Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Fkbp15'

283842

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fkbp15

Ensembl Gene

ENSMUSG00000066151

Gene Name

FK506 binding protein 15

Synonyms

FKBP133, C430014M02Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

62300342-62360548 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62304822 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 947 (P947T)

Ref Sequence

ENSEMBL: ENSMUSP00000081575 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084527
AA Change: P947T

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: P947T

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

noncoding transcript
Transcript: ENSMUST00000139308

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Fkbp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Fkbp15	APN	4	62333680	splice site	probably benign
IGL01326:Fkbp15	APN	4	62323250	missense	probably damaging	0.98
IGL01822:Fkbp15	APN	4	62352504	missense	probably benign
IGL01925:Fkbp15	APN	4	62323213	missense	probably damaging	1.00
IGL02276:Fkbp15	APN	4	62336466	nonsense	probably null
IGL02310:Fkbp15	APN	4	62340316	missense	probably damaging	1.00
IGL02954:Fkbp15	APN	4	62321065	splice site	probably benign
IGL02967:Fkbp15	APN	4	62304390	missense	probably damaging	0.96
IGL03136:Fkbp15	APN	4	62340229	splice site	probably benign
IGL03185:Fkbp15	APN	4	62332186	splice site	probably null
IGL03280:Fkbp15	APN	4	62303267	unclassified	probably benign
dura	UTSW	4	62324126	missense	probably damaging	0.96
mater	UTSW	4	62326136	missense	probably benign	0.22
R0419:Fkbp15	UTSW	4	62326136	missense	probably benign	0.22
R0838:Fkbp15	UTSW	4	62324126	missense	probably damaging	0.96
R1241:Fkbp15	UTSW	4	62304609	missense	possibly damaging	0.87
R1394:Fkbp15	UTSW	4	62327872	missense	probably benign	0.00
R1622:Fkbp15	UTSW	4	62323202	missense	possibly damaging	0.94
R1682:Fkbp15	UTSW	4	62324194	missense	probably damaging	0.98
R1823:Fkbp15	UTSW	4	62337091	missense	probably damaging	1.00
R1994:Fkbp15	UTSW	4	62304381	missense	probably benign	0.00
R2132:Fkbp15	UTSW	4	62327899	missense	probably damaging	1.00
R2133:Fkbp15	UTSW	4	62327899	missense	probably damaging	1.00
R2425:Fkbp15	UTSW	4	62312365	missense	probably benign	0.00
R2938:Fkbp15	UTSW	4	62304663	missense	probably benign	0.23
R3034:Fkbp15	UTSW	4	62306892	splice site	probably null
R3957:Fkbp15	UTSW	4	62334252	missense	probably benign	0.01
R3963:Fkbp15	UTSW	4	62340677	missense	probably damaging	1.00
R4235:Fkbp15	UTSW	4	62336456	missense	probably benign	0.38
R4334:Fkbp15	UTSW	4	62303219	missense	possibly damaging	0.95
R4366:Fkbp15	UTSW	4	62336414	missense	probably benign	0.38
R4717:Fkbp15	UTSW	4	62308069	missense	probably damaging	1.00
R4790:Fkbp15	UTSW	4	62307997	missense	probably benign	0.05
R5075:Fkbp15	UTSW	4	62321029	missense	probably damaging	0.96
R5176:Fkbp15	UTSW	4	62312323	missense	possibly damaging	0.68
R5419:Fkbp15	UTSW	4	62327877	missense	probably damaging	0.98
R5503:Fkbp15	UTSW	4	62327887	missense	probably benign	0.05
R5731:Fkbp15	UTSW	4	62306929	missense	probably benign	0.01
R5733:Fkbp15	UTSW	4	62306929	missense	probably benign	0.01
R5820:Fkbp15	UTSW	4	62345546	missense	probably benign	0.00
R5878:Fkbp15	UTSW	4	62306908	missense	probably benign
R5898:Fkbp15	UTSW	4	62326057	critical splice donor site	probably null
R5914:Fkbp15	UTSW	4	62327810	splice site	probably null
R6113:Fkbp15	UTSW	4	62340647	missense	probably benign	0.38
R6377:Fkbp15	UTSW	4	62324192	missense	probably damaging	1.00
R6427:Fkbp15	UTSW	4	62323202	missense	probably benign	0.01
R6464:Fkbp15	UTSW	4	62308078	missense	possibly damaging	0.92
R6528:Fkbp15	UTSW	4	62332270	missense	probably damaging	1.00
R6790:Fkbp15	UTSW	4	62304759	missense	probably benign	0.01
R6880:Fkbp15	UTSW	4	62336495	missense	possibly damaging	0.71
R6911:Fkbp15	UTSW	4	62340290	missense	probably damaging	1.00
R7371:Fkbp15	UTSW	4	62321056	missense	possibly damaging	0.89
R7410:Fkbp15	UTSW	4	62340299	missense	probably damaging	1.00
R7660:Fkbp15	UTSW	4	62314341	missense	probably benign	0.08
R7992:Fkbp15	UTSW	4	62312301	missense	probably damaging	1.00
R8486:Fkbp15	UTSW	4	62312284	nonsense	probably null
X0013:Fkbp15	UTSW	4	62312370	missense	probably benign	0.36

Posted On

2015-04-16