Incidental Mutation 'IGL01400:Ambp'
ID 79608
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) question?
Stock # IGL01400
Quality Score
Status
Chromosome 4
Chromosomal Location 63061512-63072409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63070959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 40 (Y40C)
Ref Sequence ENSEMBL: ENSMUSP00000030041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030041] [ENSMUST00000142901]
AlphaFold Q07456
Predicted Effect probably damaging
Transcript: ENSMUST00000030041
AA Change: Y40C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030041
Gene: ENSMUSG00000028356
AA Change: Y40C

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 unknown
Transcript: ENSMUST00000142901
AA Change: Y40C
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,390,960 (GRCm39) I133N probably damaging Het
Abl2 T G 1: 156,462,754 (GRCm39) C510G probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Arfgef3 G A 10: 18,528,454 (GRCm39) A311V probably damaging Het
Cass4 A G 2: 172,269,220 (GRCm39) D434G probably damaging Het
Cep250 A C 2: 155,840,211 (GRCm39) T2390P possibly damaging Het
Cpm C A 10: 117,495,680 (GRCm39) N56K probably benign Het
Cspp1 T C 1: 10,156,156 (GRCm39) L455P probably damaging Het
Dcx T C X: 142,714,150 (GRCm39) K51E possibly damaging Het
Ehd3 T C 17: 74,135,089 (GRCm39) F322L probably benign Het
Ell A G 8: 71,031,563 (GRCm39) D87G probably damaging Het
Epor C T 9: 21,870,735 (GRCm39) probably null Het
Exosc10 T G 4: 148,649,728 (GRCm39) M386R probably damaging Het
Gpr152 T C 19: 4,193,626 (GRCm39) I389T probably benign Het
Gvin3 T A 7: 106,201,242 (GRCm39) E667D probably benign Het
Kmo T A 1: 175,482,661 (GRCm39) D328E possibly damaging Het
Llgl1 A G 11: 60,597,316 (GRCm39) H255R probably damaging Het
Lrch3 T A 16: 32,799,911 (GRCm39) H416Q probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mdm1 T G 10: 117,993,156 (GRCm39) H320Q probably damaging Het
Nol4 T A 18: 22,956,555 (GRCm39) H209L probably damaging Het
Or5p58 A T 7: 107,694,046 (GRCm39) C244S probably damaging Het
Pcdhac2 T C 18: 37,279,339 (GRCm39) V773A possibly damaging Het
Pde3a A G 6: 141,404,954 (GRCm39) N393S probably benign Het
Pik3r5 A G 11: 68,385,373 (GRCm39) K700R probably benign Het
Prob1 G A 18: 35,786,386 (GRCm39) R623C possibly damaging Het
Slc14a2 T C 18: 78,235,428 (GRCm39) N112D probably damaging Het
Snapc3 C T 4: 83,368,414 (GRCm39) P304S probably damaging Het
Spin2c T A X: 152,616,621 (GRCm39) W145R probably damaging Het
Tmem131l T C 3: 83,829,429 (GRCm39) E1075G probably damaging Het
Trip12 C T 1: 84,729,699 (GRCm39) R995Q probably damaging Het
Trpm6 T A 19: 18,803,158 (GRCm39) L867* probably null Het
Vmn1r87 T G 7: 12,866,230 (GRCm39) H19P probably damaging Het
Vps16 A G 2: 130,280,273 (GRCm39) E139G possibly damaging Het
Other mutations in Ambp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2013-11-05