Mutagenetix > Incidental Mutation

Incidental Mutation 'R7809:Afm'

601003

Institutional Source

Beutler Lab

Gene Symbol

Afm

Ensembl Gene

ENSMUSG00000029369

Gene Name

afamin

Synonyms

alpha albumin, Alf

MMRRC Submission

045864-MU

Accession Numbers

Essential gene?

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

Stock #

R7809 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90666808-90701403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90672675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 170 (N170S)

Ref Sequence

ENSEMBL: ENSMUSP00000108804 (fasta)

Gene Model

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

AlphaFold

O89020

Predicted Effect

probably damaging
Transcript: ENSMUST00000113179
AA Change: N170S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: N170S

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 damaging
Transcript: ENSMUST00000128740
AA Change: N170S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369
AA Change: N170S

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: 99.6%
20x: 98.8%

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
Acot13	G	A	13: 25,004,779 (GRCm39)	T62I	probably damaging	Het
Adam33	C	G	2: 130,893,266 (GRCm39)	R779P	probably benign	Het
Adgrv1	G	A	13: 81,676,760 (GRCm39)	P2024S	possibly damaging	Het
Ambn	G	A	5: 88,615,683 (GRCm39)	V371I	probably benign	Het
Apbb1	G	A	7: 105,223,014 (GRCm39)	P199L	probably benign	Het
Axdnd1	A	T	1: 156,220,371 (GRCm39)	C118*	probably null	Het
Carf	G	T	1: 60,183,226 (GRCm39)	V443L	probably damaging	Het
Cfap251	A	G	5: 123,402,894 (GRCm39)	D459G	probably damaging	Het
Ckap5	G	A	2: 91,436,702 (GRCm39)	A1601T	probably benign	Het
Cnot1	A	T	8: 96,478,406 (GRCm39)	I973N	probably damaging	Het
Col11a1	A	G	3: 113,890,835 (GRCm39)	T391A	unknown	Het
Cracr2a	A	T	6: 127,626,925 (GRCm39)	M569L	probably benign	Het
Cspg4	T	C	9: 56,797,474 (GRCm39)	F1313L	probably damaging	Het
Cstdc2	A	G	2: 148,688,910 (GRCm39)	S110P	probably damaging	Het
Cttnbp2	C	A	6: 18,434,289 (GRCm39)	R523L	probably damaging	Het
Cxadr	T	C	16: 78,130,407 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,995,462 (GRCm39)	M962K	probably benign	Het
Dnm1	T	C	2: 32,243,091 (GRCm39)	K44R	probably damaging	Het
Fat3	T	C	9: 15,917,924 (GRCm39)	S1500G	probably damaging	Het
Gad1	T	C	2: 70,427,603 (GRCm39)	F503S	possibly damaging	Het
Garin3	A	G	11: 46,298,631 (GRCm39)	E645G		Het
Gm20730	T	C	6: 43,058,989 (GRCm39)	I15V	probably benign	Het
Gmppb	T	G	9: 107,928,654 (GRCm39)	*361G	probably null	Het
Inpp5f	T	C	7: 128,269,367 (GRCm39)	V239A	probably damaging	Het
Irf4	A	T	13: 30,941,415 (GRCm39)	Y257F	probably benign	Het
Kcnma1	T	C	14: 23,423,324 (GRCm39)	D793G	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Lrriq1	T	C	10: 103,051,678 (GRCm39)	K358R	probably damaging	Het
Mcpt4	T	A	14: 56,298,141 (GRCm39)	I137F	possibly damaging	Het
Muc6	T	A	7: 141,226,638 (GRCm39)	H1358L	probably benign	Het
Mug1	A	T	6: 121,855,944 (GRCm39)	M979L	possibly damaging	Het
Mvb12a	C	A	8: 71,998,306 (GRCm39)	P175T	probably benign	Het
Myh13	A	G	11: 67,241,167 (GRCm39)	E848G	probably benign	Het
Or4c105	A	T	2: 88,647,902 (GRCm39)	H129L	probably damaging	Het
Oxnad1	T	C	14: 31,822,962 (GRCm39)	V231A	probably benign	Het
Pcdhac1	A	G	18: 37,224,009 (GRCm39)	N274S	possibly damaging	Het
Plxnc1	T	A	10: 94,630,302 (GRCm39)	K1532N	probably damaging	Het
Polr3e	A	G	7: 120,523,449 (GRCm39)	D14G	probably damaging	Het
Prex1	A	G	2: 166,415,164 (GRCm39)	F1432S	possibly damaging	Het
Prlhr	A	G	19: 60,456,293 (GRCm39)	L91P	probably damaging	Het
Prom1	C	T	5: 44,178,209 (GRCm39)	V508I	probably benign	Het
Rmnd1	T	C	10: 4,357,848 (GRCm39)	Y387C	probably damaging	Het
Sall3	T	A	18: 81,017,575 (GRCm39)	T118S	probably benign	Het
Sf3b1	A	T	1: 55,034,614 (GRCm39)	D1015E	possibly damaging	Het
Sfmbt2	A	G	2: 10,398,155 (GRCm39)	N12S	probably benign	Het
Sohlh1	A	C	2: 25,735,289 (GRCm39)	S198A	probably benign	Het
Sorbs2	T	C	8: 46,198,465 (GRCm39)	S38P	possibly damaging	Het
Spata21	G	A	4: 140,831,354 (GRCm39)	A434T	probably null	Het
Stard13	T	A	5: 151,113,489 (GRCm39)	Q24L	probably damaging	Het
Syne2	G	T	12: 76,014,230 (GRCm39)	M3140I	probably benign	Het
Tango6	T	C	8: 107,415,926 (GRCm39)		probably null	Het
Tdrd9	G	A	12: 111,999,155 (GRCm39)	G757R	probably damaging	Het
Thada	A	C	17: 84,759,265 (GRCm39)	V198G	possibly damaging	Het
Tmf1	T	C	6: 97,138,420 (GRCm39)	N833D	probably damaging	Het
Trav7-3	T	C	14: 53,681,072 (GRCm39)	M38T	probably benign	Het
Ttc38	A	C	15: 85,722,939 (GRCm39)	Q129P	possibly damaging	Het
Uox	A	T	3: 146,333,613 (GRCm39)	K271*	probably null	Het
Urgcp	A	T	11: 5,673,133 (GRCm39)	D47E	probably benign	Het
Usp17lb	A	G	7: 104,490,420 (GRCm39)	I169T	probably damaging	Het
Wdr75	T	C	1: 45,862,596 (GRCm39)	I805T	probably benign	Het
Zfp131	A	G	13: 120,250,446 (GRCm39)	F59S	probably damaging	Het
Zfp383	G	A	7: 29,609,661 (GRCm39)	A21T	possibly damaging	Het
Zfp810	T	C	9: 22,190,278 (GRCm39)	Y210C	possibly damaging	Het
Zfp871	A	G	17: 32,993,826 (GRCm39)	C450R	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
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
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'- CCCATGCCATCCTTAATTTGGAG -3'
(R):5'- ATCCAGAACCCATGGCATAG -3'

Sequencing Primer
(F):5'- GAAATGACCGGTTCAGCTTC -3'
(R):5'- ATGGCATAGGGCGATTCCTCATC -3'

Posted On

2019-11-26