Incidental Mutation 'IGL00696:Scgb3a2'
ID 13926
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: 0.056) question?
Stock # IGL00696
Quality Score
Status
Chromosome 18
Chromosomal Location 43897354-43900464 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 43900094 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: F127L
SMART Domains Protein: ENSMUSP00000038872
Gene: ENSMUSG00000038791
AA Change: F127L

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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A G 1: 120,099,156 (GRCm39) E83G probably damaging Het
C1galt1 T C 6: 7,866,475 (GRCm39) V107A probably damaging Het
Dnah9 T C 11: 65,732,064 (GRCm39) probably benign Het
Dnm1l A G 16: 16,160,579 (GRCm39) S91P probably benign Het
Efl1 G A 7: 82,301,080 (GRCm39) probably benign Het
Foxa1 T C 12: 57,589,443 (GRCm39) Y259C probably damaging Het
Inpp5b T G 4: 124,636,328 (GRCm39) M1R probably null Het
Magea5 A G X: 153,836,432 (GRCm39) F320S possibly damaging Het
Megf8 A G 7: 25,041,817 (GRCm39) I1244V probably benign Het
Spats2 A G 15: 99,108,775 (GRCm39) K375R probably damaging Het
Other mutations in Scgb3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Scgb3a2 APN 18 43,900,059 (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 2012-12-06