Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02322:Fkbpl'

288284

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fkbpl

Ensembl Gene

ENSMUSG00000033739

Gene Name

FK506 binding protein-like

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.926) question?

Stock #

IGL02322

Quality Score

Status

Chromosome

Chromosomal Location

34644764-34646324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34645324 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 22 (E22G)

Ref Sequence

ENSEMBL: ENSMUSP00000037273 (fasta)

Gene Model

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

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: E22G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
AA Change: E22G

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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	G	A	8: 105,698,636	A355V	probably benign	Het
Adam9	A	G	8: 24,955,974	V801A	probably damaging	Het
Ankrd36	T	A	11: 5,614,619	V479D	possibly damaging	Het
Arid5a	C	T	1: 36,319,416	P423L	probably benign	Het
Atp13a4	T	C	16: 29,440,102	I650V	probably benign	Het
B4gat1	C	A	19: 5,039,127	P51T	possibly damaging	Het
Caskin2	G	A	11: 115,804,477	T310M	probably damaging	Het
Ccdc121	A	G	1: 181,510,434	S318P	possibly damaging	Het
Ccdc159	G	T	9: 21,929,373	V79L	possibly damaging	Het
Ccser2	A	T	14: 36,909,129	V18E	probably damaging	Het
Cct8l1	T	C	5: 25,517,583	V432A	probably benign	Het
Cdh11	A	T	8: 102,647,519	F529Y	probably benign	Het
Cep250	A	G	2: 155,990,328	E1370G	probably damaging	Het
Col22a1	C	A	15: 71,822,653	G717C	unknown	Het
Csmd2	T	C	4: 128,463,727		probably benign	Het
Ctrb1	A	C	8: 111,689,319		probably null	Het
Cyp2b19	T	C	7: 26,762,378	S208P	possibly damaging	Het
Dnmt3l	T	A	10: 78,052,738	I158N	possibly damaging	Het
Evi5l	T	C	8: 4,187,236		probably benign	Het
Flnb	T	A	14: 7,894,676	F825I	probably damaging	Het
Gjb6	A	T	14: 57,124,275	N176K	probably damaging	Het
Gpc2	G	T	5: 138,276,237		probably null	Het
H1fnt	T	C	15: 98,256,876	T131A	possibly damaging	Het
Il20	C	T	1: 130,909,576	C104Y	probably damaging	Het
Mgat5	A	G	1: 127,382,985	N212S	probably benign	Het
Olfm5	C	T	7: 104,154,401	G210D	probably damaging	Het
Olfr1226	T	A	2: 89,193,462	T191S	probably damaging	Het
Olfr1387	A	G	11: 49,459,957	S93G	probably benign	Het
Olig2	T	C	16: 91,226,658	S87P	probably benign	Het
Osbpl7	G	T	11: 97,056,124	A418S	probably benign	Het
Otog	G	T	7: 46,301,457	R2551L	probably benign	Het
Oxt	A	T	2: 130,576,280	N24I	probably damaging	Het
Pibf1	A	G	14: 99,210,983	Y626C	probably damaging	Het
Plekhh2	A	T	17: 84,589,466	K934*	probably null	Het
Pramef17	G	A	4: 143,992,021		probably benign	Het
Prdm9	A	T	17: 15,562,848	N57K	probably damaging	Het
Rapsn	A	G	2: 91,041,906	D195G	possibly damaging	Het
Rimbp3	T	G	16: 17,211,615	F968V	probably benign	Het
Rpgrip1	A	G	14: 52,150,042	N1047S	possibly damaging	Het
Slc35g1	C	T	19: 38,400,565	R107*	probably null	Het
Ssh2	A	C	11: 77,416,413		probably null	Het
Tiparp	C	A	3: 65,532,020	C70*	probably null	Het
Vmn2r110	A	G	17: 20,573,935	I824T	probably damaging	Het
Vmn2r78	T	C	7: 86,921,479	S402P	probably damaging	Het
Vps13c	A	G	9: 67,937,901	E2089G	probably benign	Het
Xirp2	A	T	2: 67,508,738	H441L	probably benign	Het
Zdhhc3	C	T	9: 123,100,477	G31D	probably benign	Het
Zfp330	A	G	8: 82,770,821	L64S	probably damaging	Het

Other mutations in Fkbpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Fkbpl	APN	17	34645744	missense	probably damaging	1.00
IGL02129:Fkbpl	APN	17	34645978	missense	probably damaging	0.99
IGL03331:Fkbpl	APN	17	34645687	missense	probably damaging	1.00
IGL03347:Fkbpl	APN	17	34646313	unclassified	probably benign
R0278:Fkbpl	UTSW	17	34645410	nonsense	probably null
R0314:Fkbpl	UTSW	17	34646052	missense	possibly damaging	0.62
R0540:Fkbpl	UTSW	17	34645359	missense	probably benign
R0607:Fkbpl	UTSW	17	34645359	missense	probably benign
R1866:Fkbpl	UTSW	17	34645823	missense	possibly damaging	0.50
R4483:Fkbpl	UTSW	17	34646295	missense	probably damaging	1.00
R4746:Fkbpl	UTSW	17	34645329	missense	probably benign
R4795:Fkbpl	UTSW	17	34645329	missense	probably benign
R4796:Fkbpl	UTSW	17	34645329	missense	probably benign
R4839:Fkbpl	UTSW	17	34645865	missense	probably benign
R5268:Fkbpl	UTSW	17	34645329	missense	probably benign
R5290:Fkbpl	UTSW	17	34645329	missense	probably benign
R5357:Fkbpl	UTSW	17	34645329	missense	probably benign
R5358:Fkbpl	UTSW	17	34645329	missense	probably benign
R5359:Fkbpl	UTSW	17	34645329	missense	probably benign
R5360:Fkbpl	UTSW	17	34645329	missense	probably benign
R5361:Fkbpl	UTSW	17	34645329	missense	probably benign
R5363:Fkbpl	UTSW	17	34645329	missense	probably benign
R5406:Fkbpl	UTSW	17	34645329	missense	probably benign
R5435:Fkbpl	UTSW	17	34645329	missense	probably benign
R5533:Fkbpl	UTSW	17	34645329	missense	probably benign
R5535:Fkbpl	UTSW	17	34645329	missense	probably benign
R5722:Fkbpl	UTSW	17	34645329	missense	probably benign
R5723:Fkbpl	UTSW	17	34645329	missense	probably benign
R5760:Fkbpl	UTSW	17	34645329	missense	probably benign
R5861:Fkbpl	UTSW	17	34645329	missense	probably benign
R5941:Fkbpl	UTSW	17	34645329	missense	probably benign
R6109:Fkbpl	UTSW	17	34645329	missense	probably benign
R6124:Fkbpl	UTSW	17	34645329	missense	probably benign
R6146:Fkbpl	UTSW	17	34645329	missense	probably benign
R6148:Fkbpl	UTSW	17	34645329	missense	probably benign
R6185:Fkbpl	UTSW	17	34645329	missense	probably benign
R6186:Fkbpl	UTSW	17	34645329	missense	probably benign
R6186:Fkbpl	UTSW	17	34646179	missense	probably benign	0.12
R6344:Fkbpl	UTSW	17	34645570	missense	probably damaging	1.00
R6481:Fkbpl	UTSW	17	34645414	missense	possibly damaging	0.95
R6564:Fkbpl	UTSW	17	34646266	missense	probably benign	0.42

Posted On

2015-04-16