Mutagenetix > Incidental Mutation

Incidental Mutation 'R5731:Fkbp15'

452748

Institutional Source

Beutler Lab

Gene Symbol

Fkbp15

Ensembl Gene

ENSMUSG00000066151

Gene Name

FK506 binding protein 15

Synonyms

C430014M02Rik, FKBP133

MMRRC Submission

043192-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62218579-62278785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 62225166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 831 (A831G)

Ref Sequence

ENSEMBL: ENSMUSP00000081575 (fasta)

Gene Model

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

AlphaFold

Q6P9Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000084527
AA Change: A831G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: A831G

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

SMART Domains

Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151

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

noncoding transcript
Transcript: ENSMUST00000139308

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	G	8: 33,919,353 (GRCm39)	I58V	unknown	Het
Abca4	G	T	3: 121,926,242 (GRCm39)	G18V	probably damaging	Het
Arl9	T	C	5: 77,154,374 (GRCm39)	V34A	possibly damaging	Het
Bpifb9a	A	T	2: 154,104,163 (GRCm39)	N202I	possibly damaging	Het
C1qtnf6	A	T	15: 78,411,514 (GRCm39)	M54K	probably benign	Het
Ccdc62	T	C	5: 124,089,352 (GRCm39)		probably null	Het
Cd177	A	G	7: 24,443,846 (GRCm39)	C751R	probably damaging	Het
Clcn3	T	C	8: 61,375,923 (GRCm39)	I657V	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dag1	T	C	9: 108,095,310 (GRCm39)	T61A	probably benign	Het
Fam184b	C	T	5: 45,710,471 (GRCm39)	G553E	probably benign	Het
Flt1	T	C	5: 147,614,962 (GRCm39)	H328R	probably benign	Het
Fmnl2	T	A	2: 53,008,149 (GRCm39)		probably null	Het
Gm5431	A	G	11: 48,785,275 (GRCm39)	Y89H	probably damaging	Het
Gprin2	C	A	14: 33,917,397 (GRCm39)	L124F	probably damaging	Het
Hacd2	T	A	16: 34,922,374 (GRCm39)	Y188N	probably damaging	Het
Itgad	A	G	7: 127,797,726 (GRCm39)	T950A	probably benign	Het
Kit	T	A	5: 75,815,075 (GRCm39)	I933N	possibly damaging	Het
Klhl11	A	T	11: 100,354,589 (GRCm39)	Y411N	probably damaging	Het
N4bp2	T	C	5: 65,966,500 (GRCm39)	S1313P	probably damaging	Het
Neurog1	T	C	13: 56,399,354 (GRCm39)	K131R	probably damaging	Het
Or11h6	T	C	14: 50,880,248 (GRCm39)	L170P	probably damaging	Het
Or5d16	T	A	2: 87,773,771 (GRCm39)	H67L	possibly damaging	Het
Otogl	T	C	10: 107,717,325 (GRCm39)	D382G	probably damaging	Het
Pcdh1	A	C	18: 38,331,651 (GRCm39)	F590V	probably damaging	Het
Pcdha5	G	A	18: 37,093,820 (GRCm39)	V110M	probably damaging	Het
Pdlim3	A	G	8: 46,368,284 (GRCm39)	N261D	probably benign	Het
Pou4f1	T	C	14: 104,703,347 (GRCm39)	T362A	unknown	Het
Prlr	A	G	15: 10,314,221 (GRCm39)	T9A	probably benign	Het
Psmb7	T	C	2: 38,478,289 (GRCm39)	Y245C	probably damaging	Het
Ryr3	T	A	2: 112,471,917 (GRCm39)	D4515V	probably damaging	Het
Svop	T	C	5: 114,198,124 (GRCm39)	K149E	probably damaging	Het
Tlr3	A	G	8: 45,851,157 (GRCm39)	V56A	probably benign	Het
Tm4sf20	T	G	1: 82,738,013 (GRCm39)	I93L	probably benign	Het
Ugt2b5	T	A	5: 87,288,111 (GRCm39)	R19*	probably null	Het
Vmn2r28	G	T	7: 5,491,668 (GRCm39)	T193K	probably benign	Het
Vps13c	A	G	9: 67,802,661 (GRCm39)	D654G	probably damaging	Het
Zfyve16	T	A	13: 92,644,701 (GRCm39)	Q1167L	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGACCTACCACCCTATTGACATG -3'
(R):5'- GCCAAGGGTCTTTGAATTCTATG -3'

Sequencing Primer
(F):5'- CTACCACCCTATTGACATGTAAAAG -3'
(R):5'- CTATGAAGAATGGGCTTCCTTTG -3'

Posted On

2017-01-03