Incidental Mutation 'IGL03356:A1bg'
ID |
419953 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
A1bg
|
Ensembl Gene |
ENSMUSG00000022347 |
Gene Name |
alpha-1-B glycoprotein |
Synonyms |
C44 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
IGL03356
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
60789438-60793119 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 60791737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 233
(M233R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096418]
[ENSMUST00000228632]
|
AlphaFold |
Q19LI2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096418
AA Change: M233R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000094151 Gene: ENSMUSG00000022347 AA Change: M233R
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
C |
8: 60,984,725 (GRCm39) |
M256T |
probably damaging |
Het |
Adamts16 |
T |
C |
13: 70,901,410 (GRCm39) |
N889S |
probably benign |
Het |
Camkk2 |
A |
T |
5: 122,881,937 (GRCm39) |
I235N |
probably damaging |
Het |
Card6 |
C |
T |
15: 5,129,723 (GRCm39) |
A558T |
probably benign |
Het |
Ccdc175 |
T |
G |
12: 72,186,667 (GRCm39) |
|
probably null |
Het |
Crot |
A |
G |
5: 9,038,295 (GRCm39) |
|
probably benign |
Het |
Cyp2c67 |
A |
G |
19: 39,628,405 (GRCm39) |
S180P |
probably damaging |
Het |
Ddx55 |
A |
G |
5: 124,692,816 (GRCm39) |
N81S |
possibly damaging |
Het |
Dennd3 |
C |
T |
15: 73,440,482 (GRCm39) |
T1171M |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
Dpp8 |
T |
A |
9: 64,953,069 (GRCm39) |
N248K |
probably benign |
Het |
Ganc |
T |
C |
2: 120,265,769 (GRCm39) |
I439T |
probably benign |
Het |
Gdpgp1 |
T |
C |
7: 79,888,443 (GRCm39) |
I158T |
possibly damaging |
Het |
Grm3 |
T |
C |
5: 9,562,206 (GRCm39) |
D548G |
possibly damaging |
Het |
H2-DMb1 |
T |
A |
17: 34,376,514 (GRCm39) |
|
probably benign |
Het |
Hecw2 |
A |
G |
1: 53,966,217 (GRCm39) |
|
probably benign |
Het |
Hs3st2 |
A |
G |
7: 120,992,389 (GRCm39) |
E113G |
probably damaging |
Het |
Hspa4 |
C |
A |
11: 53,160,627 (GRCm39) |
R483L |
probably damaging |
Het |
Ik |
C |
A |
18: 36,889,657 (GRCm39) |
S490R |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,072,035 (GRCm39) |
V86M |
possibly damaging |
Het |
Mfsd4b1 |
A |
C |
10: 39,878,827 (GRCm39) |
F357V |
probably damaging |
Het |
Ndufa9 |
A |
G |
6: 126,821,813 (GRCm39) |
V54A |
possibly damaging |
Het |
Nfe2l2 |
A |
G |
2: 75,509,544 (GRCm39) |
I92T |
probably benign |
Het |
Oas1a |
A |
G |
5: 121,043,908 (GRCm39) |
S75P |
probably damaging |
Het |
Oca2 |
T |
G |
7: 56,185,716 (GRCm39) |
M814R |
probably benign |
Het |
Phlpp2 |
A |
G |
8: 110,662,249 (GRCm39) |
T879A |
probably benign |
Het |
Potefam3e |
A |
G |
8: 19,799,463 (GRCm39) |
I304V |
probably benign |
Het |
Rpe65 |
A |
T |
3: 159,321,214 (GRCm39) |
Y342F |
possibly damaging |
Het |
Satb2 |
T |
C |
1: 56,930,333 (GRCm39) |
K230R |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,270,342 (GRCm39) |
T297A |
probably benign |
Het |
Slpi |
T |
C |
2: 164,198,129 (GRCm39) |
T22A |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
Synj1 |
A |
G |
16: 90,784,280 (GRCm39) |
F286S |
probably damaging |
Het |
Tektl1 |
A |
G |
10: 78,582,966 (GRCm39) |
C473R |
possibly damaging |
Het |
Tigd2 |
T |
A |
6: 59,188,690 (GRCm39) |
I519K |
probably benign |
Het |
Tyr |
G |
T |
7: 87,141,922 (GRCm39) |
L136I |
possibly damaging |
Het |
Vmn1r34 |
A |
T |
6: 66,613,970 (GRCm39) |
M256K |
probably benign |
Het |
Zmym2 |
T |
A |
14: 57,194,517 (GRCm39) |
C1258* |
probably null |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |