Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01826:Afm'

154681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Afm

Ensembl Gene

ENSMUSG00000029369

Gene Name

afamin

Synonyms

alpha albumin, Alf

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL01826

Quality Score

Status

Chromosome

Chromosomal Location

90666808-90701403 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 90672787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113179] [ENSMUST00000128740]

AlphaFold

O89020

Predicted Effect

probably benign
Transcript: ENSMUST00000113179

SMART Domains

Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369

Domain	Start	End	E-Value	Type
ALBUMIN	20	205	3.69e-55	SMART
ALBUMIN	212	397	6.42e-64	SMART
ALBUMIN	404	593	3.07e-61	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128740

SMART Domains

Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369

Domain	Start	End	E-Value	Type
ALBUMIN	20	205	3.69e-55	SMART
ALBUMIN	212	397	6.42e-64	SMART

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 is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	A	7: 45,774,273 (GRCm39)	D769V	probably benign	Het
Ago3	A	G	4: 126,297,075 (GRCm39)	S181P	probably damaging	Het
Brme1	T	C	8: 84,893,301 (GRCm39)	V156A	probably benign	Het
Ccm2l	C	A	2: 152,909,853 (GRCm39)		probably benign	Het
Clhc1	A	G	11: 29,503,765 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,722 (GRCm39)	I90V	probably benign	Het
Fsip2	T	G	2: 82,812,983 (GRCm39)	S3101A	probably benign	Het
Gpsm1	C	A	2: 26,216,314 (GRCm39)	H384N	probably damaging	Het
Itgal	A	G	7: 126,901,318 (GRCm39)	I235V	probably benign	Het
Lrp1b	C	A	2: 41,339,246 (GRCm39)	G752C	probably damaging	Het
Ltbp1	A	G	17: 75,599,835 (GRCm39)	D659G	possibly damaging	Het
Odad1	T	A	7: 45,597,810 (GRCm39)	S573R	possibly damaging	Het
Plb1	A	C	5: 32,438,489 (GRCm39)	D208A	probably damaging	Het
Plce1	T	A	19: 38,727,682 (GRCm39)		probably benign	Het
Stim1	A	G	7: 102,076,282 (GRCm39)		probably benign	Het
Sult4a1	A	T	15: 83,974,247 (GRCm39)	S141T	probably damaging	Het
Tas2r119	A	T	15: 32,177,548 (GRCm39)	K38M	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Zfp451	G	A	1: 33,821,243 (GRCm39)	T203M	probably damaging	Het

Other mutations in Afm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Afm	APN	5	90,673,450 (GRCm39)	missense	probably benign	0.01
IGL01140:Afm	APN	5	90,672,726 (GRCm39)	missense	probably damaging	1.00
IGL01789:Afm	APN	5	90,673,443 (GRCm39)	missense	probably benign	0.32
IGL01819:Afm	APN	5	90,672,765 (GRCm39)	missense	probably benign	0.01
IGL01875:Afm	APN	5	90,696,742 (GRCm39)	utr 3 prime	probably benign
IGL02337:Afm	APN	5	90,695,770 (GRCm39)	missense	probably benign
IGL02902:Afm	APN	5	90,674,222 (GRCm39)	missense	possibly damaging	0.58
IGL02950:Afm	APN	5	90,679,466 (GRCm39)	missense	probably damaging	1.00
R0009:Afm	UTSW	5	90,693,243 (GRCm39)	splice site	probably benign
R0009:Afm	UTSW	5	90,693,243 (GRCm39)	splice site	probably benign
R0135:Afm	UTSW	5	90,698,181 (GRCm39)	missense	probably benign	0.00
R0582:Afm	UTSW	5	90,672,639 (GRCm39)	splice site	probably benign
R1416:Afm	UTSW	5	90,674,238 (GRCm39)	missense	possibly damaging	0.74
R1465:Afm	UTSW	5	90,698,200 (GRCm39)	missense	probably damaging	1.00
R1465:Afm	UTSW	5	90,698,200 (GRCm39)	missense	probably damaging	1.00
R1834:Afm	UTSW	5	90,674,283 (GRCm39)	missense	probably benign	0.01
R1919:Afm	UTSW	5	90,672,779 (GRCm39)	nonsense	probably null
R2071:Afm	UTSW	5	90,671,594 (GRCm39)	missense	probably benign	0.17
R2843:Afm	UTSW	5	90,674,324 (GRCm39)	nonsense	probably null
R2979:Afm	UTSW	5	90,670,022 (GRCm39)	missense	probably benign	0.19
R4853:Afm	UTSW	5	90,699,326 (GRCm39)	missense	probably damaging	1.00
R5400:Afm	UTSW	5	90,699,257 (GRCm39)	missense	possibly damaging	0.86
R5551:Afm	UTSW	5	90,679,511 (GRCm39)	missense	probably null	0.97
R5583:Afm	UTSW	5	90,695,740 (GRCm39)	missense	probably damaging	1.00
R5780:Afm	UTSW	5	90,699,290 (GRCm39)	missense	possibly damaging	0.87
R7378:Afm	UTSW	5	90,699,259 (GRCm39)	missense	probably benign	0.00
R7470:Afm	UTSW	5	90,679,486 (GRCm39)	missense	probably damaging	0.99
R7785:Afm	UTSW	5	90,698,032 (GRCm39)	missense	possibly damaging	0.93
R7799:Afm	UTSW	5	90,671,713 (GRCm39)	missense	probably benign	0.00
R7809:Afm	UTSW	5	90,672,675 (GRCm39)	missense	probably damaging	1.00
R7897:Afm	UTSW	5	90,695,727 (GRCm39)	missense	probably benign	0.00
R8236:Afm	UTSW	5	90,671,747 (GRCm39)	missense	probably damaging	1.00
R8497:Afm	UTSW	5	90,699,202 (GRCm39)	critical splice acceptor site	probably null
R8752:Afm	UTSW	5	90,700,424 (GRCm39)	missense	probably benign	0.00
R8949:Afm	UTSW	5	90,679,374 (GRCm39)	nonsense	probably null
R8971:Afm	UTSW	5	90,696,675 (GRCm39)	missense	probably damaging	0.99
R9013:Afm	UTSW	5	90,671,594 (GRCm39)	missense	probably damaging	0.99
R9067:Afm	UTSW	5	90,671,674 (GRCm39)	missense	probably benign	0.01
R9082:Afm	UTSW	5	90,698,095 (GRCm39)	missense	probably damaging	1.00
R9335:Afm	UTSW	5	90,698,086 (GRCm39)	missense	probably damaging	1.00
X0022:Afm	UTSW	5	90,693,273 (GRCm39)	missense	probably damaging	1.00
Z1177:Afm	UTSW	5	90,679,475 (GRCm39)	missense	probably damaging	1.00
Z1177:Afm	UTSW	5	90,679,365 (GRCm39)	missense	probably benign	0.07
Z1177:Afm	UTSW	5	90,669,805 (GRCm39)	missense	probably benign	0.05
Z1177:Afm	UTSW	5	90,699,242 (GRCm39)	missense	possibly damaging	0.87

Posted On

2014-02-04