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) question?
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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