Incidental Mutation 'R6890:Ambp'
ID |
537146 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ambp
|
Ensembl Gene |
ENSMUSG00000028356 |
Gene Name |
alpha 1 microglobulin/bikunin precursor |
Synonyms |
ulinastatin, ASPI, Intin4, UTI, Urinary Trypsin Inhibitor, Itil, HI-30 |
MMRRC Submission |
044984-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R6890 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
63061512-63072409 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 63068596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 140
(H140Q)
|
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: H140Q
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000030041 Gene: ENSMUSG00000028356 AA Change: H140Q
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (39/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGAATTCTACTTCACCCAGGATG -3'
(R):5'- ATGGATGTGGACACGCTGAG -3'
Sequencing Primer
(F):5'- ATGCTGAGCTATTCAAGGCC -3'
(R):5'- CACGCTGAGTGGAGGATG -3'
|
Posted On |
2018-10-18 |