Mutagenetix > Incidental Mutations

Incidental Mutation 'R5825:A1bg'

501607

Institutional Source

Beutler Lab

Gene Symbol

A1bg

Ensembl Gene

ENSMUSG00000022347

Gene Name

alpha-1-B glycoprotein

Synonyms

C44

MMRRC Submission

044053-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60896859-60923012 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 60920127 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 217 (Y217*)

Ref Sequence

ENSEMBL: ENSMUSP00000094151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096418] [ENSMUST00000228632]

Predicted Effect

probably null
Transcript: ENSMUST00000096418
AA Change: Y217*

SMART Domains

Protein: ENSMUSP00000094151
Gene: ENSMUSG00000022347
AA Change: Y217*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG_like	34	109	1.09e2	SMART
Blast:IG_like	137	215	5e-15	BLAST
Pfam:Ig_2	223	314	8.8e-11	PFAM
IG	328	415	1.32e-3	SMART
IG_like	426	511	9.21e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228929

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 83.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,436,736	I567F	probably benign	Het
Acss2	T	A	2: 155,549,178		probably null	Het
Atxn7l2	C	A	3: 108,204,811	A320S	probably damaging	Het
Bfsp1	C	T	2: 143,827,459	G400D	probably benign	Het
Ces5a	G	T	8: 93,525,667	A199D	probably damaging	Het
Chd2	A	T	7: 73,484,602		probably null	Het
Crebbp	A	G	16: 4,087,742	V1705A	probably damaging	Het
Cyp2j8	T	A	4: 96,507,214	Q58L	probably benign	Het
Dlec1	T	A	9: 119,142,968	I1379N	probably damaging	Het
Dnah9	T	C	11: 66,126,601	H593R	probably benign	Het
Ep300	T	A	15: 81,611,472	C412S	probably benign	Het
Fam110a	A	G	2: 151,970,041	S270P	probably damaging	Het
Gcc2	A	G	10: 58,294,821	T1412A	probably damaging	Het
Gm4788	T	A	1: 139,774,598		probably null	Het
Helz2	T	C	2: 181,232,656	E2015G	probably benign	Het
Hormad1	T	C	3: 95,562,559	V39A	probably damaging	Het
Igf2	G	T	7: 142,653,855	H168Q	probably damaging	Het
Il18rap	A	G	1: 40,531,566	T223A	probably benign	Het
Itpr2	T	C	6: 146,144,149	E2573G	probably damaging	Het
Jcad	T	A	18: 4,674,896	V886E	probably benign	Het
Klra1	T	C	6: 130,380,629	R12G	probably damaging	Het
Lamb1	A	G	12: 31,318,614	I1248V	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mapk7	C	T	11: 61,490,381	R465Q	possibly damaging	Het
Mogs	T	C	6: 83,118,212	V670A	possibly damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Ninl	A	T	2: 150,940,724	I1182N	probably damaging	Het
Nup160	A	G	2: 90,679,770		probably null	Het
Nynrin	A	G	14: 55,864,226	R451G	probably benign	Het
Olfr1126	A	G	2: 87,457,450	D95G	probably benign	Het
Olfr190	T	C	16: 59,074,661	I140V	probably benign	Het
Osbp	A	G	19: 11,970,721	T131A	probably damaging	Het
Pcdhga12	A	C	18: 37,768,503	D796A	possibly damaging	Het
Pcdhgb8	G	A	18: 37,762,236	V120I	probably benign	Het
Pdgfb	A	T	15: 79,997,668	V213E	probably benign	Het
Phldb2	T	C	16: 45,763,097	M1013V	probably benign	Het
Pnmal1	A	G	7: 16,961,095	S292G	probably benign	Het
Prrt4	A	G	6: 29,177,183	S196P	probably benign	Het
Rap1gds1	T	C	3: 138,955,375	M463V	possibly damaging	Het
Tmprss11g	A	T	5: 86,498,533	S58R	probably damaging	Het
Traf3	C	A	12: 111,255,361	Q319K	probably benign	Het
Trappc8	C	T	18: 20,873,920	V194M	probably damaging	Het
Tyw1	A	G	5: 130,268,088	K182R	probably damaging	Het
Usp48	A	G	4: 137,623,378	T585A	probably benign	Het
Xkr6	G	T	14: 63,819,032	V387L	probably benign	Het
Yod1	T	C	1: 130,719,006	W207R	probably damaging	Het
Zdhhc8	T	C	16: 18,228,674	S63G	probably null	Het
Zfp827	A	G	8: 79,179,016	E874G	probably damaging	Het
Zfy1	T	A	Y: 726,531	K411N	possibly damaging	Het

Other mutations in A1bg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:A1bg	APN	15	60921253	missense	probably damaging	0.98
IGL01622:A1bg	APN	15	60917893	missense	possibly damaging	0.66
IGL01623:A1bg	APN	15	60917893	missense	possibly damaging	0.66
IGL03131:A1bg	APN	15	60919756	missense	probably damaging	1.00
IGL03162:A1bg	APN	15	60919732	missense	probably damaging	0.99
IGL03356:A1bg	APN	15	60919888	missense	probably benign	0.00
R0009:A1bg	UTSW	15	60919633	unclassified	probably benign
R0009:A1bg	UTSW	15	60919633	unclassified	probably benign
R0014:A1bg	UTSW	15	60919732	missense	probably damaging	0.99
R1084:A1bg	UTSW	15	60918155	unclassified	probably benign
R1199:A1bg	UTSW	15	60919635	critical splice donor site	probably null
R4212:A1bg	UTSW	15	60919736	missense	possibly damaging	0.91
R4543:A1bg	UTSW	15	60917900	missense	probably damaging	1.00
R4835:A1bg	UTSW	15	60920251	missense	probably benign	0.00
R5404:A1bg	UTSW	15	60919696	missense	probably benign	0.02
R5553:A1bg	UTSW	15	60920841	missense	probably damaging	0.98
R5580:A1bg	UTSW	15	60919032	missense	probably benign	0.09
R5583:A1bg	UTSW	15	60921234	missense	probably damaging	1.00
R5937:A1bg	UTSW	15	60919646	missense	probably benign	0.22
R6021:A1bg	UTSW	15	60919864	missense	possibly damaging	0.84
R6193:A1bg	UTSW	15	60920780	missense	probably benign	0.00
R6565:A1bg	UTSW	15	60920810	missense	probably damaging	1.00
R6870:A1bg	UTSW	15	60919715	missense	probably damaging	1.00
R6939:A1bg	UTSW	15	60920395	missense	probably damaging	0.98
R8115:A1bg	UTSW	15	60920147	missense	probably benign	0.18
R8213:A1bg	UTSW	15	60919756	missense	probably damaging	1.00
Z1177:A1bg	UTSW	15	60918074	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TCCCATCAAACACAGAGTGGG -3'
(R):5'- ATGTGCCAGGTTGCAATGC -3'

Sequencing Primer
(F):5'- CCTGTGAGGCTGCAAGC -3'
(R):5'- AATGCGGGGTGTGACCTAC -3'

Posted On

2017-12-01