Incidental Mutation 'R9607:Fam124b'
ID 723906
Institutional Source Beutler Lab
Gene Symbol Fam124b
Ensembl Gene ENSMUSG00000043230
Gene Name family with sequence similarity 124, member B
Synonyms A830043J08Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R9607 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 80176416-80192050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80190813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 190 (Q190L)
Ref Sequence ENSEMBL: ENSMUSP00000052208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058748]
AlphaFold Q8BLQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000058748
AA Change: Q190L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052208
Gene: ENSMUSG00000043230
AA Change: Q190L

DomainStartEndE-ValueType
Pfam:FAM124 10 244 1.2e-107 PFAM
low complexity region 288 297 N/A INTRINSIC
low complexity region 379 394 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,914,068 (GRCm39) probably null Het
Atp8a1 T C 5: 67,817,250 (GRCm39) Y927C Het
Bckdhb A G 9: 83,871,344 (GRCm39) I208V probably benign Het
Cacna1g T C 11: 94,356,714 (GRCm39) I141V probably benign Het
Celsr1 A G 15: 85,915,229 (GRCm39) S915P Het
Celsr3 G A 9: 108,717,701 (GRCm39) probably null Het
Cep295 A T 9: 15,234,009 (GRCm39) D2262E probably damaging Het
Chil3 T C 3: 106,067,685 (GRCm39) K160R probably null Het
Cmtr1 G T 17: 29,893,196 (GRCm39) A72S probably benign Het
Cpa5 T C 6: 30,626,338 (GRCm39) F233S probably damaging Het
Creb3l3 G A 10: 80,920,735 (GRCm39) R432W probably damaging Het
Csdc2 A G 15: 81,831,088 (GRCm39) D45G possibly damaging Het
Csmd3 G T 15: 47,618,811 (GRCm39) T1859K probably damaging Het
Cxxc1 T C 18: 74,353,479 (GRCm39) probably null Het
Dcc A G 18: 71,721,072 (GRCm39) S430P probably damaging Het
Dera T G 6: 137,833,732 (GRCm39) S270A unknown Het
Dnaaf1 A G 8: 120,309,350 (GRCm39) E146G possibly damaging Het
Dsg4 A T 18: 20,586,047 (GRCm39) T246S probably benign Het
Eif4g3 A G 4: 137,893,045 (GRCm39) E766G probably benign Het
Ep400 A C 5: 110,831,805 (GRCm39) C2146G unknown Het
Epas1 A T 17: 87,134,038 (GRCm39) T516S probably benign Het
Espn A G 4: 152,219,939 (GRCm39) S395P probably benign Het
Filip1 T A 9: 79,726,402 (GRCm39) D739V probably damaging Het
Flg2 A G 3: 93,108,719 (GRCm39) Y249C probably damaging Het
Gon4l T A 3: 88,765,751 (GRCm39) S391T probably damaging Het
Hoxa5 G T 6: 52,181,196 (GRCm39) Y45* probably null Het
Ift172 A G 5: 31,410,913 (GRCm39) F1715S Het
Klhdc9 T A 1: 171,187,124 (GRCm39) H262L probably damaging Het
Krt16 C A 11: 100,138,453 (GRCm39) D232Y probably damaging Het
Lrrd1 A G 5: 3,901,561 (GRCm39) E622G probably damaging Het
Mars1 A T 10: 127,144,493 (GRCm39) C182* probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Msrb2 C A 2: 19,399,130 (GRCm39) N164K probably damaging Het
Mtcl2 T G 2: 156,869,488 (GRCm39) E1049A probably damaging Het
Muc2 T A 7: 141,305,190 (GRCm39) C604S Het
Mup17 T C 4: 61,511,903 (GRCm39) I124V probably benign Het
Myo18b T C 5: 113,022,544 (GRCm39) M283V unknown Het
Ndn C T 7: 61,998,337 (GRCm39) P61L possibly damaging Het
Nepro T C 16: 44,551,832 (GRCm39) L230P probably damaging Het
Nes A G 3: 87,883,513 (GRCm39) N591D probably benign Het
Nfrkb T C 9: 31,326,066 (GRCm39) S1170P possibly damaging Het
Nphs1 A T 7: 30,163,012 (GRCm39) T430S probably damaging Het
Nrp1 T C 8: 129,152,262 (GRCm39) V157A probably benign Het
Nup188 T A 2: 30,197,724 (GRCm39) D259E probably benign Het
Or52n5 T C 7: 104,588,207 (GRCm39) M158T probably benign Het
Or5b109 A T 19: 13,211,953 (GRCm39) N113I Het
Or8b1c A G 9: 38,384,913 (GRCm39) Y290C probably damaging Het
Or9s18 G T 13: 65,300,885 (GRCm39) M282I probably benign Het
Pcdha8 T A 18: 37,126,217 (GRCm39) L233Q probably damaging Het
Pcdhga12 T A 18: 37,901,389 (GRCm39) F740L probably damaging Het
Pglyrp4 G A 3: 90,638,151 (GRCm39) G155D probably damaging Het
Piezo2 G A 18: 63,519,347 (GRCm39) probably benign Het
Pirb G A 7: 3,720,617 (GRCm39) R294C possibly damaging Het
Ppil1 A T 17: 29,470,481 (GRCm39) *167K probably null Het
Prdm10 G T 9: 31,260,486 (GRCm39) D647Y probably damaging Het
Prkn A G 17: 12,222,963 (GRCm39) Y371C probably damaging Het
Prrc2b T A 2: 32,098,794 (GRCm39) I702N probably damaging Het
Rnf26rt A T 6: 76,473,923 (GRCm39) L231* probably null Het
Rtp4 T A 16: 23,339,226 (GRCm39) probably null Het
Sema6c A G 3: 95,076,545 (GRCm39) H277R probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc41a2 A G 10: 83,119,631 (GRCm39) L377P probably damaging Het
Svil T C 18: 5,058,126 (GRCm39) Y630H possibly damaging Het
Tbata A G 10: 61,011,626 (GRCm39) H54R probably benign Het
Tnfaip2 C A 12: 111,412,069 (GRCm39) Q157K possibly damaging Het
Trappc14 T C 5: 138,259,862 (GRCm39) D398G probably damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Vmn2r74 T A 7: 85,610,619 (GRCm39) R24S probably benign Het
Vmn2r90 G A 17: 17,953,638 (GRCm39) V601M possibly damaging Het
Vmn2r-ps117 A G 17: 19,043,940 (GRCm39) T339A probably benign Het
Xirp2 C T 2: 67,341,106 (GRCm39) H1116Y possibly damaging Het
Xrcc1 A G 7: 24,265,690 (GRCm39) D156G probably benign Het
Other mutations in Fam124b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Fam124b APN 1 80,190,852 (GRCm39) missense possibly damaging 0.95
IGL03384:Fam124b APN 1 80,177,673 (GRCm39) missense probably benign
R0233:Fam124b UTSW 1 80,190,703 (GRCm39) missense probably damaging 1.00
R0233:Fam124b UTSW 1 80,190,703 (GRCm39) missense probably damaging 1.00
R1403:Fam124b UTSW 1 80,191,056 (GRCm39) missense possibly damaging 0.57
R1403:Fam124b UTSW 1 80,191,056 (GRCm39) missense possibly damaging 0.57
R1514:Fam124b UTSW 1 80,178,148 (GRCm39) missense possibly damaging 0.82
R1569:Fam124b UTSW 1 80,190,852 (GRCm39) missense possibly damaging 0.95
R1983:Fam124b UTSW 1 80,191,364 (GRCm39) missense probably benign 0.03
R3104:Fam124b UTSW 1 80,190,748 (GRCm39) missense probably damaging 1.00
R4640:Fam124b UTSW 1 80,191,243 (GRCm39) missense probably damaging 1.00
R5014:Fam124b UTSW 1 80,177,776 (GRCm39) missense probably benign 0.00
R6180:Fam124b UTSW 1 80,177,902 (GRCm39) missense possibly damaging 0.71
R7618:Fam124b UTSW 1 80,191,554 (GRCm39) start gained probably benign
R7682:Fam124b UTSW 1 80,191,282 (GRCm39) missense possibly damaging 0.87
R7720:Fam124b UTSW 1 80,177,974 (GRCm39) missense probably damaging 1.00
R7812:Fam124b UTSW 1 80,191,351 (GRCm39) missense probably damaging 1.00
R7877:Fam124b UTSW 1 80,191,053 (GRCm39) missense probably damaging 1.00
R7898:Fam124b UTSW 1 80,191,512 (GRCm39) start gained probably benign
R7989:Fam124b UTSW 1 80,191,311 (GRCm39) missense probably damaging 1.00
R8851:Fam124b UTSW 1 80,190,882 (GRCm39) missense probably damaging 1.00
R9022:Fam124b UTSW 1 80,190,705 (GRCm39) missense probably damaging 1.00
R9292:Fam124b UTSW 1 80,191,221 (GRCm39) missense probably benign 0.04
T0975:Fam124b UTSW 1 80,190,843 (GRCm39) missense probably benign 0.06
X0005:Fam124b UTSW 1 80,190,843 (GRCm39) missense probably benign 0.06
X0062:Fam124b UTSW 1 80,190,678 (GRCm39) missense probably damaging 1.00
Z1176:Fam124b UTSW 1 80,191,120 (GRCm39) missense possibly damaging 0.58
Z1177:Fam124b UTSW 1 80,177,805 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAACGAAATGAAATACCTGCAGC -3'
(R):5'- TACAGTCTGCACAACCAGATG -3'

Sequencing Primer
(F):5'- ACCTGCAGCAGAATCTTATTGC -3'
(R):5'- CACAACCAGATGCCAGTGTGG -3'
Posted On 2022-09-12