Incidental Mutation 'IGL01646:Ambp'
| ID |
102661 |
| 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: 0.147)
|
| Stock # |
IGL01646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63061512-63072409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63066977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 188
(V188I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030041]
[ENSMUST00000142901]
|
| AlphaFold |
Q07456 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030041
AA Change: V188I
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000030041
Gene: ENSMUSG00000028356
AA Change: V188I
| 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: ENSMUST00000142901
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
G |
T |
9: 22,582,221 (GRCm39) |
E638* |
probably null |
Het |
| Bmp6 |
A |
G |
13: 38,682,904 (GRCm39) |
M465V |
probably damaging |
Het |
| Ccdc192 |
T |
A |
18: 57,800,417 (GRCm39) |
C171* |
probably null |
Het |
| Cemip |
T |
C |
7: 83,632,440 (GRCm39) |
E374G |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,895,141 (GRCm39) |
Y200* |
probably null |
Het |
| Cox6b1 |
G |
T |
7: 30,323,929 (GRCm39) |
Y34* |
probably null |
Het |
| Cyp2d26 |
A |
C |
15: 82,675,619 (GRCm39) |
I303M |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 38,026,469 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
T |
C |
5: 104,359,731 (GRCm39) |
S136P |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,832,877 (GRCm39) |
T241A |
probably damaging |
Het |
| Erap1 |
C |
A |
13: 74,814,291 (GRCm39) |
T25K |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,906,007 (GRCm39) |
E3137G |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,179,844 (GRCm39) |
|
probably null |
Het |
| Gldc |
T |
G |
19: 30,078,165 (GRCm39) |
D944A |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,689,267 (GRCm39) |
Y546C |
probably damaging |
Het |
| Igkv1-122 |
G |
A |
6: 67,993,728 (GRCm39) |
M1I |
probably null |
Het |
| Jag2 |
G |
A |
12: 112,879,969 (GRCm39) |
P380S |
possibly damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,108,311 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
C |
9: 44,736,781 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,022,333 (GRCm39) |
V286A |
probably damaging |
Het |
| Mllt10 |
C |
A |
2: 18,127,128 (GRCm39) |
H82N |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,039,639 (GRCm39) |
R837L |
probably damaging |
Het |
| Nsg1 |
C |
A |
5: 38,313,035 (GRCm39) |
D55Y |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,617,247 (GRCm39) |
R221M |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,837,583 (GRCm39) |
A1213D |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,885,665 (GRCm39) |
G174S |
probably damaging |
Het |
| Papss2 |
C |
T |
19: 32,629,482 (GRCm39) |
A357V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,881 (GRCm39) |
K4118R |
unknown |
Het |
| Pde2a |
T |
C |
7: 101,156,918 (GRCm39) |
I628T |
possibly damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,325,708 (GRCm39) |
W521R |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,153,813 (GRCm39) |
Q744L |
probably damaging |
Het |
| Pnpo |
T |
A |
11: 96,829,775 (GRCm39) |
E251V |
possibly damaging |
Het |
| Rdh10 |
C |
T |
1: 16,178,246 (GRCm39) |
H173Y |
possibly damaging |
Het |
| Sgpp2 |
A |
T |
1: 78,393,533 (GRCm39) |
I179F |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,423,899 (GRCm39) |
P409L |
probably damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,135,364 (GRCm39) |
N316I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,064,148 (GRCm39) |
I712V |
probably benign |
Het |
| Spr |
T |
C |
6: 85,111,222 (GRCm39) |
D216G |
possibly damaging |
Het |
| Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
| Tas2r124 |
T |
C |
6: 132,732,332 (GRCm39) |
S214P |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,549,936 (GRCm39) |
S233T |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,269,279 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,337 (GRCm39) |
F317S |
probably benign |
Het |
| Vmn2r99 |
C |
A |
17: 19,613,920 (GRCm39) |
|
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,331 (GRCm39) |
E156G |
probably benign |
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 |
|
IGL00769:Ambp
|
APN |
4 |
63,062,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01400:Ambp
|
APN |
4 |
63,070,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation