Incidental Mutation 'R1235:Fam53c'
ID 152413
Institutional Source Beutler Lab
Gene Symbol Fam53c
Ensembl Gene ENSMUSG00000034300
Gene Name family with sequence similarity 53, member C
Synonyms 2810012G03Rik
MMRRC Submission 039303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R1235 (G1)
Quality Score 115
Status Not validated
Chromosome 18
Chromosomal Location 34891959-34906813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34901311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 76 (L76Q)
Ref Sequence ENSEMBL: ENSMUSP00000095226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049281] [ENSMUST00000097622]
AlphaFold Q8BXQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000049281
AA Change: L76Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037034
Gene: ENSMUSG00000034300
AA Change: L76Q

DomainStartEndE-ValueType
Pfam:FAM53 1 307 3.9e-87 PFAM
low complexity region 334 346 N/A INTRINSIC
low complexity region 348 370 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097622
AA Change: L76Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095226
Gene: ENSMUSG00000034300
AA Change: L76Q

DomainStartEndE-ValueType
Pfam:FAM53 1 307 1.9e-87 PFAM
low complexity region 334 346 N/A INTRINSIC
low complexity region 348 370 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsg T C 11: 109,424,933 (GRCm39) probably null Het
Col6a1 C A 10: 76,548,158 (GRCm39) A633S unknown Het
Dnajb3 C T 1: 88,133,201 (GRCm39) R67H probably benign Het
Gys2 A T 6: 142,376,019 (GRCm39) Y548N probably damaging Het
Kcnh3 T A 15: 99,139,984 (GRCm39) probably null Het
Lrp2 C T 2: 69,354,380 (GRCm39) V483I probably damaging Het
Myom3 A T 4: 135,516,854 (GRCm39) Y808F probably benign Het
Nmur1 C T 1: 86,314,415 (GRCm39) G307S probably damaging Het
Or8w1 T G 2: 87,465,159 (GRCm39) probably null Het
Pcdhb13 T C 18: 37,578,012 (GRCm39) *797Q probably null Het
Plcb4 G A 2: 135,814,868 (GRCm39) G719R probably damaging Het
Pld1 A T 3: 28,082,883 (GRCm39) T143S probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Sema5a A T 15: 32,609,372 (GRCm39) Y426F probably benign Het
Trpc7 G T 13: 57,035,352 (GRCm39) H194N probably damaging Het
Vmn2r106 A T 17: 20,499,741 (GRCm39) F165I probably benign Het
Zdbf2 A G 1: 63,348,232 (GRCm39) T2204A possibly damaging Het
Zp2 A T 7: 119,737,566 (GRCm39) F240I possibly damaging Het
Other mutations in Fam53c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02720:Fam53c APN 18 34,903,720 (GRCm39) missense probably damaging 1.00
beebee UTSW 18 34,895,523 (GRCm39) splice site probably null
R3689:Fam53c UTSW 18 34,903,886 (GRCm39) missense probably damaging 1.00
R4691:Fam53c UTSW 18 34,901,743 (GRCm39) missense probably damaging 1.00
R4692:Fam53c UTSW 18 34,901,743 (GRCm39) missense probably damaging 1.00
R5278:Fam53c UTSW 18 34,895,671 (GRCm39) start gained probably benign
R6118:Fam53c UTSW 18 34,901,743 (GRCm39) missense probably damaging 1.00
R7110:Fam53c UTSW 18 34,895,523 (GRCm39) splice site probably null
R8445:Fam53c UTSW 18 34,901,368 (GRCm39) missense probably benign 0.00
R8500:Fam53c UTSW 18 34,901,854 (GRCm39) missense probably damaging 1.00
R8962:Fam53c UTSW 18 34,901,229 (GRCm39) missense probably damaging 1.00
R9272:Fam53c UTSW 18 34,895,774 (GRCm39) missense probably damaging 0.99
Z1177:Fam53c UTSW 18 34,903,903 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGGGAAGGTTAGGTTGTCCGTAGA -3'
(R):5'- TCCACAGGCACCGAGAGTGA -3'

Sequencing Primer
(F):5'- atccacctgcctctgcc -3'
(R):5'- AGCGGCAGTGCCTCTTG -3'
Posted On 2014-01-29