Mutagenetix > Incidental Mutation

Incidental Mutation 'R7026:Ahsg'

545995

Institutional Source

Beutler Lab

Gene Symbol

Ahsg

Ensembl Gene

ENSMUSG00000022868

Gene Name

alpha-2-HS-glycoprotein

Synonyms

fetuin-A

MMRRC Submission

045127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7026 (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 22710963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 33 (D33E)

Ref Sequence

ENSEMBL: ENSMUSP00000156181 (fasta)

Gene Model

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

AlphaFold

P29699

Predicted Effect

probably damaging
Transcript: ENSMUST00000023583
AA Change: D33E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023583
Gene: ENSMUSG00000022868
AA Change: D33E

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: D33E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000232098

Predicted Effect

probably benign
Transcript: ENSMUST00000232674

Meta Mutation Damage Score

0.1969

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

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
Abcc2	A	T	19: 43,805,392 (GRCm39)	M749L	probably benign	Het
Abcc2	A	G	19: 43,818,974 (GRCm39)	N1321S	probably benign	Het
Acsm2	T	A	7: 119,191,450 (GRCm39)	V506E	probably damaging	Het
Add2	G	A	6: 86,063,965 (GRCm39)	R88Q	probably benign	Het
Adgra3	A	G	5: 50,118,083 (GRCm39)	V1155A	probably benign	Het
Alox12b	A	T	11: 69,048,131 (GRCm39)	D20V	possibly damaging	Het
Alppl2	A	G	1: 87,017,420 (GRCm39)		probably null	Het
Ankfn1	A	G	11: 89,530,403 (GRCm39)	*49Q	probably null	Het
Bcl11b	T	C	12: 107,882,851 (GRCm39)	D488G	probably damaging	Het
Bcl2l10	T	A	9: 75,258,364 (GRCm39)	F175L	probably benign	Het
C2cd3	T	A	7: 100,081,299 (GRCm39)	D127E	probably damaging	Het
Cacna1c	C	T	6: 118,614,732 (GRCm39)	V1311I	probably damaging	Het
Cd55b	A	T	1: 130,316,427 (GRCm39)	I374K	probably benign	Het
Cfap36	T	C	11: 29,172,565 (GRCm39)	T267A	probably benign	Het
Cibar2	G	A	8: 120,895,324 (GRCm39)	H193Y	probably damaging	Het
Cog1	T	C	11: 113,540,415 (GRCm39)	L10P	probably damaging	Het
Dnah7a	T	A	1: 53,543,448 (GRCm39)	M2241L	probably benign	Het
Dock10	G	T	1: 80,479,504 (GRCm39)	A1809E	probably benign	Het
Dock7	A	T	4: 98,967,156 (GRCm39)	D255E	probably benign	Het
Exph5	T	C	9: 53,251,728 (GRCm39)	F123L	probably benign	Het
Fbxw27	C	A	9: 109,617,146 (GRCm39)	K118N	possibly damaging	Het
Fscb	C	A	12: 64,518,391 (GRCm39)	S1025I	unknown	Het
Get4	C	T	5: 139,238,358 (GRCm39)	R47W	possibly damaging	Het
Gm3676	G	A	14: 41,366,072 (GRCm39)	S81F	probably benign	Het
Gulp1	C	T	1: 44,820,245 (GRCm39)	P251S	possibly damaging	Het
Hhatl	T	C	9: 121,617,339 (GRCm39)	D298G	probably benign	Het
Hsf2bp	T	A	17: 32,252,254 (GRCm39)	K60N	possibly damaging	Het
Ints4	T	A	7: 97,168,361 (GRCm39)	V625D	possibly damaging	Het
Iqch	T	A	9: 63,432,421 (GRCm39)	K286*	probably null	Het
Irak1bp1	T	A	9: 82,712,084 (GRCm39)	S2T	possibly damaging	Het
Kdm3b	G	A	18: 34,955,517 (GRCm39)	V1135I	possibly damaging	Het
Lama3	C	A	18: 12,649,605 (GRCm39)	N181K	probably damaging	Het
Lrfn2	T	G	17: 49,404,005 (GRCm39)	S709R	probably benign	Het
Lrp12	T	C	15: 39,743,566 (GRCm39)	H123R	probably damaging	Het
Lrp1b	A	G	2: 41,159,234 (GRCm39)	S1569P	probably damaging	Het
Lrp2	T	G	2: 69,352,131 (GRCm39)	Q635P	probably damaging	Het
Mboat2	T	C	12: 24,998,381 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,954,378 (GRCm39)	T596A	probably benign	Het
Mroh9	T	A	1: 162,888,251 (GRCm39)	M275L	probably benign	Het
Ms4a10	A	C	19: 10,944,869 (GRCm39)		probably null	Het
Myo9a	C	T	9: 59,722,617 (GRCm39)	R560C	probably damaging	Het
Or11h4b	A	G	14: 50,918,716 (GRCm39)	I125T	probably damaging	Het
Or5b107	A	G	19: 13,142,779 (GRCm39)	T134A	probably benign	Het
Or6z1	T	A	7: 6,504,820 (GRCm39)	H135L	probably damaging	Het
Ormdl3	A	G	11: 98,474,808 (GRCm39)	V45A	possibly damaging	Het
Parp4	T	C	14: 56,858,049 (GRCm39)	Y894H	probably benign	Het
Pigo	G	A	4: 43,023,380 (GRCm39)	Q259*	probably null	Het
Prrc2a	G	A	17: 35,380,803 (GRCm39)	P70S	unknown	Het
Rab3ip	A	G	10: 116,773,441 (GRCm39)	I124T	probably benign	Het
Rap1b	A	G	10: 117,654,384 (GRCm39)	I21T	probably benign	Het
Rasgrf2	T	A	13: 92,131,732 (GRCm39)	S642C	probably damaging	Het
Rb1	T	C	14: 73,535,539 (GRCm39)	E106G	probably benign	Het
Reps1	C	A	10: 17,983,437 (GRCm39)	R427S	probably damaging	Het
Rnf213	A	C	11: 119,370,481 (GRCm39)	H4760P	possibly damaging	Het
Rtl1	A	G	12: 109,559,595 (GRCm39)	I748T	probably damaging	Het
Sco1	A	T	11: 66,944,683 (GRCm39)	K102M	probably damaging	Het
Sec16b	T	C	1: 157,362,281 (GRCm39)	M44T	possibly damaging	Het
Slc7a10	T	C	7: 34,898,139 (GRCm39)	M297T	probably damaging	Het
Smchd1	T	C	17: 71,656,662 (GRCm39)	H1935R	probably benign	Het
Sowaha	G	A	11: 53,370,050 (GRCm39)	R229W	probably damaging	Het
Sptlc3	A	T	2: 139,379,608 (GRCm39)	M83L	probably benign	Het
Tbc1d9	T	C	8: 83,968,192 (GRCm39)	V431A	probably benign	Het
Tmem98	A	G	11: 80,712,214 (GRCm39)	E217G	possibly damaging	Het
Trim13	T	A	14: 61,842,562 (GRCm39)	L193*	probably null	Het
Trp53bp2	T	C	1: 182,270,300 (GRCm39)	S367P	probably benign	Het
Tsc2	T	G	17: 24,845,713 (GRCm39)	I202L	probably damaging	Het
Twf2	T	A	9: 106,092,079 (GRCm39)	V312E	probably damaging	Het
Usp34	G	T	11: 23,311,622 (GRCm39)	L471F	probably damaging	Het
Vps37c	A	G	19: 10,683,632 (GRCm39)	D18G	probably damaging	Het
Zfp1010	T	A	2: 176,957,361 (GRCm39)	I46F	probably benign	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
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'- TTACGCAATTCCTTCGGCG -3'
(R):5'- TGAGGCACTGGGTTAGATCC -3'

Sequencing Primer
(F):5'- GGCTCTGTCAGATAAATTAGGCCC -3'
(R):5'- TGGGTTAGATCCCCTACCCAG -3'

Posted On

2019-05-13