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: 0.147) question?
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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