Mutagenetix > Incidental Mutation

Incidental Mutation 'R2979:Afm'

257037

Institutional Source

Beutler Lab

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 #

R2979 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90666808-90701403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90670022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 48 (I48V)

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: I48V

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: I48V

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: I48V

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369
AA Change: I48V

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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
Arhgef1	A	G	7: 24,607,176 (GRCm39)	E16G	unknown	Het
Cps1	T	C	1: 67,243,863 (GRCm39)		probably null	Het
Dnah9	T	C	11: 66,008,414 (GRCm39)	K804E	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gm18025	G	T	12: 34,340,970 (GRCm39)	P41Q	probably damaging	Het
Kdm4c	A	T	4: 74,291,965 (GRCm39)	R861*	probably null	Het
Klhl2	C	T	8: 65,275,730 (GRCm39)	V58I	probably damaging	Het
Msl1	G	A	11: 98,691,050 (GRCm39)	G178E	possibly damaging	Het
Nacad	T	A	11: 6,551,424 (GRCm39)	Q589L	probably benign	Het
Pros1	A	G	16: 62,734,229 (GRCm39)	D345G	probably damaging	Het
Sh3tc2	A	G	18: 62,122,556 (GRCm39)	Y439C	probably damaging	Het
Smarcad1	T	A	6: 65,051,995 (GRCm39)	M376K	probably benign	Het
Srd5a1	T	C	13: 69,748,418 (GRCm39)	Q127R	probably damaging	Het
Synm	T	G	7: 67,386,008 (GRCm39)	R551S	probably damaging	Het
Trmt1	A	G	8: 85,423,511 (GRCm39)	Y301C	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Txnl1	T	C	18: 63,804,691 (GRCm39)	T268A	probably benign	Het
Zbbx	C	A	3: 74,985,793 (GRCm39)	E420*	probably null	Het
Zc3h7a	A	T	16: 10,976,837 (GRCm39)	V153E	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACGACATACCTGTGAGTTGTTC -3'
(R):5'- AGAGCACCATTCTTAGACCTTG -3'

Sequencing Primer
(F):5'- CTGGATTCCCTTTGATGATAACAC -3'
(R):5'- GACCTTGTTCAGATGAGACTCAC -3'

Posted On

2015-01-11