Mutagenetix > Incidental Mutation

Incidental Mutation 'R5861:Fkbpl'

453946

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

044073-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R5861 (G1)

Quality Score

225

Status

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: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

98% (81/83)

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
Abcc5	G	T	16: 20,218,644 (GRCm39)	T246N	probably damaging	Het
Aopep	A	G	13: 63,446,626 (GRCm39)	D143G	probably damaging	Het
Arhgap10	C	T	8: 78,037,393 (GRCm39)	A612T	probably damaging	Het
Arsg	T	A	11: 109,454,014 (GRCm39)	F407I	probably damaging	Het
Asxl1	C	A	2: 153,241,310 (GRCm39)	A620D	probably damaging	Het
C2cd3	A	G	7: 100,093,682 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,267,359 (GRCm39)	V92I	probably damaging	Het
Cog2	T	C	8: 125,264,617 (GRCm39)	F332S	probably damaging	Het
Crhbp	G	A	13: 95,580,333 (GRCm39)	A82V	probably damaging	Het
Cyp2j6	A	G	4: 96,434,040 (GRCm39)	V90A	possibly damaging	Het
Dennd4c	A	T	4: 86,709,589 (GRCm39)	M397L	probably benign	Het
Dnajb8	A	G	6: 88,200,088 (GRCm39)	D208G	possibly damaging	Het
Ecm1	G	C	3: 95,643,909 (GRCm39)	L230V	probably damaging	Het
Ercc2	G	C	7: 19,128,066 (GRCm39)	A696P	possibly damaging	Het
Gm13035	A	G	4: 146,009,859 (GRCm39)		noncoding transcript	Het
Gm28042	T	C	2: 119,865,116 (GRCm39)	V247A	probably damaging	Het
Gm28455	T	A	7: 39,148,003 (GRCm39)		noncoding transcript	Het
Gpr150	A	T	13: 76,204,192 (GRCm39)	V251D	possibly damaging	Het
Grip1	C	T	10: 119,765,875 (GRCm39)	S69L	probably damaging	Het
Hs6st3	A	G	14: 119,376,265 (GRCm39)	I147V	possibly damaging	Het
Il5	G	A	11: 53,614,743 (GRCm39)	E102K	probably benign	Het
Kif1c	T	C	11: 70,594,621 (GRCm39)	F94L	probably damaging	Het
Lrrc63	T	C	14: 75,344,806 (GRCm39)	E427G	possibly damaging	Het
Man1b1	A	G	2: 25,238,066 (GRCm39)	T384A	probably benign	Het
Mapk15	C	A	15: 75,868,208 (GRCm39)		probably benign	Het
Mfsd10	T	C	5: 34,791,588 (GRCm39)		probably benign	Het
Mgat5	C	A	1: 127,315,129 (GRCm39)	A285E	probably damaging	Het
Mroh4	T	A	15: 74,478,456 (GRCm39)		probably benign	Het
Myf5	A	T	10: 107,320,069 (GRCm39)	C194S	probably benign	Het
Myh7	A	G	14: 55,226,347 (GRCm39)	V431A	possibly damaging	Het
Nadsyn1	A	C	7: 143,364,964 (GRCm39)	M247R	possibly damaging	Het
Nipsnap3b	A	G	4: 53,021,177 (GRCm39)	D166G	probably damaging	Het
Nqo2	A	T	13: 34,156,413 (GRCm39)	L42F	probably damaging	Het
Nt5dc3	A	T	10: 86,651,738 (GRCm39)	D180V	probably damaging	Het
Numa1	C	A	7: 101,658,494 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,052 (GRCm39)	L328Q	probably damaging	Het
Or4e1	T	C	14: 52,700,953 (GRCm39)	Y171C	probably damaging	Het
Or5w17	A	T	2: 87,583,922 (GRCm39)	N138K	probably benign	Het
Or7a37	A	T	10: 78,805,765 (GRCm39)	Y94F	probably damaging	Het
Papolb	T	C	5: 142,514,992 (GRCm39)	N217S	possibly damaging	Het
Pcmtd2	C	A	2: 181,484,268 (GRCm39)	T26K	probably damaging	Het
Pld5	T	G	1: 175,917,571 (GRCm39)	N59H	probably damaging	Het
Ppm1d	T	C	11: 85,202,674 (GRCm39)	S126P	possibly damaging	Het
Ppp1r21	T	C	17: 88,889,937 (GRCm39)	L727P	probably damaging	Het
Pramel20	G	T	4: 143,297,810 (GRCm39)	V77L	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Rara	T	A	11: 98,858,987 (GRCm39)	C148*	probably null	Het
Rexo2	A	T	9: 48,386,481 (GRCm39)	I83N	probably damaging	Het
Rnf213	A	G	11: 119,364,203 (GRCm39)	R4501G	probably damaging	Het
Rps5	T	A	7: 12,659,501 (GRCm39)	F97L	probably damaging	Het
Sigirr	G	A	7: 140,671,292 (GRCm39)	R397W	probably damaging	Het
Slc6a6	T	C	6: 91,718,014 (GRCm39)	Y318H	probably damaging	Het
Spam1	A	G	6: 24,796,570 (GRCm39)	T174A	probably benign	Het
Stam2	G	T	2: 52,632,116 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,868,337 (GRCm39)	E348G	probably benign	Het
Taf11	T	C	17: 28,120,644 (GRCm39)	T209A	probably benign	Het
Tenm4	A	G	7: 96,492,424 (GRCm39)		probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Uevld	A	T	7: 46,576,104 (GRCm39)	S461T	probably benign	Het
Vmn2r6	T	A	3: 64,463,454 (GRCm39)	N460I	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zfp316	T	C	5: 143,249,095 (GRCm39)	Y180C	unknown	Het
Zfp941	A	G	7: 140,392,052 (GRCm39)	S436P	probably damaging	Het
Zfp979	G	A	4: 147,697,966 (GRCm39)	Q248*	probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	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
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
R6146: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'- AGCACTACGAGGAGTCTTAACTAGG -3'
(R):5'- GTGCTCTGCCATCTCATTGG -3'

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

Posted On

2017-02-10