Mutagenetix > Incidental Mutation

Incidental Mutation 'R8160:Fam209'

633467

Institutional Source

Beutler Lab

Gene Symbol

Fam209

Ensembl Gene

ENSMUSG00000027505

Gene Name

family with sequence similarity 209

Synonyms

1700029J11Rik

MMRRC Submission

067586-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172314474-172316236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 172314645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 45 (I45F)

Ref Sequence

ENSEMBL: ENSMUSP00000029007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029005] [ENSMUST00000029007]

AlphaFold

A2APA5

Predicted Effect

probably benign
Transcript: ENSMUST00000029005

SMART Domains

Protein: ENSMUSP00000029005
Gene: ENSMUSG00000027502

Domain	Start	End	E-Value	Type
Pfam:Rtf2	1	290	1.5e-99	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029007
AA Change: I45F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029007
Gene: ENSMUSG00000027505
AA Change: I45F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:FAM209	21	168	9.1e-78	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	C	T	7: 133,569,770 (GRCm39)		probably null	Het
Aldh8a1	A	G	10: 21,271,690 (GRCm39)	D472G	possibly damaging	Het
Appl1	T	C	14: 26,650,592 (GRCm39)	I527V	probably benign	Het
Arhgef4	C	A	1: 34,762,655 (GRCm39)	T637K	unknown	Het
Atp7b	G	A	8: 22,487,575 (GRCm39)	A1273V	probably damaging	Het
Ccl20	T	A	1: 83,095,543 (GRCm39)	S35T		Het
Cdh24	C	A	14: 54,875,946 (GRCm39)	V208F	probably damaging	Het
Dchs2	A	T	3: 83,178,112 (GRCm39)	Q1055L	probably benign	Het
Dock8	G	A	19: 25,124,711 (GRCm39)	R1009Q	probably damaging	Het
Ext2	A	T	2: 93,644,107 (GRCm39)	V58E	probably benign	Het
Hfm1	T	C	5: 107,043,899 (GRCm39)	Y579C	probably null	Het
Hipk4	C	T	7: 27,223,186 (GRCm39)	A82V	possibly damaging	Het
Il17rc	A	G	6: 113,453,489 (GRCm39)	Y223C	possibly damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kdm5b	T	A	1: 134,541,657 (GRCm39)	M744K	probably damaging	Het
Mettl16	T	C	11: 74,708,505 (GRCm39)	V568A	probably damaging	Het
Mink1	C	T	11: 70,496,907 (GRCm39)	Q422*	probably null	Het
Mvb12b	G	T	2: 33,730,234 (GRCm39)	D81E	probably benign	Het
Nostrin	A	T	2: 69,009,810 (GRCm39)	I313F	probably damaging	Het
Nsun6	A	G	2: 15,014,219 (GRCm39)		probably null	Het
Nt5dc1	T	A	10: 34,200,392 (GRCm39)	E209V	possibly damaging	Het
Oasl2	T	C	5: 115,039,347 (GRCm39)		probably benign	Het
Or10a49	C	T	7: 108,467,995 (GRCm39)	R122Q	possibly damaging	Het
Or6aa1	C	T	7: 86,044,473 (GRCm39)	V78M	possibly damaging	Het
Or7e166	T	A	9: 19,624,085 (GRCm39)		probably benign	Het
Ppm1h	A	T	10: 122,638,341 (GRCm39)	T204S	probably benign	Het
Rad51b	T	A	12: 79,350,115 (GRCm39)	L70I	probably benign	Het
Smok3c	A	G	5: 138,063,286 (GRCm39)	T258A	possibly damaging	Het
Snai2	T	C	16: 14,524,668 (GRCm39)	V58A	possibly damaging	Het
Spmip7	T	C	11: 11,437,734 (GRCm39)	S246P	unknown	Het
St6galnac1	G	A	11: 116,666,316 (GRCm39)		probably benign	Het
Tasor	T	A	14: 27,171,913 (GRCm39)	N420K	probably damaging	Het

Other mutations in Fam209

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Fam209	APN	2	172,316,102 (GRCm39)	missense	probably damaging	1.00
R0147:Fam209	UTSW	2	172,315,900 (GRCm39)	missense	probably damaging	0.99
R0148:Fam209	UTSW	2	172,315,900 (GRCm39)	missense	probably damaging	0.99
R0558:Fam209	UTSW	2	172,314,758 (GRCm39)	missense	probably benign	0.01
R0584:Fam209	UTSW	2	172,316,081 (GRCm39)	missense	probably benign	0.00
R0615:Fam209	UTSW	2	172,316,053 (GRCm39)	missense	probably benign
R0882:Fam209	UTSW	2	172,314,555 (GRCm39)	missense	probably benign
R2001:Fam209	UTSW	2	172,314,689 (GRCm39)	missense	probably benign	0.09
R2002:Fam209	UTSW	2	172,314,689 (GRCm39)	missense	probably benign	0.09
R3725:Fam209	UTSW	2	172,315,915 (GRCm39)	missense	probably benign	0.02
R3726:Fam209	UTSW	2	172,315,915 (GRCm39)	missense	probably benign	0.02
R3892:Fam209	UTSW	2	172,314,618 (GRCm39)	missense	probably damaging	0.98
R6697:Fam209	UTSW	2	172,316,123 (GRCm39)	missense	probably damaging	1.00
R7051:Fam209	UTSW	2	172,315,969 (GRCm39)	missense	probably damaging	0.97
R7052:Fam209	UTSW	2	172,314,751 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ACACTAGCCCATCAGTGTCTC -3'
(R):5'- GTCCTACTTGTAGGAACCTAACCTG -3'

Sequencing Primer
(F):5'- ATCAGTGTCTCTGGCACCACG -3'
(R):5'- AACCTAACCTGGGTTTCTGAGAGC -3'

Posted On

2020-07-13