Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02310:Fkbp15'

287785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fkbp15

Ensembl Gene

ENSMUSG00000066151

Gene Name

FK506 binding protein 15

Synonyms

C430014M02Rik, FKBP133

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02310

Quality Score

Status

Chromosome

Chromosomal Location

62218579-62278785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62258553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 138 (Y138C)

Ref Sequence

ENSEMBL: ENSMUSP00000103085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084527] [ENSMUST00000084528] [ENSMUST00000098033] [ENSMUST00000107461]

AlphaFold

Q6P9Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000084527
AA Change: Y138C

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

SMART Domains

Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: Y138C

Domain	Start	End	E-Value	Type
low complexity region	59	68	N/A	INTRINSIC
Pfam:FKBP_C	190	286	4.8e-21	PFAM
low complexity region	302	322	N/A	INTRINSIC
low complexity region	326	338	N/A	INTRINSIC
internal_repeat_1	403	431	1.88e-10	PROSPERO
internal_repeat_1	472	500	1.88e-10	PROSPERO
coiled coil region	560	662	N/A	INTRINSIC
coiled coil region	684	790	N/A	INTRINSIC
coiled coil region	816	865	N/A	INTRINSIC
coiled coil region	916	943	N/A	INTRINSIC
low complexity region	952	964	N/A	INTRINSIC
low complexity region	983	994	N/A	INTRINSIC
low complexity region	1034	1045	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000084528
AA Change: Y138C

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

SMART Domains

Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: Y138C

Domain	Start	End	E-Value	Type
low complexity region	59	68	N/A	INTRINSIC
Pfam:FKBP_C	190	286	2.4e-21	PFAM
low complexity region	302	322	N/A	INTRINSIC
low complexity region	326	338	N/A	INTRINSIC
internal_repeat_1	403	431	2.74e-10	PROSPERO
internal_repeat_1	472	500	2.74e-10	PROSPERO
coiled coil region	560	662	N/A	INTRINSIC
coiled coil region	684	745	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098033
AA Change: Y138C

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

SMART Domains

Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: Y138C

Domain	Start	End	E-Value	Type
low complexity region	59	68	N/A	INTRINSIC
Pfam:FKBP_C	190	286	1.9e-21	PFAM
low complexity region	302	322	N/A	INTRINSIC
low complexity region	326	338	N/A	INTRINSIC
internal_repeat_1	403	431	1.79e-8	PROSPERO
internal_repeat_1	472	500	1.79e-8	PROSPERO
coiled coil region	560	608	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107461
AA Change: Y138C

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

SMART Domains

Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: Y138C

Domain	Start	End	E-Value	Type
low complexity region	59	68	N/A	INTRINSIC
Pfam:FKBP_C	190	286	2e-21	PFAM
low complexity region	302	322	N/A	INTRINSIC
low complexity region	326	338	N/A	INTRINSIC
internal_repeat_1	403	431	1.86e-8	PROSPERO
internal_repeat_1	472	500	1.86e-8	PROSPERO
coiled coil region	560	608	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131977

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	T	A	10: 88,859,740 (GRCm39)	K382*	probably null	Het
Apoc2l	A	G	7: 19,405,688 (GRCm39)	*98Q	probably null	Het
Bcl9l	A	G	9: 44,420,602 (GRCm39)	Y1299C	probably damaging	Het
Best1	T	A	19: 9,966,516 (GRCm39)	H357L	probably benign	Het
Cdc26	T	C	4: 62,313,266 (GRCm39)		probably benign	Het
Esyt2	C	T	12: 116,329,541 (GRCm39)	L700F	probably benign	Het
Gbp6	T	C	5: 105,438,841 (GRCm39)	N16D	probably benign	Het
Hecw2	T	C	1: 53,963,075 (GRCm39)	D812G	probably null	Het
Hic2	G	A	16: 17,075,621 (GRCm39)	R150Q	probably damaging	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Klhl36	T	A	8: 120,596,356 (GRCm39)		probably null	Het
Matcap2	A	G	9: 22,335,724 (GRCm39)	Y114C	probably benign	Het
Mug2	C	T	6: 122,036,082 (GRCm39)		probably benign	Het
Or9s14	T	C	1: 92,535,787 (GRCm39)	V76A	possibly damaging	Het
Pdcl2	A	T	5: 76,465,728 (GRCm39)	I116N	probably damaging	Het
Pip4p1	T	C	14: 51,166,667 (GRCm39)	T187A	possibly damaging	Het
Pkn2	A	G	3: 142,517,341 (GRCm39)	I482T	probably damaging	Het
Prss53	T	G	7: 127,485,786 (GRCm39)	D518A	probably benign	Het
Psme4	A	G	11: 30,787,484 (GRCm39)	D1093G	probably benign	Het
Tmcc2	A	T	1: 132,286,645 (GRCm39)	I602N	probably damaging	Het
Ttn	C	T	2: 76,619,035 (GRCm39)	V16115I	possibly damaging	Het
Zbtb21	G	T	16: 97,752,990 (GRCm39)	T459K	possibly damaging	Het

Other mutations in Fkbp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Fkbp15	APN	4	62,251,917 (GRCm39)	splice site	probably benign
IGL01326:Fkbp15	APN	4	62,241,487 (GRCm39)	missense	probably damaging	0.98
IGL01822:Fkbp15	APN	4	62,270,741 (GRCm39)	missense	probably benign
IGL01925:Fkbp15	APN	4	62,241,450 (GRCm39)	missense	probably damaging	1.00
IGL02190:Fkbp15	APN	4	62,223,059 (GRCm39)	missense	possibly damaging	0.69
IGL02276:Fkbp15	APN	4	62,254,703 (GRCm39)	nonsense	probably null
IGL02954:Fkbp15	APN	4	62,239,302 (GRCm39)	splice site	probably benign
IGL02967:Fkbp15	APN	4	62,222,627 (GRCm39)	missense	probably damaging	0.96
IGL03136:Fkbp15	APN	4	62,258,466 (GRCm39)	splice site	probably benign
IGL03185:Fkbp15	APN	4	62,250,423 (GRCm39)	splice site	probably null
IGL03280:Fkbp15	APN	4	62,221,504 (GRCm39)	unclassified	probably benign
dura	UTSW	4	62,242,363 (GRCm39)	missense	probably damaging	0.96
mater	UTSW	4	62,244,373 (GRCm39)	missense	probably benign	0.22
R0419:Fkbp15	UTSW	4	62,244,373 (GRCm39)	missense	probably benign	0.22
R0838:Fkbp15	UTSW	4	62,242,363 (GRCm39)	missense	probably damaging	0.96
R1241:Fkbp15	UTSW	4	62,222,846 (GRCm39)	missense	possibly damaging	0.87
R1394:Fkbp15	UTSW	4	62,246,109 (GRCm39)	missense	probably benign	0.00
R1622:Fkbp15	UTSW	4	62,241,439 (GRCm39)	missense	possibly damaging	0.94
R1682:Fkbp15	UTSW	4	62,242,431 (GRCm39)	missense	probably damaging	0.98
R1823:Fkbp15	UTSW	4	62,255,328 (GRCm39)	missense	probably damaging	1.00
R1994:Fkbp15	UTSW	4	62,222,618 (GRCm39)	missense	probably benign	0.00
R2132:Fkbp15	UTSW	4	62,246,136 (GRCm39)	missense	probably damaging	1.00
R2133:Fkbp15	UTSW	4	62,246,136 (GRCm39)	missense	probably damaging	1.00
R2425:Fkbp15	UTSW	4	62,230,602 (GRCm39)	missense	probably benign	0.00
R2938:Fkbp15	UTSW	4	62,222,900 (GRCm39)	missense	probably benign	0.23
R3034:Fkbp15	UTSW	4	62,225,129 (GRCm39)	splice site	probably null
R3957:Fkbp15	UTSW	4	62,252,489 (GRCm39)	missense	probably benign	0.01
R3963:Fkbp15	UTSW	4	62,258,914 (GRCm39)	missense	probably damaging	1.00
R4235:Fkbp15	UTSW	4	62,254,693 (GRCm39)	missense	probably benign	0.38
R4334:Fkbp15	UTSW	4	62,221,456 (GRCm39)	missense	possibly damaging	0.95
R4366:Fkbp15	UTSW	4	62,254,651 (GRCm39)	missense	probably benign	0.38
R4717:Fkbp15	UTSW	4	62,226,306 (GRCm39)	missense	probably damaging	1.00
R4790:Fkbp15	UTSW	4	62,226,234 (GRCm39)	missense	probably benign	0.05
R5075:Fkbp15	UTSW	4	62,239,266 (GRCm39)	missense	probably damaging	0.96
R5176:Fkbp15	UTSW	4	62,230,560 (GRCm39)	missense	possibly damaging	0.68
R5419:Fkbp15	UTSW	4	62,246,114 (GRCm39)	missense	probably damaging	0.98
R5503:Fkbp15	UTSW	4	62,246,124 (GRCm39)	missense	probably benign	0.05
R5731:Fkbp15	UTSW	4	62,225,166 (GRCm39)	missense	probably benign	0.01
R5733:Fkbp15	UTSW	4	62,225,166 (GRCm39)	missense	probably benign	0.01
R5820:Fkbp15	UTSW	4	62,263,783 (GRCm39)	missense	probably benign	0.00
R5878:Fkbp15	UTSW	4	62,225,145 (GRCm39)	missense	probably benign
R5898:Fkbp15	UTSW	4	62,244,294 (GRCm39)	critical splice donor site	probably null
R5914:Fkbp15	UTSW	4	62,246,047 (GRCm39)	splice site	probably null
R6113:Fkbp15	UTSW	4	62,258,884 (GRCm39)	missense	probably benign	0.38
R6377:Fkbp15	UTSW	4	62,242,429 (GRCm39)	missense	probably damaging	1.00
R6427:Fkbp15	UTSW	4	62,241,439 (GRCm39)	missense	probably benign	0.01
R6464:Fkbp15	UTSW	4	62,226,315 (GRCm39)	missense	possibly damaging	0.92
R6528:Fkbp15	UTSW	4	62,250,507 (GRCm39)	missense	probably damaging	1.00
R6790:Fkbp15	UTSW	4	62,222,996 (GRCm39)	missense	probably benign	0.01
R6880:Fkbp15	UTSW	4	62,254,732 (GRCm39)	missense	possibly damaging	0.71
R6911:Fkbp15	UTSW	4	62,258,527 (GRCm39)	missense	probably damaging	1.00
R7371:Fkbp15	UTSW	4	62,239,293 (GRCm39)	missense	possibly damaging	0.89
R7410:Fkbp15	UTSW	4	62,258,536 (GRCm39)	missense	probably damaging	1.00
R7660:Fkbp15	UTSW	4	62,232,578 (GRCm39)	missense	probably benign	0.08
R7992:Fkbp15	UTSW	4	62,230,538 (GRCm39)	missense	probably damaging	1.00
R8486:Fkbp15	UTSW	4	62,230,521 (GRCm39)	nonsense	probably null
R8697:Fkbp15	UTSW	4	62,239,295 (GRCm39)	nonsense	probably null
R8880:Fkbp15	UTSW	4	62,232,602 (GRCm39)	missense	probably benign
R8998:Fkbp15	UTSW	4	62,242,365 (GRCm39)	missense	probably damaging	1.00
R9236:Fkbp15	UTSW	4	62,254,664 (GRCm39)	missense	probably damaging	0.97
R9382:Fkbp15	UTSW	4	62,237,210 (GRCm39)	missense	probably damaging	0.99
R9654:Fkbp15	UTSW	4	62,230,553 (GRCm39)	missense	probably benign	0.01
X0013:Fkbp15	UTSW	4	62,230,607 (GRCm39)	missense	probably benign	0.36

Posted On

2015-04-16