Incidental Mutation 'IGL00769:Ambp'
ID8813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ambp
Ensembl Gene ENSMUSG00000028356
Gene Namealpha 1 microglobulin/bikunin
SynonymsUTI, Urinary Trypsin Inhibitor, ulinastatin, Itil, HI-30, Intin4, ASPI
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL00769
Quality Score
Status
Chromosome4
Chromosomal Location63143275-63154799 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 63144165 bp
ZygosityHeterozygous
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]
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

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A G 11: 97,771,581 F155S probably damaging Het
9930111J21Rik1 A G 11: 48,948,212 V516A possibly damaging Het
A730017C20Rik T C 18: 59,072,277 S88P probably damaging Het
Ankrd28 A G 14: 31,743,365 V285A possibly damaging Het
Arfgef3 A G 10: 18,660,604 S220P probably benign Het
Atp9b G T 18: 80,912,853 H129N probably benign Het
Cdh10 C A 15: 18,985,099 P283Q possibly damaging Het
Cep295 A G 9: 15,326,144 S1941P probably damaging Het
Dmbt1 T A 7: 131,082,500 S575R probably damaging Het
Dock11 A G X: 36,004,062 N796S possibly damaging Het
Enam A T 5: 88,501,484 Y284F possibly damaging Het
F8 A T X: 75,334,180 probably benign Het
Fbxo42 C T 4: 141,180,449 T140M probably damaging Het
Galnt13 G A 2: 54,880,104 E303K probably benign Het
Mrgprb4 T A 7: 48,198,901 D93V probably benign Het
Msl3 T A X: 168,668,748 E215V probably damaging Het
Pglyrp3 A T 3: 92,014,622 probably benign Het
Prdx1 G A 4: 116,692,965 D115N probably benign Het
Psd3 A T 8: 67,908,679 probably benign Het
Rundc1 A G 11: 101,434,274 D602G probably damaging Het
Slc4a1ap T G 5: 31,553,777 Y742D probably damaging Het
Ugt1a6a C T 1: 88,139,050 P193S probably damaging Het
Vmn2r96 G A 17: 18,583,819 V252M probably benign Het
Wdr53 G A 16: 32,256,497 W173* probably null Het
Other mutations in Ambp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Ambp APN 4 63154018 missense possibly damaging 0.93
IGL01400:Ambp APN 4 63152722 missense probably damaging 1.00
IGL01646:Ambp APN 4 63148740 missense probably benign 0.04
IGL02338:Ambp APN 4 63143697 missense probably damaging 1.00
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
R8022:Ambp UTSW 4 63144197 missense probably damaging 1.00
X0057:Ambp UTSW 4 63149505 missense probably damaging 1.00
Posted On2012-12-06