Mutagenetix > Incidental Mutation

Incidental Mutation 'R7897:Afm'

609745

Institutional Source

Beutler Lab

Gene Symbol

Afm

Ensembl Gene

ENSMUSG00000029369

Gene Name

afamin

Synonyms

alpha albumin, Alf

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90518932-90553543 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90547868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 411 (M411I)

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: M411I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: M411I

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: M411I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369
AA Change: M411I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080E11Rik	A	C	9: 105,144,510	Y112*	probably null	Het
Abcb11	TGTTGATCCATA	T	2: 69,323,872		probably null	Het
Abcb11	GTTGATCCATACA	G	2: 69,323,873		probably benign	Het
Abcc10	T	C	17: 46,324,073	T335A	probably benign	Het
Actr3b	T	C	5: 25,831,659	Y245H	probably benign	Het
Ahr	T	C	12: 35,504,170	N650S	possibly damaging	Het
Ap5m1	A	G	14: 49,073,775	R101G	probably benign	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 135,745,704		probably benign	Het
Atp13a4	T	C	16: 29,396,466	Q1151R		Het
Bcl9	A	G	3: 97,205,251	V1296A	possibly damaging	Het
Bsn	A	C	9: 108,111,866	M2229R	probably damaging	Het
Cfap74	T	C	4: 155,429,894	V529A		Het
Clip1	C	T	5: 123,622,798	V767M	probably benign	Het
Col6a5	A	G	9: 105,889,183	I1846T	possibly damaging	Het
Crisp1	A	T	17: 40,307,765	D68E	probably benign	Het
Csmd1	A	T	8: 17,534,919	L19Q	possibly damaging	Het
Cul7	T	C	17: 46,658,005	I892T	probably benign	Het
Elavl3	G	A	9: 22,018,550	R353C	probably damaging	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fbxo3	A	G	2: 104,053,412	D327G	possibly damaging	Het
Galr1	T	C	18: 82,406,131	N7S	probably benign	Het
Glyatl3	T	C	17: 40,904,911	T235A	probably damaging	Het
Gm11639	A	T	11: 104,998,235	Y4159F	probably benign	Het
Gm5145	A	C	17: 20,570,705	Q115P	probably benign	Het
Grm5	T	C	7: 88,130,861	S1202P	probably benign	Het
Itsn1	G	A	16: 91,818,558	R397H	unknown	Het
Jmjd1c	A	G	10: 67,239,865	N1837S	probably damaging	Het
Jph3	A	T	8: 121,789,397		probably null	Het
Kcna6	A	G	6: 126,738,798	L376P	probably damaging	Het
Kcne3	C	G	7: 100,184,313	R46G	probably benign	Het
Kcnq2	T	C	2: 181,081,141	D842G	probably damaging	Het
Klhl12	A	T	1: 134,458,481	I4F	probably benign	Het
Kpna1	T	A	16: 36,033,865	I525N	probably benign	Het
Krtap31-1	T	C	11: 99,908,123	C51R	possibly damaging	Het
Ms4a12	C	T	19: 11,230,359	G61D	possibly damaging	Het
Nol4	T	C	18: 22,823,343	N115D		Het
Pcdh15	A	G	10: 74,453,995	Y882C	probably damaging	Het
Pde8b	T	A	13: 95,107,694	H79L	probably benign	Het
Pdia2	T	C	17: 26,198,233	E79G	probably benign	Het
Pgap1	A	T	1: 54,551,008	F90L	probably damaging	Het
Pik3cd	T	A	4: 149,657,269	T407S	probably benign	Het
Pkd1l2	G	T	8: 116,998,088	F2361L	possibly damaging	Het
Pla2g12b	A	T	10: 59,410,994	R77*	probably null	Het
Ppfia2	A	G	10: 106,819,538	Y322C	probably damaging	Het
Psg23	T	C	7: 18,607,183	Q382R	possibly damaging	Het
Ptprq	A	G	10: 107,710,623	V270A	probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Robo2	T	C	16: 73,898,950	E1431G	probably benign	Het
Sdk2	A	G	11: 113,873,201	I253T	possibly damaging	Het
Sox9	A	C	11: 112,784,809	I275L	probably benign	Het
Tlr4	A	G	4: 66,839,821	I284V	probably benign	Het
Unc13b	A	G	4: 43,171,860	D896G	unknown	Het
Usp48	A	T	4: 137,644,428	H955L	probably damaging	Het
Vps54	T	C	11: 21,263,307	I30T	probably benign	Het
Zfp106	G	A	2: 120,535,615	R59*	probably null	Het
Zmym4	A	T	4: 126,889,539	D1169E	possibly damaging	Het
Zscan2	T	A	7: 80,875,700	Y390N	probably damaging	Het

Other mutations in Afm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Afm	APN	5	90525591	missense	probably benign	0.01
IGL01140:Afm	APN	5	90524867	missense	probably damaging	1.00
IGL01789:Afm	APN	5	90525584	missense	probably benign	0.32
IGL01819:Afm	APN	5	90524906	missense	probably benign	0.01
IGL01826:Afm	APN	5	90524928	splice site	probably benign
IGL01875:Afm	APN	5	90548883	utr 3 prime	probably benign
IGL02337:Afm	APN	5	90547911	missense	probably benign
IGL02902:Afm	APN	5	90526363	missense	possibly damaging	0.58
IGL02950:Afm	APN	5	90531607	missense	probably damaging	1.00
R0009:Afm	UTSW	5	90545384	splice site	probably benign
R0009:Afm	UTSW	5	90545384	splice site	probably benign
R0135:Afm	UTSW	5	90550322	missense	probably benign	0.00
R0582:Afm	UTSW	5	90524780	splice site	probably benign
R1416:Afm	UTSW	5	90526379	missense	possibly damaging	0.74
R1465:Afm	UTSW	5	90550341	missense	probably damaging	1.00
R1465:Afm	UTSW	5	90550341	missense	probably damaging	1.00
R1834:Afm	UTSW	5	90526424	missense	probably benign	0.01
R1919:Afm	UTSW	5	90524920	nonsense	probably null
R2071:Afm	UTSW	5	90523735	missense	probably benign	0.17
R2843:Afm	UTSW	5	90526465	nonsense	probably null
R2979:Afm	UTSW	5	90522163	missense	probably benign	0.19
R4853:Afm	UTSW	5	90551467	missense	probably damaging	1.00
R5400:Afm	UTSW	5	90551398	missense	possibly damaging	0.86
R5551:Afm	UTSW	5	90531652	missense	probably null	0.97
R5583:Afm	UTSW	5	90547881	missense	probably damaging	1.00
R5780:Afm	UTSW	5	90551431	missense	possibly damaging	0.87
R7378:Afm	UTSW	5	90551400	missense	probably benign	0.00
R7470:Afm	UTSW	5	90531627	missense	probably damaging	0.99
R7785:Afm	UTSW	5	90550173	missense	possibly damaging	0.93
R7799:Afm	UTSW	5	90523854	missense	probably benign	0.00
R7809:Afm	UTSW	5	90524816	missense	probably damaging	1.00
R8236:Afm	UTSW	5	90523888	missense	probably damaging	1.00
R8497:Afm	UTSW	5	90551343	critical splice acceptor site	probably null
R8752:Afm	UTSW	5	90552565	missense	probably benign	0.00
R8949:Afm	UTSW	5	90531515	nonsense	probably null
R8971:Afm	UTSW	5	90548816	missense	probably damaging	0.99
R9013:Afm	UTSW	5	90523735	missense	probably damaging	0.99
R9067:Afm	UTSW	5	90523815	missense	probably benign	0.01
R9082:Afm	UTSW	5	90550236	missense	probably damaging	1.00
R9335:Afm	UTSW	5	90550227	missense	probably damaging	1.00
X0022:Afm	UTSW	5	90545414	missense	probably damaging	1.00
Z1177:Afm	UTSW	5	90521946	missense	probably benign	0.05
Z1177:Afm	UTSW	5	90531506	missense	probably benign	0.07
Z1177:Afm	UTSW	5	90531616	missense	probably damaging	1.00
Z1177:Afm	UTSW	5	90551383	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ATAAGCTACTGTGGTTCTCATCTG -3'
(R):5'- AGAAGGCTCAGTGGGAATTC -3'

Sequencing Primer
(F):5'- TCTGTGGATGAATAAGAGCGC -3'
(R):5'- AAGGCTCAGTGGGAATTCTTGAC -3'

Posted On

2019-12-20