Incidental Mutation 'R5311:Fam53a'
ID 404841
Institutional Source Beutler Lab
Gene Symbol Fam53a
Ensembl Gene ENSMUSG00000037339
Gene Name family with sequence similarity 53, member A
Synonyms 5430419M09Rik, 2410018C17Rik, DNTNP
MMRRC Submission 042894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5311 (G1)
Quality Score 216
Status Not validated
Chromosome 5
Chromosomal Location 33757691-33786979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33765080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 209 (S209P)
Ref Sequence ENSEMBL: ENSMUSP00000070770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045329] [ENSMUST00000065119] [ENSMUST00000065162] [ENSMUST00000137705] [ENSMUST00000150033] [ENSMUST00000153696] [ENSMUST00000155980]
AlphaFold E9PV82
Predicted Effect probably damaging
Transcript: ENSMUST00000045329
AA Change: S209P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045539
Gene: ENSMUSG00000037339
AA Change: S209P

DomainStartEndE-ValueType
Pfam:FAM53 1 299 2.2e-113 PFAM
low complexity region 336 356 N/A INTRINSIC
low complexity region 367 382 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065119
AA Change: S209P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070770
Gene: ENSMUSG00000037339
AA Change: S209P

DomainStartEndE-ValueType
Pfam:FAM53 1 299 2.3e-112 PFAM
low complexity region 336 356 N/A INTRINSIC
low complexity region 367 382 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065162
AA Change: S209P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069521
Gene: ENSMUSG00000037339
AA Change: S209P

DomainStartEndE-ValueType
Pfam:FAM53 1 299 3.1e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137705
SMART Domains Protein: ENSMUSP00000121667
Gene: ENSMUSG00000037339

DomainStartEndE-ValueType
Pfam:FAM53 1 54 4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150033
SMART Domains Protein: ENSMUSP00000117350
Gene: ENSMUSG00000037339

DomainStartEndE-ValueType
Pfam:FAM53 1 54 4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153696
SMART Domains Protein: ENSMUSP00000118139
Gene: ENSMUSG00000037339

DomainStartEndE-ValueType
Pfam:FAM53 1 59 3.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155980
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 A G 5: 142,453,442 (GRCm39) K137E possibly damaging Het
Atm A C 9: 53,429,923 (GRCm39) V371G probably benign Het
Cacna2d3 A G 14: 29,068,987 (GRCm39) Y247H probably damaging Het
Ccdc180 T C 4: 45,917,556 (GRCm39) V927A probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Edar G A 10: 58,443,257 (GRCm39) P290S possibly damaging Het
Ext2 T C 2: 93,526,606 (GRCm39) I677V probably benign Het
Fshr A T 17: 89,318,441 (GRCm39) probably null Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gm14295 A T 2: 176,502,465 (GRCm39) I652L probably benign Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Gm5431 T A 11: 48,779,716 (GRCm39) E402V probably damaging Het
Gm6899 GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC GGAGGCCGCCCAGTGGCAGAGGC 11: 26,543,725 (GRCm39) probably null Het
Itih2 T C 2: 10,115,346 (GRCm39) D342G probably benign Het
Lgi2 A T 5: 52,711,827 (GRCm39) D164E probably damaging Het
Lrriq1 A G 10: 103,050,448 (GRCm39) I768T probably damaging Het
Map1a C A 2: 121,132,868 (GRCm39) A990E probably damaging Het
Mdh1b A G 1: 63,759,163 (GRCm39) V143A probably benign Het
Mrgprb3 C T 7: 48,293,059 (GRCm39) C164Y probably damaging Het
Mtpap T A 18: 4,386,328 (GRCm39) V316E probably damaging Het
Mybpc3 T A 2: 90,959,023 (GRCm39) C655* probably null Het
Myh15 A G 16: 48,986,204 (GRCm39) E1558G possibly damaging Het
Mylk A G 16: 34,742,127 (GRCm39) T880A probably benign Het
Nckap1 T A 2: 80,370,466 (GRCm39) D408V probably damaging Het
Nos3 A T 5: 24,582,343 (GRCm39) H605L probably benign Het
Nrxn2 C A 19: 6,581,428 (GRCm39) D411E probably benign Het
Or1af1 T C 2: 37,109,633 (GRCm39) V44A probably benign Het
Or8j3b T A 2: 86,205,094 (GRCm39) I221L possibly damaging Het
Pde4d C A 13: 109,769,398 (GRCm39) P29T probably benign Het
Pde4d C T 13: 109,769,399 (GRCm39) P29L probably benign Het
Pkhd1 A G 1: 20,636,094 (GRCm39) V412A possibly damaging Het
Rev1 T A 1: 38,118,474 (GRCm39) I480L probably benign Het
Rimbp3 A G 16: 17,028,708 (GRCm39) T711A probably benign Het
RP23-191E1.1 T A 3: 106,204,784 (GRCm39) noncoding transcript Het
Serpina11 A T 12: 103,952,221 (GRCm39) I183N probably damaging Het
Siglec1 T C 2: 130,921,236 (GRCm39) H645R probably damaging Het
Skint7 G A 4: 111,837,501 (GRCm39) R93H probably damaging Het
Slfn8 T C 11: 82,894,910 (GRCm39) E632G probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Trps1 G A 15: 50,528,156 (GRCm39) T658I probably damaging Het
Ubash3a A G 17: 31,438,691 (GRCm39) T287A probably damaging Het
Ugt2b35 G A 5: 87,159,139 (GRCm39) W444* probably null Het
Vmn1r219 T A 13: 23,347,063 (GRCm39) V84D probably damaging Het
Vmn2r10 T C 5: 109,154,121 (GRCm39) Y61C probably damaging Het
Vmn2r104 G A 17: 20,250,163 (GRCm39) P703S probably damaging Het
Wdsub1 T A 2: 59,708,873 (GRCm39) probably benign Het
Zfp667 A G 7: 6,308,715 (GRCm39) Q461R probably benign Het
Zfp941 C A 7: 140,391,872 (GRCm39) G496* probably null Het
Other mutations in Fam53a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Fam53a APN 5 33,758,171 (GRCm39) missense probably benign 0.09
IGL02326:Fam53a APN 5 33,757,938 (GRCm39) missense probably damaging 1.00
IGL02939:Fam53a APN 5 33,765,103 (GRCm39) missense probably damaging 1.00
IGL02988:Fam53a UTSW 5 33,764,819 (GRCm39) missense probably damaging 1.00
R0054:Fam53a UTSW 5 33,765,076 (GRCm39) missense probably damaging 0.99
R0884:Fam53a UTSW 5 33,758,160 (GRCm39) missense probably benign 0.00
R4601:Fam53a UTSW 5 33,758,007 (GRCm39) missense probably benign 0.00
R4808:Fam53a UTSW 5 33,765,023 (GRCm39) missense probably damaging 1.00
R6334:Fam53a UTSW 5 33,758,219 (GRCm39) missense probably damaging 1.00
R6525:Fam53a UTSW 5 33,765,262 (GRCm39) missense probably damaging 0.99
R6645:Fam53a UTSW 5 33,758,128 (GRCm39) missense probably benign
R6681:Fam53a UTSW 5 33,765,184 (GRCm39) missense probably damaging 1.00
R6814:Fam53a UTSW 5 33,767,829 (GRCm39) missense probably benign 0.35
R7542:Fam53a UTSW 5 33,764,815 (GRCm39) missense probably damaging 1.00
R8745:Fam53a UTSW 5 33,767,781 (GRCm39) missense probably damaging 0.96
Z1177:Fam53a UTSW 5 33,765,161 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CCGTGTCATTTTCAGAAAGTCC -3'
(R):5'- TGTGGACTCCCATCTCCAAG -3'

Sequencing Primer
(F):5'- GTGTCATTTTCAGAAAGTCCAAGGAC -3'
(R):5'- CAACAGTGGTGGGAGTGCC -3'
Posted On 2016-07-22