Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01596:Faf2'

91946

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Faf2

Ensembl Gene

ENSMUSG00000025873

Gene Name

Fas associated factor family member 2

Synonyms

Ubxd8, 2210404D11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

IGL01596

Quality Score

Status

Chromosome

Chromosomal Location

54769597-54811876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54769716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 21 (Q21H)

Ref Sequence

ENSEMBL: ENSMUSP00000121182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026991] [ENSMUST00000124752] [ENSMUST00000126071] [ENSMUST00000126071] [ENSMUST00000135015] [ENSMUST00000135232] [ENSMUST00000137413]

AlphaFold

Q3TDN2

Predicted Effect

probably null
Transcript: ENSMUST00000026991
AA Change: Q21H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026991
Gene: ENSMUSG00000025873
AA Change: Q21H

Domain	Start	End	E-Value	Type
Pfam:UBA_4	14	57	1.3e-12	PFAM
Pfam:UBA	28	49	5.3e-6	PFAM
UAS	119	244	1.98e-58	SMART
coiled coil region	270	331	N/A	INTRINSIC
Pfam:UBX	337	422	4.7e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000124752

SMART Domains

Protein: ENSMUSP00000121606
Gene: ENSMUSG00000025873

Domain	Start	End	E-Value	Type
UAS	28	163	1.31e-40	SMART
coiled coil region	189	250	N/A	INTRINSIC
low complexity region	251	261	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000126071
AA Change: Q21H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121182
Gene: ENSMUSG00000025873
AA Change: Q21H

Domain	Start	End	E-Value	Type
Pfam:UBA_4	14	57	1.8e-12	PFAM
UAS	138	263	1.98e-58	SMART
coiled coil region	289	350	N/A	INTRINSIC
Pfam:UBX	357	441	7e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000126071
AA Change: Q21H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121182
Gene: ENSMUSG00000025873
AA Change: Q21H

Domain	Start	End	E-Value	Type
Pfam:UBA_4	14	57	1.8e-12	PFAM
UAS	138	263	1.98e-58	SMART
coiled coil region	289	350	N/A	INTRINSIC
Pfam:UBX	357	441	7e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135015
AA Change: Q21H

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably null
Transcript: ENSMUST00000135232

SMART Domains

Protein: ENSMUSP00000123026
Gene: ENSMUSG00000025873

Domain	Start	End	E-Value	Type
Pfam:UBA	1	21	1e-6	PFAM
Blast:UAS	28	63	1e-16	BLAST
Blast:UAS	110	132	2e-8	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000137413

SMART Domains

Protein: ENSMUSP00000116612
Gene: ENSMUSG00000025873

Domain	Start	End	E-Value	Type
Pfam:UBA	1	21	4.1e-7	PFAM
Pfam:UBA_4	1	29	2.1e-7	PFAM
transmembrane domain	49	71	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220453

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the liver exhibit high-fat diet-induced periportal steatosis with reduced circulating lipid levels and ApoB secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	T	C	3: 137,932,003 (GRCm39)	S206P	probably damaging	Het
Arhgef10	G	T	8: 15,049,468 (GRCm39)	E869*	probably null	Het
C87436	T	A	6: 86,423,201 (GRCm39)	D258E	probably damaging	Het
Casp8ap2	A	G	4: 32,646,365 (GRCm39)	K1813E	probably damaging	Het
Cd209b	T	A	8: 3,968,744 (GRCm39)	D304V	probably damaging	Het
Chmp2b	T	C	16: 65,359,363 (GRCm39)	D11G	probably benign	Het
Comp	A	G	8: 70,831,285 (GRCm39)	N384S	probably damaging	Het
Dbnl	A	G	11: 5,748,279 (GRCm39)	Y336C	probably damaging	Het
Fam117b	A	T	1: 59,992,130 (GRCm39)	K260*	probably null	Het
Gramd1b	A	G	9: 40,214,809 (GRCm39)	L379P	probably damaging	Het
Iars1	A	G	13: 49,856,652 (GRCm39)	N302D	probably benign	Het
Kcnh6	C	T	11: 105,917,572 (GRCm39)	T702I	probably benign	Het
Kdelr2	A	G	5: 143,398,330 (GRCm39)	Y59C	probably damaging	Het
Mgam	T	C	6: 40,635,204 (GRCm39)	Y300H	probably damaging	Het
Or3a1d	T	C	11: 74,238,245 (GRCm39)	E55G	possibly damaging	Het
Or4e1	C	T	14: 52,700,822 (GRCm39)	V215M	probably damaging	Het
Or4k40	A	G	2: 111,251,237 (GRCm39)	S20P	probably benign	Het
Pcdh17	T	C	14: 84,685,632 (GRCm39)	W700R	probably damaging	Het
Pigq	T	G	17: 26,146,660 (GRCm39)	H615P	possibly damaging	Het
Pkhd1l1	T	A	15: 44,392,806 (GRCm39)	S1714T	possibly damaging	Het
Polr1b	G	T	2: 128,952,046 (GRCm39)	R358I	probably benign	Het
Tmprss11a	C	A	5: 86,570,378 (GRCm39)	V194F	probably damaging	Het
Trhr	T	C	15: 44,092,708 (GRCm39)	I315T	probably damaging	Het
Ttc38	G	A	15: 85,720,274 (GRCm39)	V79M	possibly damaging	Het
Ubr4	T	A	4: 139,189,845 (GRCm39)		probably benign	Het
Vmn2r45	T	C	7: 8,486,272 (GRCm39)	T339A	probably damaging	Het
Vps53	A	G	11: 75,953,863 (GRCm39)	F501S	probably damaging	Het

Other mutations in Faf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Faf2	APN	13	54,789,311 (GRCm39)	critical splice donor site	probably null
IGL02861:Faf2	APN	13	54,796,235 (GRCm39)	missense	probably damaging	1.00
R0578:Faf2	UTSW	13	54,769,658 (GRCm39)	missense	possibly damaging	0.90
R1696:Faf2	UTSW	13	54,786,067 (GRCm39)	makesense	probably null
R1925:Faf2	UTSW	13	54,799,865 (GRCm39)	missense	probably damaging	1.00
R2151:Faf2	UTSW	13	54,796,220 (GRCm39)	missense	probably damaging	1.00
R5658:Faf2	UTSW	13	54,789,347 (GRCm39)	missense	probably benign	0.40
R6818:Faf2	UTSW	13	54,789,419 (GRCm39)	splice site	probably null
R7571:Faf2	UTSW	13	54,798,027 (GRCm39)	missense	probably damaging	0.97
R7814:Faf2	UTSW	13	54,808,774 (GRCm39)	missense	probably benign	0.16
R8983:Faf2	UTSW	13	54,769,726 (GRCm39)	missense	probably benign	0.27
R9015:Faf2	UTSW	13	54,796,139 (GRCm39)	missense	probably benign	0.00
R9165:Faf2	UTSW	13	54,799,951 (GRCm39)	missense	probably benign	0.01

Posted On

2013-12-09