Mutagenetix > Incidental Mutation

Incidental Mutation 'R6870:A1bg'

536165

Institutional Source

Beutler Lab

Gene Symbol

A1bg

Ensembl Gene

ENSMUSG00000022347

Gene Name

alpha-1-B glycoprotein

Synonyms

C44

MMRRC Submission

044967-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60789438-60793119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60791564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 291 (T291A)

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: T291A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000094151
Gene: ENSMUSG00000022347
AA Change: T291A

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: T98A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

72% (39/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,020,608 (GRCm39)	Y62C	probably benign	Het
Abcb11	A	G	2: 69,115,642 (GRCm39)	I574T	possibly damaging	Het
Abcb5	T	A	12: 118,929,000 (GRCm39)	Y17F	possibly damaging	Het
Arfgef3	A	T	10: 18,522,478 (GRCm39)	L516*	probably null	Het
Arhgap21	A	G	2: 20,885,321 (GRCm39)	S619P	probably damaging	Het
Atp2c1	A	G	9: 105,347,261 (GRCm39)	V65A	probably benign	Het
Calm3	T	A	7: 16,653,568 (GRCm39)	Q9L	probably benign	Het
Cd300c2	C	T	11: 114,891,503 (GRCm39)	D124N	probably damaging	Het
Celsr3	A	G	9: 108,706,390 (GRCm39)	T958A	probably benign	Het
Cemip2	T	C	19: 21,809,487 (GRCm39)	S956P	possibly damaging	Het
Cfap69	T	C	5: 5,671,958 (GRCm39)	T317A	probably benign	Het
Cluh	T	A	11: 74,556,210 (GRCm39)	I887K	probably damaging	Het
Dag1	A	T	9: 108,086,457 (GRCm39)	V228E	probably damaging	Het
Dhtkd1	T	C	2: 5,924,248 (GRCm39)		probably null	Het
Dnah1	T	A	14: 30,993,018 (GRCm39)	K2959*	probably null	Het
Dnttip2	T	A	3: 122,069,457 (GRCm39)	V224E	probably damaging	Het
Drosha	C	T	15: 12,907,479 (GRCm39)	P1071L	probably benign	Het
E030025P04Rik	T	A	11: 109,030,993 (GRCm39)	H84L	unknown	Het
Elac2	A	T	11: 64,890,589 (GRCm39)	S698C	probably null	Het
Elf2	A	T	3: 51,201,586 (GRCm39)	*88R	probably null	Het
Fastkd1	T	A	2: 69,538,958 (GRCm39)	I143L	probably benign	Het
Fbxw10	C	T	11: 62,746,193 (GRCm39)	R366C	probably damaging	Het
Frg2f1	T	C	4: 119,388,329 (GRCm39)	M57V	probably benign	Het
Gbp4	T	C	5: 105,273,444 (GRCm39)	S129G	probably damaging	Het
Gnat2	A	C	3: 108,002,947 (GRCm39)		probably benign	Het
Golgb1	C	A	16: 36,738,565 (GRCm39)	F2301L	probably damaging	Het
Il18bp	T	C	7: 101,666,518 (GRCm39)	T2A	possibly damaging	Het
Kpna2	T	C	11: 106,883,520 (GRCm39)		probably null	Het
Lrrfip2	A	T	9: 111,045,187 (GRCm39)		probably benign	Het
Map4k1	T	G	7: 28,701,096 (GRCm39)		probably null	Het
Mcm3ap	T	C	10: 76,306,049 (GRCm39)	V54A	probably benign	Het
Nup133	A	G	8: 124,626,246 (GRCm39)	I1112T	probably benign	Het
Or8b1	A	C	9: 38,399,382 (GRCm39)	D19A	probably benign	Het
Pcdhac1	T	A	18: 37,225,140 (GRCm39)	V651D	probably damaging	Het
Pde10a	A	G	17: 9,186,356 (GRCm39)	T571A	possibly damaging	Het
Phc3	A	G	3: 30,990,910 (GRCm39)	S403P	probably damaging	Het
Prl7b1	T	C	13: 27,788,516 (GRCm39)	E113G	probably damaging	Het
Psmd2	T	G	16: 20,480,593 (GRCm39)	M744R	probably benign	Het
Qrich2	T	C	11: 116,346,156 (GRCm39)	D1556G	probably damaging	Het
Septin1	C	T	7: 126,816,876 (GRCm39)	V46M	probably benign	Het
Shank2	C	A	7: 143,606,197 (GRCm39)	Q127K	probably damaging	Het
Siah1a	A	G	8: 87,451,653 (GRCm39)	V277A	possibly damaging	Het
Slc4a7	T	A	14: 14,733,846 (GRCm38)	D85E	probably damaging	Het
Slc5a12	A	T	2: 110,472,155 (GRCm39)	I526F	probably damaging	Het
Svil	T	C	18: 5,063,231 (GRCm39)	V834A	possibly damaging	Het
Sycp1	T	A	3: 102,842,919 (GRCm39)	S17C	probably damaging	Het
Tssk6	G	A	8: 70,355,673 (GRCm39)	R239Q	probably benign	Het
Txnrd1	A	G	10: 82,709,042 (GRCm39)	D80G	probably benign	Het
Tyk2	A	G	9: 21,036,250 (GRCm39)	F79S	probably damaging	Het
Tyrp1	T	C	4: 80,769,014 (GRCm39)	S503P	probably benign	Het
Upf1	A	T	8: 70,794,211 (GRCm39)	C232S	probably benign	Het
Zeb2	G	A	2: 44,878,922 (GRCm39)	T1080I	probably damaging	Het

Other mutations in A1bg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:A1bg	APN	15	60,793,102 (GRCm39)	missense	probably damaging	0.98
IGL01622:A1bg	APN	15	60,789,742 (GRCm39)	missense	possibly damaging	0.66
IGL01623:A1bg	APN	15	60,789,742 (GRCm39)	missense	possibly damaging	0.66
IGL03131:A1bg	APN	15	60,791,605 (GRCm39)	missense	probably damaging	1.00
IGL03162:A1bg	APN	15	60,791,581 (GRCm39)	missense	probably damaging	0.99
IGL03356:A1bg	APN	15	60,791,737 (GRCm39)	missense	probably benign	0.00
R0009:A1bg	UTSW	15	60,791,482 (GRCm39)	unclassified	probably benign
R0009:A1bg	UTSW	15	60,791,482 (GRCm39)	unclassified	probably benign
R0014:A1bg	UTSW	15	60,791,581 (GRCm39)	missense	probably damaging	0.99
R1084:A1bg	UTSW	15	60,790,004 (GRCm39)	unclassified	probably benign
R1199:A1bg	UTSW	15	60,791,484 (GRCm39)	critical splice donor site	probably null
R4212:A1bg	UTSW	15	60,791,585 (GRCm39)	missense	possibly damaging	0.91
R4543:A1bg	UTSW	15	60,789,749 (GRCm39)	missense	probably damaging	1.00
R4835:A1bg	UTSW	15	60,792,100 (GRCm39)	missense	probably benign	0.00
R5404:A1bg	UTSW	15	60,791,545 (GRCm39)	missense	probably benign	0.02
R5553:A1bg	UTSW	15	60,792,690 (GRCm39)	missense	probably damaging	0.98
R5580:A1bg	UTSW	15	60,790,881 (GRCm39)	missense	probably benign	0.09
R5583:A1bg	UTSW	15	60,793,083 (GRCm39)	missense	probably damaging	1.00
R5825:A1bg	UTSW	15	60,791,976 (GRCm39)	nonsense	probably null
R5937:A1bg	UTSW	15	60,791,495 (GRCm39)	missense	probably benign	0.22
R6021:A1bg	UTSW	15	60,791,713 (GRCm39)	missense	possibly damaging	0.84
R6193:A1bg	UTSW	15	60,792,629 (GRCm39)	missense	probably benign	0.00
R6565:A1bg	UTSW	15	60,792,659 (GRCm39)	missense	probably damaging	1.00
R6939:A1bg	UTSW	15	60,792,244 (GRCm39)	missense	probably damaging	0.98
R8115:A1bg	UTSW	15	60,791,996 (GRCm39)	missense	probably benign	0.18
R8213:A1bg	UTSW	15	60,791,605 (GRCm39)	missense	probably damaging	1.00
R9124:A1bg	UTSW	15	60,792,679 (GRCm39)	missense	possibly damaging	0.78
Z1177:A1bg	UTSW	15	60,789,923 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CCAAGGCTAAGTGGGCTCAATAC -3'
(R):5'- CCCACTCTGTGTTTGATGGG -3'

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

Posted On

2018-10-18