Incidental Mutation 'PIT4791001:Ambp'
ID |
556963 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
PIT4791001 (G1)
|
Quality Score |
184.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
63061512-63072409 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
T to A
at 63072298 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030041]
[ENSMUST00000142901]
|
AlphaFold |
Q07456 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030041
|
SMART Domains |
Protein: ENSMUSP00000030041 Gene: ENSMUSG00000028356
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: 93.5%
- 3x: 90.8%
- 10x: 83.3%
- 20x: 68.6%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
G |
A |
15: 72,993,089 (GRCm39) |
T472I |
possibly damaging |
Het |
As3mt |
T |
A |
19: 46,708,788 (GRCm39) |
F261I |
probably damaging |
Het |
Atxn1l |
A |
G |
8: 110,458,579 (GRCm39) |
L561P |
probably damaging |
Het |
Cnr2 |
A |
G |
4: 135,644,263 (GRCm39) |
T114A |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,408,178 (GRCm39) |
Y1885H |
probably damaging |
Het |
Dcn |
A |
G |
10: 97,343,604 (GRCm39) |
N188S |
probably benign |
Het |
Dennd6b |
A |
C |
15: 89,070,955 (GRCm39) |
|
probably null |
Het |
Dstyk |
A |
G |
1: 132,377,665 (GRCm39) |
T424A |
probably benign |
Het |
Gabrr3 |
A |
G |
16: 59,250,298 (GRCm39) |
|
probably null |
Het |
Gnai3 |
A |
G |
3: 108,025,621 (GRCm39) |
S153P |
probably benign |
Het |
Igkv2-112 |
T |
A |
6: 68,197,599 (GRCm39) |
S90R |
probably damaging |
Het |
Lxn |
T |
C |
3: 67,365,979 (GRCm39) |
D173G |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,342,307 (GRCm39) |
I1600N |
probably damaging |
Het |
Myof |
A |
T |
19: 37,971,406 (GRCm39) |
|
probably null |
Het |
Nrxn1 |
T |
C |
17: 90,762,931 (GRCm39) |
|
probably benign |
Het |
Oaz3 |
A |
G |
3: 94,340,852 (GRCm39) |
Y232H |
unknown |
Het |
Or5aq1b |
A |
T |
2: 86,902,046 (GRCm39) |
M144K |
possibly damaging |
Het |
Pkdcc |
C |
T |
17: 83,527,577 (GRCm39) |
R252* |
probably null |
Het |
Plcl1 |
A |
G |
1: 55,741,090 (GRCm39) |
N907S |
probably benign |
Het |
Plscr1 |
T |
A |
9: 92,145,150 (GRCm39) |
Y53* |
probably null |
Het |
Pm20d2 |
T |
C |
4: 33,174,756 (GRCm39) |
T377A |
probably benign |
Het |
Ptchd3 |
T |
A |
11: 121,722,875 (GRCm39) |
V321D |
probably damaging |
Het |
Ranbp3l |
T |
C |
15: 9,060,829 (GRCm39) |
I366T |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,087,660 (GRCm39) |
E737G |
probably damaging |
Het |
Scart2 |
T |
C |
7: 139,853,975 (GRCm39) |
F326S |
possibly damaging |
Het |
Scn1a |
T |
C |
2: 66,103,626 (GRCm39) |
E1878G |
probably benign |
Het |
Slit3 |
T |
C |
11: 35,552,072 (GRCm39) |
V872A |
possibly damaging |
Het |
Sugp2 |
C |
T |
8: 70,713,195 (GRCm39) |
Q1054* |
probably null |
Het |
Syne3 |
T |
C |
12: 104,929,438 (GRCm39) |
T261A |
probably benign |
Het |
Tgif2 |
T |
C |
2: 156,695,232 (GRCm39) |
S126P |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,319,386 (GRCm39) |
V457A |
possibly damaging |
Het |
Tm7sf2 |
T |
C |
19: 6,113,635 (GRCm39) |
I299V |
probably benign |
Het |
Tnks1bp1 |
A |
G |
2: 84,892,902 (GRCm39) |
E943G |
probably benign |
Het |
Tpd52l2 |
T |
A |
2: 181,141,681 (GRCm39) |
F21L |
probably benign |
Het |
Tpm2 |
A |
G |
4: 43,519,263 (GRCm39) |
L176P |
probably benign |
Het |
Trim34a |
C |
A |
7: 103,909,691 (GRCm39) |
T293K |
probably benign |
Het |
Ttc23 |
A |
T |
7: 67,312,135 (GRCm39) |
D14V |
probably damaging |
Het |
Twsg1 |
T |
C |
17: 66,236,706 (GRCm39) |
E108G |
probably benign |
Het |
Txndc15 |
C |
T |
13: 55,869,507 (GRCm39) |
A220V |
probably benign |
Het |
Vmn1r183 |
A |
G |
7: 23,754,266 (GRCm39) |
Q23R |
probably damaging |
Het |
Vmn1r31 |
A |
G |
6: 58,449,028 (GRCm39) |
V279A |
probably damaging |
Het |
Vmo1 |
A |
C |
11: 70,404,661 (GRCm39) |
C113W |
probably damaging |
Het |
Zfp984 |
A |
G |
4: 147,840,603 (GRCm39) |
S83P |
probably benign |
Het |
Zik1 |
A |
C |
7: 10,226,256 (GRCm39) |
L37R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACTCCCAAGACAGGACAGG -3'
(R):5'- GCTGTAGGGATCGATTAGAGC -3'
Sequencing Primer
(F):5'- ACAGGCAGGCCTTAGCTG -3'
(R):5'- TCGATTAGAGCTGGCCCAAGAC -3'
|
Posted On |
2019-06-07 |