Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02902:Afm'

363667

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 #

IGL02902

Quality Score

Status

Chromosome

Chromosomal Location

90666808-90701403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90674222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 245 (K245E)

Ref Sequence

ENSEMBL: ENSMUSP00000117180 (fasta)

Gene Model

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

AlphaFold

O89020

Predicted Effect

probably benign
Transcript: ENSMUST00000113179
AA Change: K245E

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: K245E

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

possibly damaging
Transcript: ENSMUST00000128740
AA Change: K245E

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369
AA Change: K245E

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	G	T	1: 85,974,087 (GRCm39)	V135F	possibly damaging	Het
Aatk	T	C	11: 119,902,603 (GRCm39)	T541A	probably benign	Het
Abcc1	T	C	16: 14,240,991 (GRCm39)	L516P	probably damaging	Het
Actl6a	T	A	3: 32,776,791 (GRCm39)	V350E	possibly damaging	Het
Agr3	T	C	12: 35,996,915 (GRCm39)	V63A	probably damaging	Het
Arhgef28	A	T	13: 98,083,383 (GRCm39)	M1162K	probably damaging	Het
Casq2	T	A	3: 101,994,113 (GRCm39)	C53*	probably null	Het
Ccdc181	T	C	1: 164,107,470 (GRCm39)	V51A	probably benign	Het
Cd101	A	G	3: 100,926,310 (GRCm39)		probably benign	Het
Csdc2	T	C	15: 81,832,801 (GRCm39)	V69A	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Dnph1	A	G	17: 46,809,427 (GRCm39)		probably benign	Het
Egf	T	C	3: 129,474,796 (GRCm39)	T1124A	probably benign	Het
Gpr45	A	G	1: 43,072,371 (GRCm39)	E338G	possibly damaging	Het
Grb14	A	C	2: 64,768,762 (GRCm39)	L98R	probably damaging	Het
Gucy1a1	T	C	3: 82,026,224 (GRCm39)	S77G	possibly damaging	Het
Helb	A	G	10: 119,925,390 (GRCm39)	S996P	probably benign	Het
Huwe1	A	G	X: 150,669,762 (GRCm39)	E1405G	probably damaging	Het
Ifi47	T	C	11: 48,986,617 (GRCm39)	I128T	probably benign	Het
Ift140	T	A	17: 25,309,736 (GRCm39)	Y1089N	probably damaging	Het
Ift56	A	C	6: 38,402,097 (GRCm39)	S530R	probably benign	Het
Il1r1	A	T	1: 40,341,569 (GRCm39)	H324L	probably benign	Het
Irx1	C	T	13: 72,107,974 (GRCm39)	R236H	probably benign	Het
Itpr3	T	C	17: 27,323,530 (GRCm39)	V1185A	probably benign	Het
Kif19a	T	C	11: 114,676,396 (GRCm39)	V450A	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,446 (GRCm39)	Y65*	probably null	Het
Ltn1	A	T	16: 87,176,693 (GRCm39)	N1704K	possibly damaging	Het
Med1	T	C	11: 98,047,335 (GRCm39)		probably benign	Het
Meis2	T	A	2: 115,893,804 (GRCm39)	H36L	probably damaging	Het
Mier2	T	C	10: 79,385,456 (GRCm39)	N124S	probably damaging	Het
Mmp20	A	G	9: 7,654,171 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,569,212 (GRCm39)	T91A	possibly damaging	Het
Myo3b	T	A	2: 70,119,745 (GRCm39)	V935E	probably benign	Het
Ndufa7	T	C	17: 34,048,632 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,825,405 (GRCm39)	E366G	possibly damaging	Het
Nobox	A	T	6: 43,282,617 (GRCm39)	N263K	probably benign	Het
Notch2	A	G	3: 98,018,890 (GRCm39)	D684G	probably damaging	Het
Odr4	C	A	1: 150,260,179 (GRCm39)		probably null	Het
Or2t1	A	G	14: 14,328,789 (GRCm38)	H226R	probably benign	Het
Or4c12b	T	A	2: 89,647,508 (GRCm39)	Y273*	probably null	Het
Or5p69	C	A	7: 107,967,336 (GRCm39)	T213K	probably damaging	Het
Or5w13	T	C	2: 87,523,344 (GRCm39)	N294S	probably damaging	Het
Or6aa1	T	C	7: 86,043,743 (GRCm39)		probably benign	Het
Plau	A	C	14: 20,889,965 (GRCm39)	D270A	possibly damaging	Het
Pof1b	T	C	X: 111,558,809 (GRCm39)		probably null	Het
Pramel23	A	G	4: 143,424,913 (GRCm39)	C177R	probably damaging	Het
Prtn3	A	T	10: 79,717,767 (GRCm39)		probably null	Het
Ptges3	T	A	10: 127,904,616 (GRCm39)	D26E	probably benign	Het
Pxmp2	T	C	5: 110,429,160 (GRCm39)	E99G	probably benign	Het
Rasgef1a	A	G	6: 118,060,068 (GRCm39)	R106G	probably benign	Het
Rnf208	T	C	2: 25,133,774 (GRCm39)	V156A	probably benign	Het
Rps6ka1	A	T	4: 133,599,292 (GRCm39)	I45N	possibly damaging	Het
Rps6ka4	C	T	19: 6,809,623 (GRCm39)		probably null	Het
Rsbn1	G	T	3: 103,860,972 (GRCm39)	C466F	possibly damaging	Het
Shkbp1	A	T	7: 27,042,141 (GRCm39)	C605S	probably damaging	Het
Slc2a10	G	A	2: 165,360,142 (GRCm39)	D531N	probably benign	Het
Sox13	A	G	1: 133,317,204 (GRCm39)	L143P	probably damaging	Het
Stx2	C	T	5: 129,069,285 (GRCm39)	R142Q	probably damaging	Het
Tanc1	T	A	2: 59,623,431 (GRCm39)		probably benign	Het
Tubgcp5	C	T	7: 55,456,355 (GRCm39)	Q316*	probably null	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unc5d	G	A	8: 29,365,634 (GRCm39)	T117I	probably damaging	Het
Vmn2r4	T	C	3: 64,314,337 (GRCm39)	I126V	probably benign	Het
Zfp410	T	A	12: 84,378,594 (GRCm39)		probably null	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
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

2015-12-18