Incidental Mutation 'R5404:A1bg'
| ID |
428642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A1bg
|
| Ensembl Gene |
ENSMUSG00000022347 |
| Gene Name |
alpha-1-B glycoprotein |
| Synonyms |
C44 |
| MMRRC Submission |
042975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
60789438-60793119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60791545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 297
(H297R)
|
| 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: H297R
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000094151
Gene: ENSMUSG00000022347
AA Change: H297R
| 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: H104R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228929
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccnk |
A |
T |
12: 108,161,882 (GRCm39) |
K262N |
possibly damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,158,308 (GRCm39) |
Y58F |
probably benign |
Het |
| Cp |
A |
C |
3: 20,043,292 (GRCm39) |
T1027P |
possibly damaging |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Cry1 |
T |
C |
10: 85,020,283 (GRCm39) |
N18S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,481,630 (GRCm39) |
|
probably benign |
Het |
| Fance |
A |
T |
17: 28,537,034 (GRCm39) |
R58W |
probably null |
Het |
| Fermt1 |
T |
C |
2: 132,776,789 (GRCm39) |
D233G |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,657,351 (GRCm39) |
Y409N |
probably damaging |
Het |
| Gpr162 |
A |
G |
6: 124,838,606 (GRCm39) |
S15P |
possibly damaging |
Het |
| Grid2 |
T |
A |
6: 63,907,894 (GRCm39) |
I178N |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,446,063 (GRCm39) |
V233A |
probably benign |
Het |
| Lemd3 |
G |
A |
10: 120,767,863 (GRCm39) |
Q672* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
| Nedd1 |
C |
T |
10: 92,552,054 (GRCm39) |
V69I |
probably benign |
Het |
| Nfil3 |
G |
A |
13: 53,122,091 (GRCm39) |
S271F |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,356 (GRCm39) |
L280P |
possibly damaging |
Het |
| Or2n1e |
T |
A |
17: 38,586,517 (GRCm39) |
L285* |
probably null |
Het |
| Or4p20 |
C |
T |
2: 88,254,145 (GRCm39) |
V75M |
probably damaging |
Het |
| Or51a25 |
T |
A |
7: 102,372,807 (GRCm39) |
I297F |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,503 (GRCm39) |
S503P |
probably benign |
Het |
| Rbm5 |
T |
C |
9: 107,642,752 (GRCm39) |
E94G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Rps6ka5 |
T |
C |
12: 100,582,352 (GRCm39) |
I173M |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,951,488 (GRCm39) |
L223P |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,806,131 (GRCm39) |
K213E |
probably damaging |
Het |
| Spem1 |
T |
A |
11: 69,711,763 (GRCm39) |
K300N |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,354,982 (GRCm39) |
E1474G |
unknown |
Het |
| Tenm4 |
A |
T |
7: 96,543,887 (GRCm39) |
R1968W |
probably damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,240 (GRCm39) |
M279L |
probably benign |
Het |
| Tuba3a |
G |
T |
6: 125,258,555 (GRCm39) |
T145K |
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 |
|
|
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 |
|
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 |
2016-09-06 |
Incidental Mutation