Incidental Mutation 'IGL01112:Scgb3a2'
ID 53186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scgb3a2
Ensembl Gene ENSMUSG00000038791
Gene Name secretoglobin, family 3A, member 2
Synonyms LuLeu1, UGRP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01112
Quality Score
Status
Chromosome 18
Chromosomal Location 43897354-43900464 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 43900059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043803] [ENSMUST00000187157] [ENSMUST00000189750]
AlphaFold Q920H1
Predicted Effect unknown
Transcript: ENSMUST00000043803
AA Change: C116S
SMART Domains Protein: ENSMUSP00000038872
Gene: ENSMUSG00000038791
AA Change: C116S

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:Uteroglobin 30 98 1.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187157
SMART Domains Protein: ENSMUSP00000140476
Gene: ENSMUSG00000038791

DomainStartEndE-ValueType
Pfam:Uteroglobin 27 88 8.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189750
SMART Domains Protein: ENSMUSP00000140375
Gene: ENSMUSG00000038791

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:Uteroglobin 27 98 3.2e-20 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma.[provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T C 7: 144,190,882 (GRCm39) I401V possibly damaging Het
Ap2a2 A T 7: 141,184,932 (GRCm39) probably benign Het
Apol7c T A 15: 77,410,637 (GRCm39) D103V probably damaging Het
Arid4a T C 12: 71,119,507 (GRCm39) probably null Het
Atp2a1 A G 7: 126,049,479 (GRCm39) V521A probably benign Het
Ccdc88c G T 12: 100,883,062 (GRCm39) D1603E probably benign Het
Clec4f T C 6: 83,630,182 (GRCm39) I125M probably benign Het
Dsc1 T C 18: 20,227,679 (GRCm39) I520V probably benign Het
Eomes G A 9: 118,311,334 (GRCm39) A386T probably damaging Het
Gldc C T 19: 30,135,913 (GRCm39) probably null Het
Hectd4 G T 5: 121,445,013 (GRCm39) M1420I probably benign Het
Hmcn1 A T 1: 150,508,303 (GRCm39) probably benign Het
Ighv6-3 G A 12: 114,355,335 (GRCm39) T118I possibly damaging Het
Krt82 A G 15: 101,453,958 (GRCm39) F250S probably damaging Het
Ltb A G 17: 35,413,576 (GRCm39) T27A probably benign Het
Mex3b T A 7: 82,518,911 (GRCm39) S409T probably benign Het
Mki67 A T 7: 135,315,745 (GRCm39) I39N probably damaging Het
Or51a7 A G 7: 102,615,235 (GRCm39) probably benign Het
Palmd A G 3: 116,717,922 (GRCm39) S192P probably damaging Het
Pcdh20 A T 14: 88,704,636 (GRCm39) M888K probably benign Het
Pclo A T 5: 14,731,083 (GRCm39) H3195L unknown Het
Pgm2 A T 5: 64,260,225 (GRCm39) I137F possibly damaging Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Rmnd1 T C 10: 4,360,793 (GRCm39) probably null Het
Rnf114 T C 2: 167,354,459 (GRCm39) M180T probably damaging Het
Sap30 A G 8: 57,938,123 (GRCm39) F165L possibly damaging Het
Sftpa1 A T 14: 40,854,527 (GRCm39) N38I probably benign Het
Sumf1 A G 6: 108,152,977 (GRCm39) F137S probably damaging Het
Tln2 C A 9: 67,219,093 (GRCm39) R284L probably damaging Het
Ttn C T 2: 76,570,703 (GRCm39) R26730Q probably damaging Het
Ttn T A 2: 76,540,808 (GRCm39) R25732S probably damaging Het
Tubgcp4 T C 2: 121,004,082 (GRCm39) V41A probably benign Het
Usp53 T A 3: 122,751,367 (GRCm39) Q230L probably damaging Het
Vmn2r57 T C 7: 41,074,467 (GRCm39) E532G probably damaging Het
Vps9d1 G T 8: 123,972,769 (GRCm39) N454K probably damaging Het
Wdr55 T C 18: 36,895,132 (GRCm39) probably null Het
Zfp263 T A 16: 3,566,776 (GRCm39) C76S probably benign Het
Other mutations in Scgb3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00696:Scgb3a2 APN 18 43,900,094 (GRCm39) intron probably benign
R0881:Scgb3a2 UTSW 18 43,897,549 (GRCm39) splice site probably benign
R1781:Scgb3a2 UTSW 18 43,900,033 (GRCm39) critical splice donor site probably benign
R1857:Scgb3a2 UTSW 18 43,899,900 (GRCm39) missense probably benign 0.03
R4856:Scgb3a2 UTSW 18 43,899,819 (GRCm39) missense probably damaging 1.00
R4886:Scgb3a2 UTSW 18 43,899,819 (GRCm39) missense probably damaging 1.00
R6484:Scgb3a2 UTSW 18 43,899,784 (GRCm39) missense possibly damaging 0.82
R6980:Scgb3a2 UTSW 18 43,897,499 (GRCm39) missense probably damaging 1.00
R9160:Scgb3a2 UTSW 18 43,900,445 (GRCm39) utr 3 prime probably benign
R9405:Scgb3a2 UTSW 18 43,900,129 (GRCm39) missense possibly damaging 0.84
R9556:Scgb3a2 UTSW 18 43,900,039 (GRCm39) missense unknown
Posted On 2013-06-21