Mutagenetix > Incidental Mutation

Incidental Mutation 'R1137:Fkbp9'

95154

Institutional Source

Beutler Lab

Gene Symbol

Fkbp9

Ensembl Gene

ENSMUSG00000029781

Gene Name

FK506 binding protein 9

Synonyms

FKBP60, FKBP63

MMRRC Submission

039210-MU

Accession Numbers

Essential gene?

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

Stock #

R1137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56809044-56856343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56837682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 312 (G312V)

Ref Sequence

ENSEMBL: ENSMUSP00000031795 (fasta)

Gene Model

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

AlphaFold

Q9Z247

Predicted Effect

probably damaging
Transcript: ENSMUST00000031795
AA Change: G312V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031795
Gene: ENSMUSG00000029781
AA Change: G312V

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,256 (GRCm39)	S54T	probably benign	Het
Ahdc1	A	G	4: 132,789,424 (GRCm39)	T222A	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Cep250	A	G	2: 155,832,760 (GRCm39)	K1561E	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Clca4a	A	G	3: 144,676,446 (GRCm39)	V78A	probably damaging	Het
Clec4n	G	A	6: 123,223,526 (GRCm39)	M170I	possibly damaging	Het
Cp	G	T	3: 20,033,116 (GRCm39)	A648S	probably benign	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dnah8	A	G	17: 31,074,910 (GRCm39)	D4543G	probably damaging	Het
Elp3	A	G	14: 65,785,370 (GRCm39)	V477A	probably damaging	Het
Exoc6b	A	G	6: 84,885,205 (GRCm39)	S245P	probably benign	Het
Htr4	A	G	18: 62,570,624 (GRCm39)	I226M	probably damaging	Het
Impa2	G	A	18: 67,451,497 (GRCm39)	V264I	probably benign	Het
Kif20b	T	C	19: 34,914,486 (GRCm39)		probably null	Het
Kmt2c	C	A	5: 25,515,981 (GRCm39)	V2621F	possibly damaging	Het
Lif	A	G	11: 4,219,237 (GRCm39)	D172G	probably damaging	Het
Llgl1	C	A	11: 60,595,559 (GRCm39)	H82N	probably benign	Het
Lrwd1	T	C	5: 136,162,273 (GRCm39)	I162M	probably benign	Het
Mdn1	T	A	4: 32,694,511 (GRCm39)	I1078N	probably damaging	Het
Muc1	A	T	3: 89,137,745 (GRCm39)	T196S	probably benign	Het
Myh7b	T	C	2: 155,464,634 (GRCm39)	L657P	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Ppp1cb	T	C	5: 32,645,015 (GRCm39)	M55T	probably damaging	Het
Ppp1r9a	T	C	6: 5,159,697 (GRCm39)	M1078T	possibly damaging	Het
Rarg	T	C	15: 102,149,595 (GRCm39)	T125A	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Slc5a7	G	A	17: 54,600,039 (GRCm39)	R125C	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tigit	G	T	16: 43,469,485 (GRCm39)	T202N	probably benign	Het
Tmem132b	C	T	5: 125,860,606 (GRCm39)	A617V	possibly damaging	Het
Tpm1	T	C	9: 66,938,400 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,768,659 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,852,422 (GRCm39)	D846V	probably damaging	Het
Vmn1r16	T	G	6: 57,300,221 (GRCm39)	N134H	probably damaging	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
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
R5793:Fkbp9	UTSW	6	56,850,498 (GRCm39)	critical splice donor site	probably null
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'- AGGGGCTGTGTCCTCAGATTCTATG -3'
(R):5'- GGGTGGAAAGCTGTTGCAAACC -3'

Sequencing Primer
(F):5'- TCCTCAGATTCTATGGTTGAGC -3'
(R):5'- AGACTCCCTGTTTTGTGTCTAGAAG -3'

Posted On

2014-01-05