Incidental Mutation 'R1569:Fam124b'
ID 177084
Institutional Source Beutler Lab
Gene Symbol Fam124b
Ensembl Gene ENSMUSG00000043230
Gene Name family with sequence similarity 124, member B
Synonyms A830043J08Rik
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R1569 (G1)
Quality Score 179
Status Validated
Chromosome 1
Chromosomal Location 80176416-80192050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80190852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 177 (Y177C)
Ref Sequence ENSEMBL: ENSMUSP00000052208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058748]
AlphaFold Q8BLQ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000058748
AA Change: Y177C

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052208
Gene: ENSMUSG00000043230
AA Change: Y177C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161427
Meta Mutation Damage Score 0.1950 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging 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
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
R9607:Fam124b UTSW 1 80,190,813 (GRCm39) missense probably damaging 1.00
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'- TGCTGATGGGAACACACGGATTG -3'
(R):5'- ATCTTCTTGCCGACACTGGGAAC -3'

Sequencing Primer
(F):5'- ACACACGGATTGGGTAGAAG -3'
(R):5'- CTACTAGAATGTATCTGCCCAGAGG -3'
Posted On 2014-04-24