Incidental Mutation 'R5553:A1bg'
| ID |
435236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A1bg
|
| Ensembl Gene |
ENSMUSG00000022347 |
| Gene Name |
alpha-1-B glycoprotein |
| Synonyms |
C44 |
| MMRRC Submission |
043110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5553 (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 A
at 60792690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 86
(I86F)
|
| 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: I86F
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000094151
Gene: ENSMUSG00000022347
AA Change: I86F
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,278,158 (GRCm39) |
L3113F |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Ano8 |
T |
A |
8: 71,937,641 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
T |
17: 5,364,152 (GRCm39) |
S1041C |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,987,620 (GRCm39) |
|
probably benign |
Het |
| Cbr3 |
A |
G |
16: 93,480,451 (GRCm39) |
E80G |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 17,605,875 (GRCm39) |
E271G |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,868,309 (GRCm39) |
K658N |
possibly damaging |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Dppa1 |
T |
A |
11: 46,503,861 (GRCm39) |
|
probably null |
Het |
| Fen1 |
T |
C |
19: 10,177,787 (GRCm39) |
N219S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,793,090 (GRCm39) |
T416A |
probably benign |
Het |
| Gm14393 |
A |
T |
2: 174,903,639 (GRCm39) |
C89* |
probably null |
Het |
| Grin2c |
C |
T |
11: 115,143,551 (GRCm39) |
M736I |
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,060,780 (GRCm39) |
|
probably null |
Het |
| Hspbap1 |
G |
T |
16: 35,621,967 (GRCm39) |
W104L |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,895,622 (GRCm39) |
G1648E |
probably damaging |
Het |
| Irf4 |
A |
G |
13: 30,935,811 (GRCm39) |
Y122C |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,960,776 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
C |
T |
1: 151,592,986 (GRCm39) |
T557M |
probably damaging |
Het |
| Nubpl |
T |
A |
12: 52,228,082 (GRCm39) |
L169M |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,604 (GRCm39) |
S1200P |
possibly damaging |
Het |
| Or1j20 |
A |
G |
2: 36,760,477 (GRCm39) |
I300V |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,478 (GRCm39) |
S201T |
probably benign |
Het |
| Parp14 |
G |
T |
16: 35,677,306 (GRCm39) |
H887Q |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,980,637 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
T |
C |
5: 128,822,565 (GRCm39) |
M392T |
probably benign |
Het |
| Plekhm3 |
T |
C |
1: 64,961,045 (GRCm39) |
S404G |
possibly damaging |
Het |
| Prelid3a |
T |
C |
18: 67,610,093 (GRCm39) |
L141P |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,186,090 (GRCm39) |
V1715E |
probably damaging |
Het |
| Rc3h2 |
G |
A |
2: 37,288,323 (GRCm39) |
R420* |
probably null |
Het |
| Selenon |
C |
A |
4: 134,268,228 (GRCm39) |
R435L |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,705,791 (GRCm39) |
L425P |
probably damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,502,947 (GRCm39) |
|
probably null |
Het |
| Slc9a5 |
T |
C |
8: 106,083,672 (GRCm39) |
V404A |
probably damaging |
Het |
| Ssc5d |
A |
T |
7: 4,939,289 (GRCm39) |
D575V |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,721,940 (GRCm39) |
|
probably null |
Het |
| Vmn2r100 |
A |
G |
17: 19,725,110 (GRCm39) |
Q13R |
possibly damaging |
Het |
| Wfikkn1 |
T |
A |
17: 26,097,468 (GRCm39) |
L285F |
possibly damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,247,927 (GRCm39) |
|
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 |
|
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 |
|
R5404:A1bg
|
UTSW |
15 |
60,791,545 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- GTGGATCGAAGCTTCTCCATC -3'
(R):5'- AATGGCCTATGGGTTACGGG -3'
Sequencing Primer
(F):5'- GGATCGAAGCTTCTCCATCTATTTTC -3'
(R):5'- TTCTGGCAGTGAACCTAAACTATGGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation