Incidental Mutation 'IGL00769:Ambp'
| ID |
8813 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ambp
|
| Ensembl Gene |
ENSMUSG00000028356 |
| Gene Name |
alpha 1 microglobulin/bikunin precursor |
| Synonyms |
ulinastatin, ASPI, Intin4, UTI, Urinary Trypsin Inhibitor, Itil, HI-30 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
IGL00769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63061512-63072409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63062402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 279
(T279I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030041]
[ENSMUST00000107415]
|
| AlphaFold |
Q07456 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030041
AA Change: T279I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030041
Gene: ENSMUSG00000028356
AA Change: T279I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
40 |
185 |
4.4e-32 |
PFAM |
|
KU
|
228 |
281 |
1.55e-20 |
SMART |
|
KU
|
284 |
337 |
4.58e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107415
|
| SMART Domains |
Protein: ENSMUSP00000103038
Gene: ENSMUSG00000028358
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
146 |
168 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
255 |
277 |
2.91e-2 |
SMART |
|
low complexity region
|
381 |
388 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
391 |
413 |
2.53e-2 |
SMART |
|
PDB:2BW3|A
|
479 |
783 |
9e-8 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a fusion protein that undergoes proteolytic processing to generate two mature proteins: alpha-1-microglobulin (A1m) is a heme-binding plasma glycoprotein of the lipocalin superfamily of proteins that bind to hydrophobic molecules, whereas bikunin belongs to the superfamily of Kunitz-type protease inhibitors. The transgenic mice specifically lacking bikunin, but not A1m, exhibit female infertility and an increased sensitivity to lung metastasis. [provided by RefSeq, Oct 2015]
PHENOTYPE: Female homozygotes for targeted null mutations exhibit reduced ovulation rates, oocytes lacking a zona pellucida, and a very low fertilization rate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,039 (GRCm39) |
V516A |
possibly damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,465,322 (GRCm39) |
V285A |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,536,352 (GRCm39) |
S220P |
probably benign |
Het |
| Atp9b |
G |
T |
18: 80,956,068 (GRCm39) |
H129N |
probably benign |
Het |
| Cdh10 |
C |
A |
15: 18,985,185 (GRCm39) |
P283Q |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,237,440 (GRCm39) |
S1941P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,684,230 (GRCm39) |
S575R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,267,715 (GRCm39) |
N796S |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,649,343 (GRCm39) |
Y284F |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,377,786 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 140,907,760 (GRCm39) |
T140M |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,770,116 (GRCm39) |
E303K |
probably benign |
Het |
| Minar2 |
T |
C |
18: 59,205,349 (GRCm39) |
S88P |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
| Msl3 |
T |
A |
X: 167,451,744 (GRCm39) |
E215V |
probably damaging |
Het |
| Pglyrp3 |
A |
T |
3: 91,921,929 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,361,331 (GRCm39) |
|
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,325,100 (GRCm39) |
D602G |
probably damaging |
Het |
| Slc4a1ap |
T |
G |
5: 31,711,121 (GRCm39) |
Y742D |
probably damaging |
Het |
| Spmap1 |
A |
G |
11: 97,662,407 (GRCm39) |
F155S |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,772 (GRCm39) |
P193S |
probably damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,804,081 (GRCm39) |
V252M |
probably benign |
Het |
| Wdr53 |
G |
A |
16: 32,075,315 (GRCm39) |
W173* |
probably null |
Het |
|
| Other mutations in Ambp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Ambp
|
APN |
4 |
63,072,255 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01400:Ambp
|
APN |
4 |
63,070,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01646:Ambp
|
APN |
4 |
63,066,977 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02338:Ambp
|
APN |
4 |
63,061,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Ambp
|
APN |
4 |
63,072,169 (GRCm39) |
splice site |
probably benign |
|
|
PIT4131001:Ambp
|
UTSW |
4 |
63,062,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Ambp
|
UTSW |
4 |
63,072,298 (GRCm39) |
start gained |
probably benign |
|
|
R0885:Ambp
|
UTSW |
4 |
63,069,705 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1725:Ambp
|
UTSW |
4 |
63,062,513 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1999:Ambp
|
UTSW |
4 |
63,067,666 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2023:Ambp
|
UTSW |
4 |
63,069,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Ambp
|
UTSW |
4 |
63,061,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3436:Ambp
|
UTSW |
4 |
63,067,721 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3437:Ambp
|
UTSW |
4 |
63,067,721 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4078:Ambp
|
UTSW |
4 |
63,068,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4409:Ambp
|
UTSW |
4 |
63,070,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Ambp
|
UTSW |
4 |
63,070,888 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6738:Ambp
|
UTSW |
4 |
63,067,711 (GRCm39) |
missense |
probably benign |
|
|
R6818:Ambp
|
UTSW |
4 |
63,072,243 (GRCm39) |
nonsense |
probably null |
|
|
R6890:Ambp
|
UTSW |
4 |
63,068,596 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7934:Ambp
|
UTSW |
4 |
63,067,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Ambp
|
UTSW |
4 |
63,062,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8671:Ambp
|
UTSW |
4 |
63,068,656 (GRCm39) |
nonsense |
probably null |
|
|
R8969:Ambp
|
UTSW |
4 |
63,072,328 (GRCm39) |
start gained |
probably benign |
|
|
X0057:Ambp
|
UTSW |
4 |
63,067,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation