Mutagenetix > Incidental Mutation

Incidental Mutation 'R7295:Alb'

566665

Institutional Source

Beutler Lab

Gene Symbol

Alb

Ensembl Gene

ENSMUSG00000029368

Gene Name

albumin

Synonyms

Alb-1, Alb1

MMRRC Submission

045363-MU

Accession Numbers

Essential gene?

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

Stock #

R7295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90608756-90624461 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 90610693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031314 (fasta)

Gene Model

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

AlphaFold

P07724

Predicted Effect

probably null
Transcript: ENSMUST00000031314

SMART Domains

Protein: ENSMUSP00000031314
Gene: ENSMUSG00000029368

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Acp7	A	T	7: 28,328,955 (GRCm39)	F75Y	possibly damaging	Het
Adamts19	T	A	18: 58,970,955 (GRCm39)	Y180N	probably damaging	Het
Adck1	G	T	12: 88,397,815 (GRCm39)	D150Y	probably damaging	Het
Baat	A	T	4: 49,490,275 (GRCm39)	Y270N	probably damaging	Het
Bmp7	A	T	2: 172,781,690 (GRCm39)	I58N	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
Cbfa2t3	T	G	8: 123,364,768 (GRCm39)	D338A	probably benign	Het
Ccnd2	A	T	6: 127,125,725 (GRCm39)	C104S	possibly damaging	Het
Clip1	G	T	5: 123,765,419 (GRCm39)	Q713K	probably benign	Het
Ddx28	G	A	8: 106,737,476 (GRCm39)	S194L	probably benign	Het
Dync1h1	T	C	12: 110,631,183 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,902 (GRCm39)	Y193*	probably null	Het
Eprs1	A	G	1: 185,150,407 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,967,589 (GRCm39)	I63R	probably damaging	Het
Fam171a2	T	C	11: 102,329,064 (GRCm39)	E565G	possibly damaging	Het
Fbn1	T	A	2: 125,177,407 (GRCm39)	D1810V	probably damaging	Het
Foxj2	T	C	6: 122,817,190 (GRCm39)	S506P	probably benign	Het
Frmpd1	A	G	4: 45,285,700 (GRCm39)	E1507G	probably damaging	Het
Gfm1	G	A	3: 67,347,514 (GRCm39)	V258I	probably benign	Het
Gphn	T	C	12: 78,538,876 (GRCm39)	V174A	probably benign	Het
Gtpbp3	C	A	8: 71,942,139 (GRCm39)	S123R	possibly damaging	Het
H2bc8	T	C	13: 23,755,943 (GRCm39)	S113P	probably benign	Het
Hbs1l	T	C	10: 21,186,051 (GRCm39)	V491A	probably benign	Het
Hoxc12	A	G	15: 102,846,810 (GRCm39)	N234S	probably damaging	Het
Il22b	A	T	10: 118,130,848 (GRCm39)	L16*	probably null	Het
Kcnj5	T	C	9: 32,234,087 (GRCm39)	D76G	probably damaging	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Lonp1	G	T	17: 56,929,495 (GRCm39)	Q181K	possibly damaging	Het
Mgst1	A	T	6: 138,124,754 (GRCm39)	I23F	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Myocos	T	C	1: 162,484,687 (GRCm39)	R41G	unknown	Het
Myod1	A	G	7: 46,027,643 (GRCm39)	D261G	probably benign	Het
Nop14	C	T	5: 34,796,376 (GRCm39)	R781Q	probably damaging	Het
Nsmaf	A	G	4: 6,438,083 (GRCm39)	V63A	probably benign	Het
Ntsr1	A	T	2: 180,142,725 (GRCm39)	H172L	probably damaging	Het
Or4k6	T	C	14: 50,476,073 (GRCm39)	K90E	probably damaging	Het
Or8b1c	A	T	9: 38,384,739 (GRCm39)	E232V	probably benign	Het
Pcdha11	T	C	18: 37,139,979 (GRCm39)	V536A	probably damaging	Het
Pcdha6	T	A	18: 37,101,189 (GRCm39)	N127K	probably damaging	Het
Prps1l1	T	A	12: 35,035,679 (GRCm39)	C265S	probably benign	Het
Prune2	A	G	19: 17,097,261 (GRCm39)	S922G	probably benign	Het
Qpctl	A	T	7: 18,883,055 (GRCm39)	M19K	probably benign	Het
Rad51	C	T	2: 118,964,599 (GRCm39)	T230I	possibly damaging	Het
Rad9b	A	G	5: 122,472,341 (GRCm39)	F246L	possibly damaging	Het
Rarb	A	T	14: 16,508,932 (GRCm38)		probably null	Het
Sdcbp2	T	C	2: 151,429,321 (GRCm39)	S214P	possibly damaging	Het
Slc22a1	T	A	17: 12,875,892 (GRCm39)	M441L	probably benign	Het
Slc35f1	G	A	10: 52,938,637 (GRCm39)	V190I	probably benign	Het
Spon1	A	T	7: 113,629,475 (GRCm39)	Q373L	possibly damaging	Het
Ssbp2	T	A	13: 91,842,122 (GRCm39)		probably null	Het
Sult1e1	T	A	5: 87,726,512 (GRCm39)	R201*	probably null	Het
Traj32	T	A	14: 54,423,606 (GRCm39)	L16Q		Het
Ttc16	T	C	2: 32,664,437 (GRCm39)	I67V	probably null	Het
Ttn	T	A	2: 76,556,899 (GRCm39)	K30035N	probably damaging	Het
Ttn	T	A	2: 76,776,473 (GRCm39)	Y1607F	unknown	Het
Usp16	G	A	16: 87,268,977 (GRCm39)	R290H	probably benign	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Xpnpep3	A	G	15: 81,298,735 (GRCm39)	H56R	probably damaging	Het
Zfp592	G	T	7: 80,674,070 (GRCm39)	D345Y	probably damaging	Het
Zfp931	A	T	2: 177,709,824 (GRCm39)	Y187*	probably null	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
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
R7651:Alb	UTSW	5	90,615,214 (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'- GCCACTTGCCTCATACTGAG -3'
(R):5'- CCTTTGGGAGAAGCCTATGTTT -3'

Sequencing Primer
(F):5'- CTCATACTGAGGTTTTTGTGTCTGC -3'
(R):5'- GGTATGCTCTTCCAAGGCAAC -3'

Posted On

2019-06-26