Incidental Mutation 'IGL01940:Fam107a'
ID 180839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam107a
Ensembl Gene ENSMUSG00000021750
Gene Name family with sequence similarity 107, member A
Synonyms DRR1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01940
Quality Score
Status
Chromosome 14
Chromosomal Location 14152166-14173503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8298766 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 120 (H120R)
Ref Sequence ENSEMBL: ENSMUSP00000114015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036070] [ENSMUST00000120411] [ENSMUST00000121887] [ENSMUST00000137133]
AlphaFold Q78TU8
Predicted Effect probably benign
Transcript: ENSMUST00000036070
AA Change: H120R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000045513
Gene: ENSMUSG00000021750
AA Change: H120R

DomainStartEndE-ValueType
Pfam:DUF1151 21 133 4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120411
AA Change: H120R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000112769
Gene: ENSMUSG00000021750
AA Change: H120R

DomainStartEndE-ValueType
Pfam:DUF1151 16 133 2.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121887
AA Change: H120R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000114015
Gene: ENSMUSG00000021750
AA Change: H120R

DomainStartEndE-ValueType
Pfam:DUF1151 16 133 2.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137133
SMART Domains Protein: ENSMUSP00000120854
Gene: ENSMUSG00000021750

DomainStartEndE-ValueType
Pfam:DUF1151 16 99 2.8e-35 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,517,661 (GRCm39) probably benign Het
Ahnak A T 19: 8,983,921 (GRCm39) D1735V probably benign Het
Alkbh3 G A 2: 93,811,940 (GRCm39) T231I probably damaging Het
Ap4e1 T C 2: 126,885,431 (GRCm39) V344A probably damaging Het
Brip1 T A 11: 85,955,792 (GRCm39) D907V probably benign Het
Clca3a1 A T 3: 144,452,737 (GRCm39) M582K probably benign Het
Csf2 G T 11: 54,140,351 (GRCm39) P29H probably damaging Het
Cyp2d26 C T 15: 82,676,758 (GRCm39) R196H probably benign Het
Dagla A G 19: 10,229,535 (GRCm39) V575A probably benign Het
Dimt1 T A 13: 107,085,206 (GRCm39) probably benign Het
Ei24 A T 9: 36,693,687 (GRCm39) F288L probably damaging Het
Fancl G T 11: 26,409,752 (GRCm39) V203F probably damaging Het
Fgd6 T A 10: 93,925,512 (GRCm39) probably null Het
Flrt2 A G 12: 95,747,012 (GRCm39) Y450C probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Ift122 A G 6: 115,864,332 (GRCm39) probably benign Het
Kcnk13 A G 12: 100,027,683 (GRCm39) S253G probably benign Het
Lcp1 A T 14: 75,453,805 (GRCm39) N469I probably benign Het
Lrrc24 T C 15: 76,600,257 (GRCm39) Y294C probably damaging Het
Odam C A 5: 88,035,192 (GRCm39) S52Y possibly damaging Het
Or14j7 C T 17: 38,235,177 (GRCm39) T240I probably damaging Het
Or4a71 T A 2: 89,358,154 (GRCm39) N200I probably damaging Het
Or51i2 A G 7: 103,689,129 (GRCm39) N42S probably damaging Het
Pkd1 G T 17: 24,798,720 (GRCm39) R2676L possibly damaging Het
Plec T C 15: 76,064,529 (GRCm39) D1915G probably damaging Het
Ptbp2 A G 3: 119,519,764 (GRCm39) V9A possibly damaging Het
Ptk2b A G 14: 66,396,062 (GRCm39) I802T probably benign Het
Rabgap1 G T 2: 37,377,079 (GRCm39) A304S probably damaging Het
Sema3f T C 9: 107,560,896 (GRCm39) probably benign Het
Serpinb3a A T 1: 106,973,915 (GRCm39) V332E probably damaging Het
Skil T A 3: 31,165,793 (GRCm39) M370K probably benign Het
Slc25a1 T A 16: 17,744,304 (GRCm39) Y209F probably benign Het
Smim15 A G 13: 108,184,164 (GRCm39) K57E probably damaging Het
Taar3 T A 10: 23,825,855 (GRCm39) C134S probably damaging Het
Tns4 C T 11: 98,959,047 (GRCm39) S684N probably benign Het
Vmn2r58 A G 7: 41,487,071 (GRCm39) V608A probably benign Het
Zbtb26 A T 2: 37,325,987 (GRCm39) C350S possibly damaging Het
Other mutations in Fam107a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0477:Fam107a UTSW 14 8,301,168 (GRCm38) missense probably benign 0.45
R4998:Fam107a UTSW 14 8,299,514 (GRCm38) missense possibly damaging 0.61
R5546:Fam107a UTSW 14 8,298,764 (GRCm38) missense probably benign 0.01
R6360:Fam107a UTSW 14 8,299,619 (GRCm38) missense probably damaging 0.99
R8027:Fam107a UTSW 14 8,298,813 (GRCm38) unclassified probably benign
R8701:Fam107a UTSW 14 8,298,755 (GRCm38) missense probably damaging 1.00
R8879:Fam107a UTSW 14 8,301,352 (GRCm38) critical splice donor site probably null
Posted On 2014-05-07