Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01822:Fkbp15'

154585

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 #

IGL01822

Quality Score

Status

Chromosome

Chromosomal Location

62218579-62278785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62270741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 32 (M32T)

Ref Sequence

ENSEMBL: ENSMUSP00000103085 (fasta)

Gene Model

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

AlphaFold

Q6P9Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000084527
AA Change: M32T

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

SMART Domains

Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: M32T

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 benign
Transcript: ENSMUST00000084528
AA Change: M32T

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

SMART Domains

Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: M32T

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 benign
Transcript: ENSMUST00000098033
AA Change: M32T

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

SMART Domains

Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: M32T

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 benign
Transcript: ENSMUST00000107461
AA Change: M32T

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

SMART Domains

Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: M32T

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cald1	A	T	6: 34,730,507 (GRCm39)	T269S	probably damaging	Het
Cntnap5c	T	A	17: 58,362,700 (GRCm39)	I351N	probably damaging	Het
Dhcr7	T	A	7: 143,399,236 (GRCm39)	I296N	probably damaging	Het
Dnah17	A	G	11: 117,972,819 (GRCm39)	F2038S	probably damaging	Het
Dsel	A	G	1: 111,789,626 (GRCm39)	L303P	probably damaging	Het
Fabp12	G	A	3: 10,311,082 (GRCm39)	R127*	probably null	Het
Fgf12	A	T	16: 28,008,351 (GRCm39)	S150T	possibly damaging	Het
Lrrc66	G	A	5: 73,787,311 (GRCm39)	T13I	probably benign	Het
Mmgt2	T	C	11: 62,555,832 (GRCm39)	V60A	possibly damaging	Het
Neb	G	T	2: 52,148,758 (GRCm39)	S2596R	possibly damaging	Het
Nfkbib	T	C	7: 28,461,134 (GRCm39)	D171G	probably benign	Het
Oas1a	T	C	5: 121,037,277 (GRCm39)	E250G	probably benign	Het
Or2n1	C	A	17: 38,486,339 (GRCm39)	D121E	probably damaging	Het
Or4a27	A	T	2: 88,559,136 (GRCm39)	I269N	probably benign	Het
Rnf182	T	C	13: 43,821,508 (GRCm39)	C20R	probably damaging	Het
Scn3a	T	C	2: 65,325,608 (GRCm39)	K970E	probably damaging	Het
Slc30a2	T	A	4: 134,075,948 (GRCm39)	Y192N	probably damaging	Het
Ttn	C	T	2: 76,616,670 (GRCm39)	E16528K	possibly damaging	Het
Vmn2r100	T	A	17: 19,725,100 (GRCm39)	C10S	probably null	Het
Vmn2r61	A	T	7: 41,950,130 (GRCm39)	H850L	probably benign	Het
Vmn2r87	T	C	10: 130,307,991 (GRCm39)	Y749C	probably damaging	Het
Wnt5b	A	T	6: 119,410,433 (GRCm39)	C336S	probably damaging	Het
Zfp398	G	A	6: 47,843,205 (GRCm39)	R287Q	probably 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
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
IGL02310:Fkbp15	APN	4	62,258,553 (GRCm39)	missense	probably damaging	1.00
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

2014-02-04