Mutagenetix > Incidental Mutation

Incidental Mutation 'R5793:Fkbp9'

447068

Institutional Source

Beutler Lab

Gene Symbol

Fkbp9

Ensembl Gene

ENSMUSG00000029781

Gene Name

FK506 binding protein 9

Synonyms

FKBP60, FKBP63

MMRRC Submission

043208-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R5793 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56809044-56856343 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 56850498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031795] [ENSMUST00000031795] [ENSMUST00000031795]

AlphaFold

Q9Z247

Predicted Effect

probably null
Transcript: ENSMUST00000031795

SMART Domains

Protein: ENSMUSP00000031795
Gene: ENSMUSG00000029781

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:FKBP_C	47	139	8.2e-31	PFAM
Pfam:FKBP_C	159	251	5.8e-28	PFAM
Pfam:FKBP_C	271	362	1.3e-27	PFAM
Pfam:FKBP_C	382	474	2.8e-27	PFAM
EFh	492	520	2.35e0	SMART
EFh	537	565	1.98e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000031795

SMART Domains

Protein: ENSMUSP00000031795
Gene: ENSMUSG00000029781

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:FKBP_C	47	139	8.2e-31	PFAM
Pfam:FKBP_C	159	251	5.8e-28	PFAM
Pfam:FKBP_C	271	362	1.3e-27	PFAM
Pfam:FKBP_C	382	474	2.8e-27	PFAM
EFh	492	520	2.35e0	SMART
EFh	537	565	1.98e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000031795

SMART Domains

Protein: ENSMUSP00000031795
Gene: ENSMUSG00000029781

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:FKBP_C	47	139	8.2e-31	PFAM
Pfam:FKBP_C	159	251	5.8e-28	PFAM
Pfam:FKBP_C	271	362	1.3e-27	PFAM
Pfam:FKBP_C	382	474	2.8e-27	PFAM
EFh	492	520	2.35e0	SMART
EFh	537	565	1.98e0	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12	C	A	11: 70,133,879 (GRCm39)	R522L	probably benign	Het
Arfgef1	A	T	1: 10,279,753 (GRCm39)	D271E	probably benign	Het
Arg1	C	T	10: 24,796,540 (GRCm39)	V96M	probably benign	Het
Axin1	T	C	17: 26,362,282 (GRCm39)	S209P	probably damaging	Het
B4galnt3	A	G	6: 120,185,865 (GRCm39)		probably null	Het
Cdh23	T	A	10: 60,141,907 (GRCm39)	D3058V	probably damaging	Het
Chd9	A	G	8: 91,728,384 (GRCm39)	T794A	probably damaging	Het
Ckap5	C	T	2: 91,450,180 (GRCm39)	T1891I	possibly damaging	Het
Cspg4b	G	T	13: 113,457,556 (GRCm39)	V1201L	possibly damaging	Het
Dzank1	T	C	2: 144,348,144 (GRCm39)	I207M	probably benign	Het
Gm4781	T	A	10: 100,232,529 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtpbp6	G	A	5: 110,255,094 (GRCm39)	L33F	probably benign	Het
Hsd11b1	A	C	1: 192,924,492 (GRCm39)	F27V	probably damaging	Het
Ift172	A	T	5: 31,434,292 (GRCm39)	I482N	possibly damaging	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Ly6g2	T	C	15: 75,093,493 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,653,077 (GRCm39)	Q1420R	probably benign	Het
Ncam2	G	A	16: 81,372,991 (GRCm39)	V569I	possibly damaging	Het
Nsd1	T	C	13: 55,395,819 (GRCm39)	V1140A	probably benign	Het
Ogdhl	T	A	14: 32,054,730 (GRCm39)	L226Q	probably damaging	Het
Or51a24	T	C	7: 103,734,237 (GRCm39)	T17A	probably benign	Het
Orc2	T	C	1: 58,536,547 (GRCm39)	M1V	probably null	Het
Padi2	T	C	4: 140,660,501 (GRCm39)	L327P	probably benign	Het
Palb2	T	C	7: 121,726,860 (GRCm39)	N337D	probably benign	Het
Pard3b	A	T	1: 61,807,132 (GRCm39)	H49L	probably damaging	Het
Pigz	T	C	16: 31,764,285 (GRCm39)	S448P	probably benign	Het
Ppfia4	A	G	1: 134,239,844 (GRCm39)	V911A	probably damaging	Het
Prr5	T	A	15: 84,656,223 (GRCm39)	M408K	probably benign	Het
Qser1	T	C	2: 104,593,205 (GRCm39)	Y1604C	probably damaging	Het
Rpgrip1l	A	G	8: 91,987,400 (GRCm39)	S886P	probably benign	Het
Sdk2	T	C	11: 113,759,778 (GRCm39)	I408V	possibly damaging	Het
Sema7a	A	T	9: 57,867,540 (GRCm39)	R431W	probably damaging	Het
Slc22a30	T	A	19: 8,314,183 (GRCm39)	Y501F	possibly damaging	Het
Slitrk5	T	A	14: 111,917,345 (GRCm39)	V323D	probably damaging	Het
Snap47	C	T	11: 59,329,018 (GRCm39)	E95K	probably damaging	Het
Tbc1d9	A	T	8: 83,998,069 (GRCm39)	I1209F	probably damaging	Het
Tek	T	A	4: 94,708,333 (GRCm39)	M297K	probably benign	Het
Tmem132e	T	A	11: 82,335,684 (GRCm39)	I922N	probably damaging	Het
Tmx2	T	C	2: 84,506,501 (GRCm39)	R64G	probably damaging	Het
Trim68	A	T	7: 102,333,560 (GRCm39)	S41T	possibly damaging	Het
Tsga10	A	T	1: 37,874,540 (GRCm39)	M115K	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r84	C	T	10: 130,221,754 (GRCm39)	C822Y	probably damaging	Het
Wdr72	C	T	9: 74,117,625 (GRCm39)	A779V	probably benign	Het
Zfp580	A	T	7: 5,055,891 (GRCm39)		probably benign	Het
Zfp772	G	A	7: 7,207,283 (GRCm39)	T136I	probably benign	Het

Other mutations in Fkbp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Fkbp9	APN	6	56,827,686 (GRCm39)	missense	probably damaging	0.99
IGL01398:Fkbp9	APN	6	56,837,790 (GRCm39)	splice site	probably benign
IGL02619:Fkbp9	APN	6	56,827,609 (GRCm39)	missense	probably damaging	0.99
IGL03349:Fkbp9	APN	6	56,826,703 (GRCm39)	missense	probably damaging	1.00
R0244:Fkbp9	UTSW	6	56,833,363 (GRCm39)	nonsense	probably null
R0732:Fkbp9	UTSW	6	56,855,089 (GRCm39)	missense	probably benign
R1137:Fkbp9	UTSW	6	56,837,682 (GRCm39)	missense	probably damaging	1.00
R1660:Fkbp9	UTSW	6	56,850,434 (GRCm39)	missense	probably damaging	1.00
R3862:Fkbp9	UTSW	6	56,845,890 (GRCm39)	missense	probably benign	0.27
R4597:Fkbp9	UTSW	6	56,809,367 (GRCm39)	missense	probably damaging	1.00
R4780:Fkbp9	UTSW	6	56,827,701 (GRCm39)	missense	probably damaging	0.96
R4803:Fkbp9	UTSW	6	56,852,692 (GRCm39)	missense	probably benign	0.03
R4928:Fkbp9	UTSW	6	56,826,655 (GRCm39)	missense	possibly damaging	0.52
R7336:Fkbp9	UTSW	6	56,826,712 (GRCm39)	missense	probably damaging	1.00
R7524:Fkbp9	UTSW	6	56,845,725 (GRCm39)	missense	probably damaging	1.00
R7921:Fkbp9	UTSW	6	56,828,370 (GRCm39)	missense	probably damaging	0.99
R8085:Fkbp9	UTSW	6	56,833,289 (GRCm39)	missense	probably benign
R9173:Fkbp9	UTSW	6	56,850,389 (GRCm39)	missense	possibly damaging	0.61
R9222:Fkbp9	UTSW	6	56,852,677 (GRCm39)	missense	probably damaging	1.00
R9777:Fkbp9	UTSW	6	56,855,181 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- CCACTGATAGGTACCTGTTTCC -3'
(R):5'- GCTGGCTCTTTCTCGAGAAGTC -3'

Sequencing Primer
(F):5'- GTTTCCTTTCTTTTCCAGGTGG -3'
(R):5'- ACAGTGCAATGGGTATTTGAAC -3'

Posted On

2016-12-15