Mutagenetix > Incidental Mutation

Incidental Mutation 'R9055:Ahsg'

688652

Institutional Source

Beutler Lab

Gene Symbol

Ahsg

Ensembl Gene

ENSMUSG00000022868

Gene Name

alpha-2-HS-glycoprotein

Synonyms

fetuin-A

MMRRC Submission

068881-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9055 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22710793-22718193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22711069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 69 (W69R)

Ref Sequence

ENSEMBL: ENSMUSP00000023583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023583] [ENSMUST00000231328] [ENSMUST00000231848] [ENSMUST00000231932] [ENSMUST00000232098] [ENSMUST00000232674]

AlphaFold

P29699

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023583
AA Change: W69R

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023583
Gene: ENSMUSG00000022868
AA Change: W69R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CY	22	133	8.6e-24	SMART
CY	145	248	6.58e-20	SMART
low complexity region	273	288	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231328

Predicted Effect

probably benign
Transcript: ENSMUST00000231848

Predicted Effect

probably damaging
Transcript: ENSMUST00000231932
AA Change: W69R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000232098

Predicted Effect

probably benign
Transcript: ENSMUST00000232674

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking this gene exhibit defective inhibition of serum apatite formation, sometimes causing muscle calcification. They are resistant to weight gain on a high-fat diet and have increased insulin sensitivity and glucose clearance and reduced fasting plasma free fatty acids and triglycerides. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	A	19: 57,030,398 (GRCm39)	T753S	probably benign	Het
Acy3	A	G	19: 4,038,178 (GRCm39)	E157G	probably benign	Het
Adamts20	A	G	15: 94,181,867 (GRCm39)	Y1609H	probably damaging	Het
Ahnak2	C	T	12: 112,741,019 (GRCm39)	A1018T	possibly damaging	Het
Alox12	T	G	11: 70,143,903 (GRCm39)	D159A	probably damaging	Het
Alox12b	C	G	11: 69,054,884 (GRCm39)	P296A	possibly damaging	Het
Ankrd17	T	C	5: 90,380,168 (GRCm39)	I2507V	probably benign	Het
Apeh	T	C	9: 107,963,045 (GRCm39)	M670V	possibly damaging	Het
Aqp12	C	T	1: 92,934,627 (GRCm39)	A168V	probably benign	Het
Ceacam1	A	T	7: 25,171,299 (GRCm39)	D388E	probably damaging	Het
Clp1	A	T	2: 84,554,266 (GRCm39)	I301N	probably damaging	Het
Cntn3	A	G	6: 102,244,398 (GRCm39)	F384L	probably benign	Het
Dnpep	A	T	1: 75,291,805 (GRCm39)	M238K	possibly damaging	Het
Dync2h1	A	T	9: 6,996,641 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,623,360 (GRCm39)	N98K	probably benign	Het
Egr3	T	A	14: 70,316,349 (GRCm39)	N15K	probably damaging	Het
Fbxo25	T	A	8: 13,965,023 (GRCm39)	C25S	possibly damaging	Het
Fgd4	T	A	16: 16,240,494 (GRCm39)	D745V	possibly damaging	Het
Flnb	T	A	14: 7,908,553 (GRCm38)	D1310E	probably benign	Het
Ggnbp2	A	G	11: 84,732,448 (GRCm39)	F215S	probably damaging	Het
Gm1979	C	T	5: 26,207,032 (GRCm39)	R107Q	probably benign	Het
Gm4847	T	A	1: 166,467,677 (GRCm39)	H173L	probably damaging	Het
Gmeb1	A	T	4: 131,964,425 (GRCm39)	L146H	probably damaging	Het
Gpr88	A	G	3: 116,046,300 (GRCm39)	S4P	unknown	Het
Gucy1a1	A	G	3: 82,016,433 (GRCm39)	L185P	possibly damaging	Het
Hsd3b6	G	T	3: 98,713,984 (GRCm39)	T105N	probably damaging	Het
Iqca1	T	C	1: 89,998,335 (GRCm39)	Y546C	probably benign	Het
Irf1	T	A	11: 53,667,196 (GRCm39)	I305N	probably benign	Het
Itgb3	G	A	11: 104,556,451 (GRCm39)	W764*	probably null	Het
Klra8	G	T	6: 130,096,017 (GRCm39)	R192S	probably benign	Het
Krt79	T	A	15: 101,839,922 (GRCm39)	I358F	probably damaging	Het
Mettl4	T	C	17: 95,047,843 (GRCm39)	D266G	possibly damaging	Het
Mfsd8	G	A	3: 40,786,493 (GRCm39)	A219V	probably benign	Het
Mgam	G	A	6: 40,691,663 (GRCm39)		probably benign	Het
Nek9	A	T	12: 85,348,616 (GRCm39)	C973S	probably damaging	Het
Or2k2	G	T	4: 58,785,374 (GRCm39)	A116E	possibly damaging	Het
Or4f15	A	T	2: 111,814,049 (GRCm39)	Y123*	probably null	Het
Or8c13	T	C	9: 38,091,780 (GRCm39)	Y113C	probably damaging	Het
Ostc	T	A	3: 130,503,020 (GRCm39)	E2V	probably damaging	Het
Ostc	C	A	3: 130,503,021 (GRCm39)	E2*	probably null	Het
Pcdhb8	T	A	18: 37,490,585 (GRCm39)	C754*	probably null	Het
Polr1a	A	G	6: 71,892,053 (GRCm39)	T111A	possibly damaging	Het
Prep	C	T	10: 44,991,291 (GRCm39)	T319M	probably benign	Het
Reg3b	A	C	6: 78,349,886 (GRCm39)	D142A	possibly damaging	Het
Retsat	A	G	6: 72,583,936 (GRCm39)	D537G	probably benign	Het
Rnf2	G	A	1: 151,352,030 (GRCm39)	L109F	probably damaging	Het
Rskr	A	G	11: 78,184,373 (GRCm39)	D240G	probably damaging	Het
Runx3	G	T	4: 134,902,656 (GRCm39)	R262L	probably damaging	Het
Rwdd3	G	T	3: 120,952,871 (GRCm39)	T112K	probably benign	Het
Scfd2	T	C	5: 74,691,931 (GRCm39)	H117R	possibly damaging	Het
Scn10a	C	T	9: 119,451,958 (GRCm39)	V1321M	probably damaging	Het
Sec31a	T	C	5: 100,534,040 (GRCm39)	E119G	possibly damaging	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc18a1	T	A	8: 69,520,823 (GRCm39)	I199F	possibly damaging	Het
St18	C	T	1: 6,873,206 (GRCm39)	R314*	probably null	Het
Sucla2	T	G	14: 73,819,068 (GRCm39)		probably benign	Het
Sulf1	A	T	1: 12,878,187 (GRCm39)	H225L	probably damaging	Het
Tas2r140	A	G	6: 133,032,380 (GRCm39)	V126A	possibly damaging	Het
Tcp10b	T	C	17: 13,281,828 (GRCm39)	I66T	probably damaging	Het
Tmem45a2	T	C	16: 56,861,115 (GRCm39)	I237M	probably benign	Het
Traf3ip1	C	T	1: 91,428,733 (GRCm39)	R167*	probably null	Het
Trav17	T	G	14: 54,044,320 (GRCm39)	V30G	probably damaging	Het
Vmn1r54	A	G	6: 90,246,100 (GRCm39)	N5D	probably benign	Het
Vmn2r81	A	G	10: 79,110,441 (GRCm39)	H518R	probably benign	Het
Washc3	A	G	10: 88,051,916 (GRCm39)	T102A	probably benign	Het
Xaf1	A	G	11: 72,194,266 (GRCm39)	H49R	probably damaging	Het
Zfp1001	G	A	2: 150,165,753 (GRCm39)		probably benign	Het
Zfp276	T	C	8: 123,985,109 (GRCm39)	F356L	probably damaging	Het
Zfp398	G	T	6: 47,843,319 (GRCm39)	R457L	possibly damaging	Het
Zfp512	G	T	5: 31,637,533 (GRCm39)	E541*	probably null	Het

Other mutations in Ahsg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01830:Ahsg	APN	16	22,717,779 (GRCm39)	missense	probably damaging	1.00
IGL01885:Ahsg	APN	16	22,717,731 (GRCm39)	missense	probably damaging	1.00
IGL02208:Ahsg	APN	16	22,711,060 (GRCm39)	missense	possibly damaging	0.89
IGL02593:Ahsg	APN	16	22,711,078 (GRCm39)	critical splice donor site	probably null
IGL03059:Ahsg	APN	16	22,717,755 (GRCm39)	missense	possibly damaging	0.57
R0257:Ahsg	UTSW	16	22,717,790 (GRCm39)	missense	probably benign
R0615:Ahsg	UTSW	16	22,717,805 (GRCm39)	missense	possibly damaging	0.92
R1829:Ahsg	UTSW	16	22,711,078 (GRCm39)	unclassified	probably benign
R5034:Ahsg	UTSW	16	22,717,650 (GRCm39)	missense	probably damaging	1.00
R5149:Ahsg	UTSW	16	22,717,673 (GRCm39)	missense	probably benign	0.02
R5670:Ahsg	UTSW	16	22,716,913 (GRCm39)	missense	probably benign
R6264:Ahsg	UTSW	16	22,717,611 (GRCm39)	missense	probably benign	0.00
R6788:Ahsg	UTSW	16	22,713,585 (GRCm39)	missense	probably benign	0.01
R7026:Ahsg	UTSW	16	22,710,963 (GRCm39)	missense	probably damaging	1.00
R7027:Ahsg	UTSW	16	22,711,007 (GRCm39)	missense	probably damaging	0.99
X0060:Ahsg	UTSW	16	22,714,012 (GRCm39)	missense	probably damaging	1.00
Z1177:Ahsg	UTSW	16	22,717,797 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTGCCCATTTTCCAGGGC -3'
(R):5'- GGAGCATCCTCTGTGAGATACAC -3'

Sequencing Primer
(F):5'- AACCATGAAGTCCCTGGTCTTG -3'
(R):5'- TACACGGCTACAATACTGATGTGGC -3'

Posted On

2021-11-19