Incidental Mutation 'R0477:Fam107a'
ID 41872
Institutional Source Beutler Lab
Gene Symbol Fam107a
Ensembl Gene ENSMUSG00000021750
Gene Name family with sequence similarity 107, member A
Synonyms DRR1
MMRRC Submission 038677-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R0477 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 14152166-14173503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8301168 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 21 (Y21N)
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
AA Change: Y21N

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045513
Gene: ENSMUSG00000021750
AA Change: Y21N

DomainStartEndE-ValueType
Pfam:DUF1151 21 133 4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120411
AA Change: Y21N

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112769
Gene: ENSMUSG00000021750
AA Change: Y21N

DomainStartEndE-ValueType
Pfam:DUF1151 16 133 2.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121887
AA Change: Y21N

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114015
Gene: ENSMUSG00000021750
AA Change: Y21N

DomainStartEndE-ValueType
Pfam:DUF1151 16 133 2.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137133
AA Change: Y21N

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120854
Gene: ENSMUSG00000021750
AA Change: Y21N

DomainStartEndE-ValueType
Pfam:DUF1151 16 99 2.8e-35 PFAM
Meta Mutation Damage Score 0.3066 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A T 11: 117,693,787 (GRCm39) I85F probably benign Het
Abca8a T A 11: 109,956,051 (GRCm39) I778L probably benign Het
Abcc5 T C 16: 20,187,319 (GRCm39) N889S possibly damaging Het
Abcc5 T C 16: 20,217,635 (GRCm39) N359D probably damaging Het
Adam23 A G 1: 63,596,559 (GRCm39) probably benign Het
Adamts3 A T 5: 89,832,366 (GRCm39) D913E probably benign Het
Ap1b1 G T 11: 4,981,787 (GRCm39) C538F probably benign Het
Ash1l T A 3: 88,890,766 (GRCm39) S882T probably benign Het
C9 A T 15: 6,487,664 (GRCm39) E43D probably benign Het
Cacna2d1 T C 5: 16,399,796 (GRCm39) probably null Het
Ces2a A G 8: 105,464,169 (GRCm39) E267G probably damaging Het
Cfap61 A G 2: 145,781,836 (GRCm39) D23G probably damaging Het
Col9a3 T G 2: 180,251,263 (GRCm39) probably benign Het
Cstl1 T C 2: 148,592,908 (GRCm39) V21A probably benign Het
Cth A T 3: 157,610,812 (GRCm39) L340Q probably damaging Het
Dnah8 T A 17: 30,974,054 (GRCm39) M2813K probably damaging Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Fer1l4 A G 2: 155,894,806 (GRCm39) V21A probably benign Het
Foxc2 A T 8: 121,844,774 (GRCm39) Y474F probably damaging Het
Hnf4g G T 3: 3,716,851 (GRCm39) probably benign Het
Hnrnpll T C 17: 80,369,261 (GRCm39) D54G unknown Het
Hydin A G 8: 111,145,130 (GRCm39) Y827C probably damaging Het
Il23r A G 6: 67,429,361 (GRCm39) V327A probably benign Het
Itih4 T A 14: 30,611,631 (GRCm39) V118D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lamb1 A G 12: 31,376,268 (GRCm39) D1546G possibly damaging Het
Large1 A T 8: 73,544,710 (GRCm39) D689E probably damaging Het
Map1a T C 2: 121,132,582 (GRCm39) S895P probably damaging Het
Mdn1 A C 4: 32,750,928 (GRCm39) E4487A probably benign Het
Myo15a T C 11: 60,411,740 (GRCm39) probably null Het
Nlrp4f C A 13: 65,338,720 (GRCm39) R639L probably benign Het
Or4f52 A G 2: 111,062,009 (GRCm39) F43S probably benign Het
Or8h10 T A 2: 86,808,567 (GRCm39) D191V probably damaging Het
Pcdh9 T C 14: 94,125,114 (GRCm39) N229S probably damaging Het
Pcnx2 A G 8: 126,488,306 (GRCm39) V1746A probably damaging Het
Phf12 A T 11: 77,913,896 (GRCm39) H446L possibly damaging Het
Phlpp2 A G 8: 110,622,138 (GRCm39) probably null Het
Psmb9 A C 17: 34,401,238 (GRCm39) V207G probably damaging Het
Ptprh C A 7: 4,600,997 (GRCm39) D127Y possibly damaging Het
Rabep1 T G 11: 70,811,733 (GRCm39) M535R probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scin T C 12: 40,110,515 (GRCm39) D711G probably damaging Het
Slfn4 T C 11: 83,079,507 (GRCm39) I6T probably benign Het
Sos1 T A 17: 80,742,363 (GRCm39) E388V possibly damaging Het
Spag5 A C 11: 78,205,024 (GRCm39) Q603P probably damaging Het
Supv3l1 G T 10: 62,266,364 (GRCm39) T604N probably damaging Het
Tbx5 A G 5: 120,021,184 (GRCm39) S397G possibly damaging Het
Tmprss5 A G 9: 49,026,465 (GRCm39) D383G possibly damaging Het
Trim43b A G 9: 88,972,654 (GRCm39) W167R probably damaging Het
Unc80 A T 1: 66,609,160 (GRCm39) D1283V probably damaging Het
Upf1 A T 8: 70,786,730 (GRCm39) V918D probably benign Het
Vmn2r100 A G 17: 19,742,776 (GRCm39) I383M probably benign Het
Zc3h3 G T 15: 75,648,932 (GRCm39) S733R possibly damaging Het
Zcchc2 C T 1: 105,958,000 (GRCm39) P426S possibly damaging Het
Zkscan7 A G 9: 122,719,874 (GRCm39) probably null Het
Other mutations in Fam107a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Fam107a APN 14 8,298,766 (GRCm38) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- AATGGCTAGGTCAGCCCCTCTAAG -3'
(R):5'- CCGTTTCCCACAATAGAGAGGCAG -3'

Sequencing Primer
(F):5'- GAAGCATTTTTCTAAGCCAGCC -3'
(R):5'- GCAAGACTTGCATTATCAGGTAGC -3'
Posted On 2013-05-23