Incidental Mutation 'R7618:Fam124b'
ID 588982
Institutional Source Beutler Lab
Gene Symbol Fam124b
Ensembl Gene ENSMUSG00000043230
Gene Name family with sequence similarity 124, member B
Synonyms A830043J08Rik
MMRRC Submission 045685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7618 (G1)
Quality Score 115.008
Status Validated
Chromosome 1
Chromosomal Location 80176416-80192050 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 80191554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000052208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058748]
AlphaFold Q8BLQ0
Predicted Effect probably benign
Transcript: ENSMUST00000058748
SMART Domains Protein: ENSMUSP00000052208
Gene: ENSMUSG00000043230

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T C 14: 78,736,300 (GRCm39) D1830G Het
Alms1 A G 6: 85,655,399 (GRCm39) N2846S probably benign Het
Amt A C 9: 108,177,077 (GRCm39) E228D probably damaging Het
Ankar T C 1: 72,714,925 (GRCm39) M618V probably benign Het
Ankrd60 T C 2: 173,412,834 (GRCm39) probably null Het
Aoc1 A G 6: 48,883,320 (GRCm39) T399A possibly damaging Het
Aqp11 T A 7: 97,386,873 (GRCm39) I108F probably benign Het
Arfgef3 G T 10: 18,522,029 (GRCm39) Q666K probably damaging Het
Bin2 T A 15: 100,542,894 (GRCm39) R430W probably damaging Het
Brme1 A G 8: 84,893,499 (GRCm39) Q222R possibly damaging Het
Cdh18 T A 15: 23,367,056 (GRCm39) V254D probably damaging Het
Cfap46 A T 7: 139,183,155 (GRCm39) S159R Het
Clnk A T 5: 38,893,698 (GRCm39) S220T probably benign Het
Col19a1 G T 1: 24,361,165 (GRCm39) H608Q probably benign Het
Cplx1 C T 5: 108,673,395 (GRCm39) E24K possibly damaging Het
Dnah3 A T 7: 119,577,601 (GRCm39) L2031Q probably damaging Het
Dok1 T C 6: 83,009,872 (GRCm39) E79G probably benign Het
Eif4g3 T C 4: 137,898,429 (GRCm39) S902P probably damaging Het
Emilin3 T A 2: 160,751,199 (GRCm39) E183D probably benign Het
Gm9195 T C 14: 72,690,275 (GRCm39) Y1816C probably damaging Het
Ighv5-9-1 T A 12: 113,699,819 (GRCm39) I98F probably damaging Het
Il31ra G A 13: 112,688,514 (GRCm39) P21L possibly damaging Het
Kat6a A G 8: 23,352,578 (GRCm39) I121V possibly damaging Het
Kif11 T C 19: 37,400,008 (GRCm39) W832R probably benign Het
Klhl9 T C 4: 88,638,772 (GRCm39) T490A possibly damaging Het
Lars1 G T 18: 42,377,956 (GRCm39) A153E probably benign Het
Muc5b A T 7: 141,421,334 (GRCm39) I4275L probably benign Het
Myo10 T A 15: 25,726,561 (GRCm39) C294* probably null Het
Nceh1 T A 3: 27,237,366 (GRCm39) probably null Het
Ncf1 T A 5: 134,256,121 (GRCm39) T93S probably benign Het
Nfatc2 G A 2: 168,376,919 (GRCm39) R545C probably damaging Het
Nos1 C T 5: 118,042,009 (GRCm39) P545S probably benign Het
Ogfod3 C A 11: 121,093,804 (GRCm39) V69F probably damaging Het
Or4a27 A T 2: 88,559,180 (GRCm39) Y254* probably null Het
Phf12 A G 11: 77,916,960 (GRCm39) N272S unknown Het
Prkcz T A 4: 155,346,939 (GRCm39) I581F probably damaging Het
Rasgrf2 T C 13: 92,136,085 (GRCm39) H8R Het
Rb1cc1 T A 1: 6,335,782 (GRCm39) probably null Het
Rcor2 T A 19: 7,248,411 (GRCm39) M186K possibly damaging Het
Rnf111 C A 9: 70,410,614 (GRCm39) probably benign Het
Sanbr A C 11: 23,534,550 (GRCm39) C602W possibly damaging Het
Serinc3 A T 2: 163,472,889 (GRCm39) F247Y possibly damaging Het
Serpina1c T A 12: 103,865,029 (GRCm39) I206F probably damaging Het
Slc25a10 G A 11: 120,387,797 (GRCm39) probably null Het
Syne2 T G 12: 75,992,108 (GRCm39) H1993Q probably benign Het
Tap1 A G 17: 34,407,212 (GRCm39) Y120C possibly damaging Het
Tex30 A T 1: 44,127,410 (GRCm39) probably null Het
Ube2ql1 G T 13: 69,887,066 (GRCm39) Q132K probably benign Het
Unc13d T C 11: 115,957,547 (GRCm39) N803D probably damaging Het
Vcan G A 13: 89,840,342 (GRCm39) S1734F probably damaging Het
Wdfy4 T C 14: 32,707,696 (GRCm39) Y2630C Het
Wdr93 A G 7: 79,435,474 (GRCm39) T668A 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
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'- CCAGTGTCGGCAAGAAGATG -3'
(R):5'- GTTGAATGTAAGAACCACCCAC -3'

Sequencing Primer
(F):5'- CAGTCAAGGCTAGAGGTTCCTGTATC -3'
(R):5'- ACTGGGCGTGGGTCTCAG -3'
Posted On 2019-10-24