Mutagenetix > Incidental Mutations

Incidental Mutation 'R6113:Fkbp15'

484946

Institutional Source

Beutler Lab

Gene Symbol

Fkbp15

Ensembl Gene

ENSMUSG00000066151

Gene Name

FK506 binding protein 15

Synonyms

FKBP133, C430014M02Rik

MMRRC Submission

044262-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62300342-62360548 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62340647 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 124 (T124I)

Ref Sequence

ENSEMBL: ENSMUSP00000081575 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000084527
AA Change: T124I

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: T124I

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: T124I

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: T124I

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: T124I

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: T124I

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: T124I

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: T124I

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	A	16: 8,572,900	T7N	probably benign	Het
Aldh1l2	G	T	10: 83,508,134	C359*	probably null	Het
Bpifb6	G	A	2: 153,910,731	E384K	probably benign	Het
Chtf18	G	A	17: 25,722,867	R544C	probably damaging	Het
Cilp2	T	C	8: 69,882,359	D663G	probably benign	Het
Cplx3	T	A	9: 57,602,440	I92F	probably damaging	Het
Cr1l	T	C	1: 195,131,411		probably benign	Het
Cyp1a1	T	A	9: 57,701,891	F323I	probably damaging	Het
Dclk1	T	C	3: 55,489,819	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,452,863	L261P	probably damaging	Het
Dcst2	T	C	3: 89,367,885	S312P	possibly damaging	Het
Diexf	T	C	1: 193,129,502	I46V	probably null	Het
Dnah17	A	G	11: 118,126,275	L213P	probably damaging	Het
Dnd1	T	A	18: 36,765,395	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,341,003	N121S	probably benign	Het
Dsp	T	A	13: 38,192,047	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,620,414	V943A	probably benign	Het
Eml5	T	A	12: 98,824,674	K1322*	probably null	Het
Fam173b	T	C	15: 31,608,162	Y120H	probably damaging	Het
Fgf23	A	G	6: 127,078,154	T76A	probably benign	Het
Fgf6	T	C	6: 127,015,937		probably null	Het
Gm12185	A	T	11: 48,915,340	H341Q	possibly damaging	Het
Gm20647	A	G	5: 72,329,800		probably benign	Het
Lrp2	G	C	2: 69,483,557	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673	T224A	probably benign	Het
Ly75	T	G	2: 60,368,873	I175L	probably benign	Het
Morc2b	G	T	17: 33,138,068	Y243*	probably null	Het
Myo18b	C	G	5: 112,866,385	D764H	probably damaging	Het
Naip6	T	C	13: 100,299,286	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,222,263	I21N	possibly damaging	Het
P3h2	A	T	16: 25,981,153	I430K	probably benign	Het
Pcdh9	A	G	14: 93,887,108	V542A	probably damaging	Het
Pkp3	T	A	7: 141,082,656	N60K	probably damaging	Het
Pold1	C	A	7: 44,537,700	G686C	probably damaging	Het
Prdm6	T	A	18: 53,473,601	L58Q	probably damaging	Het
Rab13	C	A	3: 90,224,866	R86S	probably benign	Het
Rad21l	A	C	2: 151,657,478	L265V	probably damaging	Het
Rec8	G	A	14: 55,622,478	A228T	probably damaging	Het
Rgs12	C	A	5: 35,020,323	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,815,184	N670D	possibly damaging	Het
Slc17a7	A	G	7: 45,174,751	T464A	possibly damaging	Het
Srcap	C	A	7: 127,560,281		probably benign	Het
Srgap2	A	T	1: 131,355,505		probably null	Het
Tenm1	C	T	X: 42,827,195	G404E	probably damaging	Het
Thpo	C	A	16: 20,728,847		probably benign	Het
Tle4	A	T	19: 14,595,588		probably null	Het
Tnfrsf14	T	C	4: 154,924,492	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,649,725	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,116,379	A82V	probably benign	Het
Trib1	C	T	15: 59,651,638	R174*	probably null	Het
Trpv3	G	A	11: 73,286,018	V408I	probably benign	Het
Tyk2	A	T	9: 21,107,922	V1068E	probably damaging	Het
Usp35	A	G	7: 97,324,326	S230P	probably damaging	Het
Vav1	T	A	17: 57,301,884	D349E	probably benign	Het
Vcan	T	A	13: 89,657,536	R114*	probably null	Het
Vmn1r25	T	C	6: 57,978,572	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,491,399	T720A	probably benign	Het
Wdr72	T	A	9: 74,152,641	D444E	probably benign	Het
Zfhx3	T	A	8: 108,947,421	M1701K	probably benign	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
IGL02190:Fkbp15	APN	4	62304822	missense	possibly damaging	0.69
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
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
X0013:Fkbp15	UTSW	4	62312370	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- ATCAGAGCAGGATCCCTTCTC -3'
(R):5'- ATTCGAATTCAGTCTGGGCAG -3'

Sequencing Primer
(F):5'- ACCTCTTCCCTACACATTCCTAGGAG -3'
(R):5'- CGAATTCAGTCTGGGCAGGTTTG -3'

Posted On

2017-08-16