Incidental Mutation 'IGL01622:A1bg'
ID278638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A1bg
Ensembl Gene ENSMUSG00000022347
Gene Namealpha-1-B glycoprotein
SynonymsC44
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL01622
Quality Score
Status
Chromosome15
Chromosomal Location60896859-60923012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 60917893 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 502 (I502S)
Ref Sequence ENSEMBL: ENSMUSP00000094151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096418] [ENSMUST00000228632]
Predicted Effect possibly damaging
Transcript: ENSMUST00000096418
AA Change: I502S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094151
Gene: ENSMUSG00000022347
AA Change: I502S

DomainStartEndE-ValueType
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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,810,067 Q184* probably null Het
Actl11 T C 9: 107,928,576 S33P probably benign Het
Aftph G T 11: 20,709,632 D730E probably damaging Het
Arhgap29 A G 3: 121,974,124 probably benign Het
Brf1 T G 12: 112,961,175 E643A probably benign Het
Caskin1 G T 17: 24,503,940 probably null Het
Ccnjl T C 11: 43,585,327 V259A probably benign Het
Ccser2 G T 14: 36,940,963 T88K probably benign Het
Cdk17 T C 10: 93,238,962 probably benign Het
Clec16a G A 16: 10,577,910 S309N possibly damaging Het
Cpxm1 C A 2: 130,391,271 A633S probably benign Het
Ctnnbl1 A T 2: 157,819,548 N326I probably damaging Het
Cyp46a1 T C 12: 108,351,975 V215A possibly damaging Het
Daxx A G 17: 33,913,480 D528G probably benign Het
Dnah6 T C 6: 73,144,718 Y1427C probably damaging Het
Dpy19l3 G A 7: 35,722,744 T228I probably damaging Het
Fam131c C T 4: 141,382,450 A131V possibly damaging Het
Fam71e2 A G 7: 4,758,723 V330A probably benign Het
Fat1 A G 8: 45,029,555 T3061A possibly damaging Het
Fgl2 T A 5: 21,373,177 L154H possibly damaging Het
Fhod3 T A 18: 25,022,867 I514K probably benign Het
Ficd G A 5: 113,738,561 G266S probably damaging Het
Frem3 A G 8: 80,613,915 T946A probably benign Het
Gan T A 8: 117,187,178 V105D probably damaging Het
Gramd1c A G 16: 43,990,698 V221A probably damaging Het
Hacd1 A G 2: 14,035,856 V196A probably benign Het
Kcna6 C A 6: 126,738,613 V438L probably damaging Het
Kif14 T C 1: 136,497,356 probably benign Het
Klhl41 T C 2: 69,678,238 V512A probably benign Het
Lrfn1 A G 7: 28,466,686 T502A probably damaging Het
Notch3 A T 17: 32,158,870 F105I possibly damaging Het
Olfr1023 A T 2: 85,886,962 H54L probably benign Het
Olfr142 T G 2: 90,252,609 K126N probably damaging Het
P3h1 C T 4: 119,235,283 T171I probably damaging Het
Pcdhb1 A G 18: 37,266,313 E439G possibly damaging Het
Pik3c3 A T 18: 30,290,525 K225* probably null Het
Pik3c3 A G 18: 30,293,049 probably benign Het
Pik3r5 T A 11: 68,486,626 probably null Het
Pnpt1 A C 11: 29,148,272 probably benign Het
Ppp2r1b T A 9: 50,878,122 V495D probably damaging Het
Rbfox3 C A 11: 118,505,614 probably benign Het
Sec14l2 G A 11: 4,103,966 P234S possibly damaging Het
Sec16a A C 2: 26,438,903 D1033E probably benign Het
Sept14 A G 5: 129,685,955 V357A probably damaging Het
Sf3a3 C T 4: 124,718,343 T131I possibly damaging Het
Snrpa A T 7: 27,192,970 M55K probably benign Het
Swt1 G T 1: 151,411,009 T244N probably benign Het
Tbl1xr1 A G 3: 22,192,074 T253A probably benign Het
Tst G T 15: 78,399,764 R288S probably benign Het
Vmn2r60 A G 7: 42,136,486 I238V probably benign Het
Zbtb14 A G 17: 69,388,189 K294R probably benign Het
Zfp710 T A 7: 80,081,123 V16E probably damaging Het
Zfpm2 A G 15: 41,101,924 T602A probably benign Het
Zfr2 G A 10: 81,251,359 M850I probably benign Het
Other mutations in A1bg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:A1bg APN 15 60921253 missense probably damaging 0.98
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
R8213:A1bg UTSW 15 60919756 missense probably damaging 1.00
Z1177:A1bg UTSW 15 60918074 missense possibly damaging 0.76
Posted On2015-04-16