Mutagenetix > Incidental Mutation

Incidental Mutation 'R4212:A1bg'

319271

Institutional Source

Beutler Lab

Gene Symbol

A1bg

Ensembl Gene

ENSMUSG00000022347

Gene Name

alpha-1-B glycoprotein

Synonyms

C44

MMRRC Submission

041641-MU

Accession Numbers

Essential gene?

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

Stock #

R4212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60789438-60793119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 60791585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 284 (L284M)

Ref Sequence

ENSEMBL: ENSMUSP00000094151 (fasta)

Gene Model

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

AlphaFold

Q19LI2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096418
AA Change: L284M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094151
Gene: ENSMUSG00000022347
AA Change: L284M

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

possibly damaging
Transcript: ENSMUST00000228632
AA Change: L91M

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228929

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,817,470 (GRCm39)	V536A	probably damaging	Het
Arsi	A	T	18: 61,049,773 (GRCm39)	I219F	probably damaging	Het
Atg7	G	A	6: 114,680,386 (GRCm39)	G447E	probably benign	Het
Bdp1	T	A	13: 100,196,093 (GRCm39)	H1223L	probably benign	Het
Cep152	A	G	2: 125,461,921 (GRCm39)	M87T	probably benign	Het
Chrm3	T	C	13: 9,927,791 (GRCm39)	D415G	probably benign	Het
Chrnb2	A	T	3: 89,668,851 (GRCm39)	C155S	probably damaging	Het
Col6a4	T	A	9: 105,952,569 (GRCm39)	Q443L	probably benign	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
D5Ertd579e	A	T	5: 36,771,823 (GRCm39)	D857E	probably damaging	Het
Efcab6	T	C	15: 83,777,064 (GRCm39)	D1124G	probably damaging	Het
F830045P16Rik	C	T	2: 129,302,273 (GRCm39)	A440T	probably benign	Het
Gc	T	C	5: 89,583,434 (GRCm39)	K370E	probably benign	Het
Gm11559	A	G	11: 99,755,726 (GRCm39)	Q125R	unknown	Het
Gm3985	A	T	8: 33,432,484 (GRCm39)		noncoding transcript	Het
Gucy2e	A	G	11: 69,118,949 (GRCm39)	F681S	probably damaging	Het
Hip1r	A	G	5: 124,137,953 (GRCm39)	I760V	probably benign	Het
Islr2	C	T	9: 58,106,603 (GRCm39)	G219D	probably damaging	Het
Itgae	A	G	11: 73,010,178 (GRCm39)	H556R	probably benign	Het
Jag1	T	C	2: 136,926,990 (GRCm39)	D923G	probably benign	Het
Kmt2c	A	G	5: 25,552,357 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,742,884 (GRCm39)		probably benign	Het
Krtap17-1	A	G	11: 99,884,740 (GRCm39)	L9P	unknown	Het
Lats2	C	T	14: 57,933,712 (GRCm39)	D802N	possibly damaging	Het
Lrfn5	A	T	12: 61,890,606 (GRCm39)	T632S	probably benign	Het
Myo9a	C	T	9: 59,813,349 (GRCm39)	R2183*	probably null	Het
Myorg	T	C	4: 41,498,307 (GRCm39)	E441G	probably benign	Het
Naip1	T	C	13: 100,563,383 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,360,624 (GRCm39)	V1434E	probably damaging	Het
Nlrc4	T	C	17: 74,754,110 (GRCm39)	Y91C	possibly damaging	Het
Or4l1	A	T	14: 50,166,346 (GRCm39)	Y218*	probably null	Het
Or5b102	T	G	19: 13,041,123 (GRCm39)	M116R	probably damaging	Het
Or5k1	T	A	16: 58,617,732 (GRCm39)	H159L	possibly damaging	Het
Pard3	T	A	8: 128,336,939 (GRCm39)	I1143K	probably benign	Het
Pcdha7	A	G	18: 37,108,027 (GRCm39)	T351A	probably benign	Het
Phf2	C	A	13: 48,974,089 (GRCm39)	G318V	unknown	Het
Plch1	T	A	3: 63,778,180 (GRCm39)		probably benign	Het
Polr1c	A	G	17: 46,557,046 (GRCm39)	I79T	probably damaging	Het
Ppp2r5e	A	G	12: 75,516,325 (GRCm39)	I244T	probably damaging	Het
Psmd12	T	C	11: 107,376,585 (GRCm39)	C74R	probably damaging	Het
Qng1	C	T	13: 58,529,805 (GRCm39)	G269E	probably damaging	Het
Ralgapa1	A	G	12: 55,786,115 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,333,194 (GRCm39)	G781D	probably damaging	Het
Scn8a	T	C	15: 100,854,954 (GRCm39)	V147A	possibly damaging	Het
Sema3b	C	T	9: 107,480,597 (GRCm39)	V117M	probably damaging	Het
Sfxn5	A	T	6: 85,309,288 (GRCm39)	L139*	probably null	Het
Slc2a12	A	T	10: 22,577,993 (GRCm39)	K596N	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Spata31e4	C	T	13: 50,854,388 (GRCm39)	T82I	possibly damaging	Het
Tlr4	T	A	4: 66,758,563 (GRCm39)	I452N	probably damaging	Het
Tshz3	A	G	7: 36,469,544 (GRCm39)	D511G	probably damaging	Het
Usp44	A	G	10: 93,682,632 (GRCm39)	K314E	possibly 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
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
R6870:A1bg	UTSW	15	60,791,564 (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'- AGGCTAAGTGGGCTCAATACG -3'
(R):5'- CCACCCACTCTGTGTTTGATGG -3'

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

Posted On

2015-06-10