Mutagenetix > Incidental Mutations

Incidental Mutation 'R7950:Alb'

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649499

Institutional Source

Beutler Lab

Gene Symbol

Alb

Ensembl Gene

ENSMUSG00000029368

Gene Name

albumin

Synonyms

Alb1, Alb-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R7950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90460897-90476602 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90472464 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 478 (S478P)

Ref Sequence

ENSEMBL: ENSMUSP00000031314 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031314
AA Change: S478P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031314
Gene: ENSMUSG00000029368
AA Change: S478P

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	C	T	10: 77,979,767	T31I	probably damaging	Het
Adgrf5	G	A	17: 43,451,157	V1248M	probably damaging	Het
Arhgap17	A	G	7: 123,286,816	S698P	probably benign	Het
Arhgef5	A	G	6: 43,273,925	T537A	possibly damaging	Het
Arl6	A	T	16: 59,618,731		probably null	Het
Atp13a4	A	T	16: 29,449,917	W540R		Het
Birc6	A	T	17: 74,593,100	D1091V	probably damaging	Het
Bnc1	A	G	7: 81,973,502	V659A	probably benign	Het
C130074G19Rik	T	C	1: 184,874,374		probably null	Het
C1ql4	T	A	15: 99,084,812	H220L	probably benign	Het
Cacna1s	A	G	1: 136,100,625	N1147S	probably benign	Het
Cc2d2a	T	C	5: 43,695,296		probably null	Het
Ccdc36	T	C	9: 108,405,671	T273A	probably benign	Het
Ccl1	T	A	11: 82,179,693	I18L	probably benign	Het
Ecel1	A	T	1: 87,148,269	Y729N	probably damaging	Het
Epha4	T	A	1: 77,507,196	I59F	probably damaging	Het
Filip1l	A	G	16: 57,569,711	K221E	probably damaging	Het
Flnc	A	G	6: 29,456,382	E2193G	possibly damaging	Het
Galnt10	C	G	11: 57,783,723	P513A	probably damaging	Het
Gm5624	A	G	14: 44,560,733	Y139H		Het
Golgb1	A	C	16: 36,915,424	I1719L	probably benign	Het
Hsf1	T	C	15: 76,498,193	S255P	probably benign	Het
Ighv2-2	T	C	12: 113,588,294	D108G	probably damaging	Het
Kbtbd3	C	T	9: 4,316,878	Q10*	probably null	Het
Kcnh2	C	T	5: 24,333,036	V110M	probably benign	Het
Magi3	A	C	3: 104,016,689	L1112W	probably damaging	Het
Malrd1	T	A	2: 16,128,068	D1933E	unknown	Het
Mki67	G	A	7: 135,699,724	R1194*	probably null	Het
Nap1l1	T	C	10: 111,492,908	Y233H	probably damaging	Het
Napsa	A	G	7: 44,585,334	I298V	probably benign	Het
Nkx6-1	A	T	5: 101,663,599	S212R	probably damaging	Het
Nlrc4	A	T	17: 74,445,615	I591N	probably damaging	Het
Olfr1468-ps1	T	C	19: 13,375,067	I35T	possibly damaging	Het
Orc2	T	C	1: 58,467,668	D503G	possibly damaging	Het
Osbp	T	A	19: 11,978,248	S343T	probably benign	Het
Pcdha6	T	G	18: 36,969,426	D557E	probably damaging	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,113,437		probably benign	Het
Ppdpf	A	G	2: 181,187,857	Y35C	probably benign	Het
Scrn2	T	A	11: 97,030,929	L75Q	probably damaging	Het
Scube3	G	A	17: 28,171,226	V955I	probably benign	Het
Slc1a1	T	C	19: 28,911,761	V478A	probably benign	Het
Slc4a4	A	G	5: 89,058,278		probably null	Het
Srrm2	T	C	17: 23,808,110	L96P	unknown	Het
Strn	A	T	17: 78,670,423	L175Q		Het

Other mutations in Alb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Alb	APN	5	90472073	missense	probably benign	0.00
IGL01508:Alb	APN	5	90470838	missense	probably benign	0.19
IGL01722:Alb	APN	5	90470839	critical splice donor site	probably null
IGL02103:Alb	APN	5	90464131	missense	probably benign	0.00
IGL02379:Alb	APN	5	90465879	missense	probably benign	0.00
IGL02531:Alb	APN	5	90467448	missense	probably damaging	1.00
IGL02704:Alb	APN	5	90468509	missense	possibly damaging	0.82
IGL02828:Alb	APN	5	90467388	missense	probably benign	0.17
IGL03248:Alb	APN	5	90461714	splice site	probably benign
Flavius	UTSW	5	90467355	missense	probably damaging	1.00
R0714:Alb	UTSW	5	90462806	missense	possibly damaging	0.81
R1418:Alb	UTSW	5	90464202	splice site	probably benign
R1708:Alb	UTSW	5	90464051	missense	possibly damaging	0.73
R2092:Alb	UTSW	5	90463983	frame shift	probably null
R4473:Alb	UTSW	5	90464053	missense	probably damaging	1.00
R4670:Alb	UTSW	5	90462806	missense	probably benign	0.00
R4758:Alb	UTSW	5	90468593	missense	probably benign	0.00
R5583:Alb	UTSW	5	90468593	missense	probably benign	0.00
R6384:Alb	UTSW	5	90472640	missense	possibly damaging	0.67
R7268:Alb	UTSW	5	90462716	missense	probably benign	0.15
R7295:Alb	UTSW	5	90462834	critical splice donor site	probably null
R7320:Alb	UTSW	5	90464987	critical splice donor site	probably null
R7337:Alb	UTSW	5	90474593	missense	probably damaging	1.00
R7505:Alb	UTSW	5	90469509	missense	probably damaging	1.00
R7575:Alb	UTSW	5	90465929	missense	probably damaging	1.00
R7651:Alb	UTSW	5	90467355	missense	probably damaging	1.00
R7652:Alb	UTSW	5	90467355	missense	probably damaging	1.00
R7654:Alb	UTSW	5	90467355	missense	probably damaging	1.00
R7669:Alb	UTSW	5	90463991	missense	possibly damaging	0.93
R7870:Alb	UTSW	5	90472629	missense	possibly damaging	0.96
R7879:Alb	UTSW	5	90472648	missense	probably benign	0.21
R7978:Alb	UTSW	5	90472073	missense	possibly damaging	0.77
R8077:Alb	UTSW	5	90467355	missense	probably damaging	1.00
R8078:Alb	UTSW	5	90467355	missense	probably damaging	1.00
R8316:Alb	UTSW	5	90468590	missense	probably benign	0.20
R8480:Alb	UTSW	5	90462771	missense	probably damaging	0.99
R8531:Alb	UTSW	5	90464014	missense	probably benign	0.00
Z1177:Alb	UTSW	5	90468512	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAACTTTCAGGAGCAAGGGG -3'
(R):5'- TCCTTCTCTGGAAGTGTGCAG -3'

Sequencing Primer
(F):5'- GGGGGTCCTAATACATGCATATG -3'
(R):5'- TCTGGAAGTGTGCAGATATCAG -3'

Posted On

2020-09-15