Incidental Mutation 'R6820:Fam50b'
ID 537582
Institutional Source Beutler Lab
Gene Symbol Fam50b
Ensembl Gene ENSMUSG00000038246
Gene Name family with sequence similarity 50, member B
Synonyms XAP-5-like, D0H6S2654E, X5L
MMRRC Submission 044932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6820 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 34918833-34931605 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34931084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 187 (E187K)
Ref Sequence ENSEMBL: ENSMUSP00000152187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039605] [ENSMUST00000221037]
AlphaFold Q9WTJ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000039605
AA Change: E187K

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046980
Gene: ENSMUSG00000038246
AA Change: E187K

DomainStartEndE-ValueType
coiled coil region 9 45 N/A INTRINSIC
Pfam:XAP5 110 333 2.7e-88 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000221037
AA Change: E187K

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1571 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,673,266 (GRCm39) N141Y probably null Het
Chkb A G 15: 89,312,379 (GRCm39) L46P probably damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Dna2 T C 10: 62,800,683 (GRCm39) I739T possibly damaging Het
Dnah17 T C 11: 117,959,826 (GRCm39) H2620R probably damaging Het
Dsel A G 1: 111,787,547 (GRCm39) V996A probably damaging Het
Dst T C 1: 34,250,337 (GRCm39) L1757S probably damaging Het
Exoc5 A T 14: 49,286,387 (GRCm39) probably null Het
Fam120a A T 13: 49,034,468 (GRCm39) V1048E possibly damaging Het
Fbxw19 T A 9: 109,311,079 (GRCm39) T377S probably benign Het
Fbxw28 A T 9: 109,167,493 (GRCm39) F88Y probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Gtsf1 T C 15: 103,328,954 (GRCm39) T92A probably benign Het
Hoxc13 A G 15: 102,830,257 (GRCm39) Y212C probably damaging Het
Itih2 T C 2: 10,102,909 (GRCm39) I742V probably benign Het
Kat7 T C 11: 95,174,965 (GRCm39) T351A probably damaging Het
Mlh3 T C 12: 85,294,497 (GRCm39) D1233G probably damaging Het
Mroh2b A G 15: 4,982,756 (GRCm39) D1525G probably damaging Het
Nme5 T C 18: 34,704,626 (GRCm39) Y73C probably damaging Het
Nr3c2 T C 8: 77,969,086 (GRCm39) V957A probably damaging Het
Nup153 A G 13: 46,863,459 (GRCm39) S301P probably benign Het
Obscn T C 11: 58,942,019 (GRCm39) D5013G probably damaging Het
Or4f54 C T 2: 111,123,455 (GRCm39) P281S probably damaging Het
Or5p51 A G 7: 107,444,298 (GRCm39) V214A probably benign Het
Or8g51 A G 9: 38,608,771 (GRCm39) V297A possibly damaging Het
Pak1 A G 7: 97,535,586 (GRCm39) N226D probably benign Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pkp3 T C 7: 140,659,757 (GRCm39) probably null Het
Prxl2b A T 4: 154,982,623 (GRCm39) D50E probably damaging Het
Psd G T 19: 46,309,283 (GRCm39) A558E probably damaging Het
Psmd14 C A 2: 61,607,068 (GRCm39) H172N probably benign Het
Pygb G T 2: 150,658,674 (GRCm39) W366L possibly damaging Het
Rbm39 A T 2: 156,021,146 (GRCm39) M1K probably null Het
Rnf213 T C 11: 119,339,664 (GRCm39) I3421T probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Smg6 T C 11: 74,932,790 (GRCm39) V88A probably damaging Het
Tha1 T C 11: 117,762,504 (GRCm39) E80G probably benign Het
Tie1 A G 4: 118,341,583 (GRCm39) V243A probably damaging Het
Tmem215 T C 4: 40,473,926 (GRCm39) M1T probably null Het
Tpm2 A G 4: 43,518,443 (GRCm39) Y221H probably damaging Het
Ubap1 C T 4: 41,379,854 (GRCm39) P356L probably benign Het
Wbp2nl G T 15: 82,197,996 (GRCm39) A178S possibly damaging Het
Wdr54 A T 6: 83,131,601 (GRCm39) S139T probably benign Het
Wipi2 G C 5: 142,615,555 (GRCm39) Q14H probably benign Het
Zan T C 5: 137,406,106 (GRCm39) probably benign Het
Zfp735 A G 11: 73,579,783 (GRCm39) M1V probably null Het
Other mutations in Fam50b
AlleleSourceChrCoordTypePredicted EffectPPH Score
G1citation:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R0395:Fam50b UTSW 13 34,931,220 (GRCm39) missense probably damaging 1.00
R2276:Fam50b UTSW 13 34,930,823 (GRCm39) nonsense probably null
R2279:Fam50b UTSW 13 34,930,823 (GRCm39) nonsense probably null
R3726:Fam50b UTSW 13 34,930,869 (GRCm39) missense probably damaging 0.96
R6330:Fam50b UTSW 13 34,930,652 (GRCm39) missense probably benign 0.01
R6822:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R6824:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R7019:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R7193:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R7795:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R7796:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R7797:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R7871:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R7880:Fam50b UTSW 13 34,930,802 (GRCm39) missense probably benign 0.01
R7920:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R7921:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R8081:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
R8175:Fam50b UTSW 13 34,930,847 (GRCm39) missense probably benign
R8443:Fam50b UTSW 13 34,930,856 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCGCAAGATCTCCAACCTG -3'
(R):5'- ACGTACATGAGCTGCTCCAC -3'

Sequencing Primer
(F):5'- ACCTGTCTTTCACGTTGGACGAG -3'
(R):5'- TTCAGGAACTGCTGCAC -3'
Posted On 2018-10-18