Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:A1bg'

636285

Institutional Source

Beutler Lab

Gene Symbol

A1bg

Ensembl Gene

ENSMUSG00000022347

Gene Name

alpha-1-B glycoprotein

Synonyms

C44

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60896859-60923012 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60919756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 277 (Y277C)

Ref Sequence

ENSEMBL: ENSMUSP00000094151 (fasta)

Gene Model

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

AlphaFold

Q19LI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000096418
AA Change: Y277C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094151
Gene: ENSMUSG00000022347
AA Change: Y277C

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
AA Change: Y84C

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228929

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
C77080	A	T	4: 129,221,459	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881	E319K	unknown	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759	E40D	probably benign	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257	L30Q	probably damaging	Het
Prdm15	T	A	16: 97,807,060	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Trpv1	T	C	11: 73,254,251	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	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
R5825:A1bg	UTSW	15	60920127	nonsense	probably null
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
R9124:A1bg	UTSW	15	60920830	missense	possibly damaging	0.78
Z1177:A1bg	UTSW	15	60918074	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- GGCTAAGTGGGCTCAATACG -3'
(R):5'- AAAGCAGAGTGTCCTGGACTC -3'

Sequencing Primer
(F):5'- GCTCAATACGTTCATATTTGGAGG -3'
(R):5'- AGAGTGTCCTGGACTCCTCAC -3'

Posted On

2020-07-13