Mutagenetix > Incidental Mutation

Incidental Mutation 'R7651:Alb'

590824

Institutional Source

Beutler Lab

Gene Symbol

Alb

Ensembl Gene

ENSMUSG00000029368

Gene Name

albumin

Synonyms

Alb-1, Alb1

MMRRC Submission

045728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R7651 (G1)

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

90608756-90624461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 90615214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 242 (R242P)

Ref Sequence

ENSEMBL: ENSMUSP00000031314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031314]

AlphaFold

P07724

Predicted Effect

probably damaging
Transcript: ENSMUST00000031314
AA Change: R242P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031314
Gene: ENSMUSG00000029368
AA Change: R242P

Domain	Start	End	E-Value	Type
ALBUMIN	20	205	1.54e-84	SMART
ALBUMIN	212	397	3.43e-82	SMART
ALBUMIN	404	595	1.51e-83	SMART

Meta Mutation Damage Score

0.8571

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes albumin, an abundant plasma protein essential for maintaining oncotic pressure that functions as a carrier protein for various molecules such as steriods and fatty acids in blood. This gene is primarily expressed in liver where the encoded protein undergoes proteolytic processing before secretion into the plasma. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a TALEN-mediated deletion exhibit analbuminemia but appear healthy and grossly normal and breed normally. Mice heterozygotes for an ENU-induced point mutation have significantly reduced plasma albumin and calcium levels and significantly elevated alkaline phosphatase activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,188 (GRCm39)	V302G		Het
A230072I06Rik	T	C	8: 12,329,689 (GRCm39)	I48T	unknown	Het
Ada	T	A	2: 163,574,275 (GRCm39)	D127V	probably damaging	Het
Ankrd34c	T	C	9: 89,611,463 (GRCm39)	R293G	possibly damaging	Het
Ap2b1	T	C	11: 83,230,256 (GRCm39)		probably null	Het
Arhgef16	A	G	4: 154,375,524 (GRCm39)	S157P	probably damaging	Het
Atp2b1	C	T	10: 98,852,830 (GRCm39)	L1036F	probably damaging	Het
Ccdc27	A	T	4: 154,112,556 (GRCm39)	I573N	probably damaging	Het
Cep164	T	C	9: 45,685,150 (GRCm39)	E869G	probably benign	Het
Colq	A	T	14: 31,250,292 (GRCm39)	V381D	possibly damaging	Het
Drc1	A	G	5: 30,516,958 (GRCm39)	E519G	probably benign	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Epg5	C	T	18: 78,024,615 (GRCm39)	Q1157*	probably null	Het
Eqtn	T	C	4: 94,811,944 (GRCm39)	S150G	possibly damaging	Het
Fam110d	C	T	4: 133,978,959 (GRCm39)	R173H	probably damaging	Het
Fam216a	G	A	5: 122,505,445 (GRCm39)	H172Y	probably damaging	Het
Fbxw19	T	A	9: 109,323,714 (GRCm39)	D87V	probably damaging	Het
Fgr	A	T	4: 132,722,324 (GRCm39)	I198F	probably damaging	Het
Flnc	A	G	6: 29,444,049 (GRCm39)	D621G	probably benign	Het
Flt3	A	C	5: 147,291,732 (GRCm39)	Y573D	probably damaging	Het
Git2	A	T	5: 114,871,296 (GRCm39)	I603N	probably damaging	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gnb5	T	C	9: 75,250,853 (GRCm39)	F326L	probably damaging	Het
Grm8	A	T	6: 27,760,257 (GRCm39)	W358R	possibly damaging	Het
Hoxa3	A	G	6: 52,149,253 (GRCm39)	V126A	unknown	Het
Hras	T	C	7: 140,772,064 (GRCm39)	T144A	possibly damaging	Het
Hyal1	G	A	9: 107,455,569 (GRCm39)	R293H	probably damaging	Het
Ifnlr1	A	G	4: 135,417,919 (GRCm39)	S49G	possibly damaging	Het
Ighv8-11	C	A	12: 115,531,005 (GRCm39)	C41F	probably benign	Het
Jakmip1	A	G	5: 37,291,617 (GRCm39)	T689A	probably damaging	Het
Kcnb1	T	C	2: 167,030,281 (GRCm39)	H88R	probably damaging	Het
Kcnt2	T	A	1: 140,498,199 (GRCm39)	M892K	probably benign	Het
Lrba	C	A	3: 86,648,773 (GRCm39)	S2507*	probably null	Het
Mbp	C	T	18: 82,572,499 (GRCm39)	T65I	probably damaging	Het
Muc2	A	T	7: 141,290,750 (GRCm39)	Y12F		Het
Muc4	T	A	16: 32,576,949 (GRCm39)	S80T		Het
Muc5ac	A	G	7: 141,349,991 (GRCm39)	D579G	possibly damaging	Het
Muc5b	A	G	7: 141,417,760 (GRCm39)	T3569A	possibly damaging	Het
Myb	C	T	10: 21,032,273 (GRCm39)	R36H	probably damaging	Het
Myo6	T	C	9: 80,171,548 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,763,981 (GRCm39)	V22A	probably benign	Het
Orai3	A	G	7: 127,373,236 (GRCm39)	I246V	probably damaging	Het
Otog	A	G	7: 45,891,185 (GRCm39)	M68V	probably benign	Het
Pcdh20	T	A	14: 88,706,589 (GRCm39)	D237V	probably damaging	Het
Pcdhb18	T	C	18: 37,624,046 (GRCm39)	F459L	probably benign	Het
Pik3c2g	C	T	6: 139,599,070 (GRCm39)	T62M	possibly damaging	Het
Plaa	T	C	4: 94,470,876 (GRCm39)	Y420C	probably damaging	Het
Ppp1r9b	C	T	11: 94,892,768 (GRCm39)	A656V	probably benign	Het
Pramel39-ps	T	C	5: 94,451,236 (GRCm39)	T297A	probably benign	Het
Prg4	T	A	1: 150,330,696 (GRCm39)	E659V	unknown	Het
Prlhr	C	A	19: 60,455,583 (GRCm39)	A328S	probably benign	Het
Prlr	A	T	15: 10,328,464 (GRCm39)	D313V	probably benign	Het
Prune2	C	T	19: 17,097,772 (GRCm39)	T1092I	probably damaging	Het
Psme4	T	A	11: 30,787,334 (GRCm39)	L1043H	probably damaging	Het
Ptprr	T	C	10: 116,087,084 (GRCm39)	V521A	probably benign	Het
Rab44	A	T	17: 29,367,179 (GRCm39)	D703V	unknown	Het
Rpl9-ps1	A	T	11: 83,535,911 (GRCm39)	Y179*	probably null	Het
Scg3	T	A	9: 75,589,332 (GRCm39)	N107I	probably benign	Het
Sh3bgrl2	T	C	9: 83,430,525 (GRCm39)	V5A	possibly damaging	Het
Slc7a12	T	C	3: 14,546,509 (GRCm39)	V218A	probably benign	Het
Sorcs2	A	G	5: 36,185,322 (GRCm39)	L918P	probably damaging	Het
Sox1	C	A	8: 12,446,686 (GRCm39)	A109E	probably damaging	Het
Syne1	T	A	10: 5,155,074 (GRCm39)	M5622L	probably benign	Het
Syne1	A	T	10: 5,293,416 (GRCm39)	L1305Q	probably damaging	Het
Tacc2	A	T	7: 130,224,884 (GRCm39)	H523L	probably benign	Het
Tas1r2	A	T	4: 139,396,938 (GRCm39)	D788V	probably benign	Het
Tcl1b5	T	A	12: 105,142,694 (GRCm39)	D7E	possibly damaging	Het
Tesc	A	G	5: 118,194,666 (GRCm39)	D159G	possibly damaging	Het
Tm2d2	G	T	8: 25,507,316 (GRCm39)		probably benign	Het
Tnfrsf11a	T	A	1: 105,737,171 (GRCm39)	C93S	probably damaging	Het
Tnfsf4	T	C	1: 161,244,593 (GRCm39)	V94A	probably benign	Het
Trav13n-3	T	A	14: 53,574,964 (GRCm39)	Y69N	probably benign	Het
Utp20	T	C	10: 88,590,457 (GRCm39)	D2339G	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r114	G	T	17: 23,509,986 (GRCm39)	Y831*	probably null	Het
Vmn2r72	T	A	7: 85,401,146 (GRCm39)	N91I	probably damaging	Het
Zfp846	T	C	9: 20,499,808 (GRCm39)	S13P	possibly damaging	Het
Zfp934	G	T	13: 62,666,327 (GRCm39)	N116K	probably benign	Het

Other mutations in Alb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Alb	APN	5	90,619,932 (GRCm39)	missense	probably benign	0.00
IGL01508:Alb	APN	5	90,618,697 (GRCm39)	missense	probably benign	0.19
IGL01722:Alb	APN	5	90,618,698 (GRCm39)	critical splice donor site	probably null
IGL02103:Alb	APN	5	90,611,990 (GRCm39)	missense	probably benign	0.00
IGL02379:Alb	APN	5	90,613,738 (GRCm39)	missense	probably benign	0.00
IGL02531:Alb	APN	5	90,615,307 (GRCm39)	missense	probably damaging	1.00
IGL02704:Alb	APN	5	90,616,368 (GRCm39)	missense	possibly damaging	0.82
IGL02828:Alb	APN	5	90,615,247 (GRCm39)	missense	probably benign	0.17
IGL03248:Alb	APN	5	90,609,573 (GRCm39)	splice site	probably benign
Flavius	UTSW	5	90,615,214 (GRCm39)	missense	probably damaging	1.00
R0714:Alb	UTSW	5	90,610,665 (GRCm39)	missense	possibly damaging	0.81
R1418:Alb	UTSW	5	90,612,061 (GRCm39)	splice site	probably benign
R1708:Alb	UTSW	5	90,611,910 (GRCm39)	missense	possibly damaging	0.73
R2092:Alb	UTSW	5	90,611,842 (GRCm39)	frame shift	probably null
R4473:Alb	UTSW	5	90,611,912 (GRCm39)	missense	probably damaging	1.00
R4670:Alb	UTSW	5	90,610,665 (GRCm39)	missense	probably benign	0.00
R4758:Alb	UTSW	5	90,616,452 (GRCm39)	missense	probably benign	0.00
R5583:Alb	UTSW	5	90,616,452 (GRCm39)	missense	probably benign	0.00
R6384:Alb	UTSW	5	90,620,499 (GRCm39)	missense	possibly damaging	0.67
R7268:Alb	UTSW	5	90,610,575 (GRCm39)	missense	probably benign	0.15
R7295:Alb	UTSW	5	90,610,693 (GRCm39)	critical splice donor site	probably null
R7320:Alb	UTSW	5	90,612,846 (GRCm39)	critical splice donor site	probably null
R7337:Alb	UTSW	5	90,622,452 (GRCm39)	missense	probably damaging	1.00
R7505:Alb	UTSW	5	90,617,368 (GRCm39)	missense	probably damaging	1.00
R7575:Alb	UTSW	5	90,613,788 (GRCm39)	missense	probably damaging	1.00
R7652:Alb	UTSW	5	90,615,214 (GRCm39)	missense	probably damaging	1.00
R7654:Alb	UTSW	5	90,615,214 (GRCm39)	missense	probably damaging	1.00
R7669:Alb	UTSW	5	90,611,850 (GRCm39)	missense	possibly damaging	0.93
R7870:Alb	UTSW	5	90,620,488 (GRCm39)	missense	possibly damaging	0.96
R7879:Alb	UTSW	5	90,620,507 (GRCm39)	missense	probably benign	0.21
R7950:Alb	UTSW	5	90,620,323 (GRCm39)	missense	probably damaging	0.99
R7978:Alb	UTSW	5	90,619,932 (GRCm39)	missense	possibly damaging	0.77
R8077:Alb	UTSW	5	90,615,214 (GRCm39)	missense	probably damaging	1.00
R8078:Alb	UTSW	5	90,615,214 (GRCm39)	missense	probably damaging	1.00
R8316:Alb	UTSW	5	90,616,449 (GRCm39)	missense	probably benign	0.20
R8480:Alb	UTSW	5	90,610,630 (GRCm39)	missense	probably damaging	0.99
R8531:Alb	UTSW	5	90,611,873 (GRCm39)	missense	probably benign	0.00
R8714:Alb	UTSW	5	90,608,874 (GRCm39)	critical splice donor site	probably null
R8986:Alb	UTSW	5	90,615,225 (GRCm39)	missense	probably benign	0.00
R9368:Alb	UTSW	5	90,623,143 (GRCm39)	missense	probably benign
R9469:Alb	UTSW	5	90,610,659 (GRCm39)	missense	probably benign	0.26
R9498:Alb	UTSW	5	90,617,362 (GRCm39)	missense	probably damaging	1.00
R9647:Alb	UTSW	5	90,620,544 (GRCm39)	critical splice donor site	probably null
R9723:Alb	UTSW	5	90,611,962 (GRCm39)	missense	probably damaging	1.00
Z1177:Alb	UTSW	5	90,616,371 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCACCGCCATTCATTTAGTAG -3'
(R):5'- GTGTTCTCCGATGAAGCCAAAC -3'

Sequencing Primer
(F):5'- TGCCAGATTAGCATTACAAGAAC -3'
(R):5'- CACAGGCGCTCAACTGAG -3'

Posted On

2019-10-24