Mutagenetix > Incidental Mutation

Incidental Mutation 'R6788:Ahsg'

532522

Institutional Source

Beutler Lab

Gene Symbol

Ahsg

Ensembl Gene

ENSMUSG00000022868

Gene Name

alpha-2-HS-glycoprotein

Synonyms

fetuin-A

MMRRC Submission

044902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22710793-22718193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22713585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 122 (D122G)

Ref Sequence

ENSEMBL: ENSMUSP00000023583 (fasta)

Gene Model

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

AlphaFold

P29699

Predicted Effect

probably benign
Transcript: ENSMUST00000023583
AA Change: D122G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000023583
Gene: ENSMUSG00000022868
AA Change: D122G

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

noncoding transcript
Transcript: ENSMUST00000231328
AA Change: D78G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231848
AA Change: D71G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232098
AA Change: D43G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232674

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,580,199 (GRCm39)	V2001E	probably benign	Het
Ank3	A	G	10: 69,840,553 (GRCm39)	Y1616C	probably damaging	Het
Arhgef1	A	G	7: 24,619,205 (GRCm39)		probably null	Het
Atp7b	T	C	8: 22,494,391 (GRCm39)	I1023V	probably benign	Het
Bod1l	A	T	5: 41,979,216 (GRCm39)	Y699*	probably null	Het
Car12	C	T	9: 66,659,244 (GRCm39)	S183L	probably damaging	Het
Cep290	T	C	10: 100,324,490 (GRCm39)	S57P	probably damaging	Het
Cep57l1	T	C	10: 41,619,145 (GRCm39)	D74G	probably damaging	Het
Cers6	T	C	2: 68,938,903 (GRCm39)	Y374H	possibly damaging	Het
Chmp4c	T	A	3: 10,432,195 (GRCm39)	M35K	possibly damaging	Het
Crkl	G	A	16: 17,301,645 (GRCm39)	D300N	probably damaging	Het
Cyp3a41a	A	G	5: 145,642,639 (GRCm39)	M240T	probably benign	Het
Dipk2a	C	T	9: 94,406,502 (GRCm39)	V302I	probably benign	Het
Dnah12	G	T	14: 26,523,470 (GRCm39)	L1986F	probably damaging	Het
Dnah8	T	C	17: 30,867,439 (GRCm39)	I297T	probably benign	Het
Dock10	T	A	1: 80,508,962 (GRCm39)	I1610F	probably damaging	Het
Dpys	T	A	15: 39,720,559 (GRCm39)	H67L	probably damaging	Het
Epc2	T	G	2: 49,422,099 (GRCm39)	V331G	probably benign	Het
Fnbp1l	G	A	3: 122,339,956 (GRCm39)	R344*	probably null	Het
Gmip	G	T	8: 70,263,824 (GRCm39)	L89F	possibly damaging	Het
Gmip	G	C	8: 70,263,826 (GRCm39)	R90P	probably damaging	Het
Gpi1	A	G	7: 33,928,415 (GRCm39)	S74P	probably damaging	Het
Gys1	G	A	7: 45,094,102 (GRCm39)	E406K	probably damaging	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Klhl29	C	T	12: 5,134,393 (GRCm39)	V673M	probably damaging	Het
Lnpk	T	C	2: 74,360,020 (GRCm39)	T332A	probably benign	Het
Loxl4	T	C	19: 42,596,792 (GRCm39)	D60G	probably damaging	Het
Lrr1	T	C	12: 69,221,449 (GRCm39)	I197T	probably damaging	Het
Map1lc3b	A	G	8: 122,320,316 (GRCm39)	N43S	probably benign	Het
Map3k21	A	T	8: 126,666,605 (GRCm39)	D599V	probably benign	Het
Mastl	T	C	2: 23,023,710 (GRCm39)	N338D	probably benign	Het
Mepe	A	T	5: 104,486,074 (GRCm39)	R405*	probably null	Het
Mrps30	T	C	13: 118,516,908 (GRCm39)	E437G	probably benign	Het
Mup15	A	G	4: 61,356,465 (GRCm39)	V100A	possibly damaging	Het
Olfml1	A	T	7: 107,167,075 (GRCm39)	I35F	probably damaging	Het
Olfml2a	T	A	2: 38,850,238 (GRCm39)	Y651*	probably null	Het
Or2h1b	T	A	17: 37,462,713 (GRCm39)	D50V	probably damaging	Het
Otog	T	C	7: 45,947,741 (GRCm39)	V113A	probably damaging	Het
Parvg	C	T	15: 84,210,464 (GRCm39)	L44F	possibly damaging	Het
Pcnx2	G	T	8: 126,498,839 (GRCm39)	D1553E	probably damaging	Het
Pcyt2	C	T	11: 120,505,200 (GRCm39)	G122S	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Polq	C	T	16: 36,897,510 (GRCm39)	T2134I	probably damaging	Het
Prkce	T	G	17: 86,937,489 (GRCm39)	F641V	probably damaging	Het
Prss1	T	C	6: 41,440,654 (GRCm39)	I243T	possibly damaging	Het
Pxmp2	A	G	5: 110,429,185 (GRCm39)	F91L	probably benign	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Rasgef1a	T	G	6: 118,064,174 (GRCm39)	M337R	possibly damaging	Het
Rassf2	A	G	2: 131,844,845 (GRCm39)	M199T	probably damaging	Het
Rtbdn	A	T	8: 85,679,303 (GRCm39)	Y67F	probably null	Het
Scamp3	T	C	3: 89,089,256 (GRCm39)	V271A	probably benign	Het
Sema3a	A	T	5: 13,647,584 (GRCm39)	R613W	possibly damaging	Het
Slc4a3	A	T	1: 75,527,959 (GRCm39)	I206F	probably damaging	Het
Slc9b1	A	G	3: 135,063,518 (GRCm39)		probably null	Het
Smchd1	C	A	17: 71,782,096 (GRCm39)	V22F	probably benign	Het
Smg1	A	G	7: 117,783,794 (GRCm39)		probably benign	Het
Spaca7b	T	C	8: 11,728,584 (GRCm39)	E29G	possibly damaging	Het
Spata31e4	A	C	13: 50,857,131 (GRCm39)	H923P	probably damaging	Het
Stab1	A	G	14: 30,861,117 (GRCm39)	L89P	probably damaging	Het
Stim1	A	G	7: 102,076,498 (GRCm39)	E152G	probably damaging	Het
Tenm3	A	G	8: 49,127,528 (GRCm39)	F50S	probably damaging	Het
Tpgs2	T	G	18: 25,262,927 (GRCm39)	N231H	probably benign	Het
Trank1	T	A	9: 111,219,747 (GRCm39)	N2161K	probably damaging	Het
Trim28	A	G	7: 12,759,273 (GRCm39)	D129G	probably benign	Het
Trim66	A	T	7: 109,076,961 (GRCm39)	I326N	probably damaging	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Uggt1	T	A	1: 36,269,769 (GRCm39)	T83S	probably benign	Het
Wdr91	A	G	6: 34,863,754 (GRCm39)	I587T	probably damaging	Het
Zpld1	A	T	16: 55,052,603 (GRCm39)	V337D	possibly damaging	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
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
R9055:Ahsg	UTSW	16	22,711,069 (GRCm39)	missense	possibly damaging	0.51
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'- TGTTTCAATAACACCCGTGAAG -3'
(R):5'- TGAAGGTCACCAAGTCACAGC -3'

Sequencing Primer
(F):5'- TAACACCCGTGAAGGTTGC -3'
(R):5'- GGGACAATGTTCGCCCACAAG -3'

Posted On

2018-08-29