Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Alb'

717357

Institutional Source

Beutler Lab

Gene Symbol

Alb

Ensembl Gene

ENSMUSG00000029368

Gene Name

albumin

Synonyms

Alb-1, Alb1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90608756-90624461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90617362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 354 (F354L)

Ref Sequence

ENSEMBL: ENSMUSP00000031314 (fasta)

Gene Model

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

AlphaFold

P07724

Predicted Effect

probably damaging
Transcript: ENSMUST00000031314
AA Change: F354L

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

SMART Domains

Protein: ENSMUSP00000031314
Gene: ENSMUSG00000029368
AA Change: F354L

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,182,989 (GRCm39)	Y160H	probably damaging	Het
Abca17	T	C	17: 24,484,480 (GRCm39)	Y1594C	probably damaging	Het
Abca8a	T	C	11: 109,977,374 (GRCm39)	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,210,237 (GRCm39)	I138V	probably benign	Het
Adcy8	G	A	15: 64,792,045 (GRCm39)	L304F	possibly damaging	Het
Ampd3	T	A	7: 110,409,053 (GRCm39)	S688R	probably damaging	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Areg	T	G	5: 91,294,553 (GRCm39)	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,640,484 (GRCm39)	S1243G	probably benign	Het
B3glct	A	G	5: 149,673,894 (GRCm39)		probably null	Het
Casp7	T	A	19: 56,424,767 (GRCm39)	L162Q	probably damaging	Het
Cdh20	A	G	1: 109,976,635 (GRCm39)	N100S	probably benign	Het
Cdh22	G	T	2: 164,954,490 (GRCm39)	T677N	probably damaging	Het
Cmtm5	T	A	14: 55,174,205 (GRCm39)	S31T	probably benign	Het
Col6a3	T	A	1: 90,713,650 (GRCm39)	R2295*	probably null	Het
Cpa6	T	C	1: 10,479,546 (GRCm39)	N229S	possibly damaging	Het
Dagla	G	T	19: 10,232,218 (GRCm39)	Y489*	probably null	Het
Dnah7b	A	G	1: 46,253,564 (GRCm39)	K1823R	probably benign	Het
Dnah9	T	C	11: 65,739,199 (GRCm39)	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,658,278 (GRCm39)	E296D	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Esco2	T	C	14: 66,068,752 (GRCm39)	D186G	probably benign	Het
Foxj2	A	G	6: 122,819,792 (GRCm39)	D560G	probably damaging	Het
Frmd3	G	A	4: 74,038,055 (GRCm39)	M105I	probably benign	Het
Gria4	A	T	9: 4,503,560 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,150,167 (GRCm39)	S410P	probably benign	Het
Ifi204	T	C	1: 173,583,537 (GRCm39)	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,779,439 (GRCm39)	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,770,784 (GRCm39)	T1588A		Het
Myo9a	A	G	9: 59,734,466 (GRCm39)	S683G	probably damaging	Het
Ncam2	T	C	16: 81,309,887 (GRCm39)	I459T	probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,256,502 (GRCm39)	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,897,397 (GRCm39)	T920A	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or8k17	A	G	2: 86,066,838 (GRCm39)	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,406,941 (GRCm39)	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,398,516 (GRCm39)	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,606,890 (GRCm39)	R41*	probably null	Het
Pde1b	A	T	15: 103,435,489 (GRCm39)	D448V	probably benign	Het
Pex7	G	A	10: 19,762,859 (GRCm39)	R227*	probably null	Het
Pkp1	T	A	1: 135,817,820 (GRCm39)	Y105F	probably benign	Het
Plbd1	T	C	6: 136,589,244 (GRCm39)	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,649,004 (GRCm39)	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,263,291 (GRCm39)	T792S	unknown	Het
Rasgrf1	A	T	9: 89,826,921 (GRCm39)	T177S	probably benign	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rfx8	T	C	1: 39,724,674 (GRCm39)	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,575,412 (GRCm39)	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,704,233 (GRCm39)	S296T	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Srsf6	A	G	2: 162,774,009 (GRCm39)	E68G	probably benign	Het
Syt13	A	T	2: 92,781,749 (GRCm39)	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,647,553 (GRCm39)	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,048,681 (GRCm39)	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,273,924 (GRCm39)	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,097,127 (GRCm39)	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,299,403 (GRCm39)	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,463,233 (GRCm39)	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,402,244 (GRCm39)	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,404,812 (GRCm39)	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,584,997 (GRCm39)	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,125,770 (GRCm39)	Q234L	probably benign	Het
Zfp850	T	C	7: 27,689,275 (GRCm39)	K311R	possibly damaging	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
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
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'- TGAACGTGGGAAGAGTTCTC -3'
(R):5'- AGAACTTGCCTCCATCTCAAG -3'

Sequencing Primer
(F):5'- GAGTTCTCTCTGGGTCCCAC -3'
(R):5'- CGTCCTTATAGAAAGTGCCATCC -3'

Posted On

2022-07-18