Incidental Mutation 'IGL03280:Scgb2b7'
ID 415549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scgb2b7
Ensembl Gene ENSMUSG00000094053
Gene Name secretoglobin, family 2B, member 7
Synonyms Gm4684, Abpbg7
Accession Numbers
Essential gene? Not available question?
Stock # IGL03280
Quality Score
Status
Chromosome 7
Chromosomal Location 31403204-31405179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31404506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 65 (C65S)
Ref Sequence ENSEMBL: ENSMUSP00000136731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178258]
AlphaFold D3YYY1
Predicted Effect probably damaging
Transcript: ENSMUST00000178258
AA Change: C65S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136731
Gene: ENSMUSG00000094053
AA Change: C65S

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:Feld-I_B 24 90 7.8e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188968
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb4 T C 6: 5,423,416 (GRCm39) S188P probably benign Het
Bbs5 A G 2: 69,497,315 (GRCm39) probably benign Het
Cdh13 G T 8: 120,040,873 (GRCm39) G693W probably damaging Het
Cdh20 T A 1: 110,036,498 (GRCm39) Y559* probably null Het
Cemip G A 7: 83,636,538 (GRCm39) probably benign Het
Crem A G 18: 3,273,415 (GRCm39) probably benign Het
Crygf A G 1: 65,967,329 (GRCm39) Y151C probably damaging Het
Dcp1b T C 6: 119,157,019 (GRCm39) probably benign Het
Fanca A G 8: 124,043,198 (GRCm39) probably benign Het
Fkbp15 A C 4: 62,221,504 (GRCm39) probably benign Het
Gabrp C T 11: 33,502,616 (GRCm39) R416Q probably benign Het
Iho1 T C 9: 108,282,099 (GRCm39) S530G possibly damaging Het
Impg2 T A 16: 56,088,631 (GRCm39) Y1052* probably null Het
Isg15 T C 4: 156,284,319 (GRCm39) M70V probably benign Het
Krit1 T A 5: 3,861,248 (GRCm39) probably benign Het
Lrrn3 T C 12: 41,504,146 (GRCm39) D57G probably damaging Het
Macrod1 A G 19: 7,174,937 (GRCm39) E309G possibly damaging Het
Notch1 A T 2: 26,367,886 (GRCm39) probably benign Het
Nptx1 T C 11: 119,435,555 (GRCm39) T254A probably damaging Het
Or12e9 A T 2: 87,202,467 (GRCm39) D197V probably damaging Het
Pigm A G 1: 172,204,420 (GRCm39) Y52C probably damaging Het
Pramel27 A T 4: 143,578,489 (GRCm39) T250S possibly damaging Het
Rif1 A G 2: 52,002,611 (GRCm39) T2022A probably benign Het
Rint1 T A 5: 24,022,076 (GRCm39) L646Q probably damaging Het
Rpe65 A T 3: 159,309,978 (GRCm39) I84F probably damaging Het
Scnn1a T C 6: 125,319,744 (GRCm39) probably benign Het
Selenop T C 15: 3,310,104 (GRCm39) probably benign Het
Siglecf T G 7: 43,005,354 (GRCm39) V438G probably benign Het
St8sia4 T A 1: 95,581,499 (GRCm39) probably benign Het
Tfeb T C 17: 48,096,862 (GRCm39) F43S probably benign Het
Tgm6 A G 2: 129,980,851 (GRCm39) Y216C probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A T 2: 76,728,811 (GRCm39) C1234* probably null Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Usp24 T G 4: 106,237,627 (GRCm39) I1095R probably damaging Het
Usp34 C T 11: 23,304,897 (GRCm39) H377Y probably damaging Het
Other mutations in Scgb2b7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Scgb2b7 APN 7 31,403,409 (GRCm39) missense probably benign 0.26
IGL03242:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03252:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03261:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03271:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03277:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03302:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03308:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03388:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03401:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03402:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
IGL03411:Scgb2b7 APN 7 31,404,506 (GRCm39) missense probably damaging 1.00
R0457:Scgb2b7 UTSW 7 31,403,437 (GRCm39) missense possibly damaging 0.85
R7741:Scgb2b7 UTSW 7 31,404,454 (GRCm39) critical splice donor site probably null
R8925:Scgb2b7 UTSW 7 31,404,602 (GRCm39) missense probably benign 0.00
R8927:Scgb2b7 UTSW 7 31,404,602 (GRCm39) missense probably benign 0.00
R9801:Scgb2b7 UTSW 7 31,404,580 (GRCm39) missense probably damaging 1.00
Z1186:Scgb2b7 UTSW 7 31,404,547 (GRCm39) missense probably benign 0.13
Z1186:Scgb2b7 UTSW 7 31,404,489 (GRCm39) missense probably benign
Posted On 2016-08-02