Incidental Mutation 'R7193:Fam50b'
ID 559738
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 045334-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7193 (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 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,265,963 (GRCm39) probably null Het
Abca16 T C 7: 120,026,409 (GRCm39) S124P probably damaging Het
Acan A T 7: 78,736,090 (GRCm39) S179C probably damaging Het
Atg2b A C 12: 105,630,967 (GRCm39) H319Q probably damaging Het
Bptf G A 11: 106,945,635 (GRCm39) Q2535* probably null Het
Brpf3 T C 17: 29,055,665 (GRCm39) *1205R probably null Het
Cabyr C A 18: 12,884,815 (GRCm39) P434Q probably damaging Het
Cacna1g C A 11: 94,300,057 (GRCm39) D2268Y possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cct4 A G 11: 22,947,111 (GRCm39) T201A probably benign Het
Cdyl2 A C 8: 117,350,733 (GRCm39) S133A probably benign Het
Cep76 A G 18: 67,774,204 (GRCm39) L14P possibly damaging Het
Cert1 T A 13: 96,767,341 (GRCm39) probably null Het
Crybg3 A T 16: 59,379,956 (GRCm39) S433T possibly damaging Het
Cul9 T C 17: 46,849,423 (GRCm39) K574R probably damaging Het
Cyp2u1 T C 3: 131,084,792 (GRCm39) I527V probably benign Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
F5 A G 1: 164,046,966 (GRCm39) N2142S probably damaging Het
Flnc A G 6: 29,450,870 (GRCm39) Y1506C probably damaging Het
Foxred2 T A 15: 77,836,230 (GRCm39) S376C probably damaging Het
Gbe1 T C 16: 70,292,258 (GRCm39) L530P probably damaging Het
Hmcn1 T C 1: 150,525,331 (GRCm39) R3398G probably null Het
Igf1r T C 7: 67,836,905 (GRCm39) L587P probably damaging Het
Ints15 A G 5: 143,293,598 (GRCm39) V293A probably benign Het
Kcna3 T C 3: 106,943,853 (GRCm39) Y39H probably benign Het
Krtap5-2 GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA GCTACAGCCTCCCTTGCA 7: 141,728,980 (GRCm39) probably benign Het
Mbl1 T C 14: 40,880,669 (GRCm39) F186L probably damaging Het
Ncam2 A T 16: 81,386,683 (GRCm39) K687N probably damaging Het
Nedd4l T C 18: 65,130,441 (GRCm39) V24A probably damaging Het
Nek1 A G 8: 61,526,612 (GRCm39) E661G probably damaging Het
Nudt14 G T 12: 112,902,940 (GRCm39) D28E probably benign Het
Or13n4 T C 7: 106,423,798 (GRCm39) probably benign Het
Or1j15 T A 2: 36,459,248 (GRCm39) C213S probably benign Het
Or2n1 T A 17: 38,485,987 (GRCm39) I4N probably benign Het
Or4k47 A T 2: 111,451,600 (GRCm39) V273E probably damaging Het
Pdk4 A T 6: 5,487,089 (GRCm39) M319K probably benign Het
Pfkp T C 13: 6,643,252 (GRCm39) N522S probably benign Het
Pias2 T C 18: 77,207,817 (GRCm39) V234A possibly damaging Het
Pik3c2b C A 1: 133,007,512 (GRCm39) H625Q probably benign Het
Pnpla7 T C 2: 24,941,627 (GRCm39) S1117P probably damaging Het
Prdm2 A T 4: 142,907,464 (GRCm39) V36D probably damaging Het
Prep C T 10: 44,968,795 (GRCm39) R98C probably benign Het
Rae1 T C 2: 172,850,110 (GRCm39) probably null Het
Rgs3 T A 4: 62,533,573 (GRCm39) V138E probably damaging Het
Rnf185 T C 11: 3,375,329 (GRCm39) T142A possibly damaging Het
Rsph6a C A 7: 18,799,572 (GRCm39) P401Q probably damaging Het
Runx3 A T 4: 134,848,456 (GRCm39) T14S probably benign Het
Scaf11 A G 15: 96,317,042 (GRCm39) S841P probably damaging Het
Spta1 T A 1: 174,012,178 (GRCm39) L328Q probably damaging Het
Sqor G A 2: 122,645,929 (GRCm39) V318M probably damaging Het
Stox2 T C 8: 47,639,489 (GRCm39) T902A probably benign Het
Susd3 T C 13: 49,384,679 (GRCm39) H248R probably damaging Het
Syne1 T C 10: 5,183,406 (GRCm39) Y4133C probably damaging Het
Tbc1d20 C T 2: 152,153,337 (GRCm39) T289M probably benign Het
Unc80 T A 1: 66,588,943 (GRCm39) F1036Y possibly damaging Het
Zbtb7c T C 18: 76,271,009 (GRCm39) C366R probably damaging Het
Zeb1 A T 18: 5,772,756 (GRCm39) D1015V probably damaging Het
Zfp606 T G 7: 12,227,966 (GRCm39) S696A probably benign 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
R6820:Fam50b UTSW 13 34,931,084 (GRCm39) missense possibly damaging 0.89
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
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'- CGCAAGATCTCCAACCTGTC -3'
(R):5'- TGACGTACATGAGCTGCTCC -3'

Sequencing Primer
(F):5'- ACCTGTCTTTCACGTTGGACGAG -3'
(R):5'- TACATGAGCTGCTCCACGCC -3'
Posted On 2019-06-26