Mutagenetix > Incidental Mutation

Incidental Mutation 'R6790:Fkbp15'

532543

Institutional Source

Beutler Lab

Gene Symbol

Fkbp15

Ensembl Gene

ENSMUSG00000066151

Gene Name

FK506 binding protein 15

Synonyms

C430014M02Rik, FKBP133

MMRRC Submission

044903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62218579-62278785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62222996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 968 (T968A)

Ref Sequence

ENSEMBL: ENSMUSP00000081575 (fasta)

Gene Model

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

AlphaFold

Q6P9Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000084527
AA Change: T968A

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

SMART Domains

Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: T968A

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	A	4: 155,987,448 (GRCm39)	S457T	probably damaging	Het
Adgrf3	A	G	5: 30,401,385 (GRCm39)	V881A	probably benign	Het
Ankrd65	T	G	4: 155,877,260 (GRCm39)		probably null	Het
Ascc3	A	G	10: 50,521,808 (GRCm39)	E441G	probably damaging	Het
Atf5	A	T	7: 44,462,679 (GRCm39)		probably null	Het
Cfap97	G	T	8: 46,623,113 (GRCm39)	V168L	possibly damaging	Het
Crh	T	G	3: 19,748,459 (GRCm39)	E61A	probably damaging	Het
Cx3cr1	C	T	9: 119,880,833 (GRCm39)	V190M	probably damaging	Het
Cyp3a59	A	C	5: 146,033,143 (GRCm39)	M172L	probably benign	Het
Dnm1	T	C	2: 32,223,079 (GRCm39)	K445R	probably damaging	Het
Eng	C	A	2: 32,559,457 (GRCm39)	T82N	probably damaging	Het
Fsip2	A	G	2: 82,821,283 (GRCm39)	N5672S	possibly damaging	Het
Gm21149	A	C	5: 15,677,103 (GRCm39)	D250E	unknown	Het
Gon4l	A	G	3: 88,766,305 (GRCm39)	E448G	probably damaging	Het
Hrnr	T	C	3: 93,236,382 (GRCm39)	S2207P	unknown	Het
Itga4	C	A	2: 79,155,958 (GRCm39)	H975N	probably benign	Het
Kdm4c	A	G	4: 74,309,698 (GRCm39)	K954E	probably damaging	Het
Lrrc20	G	T	10: 61,362,898 (GRCm39)	V48F	probably damaging	Het
Mga	A	G	2: 119,754,235 (GRCm39)	I915V	probably damaging	Het
Npc1l1	C	T	11: 6,164,260 (GRCm39)		probably null	Het
Nup50l	T	C	6: 96,142,304 (GRCm39)	T247A	probably benign	Het
Or3a1b	T	A	11: 74,012,427 (GRCm39)	L104H	probably damaging	Het
Pate13	G	T	9: 35,820,127 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,373,261 (GRCm39)	V176I	probably benign	Het
Pira2	A	C	7: 3,845,442 (GRCm39)	V314G	probably damaging	Het
Potefam3e	A	T	8: 19,779,801 (GRCm39)	I14F	probably benign	Het
Rims1	T	C	1: 22,507,278 (GRCm39)	D624G	probably damaging	Het
Secisbp2	A	G	13: 51,824,939 (GRCm39)	T396A	probably benign	Het
Slc28a3	T	C	13: 58,730,464 (GRCm39)	D84G	probably benign	Het
Slc8a3	T	C	12: 81,361,206 (GRCm39)	T538A	probably benign	Het
Slk	T	A	19: 47,624,007 (GRCm39)	C991S	probably damaging	Het
Stmn1	T	C	4: 134,198,125 (GRCm39)	L54S	probably damaging	Het
Tuft1	C	G	3: 94,535,537 (GRCm39)	E128D	possibly damaging	Het
Ugt8a	T	C	3: 125,665,340 (GRCm39)	T386A	possibly damaging	Het
Zdhhc20	A	G	14: 58,127,600 (GRCm39)	V13A	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
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
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'- ACAGGTCCTGGAGGTTTAGG -3'
(R):5'- ACATGCTGTCTTCCTGTCAGTG -3'

Sequencing Primer
(F):5'- ACTCTGTGAGCTGGGATGCC -3'
(R):5'- GTCAGTGTCACCTCCTCCTTGG -3'

Posted On

2018-08-29