Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02381:Fam3a'

291371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam3a

Ensembl Gene

ENSMUSG00000031399

Gene Name

FAM3 metabolism regulating signaling molecule A

Synonyms

1810037C20Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02381

Quality Score

Status

Chromosome

Chromosomal Location

73428325-73436878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73430690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 112 (G112E)

Ref Sequence

ENSEMBL: ENSMUSP00000114748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015427] [ENSMUST00000114138] [ENSMUST00000114139] [ENSMUST00000114141] [ENSMUST00000114142] [ENSMUST00000114143] [ENSMUST00000122894] [ENSMUST00000141604] [ENSMUST00000149218]

AlphaFold

Q9D8T0

Predicted Effect

probably damaging
Transcript: ENSMUST00000015427
AA Change: G112E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015427
Gene: ENSMUSG00000031399
AA Change: G112E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2YOP\|C	45	225	5e-40	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000114138
AA Change: G112E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109774
Gene: ENSMUSG00000031399
AA Change: G112E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2YOQ\|C	45	142	7e-14	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000114139
AA Change: G74E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109775
Gene: ENSMUSG00000031399
AA Change: G74E

Domain	Start	End	E-Value	Type
PDB:2YOP\|C	7	187	8e-41	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000114141
AA Change: G119E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109777
Gene: ENSMUSG00000031399
AA Change: G119E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:ILEI	103	202	6.6e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114142
AA Change: G112E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109778
Gene: ENSMUSG00000031399
AA Change: G112E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2YOP\|C	45	225	5e-40	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000114143
AA Change: G112E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109779
Gene: ENSMUSG00000031399
AA Change: G112E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2YOP\|C	45	225	5e-40	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000122894
AA Change: G112E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114748
Gene: ENSMUSG00000031399
AA Change: G112E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2YOP\|C	45	199	5e-31	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000141604

SMART Domains

Protein: ENSMUSP00000120127
Gene: ENSMUSG00000031399

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149218

SMART Domains

Protein: ENSMUSP00000121662
Gene: ENSMUSG00000031399

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136716

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine-like protein. The expression of this gene may be regulated by peroxisome proliferator-activated receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,904,413 (GRCm39)	I126F	probably damaging	Het
Antxrl	T	G	14: 33,778,568 (GRCm39)		probably null	Het
Arsa	A	T	15: 89,359,740 (GRCm39)	Y62*	probably null	Het
Atg2b	C	A	12: 105,614,607 (GRCm39)	C1108F	probably damaging	Het
Atp8a1	T	C	5: 67,863,338 (GRCm39)	Q651R	probably benign	Het
Atxn7l2	A	G	3: 108,111,811 (GRCm39)		probably benign	Het
Cacna1f	A	G	X: 7,482,307 (GRCm39)	D597G	probably damaging	Het
Capn12	T	C	7: 28,585,880 (GRCm39)		probably benign	Het
Ctnna2	A	T	6: 76,931,766 (GRCm39)	D624E	probably benign	Het
Dnah2	T	C	11: 69,337,118 (GRCm39)	E3274G	probably benign	Het
Dnah7b	A	T	1: 46,316,280 (GRCm39)	N3131I	probably damaging	Het
Focad	T	G	4: 88,192,327 (GRCm39)		probably benign	Het
Fyb2	G	A	4: 104,805,863 (GRCm39)		probably benign	Het
Htt	C	T	5: 34,987,104 (GRCm39)	P1108S	probably benign	Het
Ift80	A	T	3: 68,869,653 (GRCm39)		probably null	Het
Insc	T	C	7: 114,449,177 (GRCm39)	*533Q	probably null	Het
Itga2	A	G	13: 114,993,258 (GRCm39)	C786R	probably damaging	Het
Lman2	A	G	13: 55,499,282 (GRCm39)	W198R	possibly damaging	Het
Med23	A	G	10: 24,776,626 (GRCm39)	T713A	possibly damaging	Het
Mtus1	A	T	8: 41,536,156 (GRCm39)	M520K	probably benign	Het
Mvd	C	A	8: 123,163,894 (GRCm39)	G252V	probably benign	Het
Ncoa3	T	A	2: 165,894,737 (GRCm39)	V340E	probably damaging	Het
Necab1	A	G	4: 15,148,812 (GRCm39)		probably null	Het
Noxred1	T	C	12: 87,271,776 (GRCm39)	D131G	probably damaging	Het
P2ry4	C	A	X: 99,637,807 (GRCm39)	K30N	probably damaging	Het
Pcdhac2	T	A	18: 37,277,320 (GRCm39)	V100D	possibly damaging	Het
Piezo1	C	A	8: 123,225,283 (GRCm39)	R571L	probably benign	Het
Pkd1l2	C	T	8: 117,762,539 (GRCm39)		probably benign	Het
Plekhm2	T	C	4: 141,370,034 (GRCm39)	T32A	possibly damaging	Het
Rev3l	T	C	10: 39,697,342 (GRCm39)	V613A	possibly damaging	Het
Rp1	A	G	1: 4,422,613 (GRCm39)	S156P	probably benign	Het
Sema3f	A	T	9: 107,569,594 (GRCm39)	D48E	probably damaging	Het
Shisal1	A	G	15: 84,290,654 (GRCm39)	S218P	probably damaging	Het
Slc29a4	T	C	5: 142,705,854 (GRCm39)	V446A	probably benign	Het
Sppl3	C	T	5: 115,212,969 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,599,982 (GRCm39)	E19064G	probably damaging	Het
Vps35l	A	G	7: 118,374,598 (GRCm39)	Y342C	probably damaging	Het

Other mutations in Fam3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02037:Fam3a	APN	X	73,430,241 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16