Incidental Mutation 'IGL02338:Ambp'
ID 288941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ambp
Ensembl Gene ENSMUSG00000028356
Gene Name alpha 1 microglobulin/bikunin
Synonyms UTI, Urinary Trypsin Inhibitor, ulinastatin, Itil, HI-30, Intin4, ASPI
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL02338
Quality Score
Status
Chromosome 4
Chromosomal Location 63143275-63154799 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63143697 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 332 (C332S)
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: C332S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030041
Gene: ENSMUSG00000028356
AA Change: C332S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 133,062,549 C367Y possibly damaging Het
AI182371 T A 2: 35,085,716 I279L probably benign Het
App T C 16: 85,173,519 T14A probably benign Het
Asap1 A T 15: 64,123,670 probably null Het
Aurka T C 2: 172,359,858 R242G probably benign Het
BC034090 G A 1: 155,217,471 P747L probably damaging Het
Bcl6b T C 11: 70,229,092 D23G probably damaging Het
Cabp2 A C 19: 4,084,154 E42A possibly damaging Het
Ccdc14 G A 16: 34,721,803 S557N probably benign Het
Ccdc146 G T 5: 21,319,606 probably benign Het
Cenpf T A 1: 189,680,418 Q216L probably damaging Het
Ces1b G A 8: 93,057,047 P515L possibly damaging Het
Col6a5 A T 9: 105,878,630 N2198K probably damaging Het
Csmd2 A G 4: 128,395,066 S1133G possibly damaging Het
Cspg5 G A 9: 110,256,267 R502H probably benign Het
Cyp2g1 A G 7: 26,814,804 probably benign Het
Dnajc27 A G 12: 4,096,229 Y86C probably damaging Het
Dnm1 T C 2: 32,312,771 D715G probably damaging Het
Dock1 G T 7: 135,133,075 L1317F possibly damaging Het
Fanci T A 7: 79,433,531 Y727* probably null Het
Fbxw20 T A 9: 109,225,978 T168S probably benign Het
Folh1 A T 7: 86,736,515 probably benign Het
Gas7 A T 11: 67,682,731 S379C probably damaging Het
Gbp2b A G 3: 142,604,226 E259G probably benign Het
Gm8325 T C 3: 60,877,384 noncoding transcript Het
Gm9268 T C 7: 43,047,736 I739T probably damaging Het
Gpr75 A T 11: 30,891,730 T212S probably benign Het
Itgb4 A G 11: 116,007,969 T1711A probably damaging Het
Ly75 T C 2: 60,354,452 S453G probably benign Het
Maneal A G 4: 124,860,483 probably benign Het
Marco A T 1: 120,494,779 I58N possibly damaging Het
Mtcl1 A G 17: 66,379,970 I647T probably damaging Het
Mtfr1l A T 4: 134,530,743 V56D probably damaging Het
Npy1r G A 8: 66,704,302 V125I probably damaging Het
Olfr348 C T 2: 36,786,545 Q7* probably null Het
Olfr659 T C 7: 104,671,681 probably benign Het
Olfr843 A G 9: 19,248,664 L245P probably damaging Het
Osmr A T 15: 6,837,729 L362* probably null Het
Pdlim2 T C 14: 70,174,457 D42G probably damaging Het
Plcb4 T A 2: 136,000,180 I89N possibly damaging Het
Prrc2b T A 2: 32,214,035 M1175K probably benign Het
Pzp T A 6: 128,486,170 N1423I probably benign Het
Retnla G A 16: 48,844,198 C105Y probably damaging Het
Samd8 T A 14: 21,775,476 S167T possibly damaging Het
Scg2 A G 1: 79,436,493 M171T possibly damaging Het
Slc30a5 A G 13: 100,803,433 V658A probably damaging Het
Slc41a2 T C 10: 83,316,591 R7G possibly damaging Het
Slc44a2 A G 9: 21,347,042 T500A probably damaging Het
Slc44a4 G T 17: 34,923,810 G396V possibly damaging Het
Smarca5 A G 8: 80,719,570 probably benign Het
St8sia6 T A 2: 13,793,345 R34W probably damaging Het
Stk-ps2 T A 1: 46,030,177 noncoding transcript Het
Stn1 T C 19: 47,513,890 Y235C probably damaging Het
Tbx15 A G 3: 99,352,484 Y557C probably damaging Het
Tgfbr1 G A 4: 47,393,490 probably null Het
Thsd7b G T 1: 129,595,771 V181L probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Trpm4 T G 7: 45,326,998 R51S probably damaging Het
Vmn1r91 A T 7: 20,101,746 T197S probably damaging Het
Xrn1 A G 9: 95,977,827 D424G probably benign Het
Yap1 A G 9: 7,962,281 probably null Het
Zer1 T C 2: 30,113,393 D4G probably damaging Het
Zfp462 A T 4: 55,010,292 I753F possibly damaging Het
Other mutations in Ambp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Ambp APN 4 63154018 missense possibly damaging 0.93
IGL00769:Ambp APN 4 63144165 missense probably damaging 0.99
IGL01400:Ambp APN 4 63152722 missense probably damaging 1.00
IGL01646:Ambp APN 4 63148740 missense probably benign 0.04
IGL02796:Ambp APN 4 63153932 splice site probably benign
PIT4131001:Ambp UTSW 4 63144265 missense probably damaging 1.00
PIT4791001:Ambp UTSW 4 63154061 start gained probably benign
R0885:Ambp UTSW 4 63151468 missense probably damaging 0.98
R1725:Ambp UTSW 4 63144276 missense possibly damaging 0.92
R1999:Ambp UTSW 4 63149429 missense possibly damaging 0.63
R2023:Ambp UTSW 4 63151465 missense probably damaging 1.00
R2290:Ambp UTSW 4 63143687 missense probably damaging 1.00
R3436:Ambp UTSW 4 63149484 missense probably benign 0.03
R3437:Ambp UTSW 4 63149484 missense probably benign 0.03
R4078:Ambp UTSW 4 63150443 missense probably damaging 0.98
R4409:Ambp UTSW 4 63152647 missense probably damaging 1.00
R4979:Ambp UTSW 4 63152651 missense probably benign 0.07
R6738:Ambp UTSW 4 63149474 missense probably benign
R6818:Ambp UTSW 4 63154006 nonsense probably null
R6890:Ambp UTSW 4 63150359 missense probably benign 0.44
R7934:Ambp UTSW 4 63149440 missense probably damaging 1.00
R8022:Ambp UTSW 4 63144197 missense probably damaging 1.00
R8671:Ambp UTSW 4 63150419 nonsense probably null
R8969:Ambp UTSW 4 63154091 start gained probably benign
X0057:Ambp UTSW 4 63149505 missense probably damaging 1.00
Posted On 2015-04-16