Mutagenetix > Incidental Mutation

Incidental Mutation 'R4334:Fkbp15'

323685

Institutional Source

Beutler Lab

Gene Symbol

Fkbp15

Ensembl Gene

ENSMUSG00000066151

Gene Name

FK506 binding protein 15

Synonyms

C430014M02Rik, FKBP133

MMRRC Submission

041664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62218579-62278785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62221456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1170 (A1170V)

Ref Sequence

ENSEMBL: ENSMUSP00000081575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084527] [ENSMUST00000084530]

AlphaFold

Q6P9Q6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084527
AA Change: A1170V

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: A1170V

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: ENSMUST00000084530

SMART Domains

Protein: ENSMUSP00000081578
Gene: ENSMUSG00000066152

Domain	Start	End	E-Value	Type
Pfam:Ctr	1	136	1.1e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139308

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,537,242 (GRCm39)	V447E	probably damaging	Het
Adcyap1	T	C	17: 93,509,696 (GRCm39)	L49P	probably benign	Het
B4galt4	T	C	16: 38,572,621 (GRCm39)	I102T	probably damaging	Het
Cc2d2a	A	G	5: 43,840,476 (GRCm39)	D110G	probably benign	Het
Ccdc141	C	T	2: 77,000,776 (GRCm39)	V19I	probably damaging	Het
Ccdc39	A	G	3: 33,892,031 (GRCm39)	L147P	probably damaging	Het
Cdc5l	A	T	17: 45,721,712 (GRCm39)	D519E	probably benign	Het
Cdh23	G	T	10: 60,220,838 (GRCm39)	T1305K	probably damaging	Het
Cfi	T	A	3: 129,644,478 (GRCm39)	V158D	possibly damaging	Het
Clstn2	T	G	9: 97,345,581 (GRCm39)	Y589S	probably damaging	Het
Dsp	A	G	13: 38,380,640 (GRCm39)	K1863E	possibly damaging	Het
Enpp3	A	T	10: 24,669,487 (GRCm39)	M491K	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Foxa2	T	C	2: 147,886,623 (GRCm39)	N64S	possibly damaging	Het
Foxm1	T	C	6: 128,342,930 (GRCm39)	I88T	probably damaging	Het
Gm3173	A	T	14: 15,728,364 (GRCm39)	I8L	possibly damaging	Het
Gpatch3	A	G	4: 133,309,792 (GRCm39)	D375G	probably damaging	Het
Herc2	T	C	7: 55,876,402 (GRCm39)	F4436L	probably damaging	Het
Htr3b	G	A	9: 48,856,809 (GRCm39)	A223V	probably damaging	Het
Iars2	T	A	1: 185,035,591 (GRCm39)	T550S	probably benign	Het
Igsf9	A	T	1: 172,321,779 (GRCm39)	K149*	probably null	Het
Khnyn	A	G	14: 56,131,499 (GRCm39)	D536G	probably damaging	Het
Kng1	T	C	16: 22,898,370 (GRCm39)	V409A	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Madd	C	T	2: 90,970,917 (GRCm39)	V1508I	probably benign	Het
Micall2	T	C	5: 139,699,105 (GRCm39)	E527G	probably damaging	Het
Myo7b	A	G	18: 32,110,040 (GRCm39)	S1141P	probably damaging	Het
Ncoa2	G	A	1: 13,245,187 (GRCm39)	P504S	possibly damaging	Het
Notch1	G	A	2: 26,350,048 (GRCm39)	T2364I	probably benign	Het
Pde4c	T	A	8: 71,202,475 (GRCm39)		probably null	Het
Pik3cb	A	G	9: 98,943,904 (GRCm39)	L633P	probably damaging	Het
Ranbp2	T	A	10: 58,299,816 (GRCm39)	D483E	probably damaging	Het
Sh3tc2	A	G	18: 62,123,392 (GRCm39)	N718D	probably damaging	Het
Spast	G	A	17: 74,659,010 (GRCm39)	A126T	probably damaging	Het
Ssc5d	T	C	7: 4,946,663 (GRCm39)	S1006P	probably benign	Het
Tmprss6	T	A	15: 78,343,627 (GRCm39)		probably null	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc79	C	T	12: 103,045,233 (GRCm39)	T803M	probably benign	Het
Vmn2r118	A	T	17: 55,917,347 (GRCm39)	F388L	possibly damaging	Het
Vmn2r71	T	C	7: 85,269,042 (GRCm39)	V415A	probably benign	Het
Wdr4	A	T	17: 31,718,126 (GRCm39)	F316Y	possibly damaging	Het
Zfp810	T	C	9: 22,190,080 (GRCm39)	Y276C	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
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
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'- ACAGAGCTGACCACTCTGAG -3'
(R):5'- TCTTTGGAGGAACAGATGCAC -3'

Sequencing Primer
(F):5'- AGGGTCCTGTACACAGAGTC -3'
(R):5'- TTGGAGGAACAGATGCACAGTGTAG -3'

Posted On

2015-06-24