Incidental Mutation 'R4543:A1bg'
ID |
333637 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
A1bg
|
Ensembl Gene |
ENSMUSG00000022347 |
Gene Name |
alpha-1-B glycoprotein |
Synonyms |
C44 |
MMRRC Submission |
041778-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4543 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
60789438-60793119 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 60789749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 500
(S500T)
|
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: S500T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000094151 Gene: ENSMUSG00000022347 AA Change: S500T
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
|
Meta Mutation Damage Score |
0.1846 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
94% (44/47) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
C |
18: 10,706,672 (GRCm39) |
D2G |
possibly damaging |
Het |
Ablim1 |
C |
T |
19: 57,065,874 (GRCm39) |
R366H |
possibly damaging |
Het |
Adgre1 |
T |
A |
17: 57,713,874 (GRCm39) |
H186Q |
probably benign |
Het |
Ankmy1 |
G |
T |
1: 92,812,572 (GRCm39) |
A579E |
probably damaging |
Het |
Ap2b1 |
C |
A |
11: 83,215,476 (GRCm39) |
T140K |
probably damaging |
Het |
Arhgef28 |
T |
A |
13: 98,211,508 (GRCm39) |
E158D |
probably benign |
Het |
Atp8b4 |
A |
G |
2: 126,199,986 (GRCm39) |
F885L |
probably damaging |
Het |
Barx2 |
A |
G |
9: 31,758,092 (GRCm39) |
L282S |
unknown |
Het |
Catsper2 |
C |
T |
2: 121,237,890 (GRCm39) |
W163* |
probably null |
Het |
Cep295 |
T |
C |
9: 15,246,549 (GRCm39) |
T588A |
possibly damaging |
Het |
Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,452,749 (GRCm39) |
Q578L |
probably damaging |
Het |
Crp |
A |
C |
1: 172,526,304 (GRCm39) |
I130L |
probably benign |
Het |
Dtwd2 |
C |
A |
18: 49,857,175 (GRCm39) |
|
probably null |
Het |
Fads3 |
T |
C |
19: 10,019,175 (GRCm39) |
F27S |
possibly damaging |
Het |
Gm3604 |
T |
C |
13: 62,517,970 (GRCm39) |
D109G |
probably benign |
Het |
Gtf2ird1 |
A |
G |
5: 134,392,754 (GRCm39) |
|
probably null |
Het |
H2-K2 |
C |
T |
17: 34,218,532 (GRCm39) |
|
probably null |
Het |
Hdac5 |
T |
C |
11: 102,104,770 (GRCm39) |
|
probably benign |
Het |
Il6st |
G |
A |
13: 112,617,993 (GRCm39) |
V136M |
probably damaging |
Het |
Immt |
T |
C |
6: 71,828,762 (GRCm39) |
S106P |
probably damaging |
Het |
Kat2b |
T |
C |
17: 53,960,168 (GRCm39) |
I492T |
probably benign |
Het |
Kcnn2 |
T |
C |
18: 45,692,715 (GRCm39) |
F97S |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,248,997 (GRCm39) |
I84V |
probably benign |
Het |
Kif7 |
G |
A |
7: 79,357,296 (GRCm39) |
P637S |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,604,851 (GRCm39) |
I109K |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,998,929 (GRCm39) |
C619S |
probably damaging |
Het |
Mgat4f |
T |
A |
1: 134,317,531 (GRCm39) |
M101K |
probably benign |
Het |
Or8g51 |
A |
G |
9: 38,608,841 (GRCm39) |
S274P |
possibly damaging |
Het |
Polq |
T |
C |
16: 36,881,147 (GRCm39) |
C1104R |
probably benign |
Het |
Rbfox2 |
A |
T |
15: 77,190,568 (GRCm39) |
M59K |
probably benign |
Het |
Rft1 |
T |
C |
14: 30,383,290 (GRCm39) |
V110A |
probably benign |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
Slc2a12 |
T |
A |
10: 22,540,685 (GRCm39) |
V180D |
probably damaging |
Het |
Sox21 |
CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC |
CCAGCGGCGGCGGCGGCAGCGGC |
14: 118,472,548 (GRCm39) |
|
probably benign |
Het |
Stap2 |
C |
T |
17: 56,304,604 (GRCm39) |
|
probably null |
Het |
Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,582,041 (GRCm39) |
T419A |
probably benign |
Het |
Tmprss11a |
G |
A |
5: 86,559,668 (GRCm39) |
Q375* |
probably null |
Het |
Trav12-3 |
CTCTG |
CTCTGTCTG |
14: 53,859,693 (GRCm39) |
|
probably null |
Het |
Vmn1r88 |
T |
A |
7: 12,911,907 (GRCm39) |
S88T |
possibly damaging |
Het |
Zfp622 |
T |
A |
15: 25,991,623 (GRCm39) |
D143E |
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 |
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'- GTGTCTGCAGCCACATTAGC -3'
(R):5'- GGGTCAGGAAGCCATCTTTC -3'
Sequencing Primer
(F):5'- AGCCACATTAGCGGCCTAG -3'
(R):5'- AGGAAGCCATCTTTCGATGC -3'
|
Posted On |
2015-08-18 |