTRINSIC
low complexity region	670	696	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174519

SMART Domains

Protein: ENSMUSP00000133558
Gene: ENSMUSG00000015461

Domain	Start	End	E-Value	Type
low complexity region	23	47	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174600

Predicted Effect

probably benign
Transcript: ENSMUST00000174614

Predicted Effect

probably benign
Transcript: ENSMUST00000174796

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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 has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality. Heterozygotes develop normally but exhibit enhanced angiogenesis in various experimental and tumor disease models. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,946,587 (GRCm39)	E29G	probably benign	Het
Abi3bp	T	C	16: 56,491,628 (GRCm39)	S552P	probably damaging	Het
Adgrg7	A	G	16: 56,593,829 (GRCm39)	I129T	probably benign	Het
Adhfe1	A	G	1: 9,623,943 (GRCm39)	N148S	probably damaging	Het
AI182371	A	G	2: 34,987,983 (GRCm39)	Y77H	probably damaging	Het
Aldh5a1	C	T	13: 25,103,661 (GRCm39)		probably null	Het
Ankrd2	A	G	19: 42,028,544 (GRCm39)	T67A	possibly damaging	Het
Anln	A	T	9: 22,287,604 (GRCm39)	C232*	probably null	Het
Cchcr1	A	G	17: 35,839,475 (GRCm39)	D587G	possibly damaging	Het
Cgn	G	T	3: 94,674,435 (GRCm39)	Q901K	possibly damaging	Het
Cip2a	A	T	16: 48,814,692 (GRCm39)	K18*	probably null	Het
Cluh	G	T	11: 74,558,054 (GRCm39)		probably null	Het
Crebbp	G	A	16: 3,902,487 (GRCm39)	Q2213*	probably null	Het
Cyp2d22	T	A	15: 82,258,036 (GRCm39)		probably null	Het
Dcdc2a	T	C	13: 25,389,440 (GRCm39)	V456A	probably benign	Het
Depdc5	A	G	5: 33,126,075 (GRCm39)	E569G	probably benign	Het
Dnah5	T	C	15: 28,459,331 (GRCm39)	F4517L	probably benign	Het
Doc2b	T	C	11: 75,664,421 (GRCm39)	K317E	probably damaging	Het
Dysf	T	A	6: 84,180,181 (GRCm39)	D1951E	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
F2rl2	A	C	13: 95,837,149 (GRCm39)	I65L	probably benign	Het
Fbxw17	A	G	13: 50,586,548 (GRCm39)	K417E	probably benign	Het
Fxr2	A	G	11: 69,532,165 (GRCm39)	M96V	possibly damaging	Het
Kcnj10	C	A	1: 172,196,892 (GRCm39)	Y135*	probably null	Het
Kidins220	G	A	12: 25,102,812 (GRCm39)	R1238Q	probably damaging	Het
Krt31	T	C	11: 99,939,056 (GRCm39)	N255S	probably benign	Het
Lrp2	T	C	2: 69,341,345 (GRCm39)	D945G	probably benign	Het
Lrrc66	T	C	5: 73,765,432 (GRCm39)	D537G	probably benign	Het
Ltbp4	T	A	7: 27,019,149 (GRCm39)	I992F	probably damaging	Het
Lzts1	A	G	8: 69,593,524 (GRCm39)	S28P	probably benign	Het
Mrc2	C	A	11: 105,216,470 (GRCm39)	N86K	probably damaging	Het
Mroh6	C	A	15: 75,758,486 (GRCm39)	A302S	possibly damaging	Het
Muc16	T	A	9: 18,409,093 (GRCm39)	N198Y	probably damaging	Het
Myo9a	T	C	9: 59,778,512 (GRCm39)	S1423P	probably benign	Het
Or10ag58	A	T	2: 87,265,662 (GRCm39)	D277V	possibly damaging	Het
Or2b28	A	T	13: 21,531,164 (GRCm39)	Y22F	possibly damaging	Het
Or5h22	A	G	16: 58,895,077 (GRCm39)	V122A	probably benign	Het
Or5p56	G	T	7: 107,589,620 (GRCm39)	G16V	probably damaging	Het
Or5w17	A	C	2: 87,583,602 (GRCm39)	L245R	probably damaging	Het
Or9g4	T	A	2: 85,504,938 (GRCm39)	K186*	probably null	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polg	T	C	7: 79,100,260 (GRCm39)	M1184V	probably benign	Het
Prl8a8	T	C	13: 27,694,463 (GRCm39)	Y108C	probably damaging	Het
Proser1	T	A	3: 53,385,540 (GRCm39)	I474N	probably damaging	Het
Rab44	A	G	17: 29,354,391 (GRCm39)		probably benign	Het
Rbp1	C	A	9: 98,307,669 (GRCm39)	D79E	possibly damaging	Het
Rnf213	T	C	11: 119,326,825 (GRCm39)	V1605A	probably benign	Het
Rps24	A	T	14: 24,540,803 (GRCm39)		probably null	Het
Setd5	T	C	6: 113,098,773 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,333,359 (GRCm39)	E1536G	probably damaging	Het
Slc38a3	T	C	9: 107,532,228 (GRCm39)	I435V	probably benign	Het
Slco1a5	T	A	6: 142,180,534 (GRCm39)	M623L	probably benign	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Spn	A	G	7: 126,735,479 (GRCm39)	S343P	possibly damaging	Het
Sptan1	A	G	2: 29,894,535 (GRCm39)	T1168A	probably benign	Het
Sptbn4	A	T	7: 27,064,012 (GRCm39)	L2138*	probably null	Het
Tg	T	A	15: 66,545,216 (GRCm39)		probably null	Het
Tigd5	T	A	15: 75,782,094 (GRCm39)	L152Q	probably damaging	Het
Tmem163	C	T	1: 127,447,126 (GRCm39)	V170I	probably benign	Het
Tpr	T	C	1: 150,298,913 (GRCm39)	C1068R	possibly damaging	Het
Ubr1	A	T	2: 120,723,690 (GRCm39)	Y1290N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,817 (GRCm39)	F188I	probably benign	Het
Vmn2r100	G	A	17: 19,742,522 (GRCm39)	V299I	probably benign	Het
Vmn2r91	T	G	17: 18,356,518 (GRCm39)	H728Q	probably benign	Het
Vta1	T	C	10: 14,581,096 (GRCm39)	Y37C	probably damaging	Het
Wbp2	C	A	11: 115,974,728 (GRCm39)	M35I	probably benign	Het
Zcchc9	G	A	13: 91,953,986 (GRCm39)	Q90*	probably null	Het

Other mutations in Fkbpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Fkbpl	APN	17	34,864,718 (GRCm39)	missense	probably damaging	1.00
IGL02129:Fkbpl	APN	17	34,864,952 (GRCm39)	missense	probably damaging	0.99
IGL02322:Fkbpl	APN	17	34,864,298 (GRCm39)	missense	probably benign	0.00
IGL03331:Fkbpl	APN	17	34,864,661 (GRCm39)	missense	probably damaging	1.00
IGL03347:Fkbpl	APN	17	34,865,287 (GRCm39)	unclassified	probably benign
R0278:Fkbpl	UTSW	17	34,864,384 (GRCm39)	nonsense	probably null
R0314:Fkbpl	UTSW	17	34,865,026 (GRCm39)	missense	possibly damaging	0.62
R0540:Fkbpl	UTSW	17	34,864,333 (GRCm39)	missense	probably benign
R0607:Fkbpl	UTSW	17	34,864,333 (GRCm39)	missense	probably benign
R1866:Fkbpl	UTSW	17	34,864,797 (GRCm39)	missense	possibly damaging	0.50
R4483:Fkbpl	UTSW	17	34,865,269 (GRCm39)	missense	probably damaging	1.00
R4746:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R4795:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R4796:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R4839:Fkbpl	UTSW	17	34,864,839 (GRCm39)	missense	probably benign
R5268:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5290:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5357:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5358:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5359:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5360:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5361:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5363:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5406:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5435:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5533:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5535:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5722:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5723:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5760:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5861:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R5941:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R6109:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R6124:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R6148:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R6185:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R6186:Fkbpl	UTSW	17	34,865,153 (GRCm39)	missense	probably benign	0.12
R6186:Fkbpl	UTSW	17	34,864,303 (GRCm39)	missense	probably benign
R6344:Fkbpl	UTSW	17	34,864,544 (GRCm39)	missense	probably damaging	1.00
R6481:Fkbpl	UTSW	17	34,864,388 (GRCm39)	missense	possibly damaging	0.95
R6564:Fkbpl	UTSW	17	34,865,240 (GRCm39)	missense	probably benign	0.42
R9800:Fkbpl	UTSW	17	34,864,691 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGAGGAGTCTTAACTAGGAATTCTGG -3'
(R):5'- AGGTGCTCTGCCATCTCATTG -3'

Sequencing Primer
(F):5'- AATTCTGGAATTTACATGGTTTCGG -3'
(R):5'- TGGTTGAGACTTGAAATTGATCAGAG -3'

Posted On

2017-10-10