Incidental Mutation 'R8027:Fam107a'
ID 643734
Institutional Source Beutler Lab
Gene Symbol Fam107a
Ensembl Gene ENSMUSG00000021750
Gene Name family with sequence similarity 107, member A
Synonyms DRR1
MMRRC Submission 067466-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R8027 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 14152166-14173503 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 8298813 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036070] [ENSMUST00000120411] [ENSMUST00000121887] [ENSMUST00000137133]
AlphaFold Q78TU8
Predicted Effect probably benign
Transcript: ENSMUST00000036070
SMART Domains Protein: ENSMUSP00000045513
Gene: ENSMUSG00000021750

DomainStartEndE-ValueType
Pfam:DUF1151 21 133 4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120411
SMART Domains Protein: ENSMUSP00000112769
Gene: ENSMUSG00000021750

DomainStartEndE-ValueType
Pfam:DUF1151 16 133 2.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121887
SMART Domains Protein: ENSMUSP00000114015
Gene: ENSMUSG00000021750

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 C T 3: 40,888,158 (GRCm39) T334I probably benign Het
Adam5 T C 8: 25,272,574 (GRCm39) N527S probably damaging Het
Aldh5a1 A T 13: 25,110,093 (GRCm39) Y147* probably null Het
Astn2 A C 4: 65,459,208 (GRCm39) V1121G possibly damaging Het
Atr T A 9: 95,747,809 (GRCm39) Y364N probably damaging Het
Bmpr2 T A 1: 59,906,962 (GRCm39) L685H probably damaging Het
C2cd5 A G 6: 143,024,046 (GRCm39) L248P possibly damaging Het
Calcoco2 A T 11: 95,991,241 (GRCm39) probably benign Het
Cog1 T C 11: 113,543,215 (GRCm39) L241P probably damaging Het
Fam161a A T 11: 22,970,125 (GRCm39) K101M probably damaging Het
Fancd2 C T 6: 113,523,583 (GRCm39) T240I probably damaging Het
Fbxl8 C T 8: 105,994,758 (GRCm39) T90I probably benign Het
Fndc3a A G 14: 72,790,983 (GRCm39) V998A probably benign Het
Fut1 G A 7: 45,268,289 (GRCm39) G81E probably damaging Het
Gapdh A G 6: 125,139,331 (GRCm39) V285A probably benign Het
Gm5591 T C 7: 38,221,722 (GRCm39) T116A probably damaging Het
Grhl2 A G 15: 37,279,727 (GRCm39) E145G probably benign Het
Grik1 T G 16: 87,732,893 (GRCm39) T660P Het
Gzmk T A 13: 113,308,434 (GRCm39) K256* probably null Het
Hsp90b1 A G 10: 86,532,594 (GRCm39) S361P probably damaging Het
Inpp5f T C 7: 128,292,397 (GRCm39) S645P probably damaging Het
Izumo1 T C 7: 45,275,678 (GRCm39) V329A probably benign Het
Leng8 CT C 7: 4,145,855 (GRCm39) probably null Het
Lrba T A 3: 86,325,219 (GRCm39) D1892E probably benign Het
Lztr1 T C 16: 17,329,976 (GRCm39) S101P probably damaging Het
Mark4 T C 7: 19,181,164 (GRCm39) D145G possibly damaging Het
Nudt9 T A 5: 104,212,793 (GRCm39) probably benign Het
Or55b10 T A 7: 102,143,629 (GRCm39) I118F probably damaging Het
Pcdhb9 T C 18: 37,536,069 (GRCm39) S688P possibly damaging Het
Prpf40a A G 2: 53,081,150 (GRCm39) M17T probably benign Het
Psg29 G A 7: 16,942,565 (GRCm39) V189M possibly damaging Het
Ptprm T C 17: 67,251,200 (GRCm39) Y559C probably damaging Het
Rimoc1 T C 15: 4,015,694 (GRCm39) Q290R probably benign Het
Scn10a T C 9: 119,462,856 (GRCm39) Y1060C probably damaging Het
Sh3pxd2b C T 11: 32,372,210 (GRCm39) T459M probably benign Het
Skint4 G T 4: 112,015,182 (GRCm39) probably null Het
Skint8 T A 4: 111,785,936 (GRCm39) D127E probably benign Het
Slc13a2 T A 11: 78,295,582 (GRCm39) M95L probably benign Het
Slc5a2 A G 7: 127,869,718 (GRCm39) M384V probably damaging Het
Timd5 T C 11: 46,428,744 (GRCm39) I222T probably benign Het
Tmem198 A T 1: 75,456,706 (GRCm39) probably benign Het
Ttn A G 2: 76,727,060 (GRCm39) I5835T unknown Het
Tulp3 T C 6: 128,311,436 (GRCm39) D73G probably benign Het
Ube2e2 A C 14: 18,574,317 (GRCm38) W195G possibly damaging Het
Utp25 A G 1: 192,800,530 (GRCm39) V430A probably benign Het
Wwp2 C A 8: 108,282,109 (GRCm39) H768N probably damaging Het
Other mutations in Fam107a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Fam107a APN 14 8,298,766 (GRCm38) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TAGGGTCCTCAGGTTCAGACTG -3'
(R):5'- TCCCCATATTCGGAGATGGTG -3'

Sequencing Primer
(F):5'- CTCAGGTTCAGACTGGCTGGAG -3'
(R):5'- CCATATTCGGAGATGGTGGGATTTC -3'
Posted On 2020-08-10