Mutagenetix > Incidental Mutation

Incidental Mutation 'R4235:Fkbp15'

321054

Institutional Source

Beutler Lab

Gene Symbol

Fkbp15

Ensembl Gene

ENSMUSG00000066151

Gene Name

FK506 binding protein 15

Synonyms

FKBP133, C430014M02Rik

MMRRC Submission

041052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4235 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62300342-62360548 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62336456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 269 (I269K)

Ref Sequence

ENSEMBL: ENSMUSP00000095641 (fasta)

Gene Model

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

AlphaFold

Q6P9Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000084527
AA Change: I269K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: I269K

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: I269K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: I269K

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: I269K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: I269K

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: I269K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: I269K

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: ENSMUST00000139308

Meta Mutation Damage Score

0.1403

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
5730596B20Rik	G	T	6: 52,178,961		probably benign	Het
9530053A07Rik	T	A	7: 28,156,648	D1953E	probably damaging	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atp7b	A	G	8: 22,011,023	Y955H	possibly damaging	Het
Bnc2	A	G	4: 84,293,514	V231A	probably damaging	Het
Bod1l	A	G	5: 41,821,455	S839P	probably damaging	Het
Casp8	T	A	1: 58,833,698	H264Q	possibly damaging	Het
Cc2d1b	A	T	4: 108,625,352		probably benign	Het
Cpne6	A	T	14: 55,513,600		probably benign	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dgkd	T	A	1: 87,931,982	L774*	probably null	Het
Fbxl2	T	A	9: 113,989,163	N205I	probably benign	Het
Gm13023	G	C	4: 143,794,774	C320S	probably damaging	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Has1	G	T	17: 17,850,036	R208S	possibly damaging	Het
Hecw1	C	G	13: 14,317,139	A423P	probably benign	Het
Hspa12b	T	C	2: 131,139,012	V162A	probably benign	Het
Ifi208	T	G	1: 173,682,911	S211A	probably benign	Het
Ighv6-3	T	C	12: 114,391,874	E65G	probably damaging	Het
Igkv9-120	A	T	6: 68,050,333	D77V	probably benign	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Kdm2a	A	G	19: 4,322,521	I932T	probably damaging	Het
Krt17	T	C	11: 100,257,868	T279A	possibly damaging	Het
Lamp1	T	C	8: 13,167,192	V67A	possibly damaging	Het
Limk1	T	C	5: 134,670,478	I142V	probably benign	Het
Mamdc2	T	C	19: 23,374,017	N182D	possibly damaging	Het
Mcpt1	G	A	14: 56,018,560		probably null	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mfsd10	G	T	5: 34,635,625	T44N	probably damaging	Het
Mrps27	T	C	13: 99,405,041	S218P	probably damaging	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Neil2	A	C	14: 63,191,841	M1R	probably null	Het
Nelfcd	T	C	2: 174,427,048	F587L	probably damaging	Het
Nfil3	T	C	13: 52,968,799	D23G	probably benign	Het
Nit2	T	C	16: 57,157,160	K169R	probably benign	Het
Nxt1	T	C	2: 148,675,347	S3P	probably benign	Het
Ogt	A	G	X: 101,667,525	N434D	probably damaging	Het
Olfr679	T	A	7: 105,085,787	S24T	possibly damaging	Het
Pcdhga5	A	G	18: 37,695,948	D483G	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rsl1	T	C	13: 67,177,162		probably null	Het
Sobp	G	A	10: 43,022,900	H230Y	probably damaging	Het
Sptan1	A	G	2: 30,026,588	E2096G	probably damaging	Het
Tie1	G	T	4: 118,478,405	S797*	probably null	Het
Tmem266	T	C	9: 55,418,107	I186T	probably damaging	Het
Tmem38b	T	C	4: 53,840,710	C66R	probably damaging	Het
Tnfaip6	T	C	2: 52,050,864	F139S	probably damaging	Het
Tnrc6a	T	C	7: 123,171,680	S898P	probably benign	Het
Trim24	A	G	6: 37,964,740	D911G	probably damaging	Het
Tyw5	T	C	1: 57,388,488		probably benign	Het
Ubr3	C	T	2: 70,016,385	Q1651*	probably null	Het
Unc13c	T	A	9: 73,530,952	I1943F	possibly damaging	Het
Usp47	T	A	7: 112,110,048	S1334T	probably damaging	Het
Vmn1r215	T	A	13: 23,075,931	V47E	probably benign	Het
Vmn1r224	T	A	17: 20,419,362	M67K	possibly damaging	Het
Wdfy3	T	A	5: 101,922,634		probably null	Het
Zfc3h1	T	C	10: 115,418,799	Y1433H	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
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
R8697:Fkbp15	UTSW	4	62321058	nonsense	probably null
R8880:Fkbp15	UTSW	4	62314365	missense	probably benign
R8998:Fkbp15	UTSW	4	62324128	missense	probably damaging	1.00
R9236:Fkbp15	UTSW	4	62336427	missense	probably damaging	0.97
R9382:Fkbp15	UTSW	4	62318973	missense	probably damaging	0.99
R9654:Fkbp15	UTSW	4	62312316	missense	probably benign	0.01
X0013:Fkbp15	UTSW	4	62312370	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- GCTTAACTCCAATGCCATTTTCAG -3'
(R):5'- GCTGTTTGACTCAAATTCTTTGGAG -3'

Sequencing Primer
(F):5'- GTGTGGTCAATACAAATCTGCACC -3'
(R):5'- TCTTTGGAGAATTCTTTGTTCACG -3'

Posted On

2015-06-12