Incidental Mutation 'IGL02190:Scgb1a1'
ID 283831
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scgb1a1
Ensembl Gene ENSMUSG00000024653
Gene Name secretoglobin, family 1A, member 1
Synonyms Blastokinin, CCSP, Utg, CC10, club cell secretory protein, PCB-BP, UG, CC16
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02190
Quality Score
Status
Chromosome 19
Chromosomal Location 9061006-9065320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9065231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 12 (L12Q)
Ref Sequence ENSEMBL: ENSMUSP00000025554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025554]
AlphaFold Q06318
Predicted Effect probably damaging
Transcript: ENSMUST00000025554
AA Change: L12Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025554
Gene: ENSMUSG00000024653
AA Change: L12Q

DomainStartEndE-ValueType
UTG 22 90 7.12e-48 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the secretoglobin family of small secreted proteins. The encoded protein has been implicated in numerous functions including anti-inflammation, inhibition of phospholipase A2 and the sequestering of hydrophobic ligands. Defects in this gene are associated with a susceptibility to asthma. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit progressive renal glomerular disease characterized by proteinuria and hypocalcemia, necrotic pancreatic foci, reduced pulmonary neuroendocrine bodies, weight loss, cachexia, and premature mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,217,788 (GRCm39) probably benign Het
Ano1 T C 7: 144,172,620 (GRCm39) E521G probably benign Het
As3mt A T 19: 46,708,384 (GRCm39) I224F probably benign Het
Atp5mf C A 5: 145,120,642 (GRCm39) probably benign Het
Cacna1h A G 17: 25,652,000 (GRCm39) V48A probably benign Het
Ctu2 T C 8: 123,208,397 (GRCm39) probably benign Het
Ecpas A T 4: 58,800,190 (GRCm39) S1838R probably benign Het
Efcab5 T C 11: 77,012,140 (GRCm39) R841G probably benign Het
Erbb3 A T 10: 128,406,879 (GRCm39) probably null Het
Fkbp15 G T 4: 62,223,059 (GRCm39) P947T possibly damaging Het
Gabpb1 A G 2: 126,495,469 (GRCm39) probably benign Het
Gcn1 G T 5: 115,752,183 (GRCm39) V2100L probably damaging Het
Gemin5 A C 11: 58,025,668 (GRCm39) V977G probably damaging Het
Gpr107 T A 2: 31,068,332 (GRCm39) Y265N probably damaging Het
Gpx8 T C 13: 113,179,843 (GRCm39) probably benign Het
H2-Eb2 A T 17: 34,553,348 (GRCm39) N178I probably damaging Het
Ift172 C T 5: 31,411,802 (GRCm39) V1587I possibly damaging Het
Lrrc45 A G 11: 120,609,334 (GRCm39) T398A probably damaging Het
Mmrn1 G T 6: 60,964,177 (GRCm39) V1059L probably benign Het
Morn5 A G 2: 35,969,527 (GRCm39) D147G probably benign Het
Mphosph9 T C 5: 124,403,488 (GRCm39) R847G possibly damaging Het
Nutm1 C T 2: 112,079,751 (GRCm39) W721* probably null Het
Or1j18 T C 2: 36,624,591 (GRCm39) L86P probably benign Het
Or2j6 T C 7: 139,980,033 (GRCm39) probably benign Het
Or5w13 A G 2: 87,523,407 (GRCm39) M273T probably benign Het
Rgl3 A G 9: 21,893,004 (GRCm39) F227L probably benign Het
Ropn1l G T 15: 31,443,487 (GRCm39) L182I probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scp2 A G 4: 107,944,325 (GRCm39) S237P probably benign Het
Skint5 T C 4: 113,797,962 (GRCm39) Q207R possibly damaging Het
Slc16a5 A G 11: 115,353,435 (GRCm39) M1V probably null Het
Tox2 G A 2: 163,164,926 (GRCm39) R522H possibly damaging Het
Trip12 A T 1: 84,743,791 (GRCm39) N505K probably damaging Het
Tuba1c G A 15: 98,935,870 (GRCm39) D444N unknown Het
Vmn1r174 A G 7: 23,454,252 (GRCm39) E306G unknown Het
Vmn2r111 A T 17: 22,789,754 (GRCm39) F417L probably benign Het
Vmn2r15 A T 5: 109,441,240 (GRCm39) M206K probably damaging Het
Vmn2r95 G T 17: 18,672,038 (GRCm39) A592S probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Scgb1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0349:Scgb1a1 UTSW 19 9,062,753 (GRCm39) splice site probably null
R8088:Scgb1a1 UTSW 19 9,062,599 (GRCm39) missense probably damaging 0.99
R9241:Scgb1a1 UTSW 19 9,065,293 (GRCm39) start gained probably benign
Posted On 2015-04-16