Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01789:Afm'

155160

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: 0.052) question?

Stock #

IGL01789

Quality Score

Status

Chromosome

Chromosomal Location

90666808-90701403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90673443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 232 (P232S)

Ref Sequence

ENSEMBL: ENSMUSP00000108804 (fasta)

Gene Model

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

AlphaFold

O89020

Predicted Effect

probably benign
Transcript: ENSMUST00000113179
AA Change: P232S

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: P232S

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
AA Change: P232S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369
AA Change: P232S

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11b	A	T	3: 35,843,741 (GRCm39)	Q81L	possibly damaging	Het
Cgn	G	A	3: 94,683,528 (GRCm39)	P413S	possibly damaging	Het
Eps8	C	T	6: 137,516,364 (GRCm39)	M5I	probably benign	Het
Fam83h	A	T	15: 75,877,969 (GRCm39)	M143K	probably damaging	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Hmcn1	C	T	1: 150,566,352 (GRCm39)	C2217Y	probably damaging	Het
Leo1	T	C	9: 75,361,896 (GRCm39)		probably benign	Het
Lipm	A	G	19: 34,096,147 (GRCm39)	D321G	probably damaging	Het
Nos2	C	T	11: 78,835,483 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,999,372 (GRCm39)	Y257C	probably benign	Het
Rnpep	T	C	1: 135,195,833 (GRCm39)	K359E	possibly damaging	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tas2r130	T	A	6: 131,607,118 (GRCm39)	S226C	probably damaging	Het
Tpbg	A	T	9: 85,726,954 (GRCm39)	M308L	probably benign	Het
Trip11	G	A	12: 101,838,090 (GRCm39)	S1715L	probably benign	Het
Unc13b	T	A	4: 43,239,462 (GRCm39)	N3508K	probably damaging	Het
Utp20	A	T	10: 88,634,141 (GRCm39)		probably null	Het
Wdhd1	A	T	14: 47,512,274 (GRCm39)	M39K	probably benign	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
IGL01819:Afm	APN	5	90,672,765 (GRCm39)	missense	probably benign	0.01
IGL01826:Afm	APN	5	90,672,787 (GRCm39)	splice site	probably benign
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