Incidental Mutation 'R5122:Fam53b'
ID 393350
Institutional Source Beutler Lab
Gene Symbol Fam53b
Ensembl Gene ENSMUSG00000030956
Gene Name family with sequence similarity 53, member B
Synonyms A930008G19Rik
MMRRC Submission 042710-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5122 (G1)
Quality Score 198
Status Not validated
Chromosome 7
Chromosomal Location 132313811-132415615 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to A at 132380991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065371] [ENSMUST00000097998] [ENSMUST00000097999] [ENSMUST00000106165] [ENSMUST00000106166] [ENSMUST00000106168] [ENSMUST00000140865] [ENSMUST00000106169] [ENSMUST00000134946] [ENSMUST00000124096]
AlphaFold Q8BGR5
Predicted Effect probably benign
Transcript: ENSMUST00000065371
SMART Domains Protein: ENSMUSP00000070763
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 303 6.4e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097998
SMART Domains Protein: ENSMUSP00000095607
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 57 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097999
SMART Domains Protein: ENSMUSP00000095608
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 303 6.4e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106165
SMART Domains Protein: ENSMUSP00000101771
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 303 4.2e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106166
SMART Domains Protein: ENSMUSP00000101772
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 303 4.2e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106168
SMART Domains Protein: ENSMUSP00000101774
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 273 1.2e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146460
Predicted Effect probably benign
Transcript: ENSMUST00000140865
Predicted Effect probably benign
Transcript: ENSMUST00000106169
SMART Domains Protein: ENSMUSP00000101775
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 303 2.3e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134946
SMART Domains Protein: ENSMUSP00000118953
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 65 1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148303
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,750,409 (GRCm39) S1727P probably damaging Het
Actr8 A T 14: 29,704,672 (GRCm39) K57N possibly damaging Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Bltp1 A G 3: 37,088,906 (GRCm39) probably null Het
Bmp2k A G 5: 97,234,874 (GRCm39) probably benign Het
Cd274 A G 19: 29,357,965 (GRCm39) H219R possibly damaging Het
Cdc16 A T 8: 13,814,570 (GRCm39) Y118F probably damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Chchd3 T C 6: 32,945,240 (GRCm39) R89G probably benign Het
Clstn2 C T 9: 97,343,474 (GRCm39) V658M probably damaging Het
Cpt1b A G 15: 89,308,226 (GRCm39) S160P probably benign Het
Crym T C 7: 119,794,718 (GRCm39) N167S probably benign Het
Dhx16 T A 17: 36,194,202 (GRCm39) Y438N probably damaging Het
Dnah12 A G 14: 26,439,155 (GRCm39) R536G probably benign Het
Dnajc11 A G 4: 152,061,454 (GRCm39) D382G possibly damaging Het
Dync1h1 G A 12: 110,596,114 (GRCm39) G1547D probably damaging Het
Eml3 T A 19: 8,915,060 (GRCm39) probably null Het
Ep400 G A 5: 110,816,036 (GRCm39) P2799S probably damaging Het
Ephb6 T C 6: 41,590,338 (GRCm39) V30A probably benign Het
Fcrl1 A G 3: 87,293,081 (GRCm39) K246R probably benign Het
Focad G A 4: 88,325,602 (GRCm39) probably null Het
Glipr1l2 T C 10: 111,942,961 (GRCm39) I272T possibly damaging Het
Gm8104 A G 14: 42,966,550 (GRCm39) I101V probably benign Het
Grm5 A G 7: 87,724,028 (GRCm39) I773V probably damaging Het
Hyal1 A T 9: 107,455,268 (GRCm39) T193S probably benign Het
Igkv10-94 C A 6: 68,681,655 (GRCm39) G62* probably null Het
Itsn1 A G 16: 91,690,732 (GRCm39) probably benign Het
Kank4 A G 4: 98,644,804 (GRCm39) S983P probably damaging Het
Krtap16-1 C A 11: 99,876,523 (GRCm39) V294F probably damaging Het
Lama3 T G 18: 12,672,823 (GRCm39) V866G possibly damaging Het
Lrba C T 3: 86,256,461 (GRCm39) R1268* probably null Het
Lrriq1 C T 10: 103,023,314 (GRCm39) V984I probably damaging Het
Macf1 A C 4: 123,346,085 (GRCm39) V4136G probably damaging Het
Mdn1 A T 4: 32,670,593 (GRCm39) E419D probably damaging Het
Nedd4l A G 18: 65,324,518 (GRCm39) Y473C probably damaging Het
Nod2 G T 8: 89,390,748 (GRCm39) D330Y probably damaging Het
Nt5c2 C T 19: 46,878,360 (GRCm39) C458Y probably damaging Het
Numa1 T C 7: 101,662,976 (GRCm39) I681T probably damaging Het
Or10a5 C A 7: 106,636,055 (GRCm39) S231* probably null Het
Papolg C T 11: 23,817,501 (GRCm39) probably null Het
Parn A G 16: 13,472,311 (GRCm39) probably null Het
Pgap2 T C 7: 101,880,598 (GRCm39) F42S probably damaging Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Pofut2 G C 10: 77,104,399 (GRCm39) R392P probably damaging Het
Prpf18 T C 2: 4,648,520 (GRCm39) D102G probably damaging Het
Rreb1 T A 13: 38,114,744 (GRCm39) I701N probably benign Het
Slc26a5 T C 5: 22,052,194 (GRCm39) K45R probably damaging Het
Slc8a3 A G 12: 81,361,032 (GRCm39) probably null Het
Slf1 T A 13: 77,198,106 (GRCm39) M723L probably benign Het
Spata31e5 A G 1: 28,819,141 (GRCm39) S47P probably benign Het
Sra1 T C 18: 36,800,647 (GRCm39) T187A probably benign Het
Stk17b A C 1: 53,815,717 (GRCm39) N27K probably damaging Het
Tbc1d9 T A 8: 83,963,172 (GRCm39) Y295N probably damaging Het
Tubgcp6 A G 15: 89,000,306 (GRCm39) V353A probably damaging Het
Unc80 A T 1: 66,718,749 (GRCm39) T2991S possibly damaging Het
Urb1 G A 16: 90,548,983 (GRCm39) R2242* probably null Het
Vasp T C 7: 18,998,697 (GRCm39) N20S probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R probably damaging Het
Other mutations in Fam53b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Fam53b APN 7 132,317,511 (GRCm39) missense probably damaging 0.99
PIT4402001:Fam53b UTSW 7 132,361,746 (GRCm39) missense probably damaging 1.00
R1923:Fam53b UTSW 7 132,317,521 (GRCm39) missense probably damaging 0.98
R3712:Fam53b UTSW 7 132,361,654 (GRCm39) missense probably damaging 1.00
R5000:Fam53b UTSW 7 132,317,730 (GRCm39) missense probably benign 0.43
R5102:Fam53b UTSW 7 132,317,684 (GRCm39) nonsense probably null
R5700:Fam53b UTSW 7 132,361,749 (GRCm39) missense probably damaging 1.00
R5810:Fam53b UTSW 7 132,361,893 (GRCm39) missense probably damaging 1.00
R6186:Fam53b UTSW 7 132,317,445 (GRCm39) missense possibly damaging 0.55
R7075:Fam53b UTSW 7 132,361,352 (GRCm39) missense probably damaging 0.98
R7125:Fam53b UTSW 7 132,373,357 (GRCm39) missense probably damaging 1.00
R7286:Fam53b UTSW 7 132,361,390 (GRCm39) missense possibly damaging 0.96
R8141:Fam53b UTSW 7 132,361,758 (GRCm39) missense probably damaging 1.00
R9502:Fam53b UTSW 7 132,361,740 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CCAAGTTGTTAGGCCCAGATG -3'
(R):5'- AGGCTTTCCTAGTGCTGAGC -3'

Sequencing Primer
(F):5'- GGCCCAGATGCCCATCC -3'
(R):5'- TCCTAGTGCTGAGCCCGTTG -3'
Posted On 2016-06-15