Incidental Mutation 'R0242:Fam120b'
ID 59608
Institutional Source Beutler Lab
Gene Symbol Fam120b
Ensembl Gene ENSMUSG00000014763
Gene Name family with sequence similarity 120, member B
Synonyms 4932442K08Rik, CCPG
MMRRC Submission 038480-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0242 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 15616464-15653843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15643186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 655 (V655D)
Ref Sequence ENSEMBL: ENSMUSP00000054420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055352]
AlphaFold Q6RI63
Predicted Effect probably damaging
Transcript: ENSMUST00000055352
AA Change: V655D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054420
Gene: ENSMUSG00000014763
AA Change: V655D

DomainStartEndE-ValueType
Blast:XPGN 1 111 7e-46 BLAST
SCOP:d1a77_2 21 185 6e-8 SMART
internal_repeat_1 324 364 9.23e-10 PROSPERO
internal_repeat_1 372 412 9.23e-10 PROSPERO
low complexity region 650 664 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231947
Meta Mutation Damage Score 0.4454 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency 97% (110/113)
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,601,676 (GRCm39) D230G probably benign Het
Abhd13 A G 8: 10,037,561 (GRCm39) I53V probably benign Het
Adgrl2 A C 3: 148,544,821 (GRCm39) probably null Het
Aldh16a1 G A 7: 44,794,088 (GRCm39) A596V probably damaging Het
Aldh3b2 T A 19: 4,029,414 (GRCm39) Y262* probably null Het
Ambn A G 5: 88,615,831 (GRCm39) Q420R possibly damaging Het
Ankib1 A C 5: 3,750,344 (GRCm39) probably benign Het
Arhgap9 C A 10: 127,165,407 (GRCm39) H430Q probably benign Het
Arhgef25 C T 10: 127,019,933 (GRCm39) G435E probably damaging Het
Armc12 A T 17: 28,751,366 (GRCm39) D120V possibly damaging Het
Asxl3 G A 18: 22,649,738 (GRCm39) E576K possibly damaging Het
Bcdin3d T C 15: 99,368,776 (GRCm39) E141G probably benign Het
Bmpr1b G A 3: 141,546,437 (GRCm39) T483M probably damaging Het
Caprin2 C T 6: 148,744,452 (GRCm39) S991N probably damaging Het
Cd96 T C 16: 45,892,129 (GRCm39) I286M possibly damaging Het
Cdcp1 G T 9: 123,009,237 (GRCm39) F480L probably benign Het
Celf5 T C 10: 81,300,243 (GRCm39) T258A probably benign Het
Cgnl1 A G 9: 71,628,939 (GRCm39) V577A probably damaging Het
Clca3b A G 3: 144,547,226 (GRCm39) S304P probably benign Het
Cmya5 A T 13: 93,232,108 (GRCm39) H993Q probably benign Het
Cnbp A T 6: 87,822,746 (GRCm39) C6S probably damaging Het
Col14a1 C T 15: 55,360,907 (GRCm39) R1605W probably damaging Het
Cops7a T C 6: 124,941,817 (GRCm39) N11S probably benign Het
Coro7 T C 16: 4,448,042 (GRCm39) probably benign Het
Cpvl T C 6: 53,909,485 (GRCm39) H217R possibly damaging Het
Cuedc1 T C 11: 88,075,447 (GRCm39) probably benign Het
Cyp2c66 A G 19: 39,130,369 (GRCm39) Y68C probably damaging Het
Dicer1 G A 12: 104,668,710 (GRCm39) T1324M probably benign Het
Dlgap2 A G 8: 14,777,562 (GRCm39) D268G probably benign Het
Dnm1 T A 2: 32,207,001 (GRCm39) M535L possibly damaging Het
Dock7 A T 4: 98,850,517 (GRCm39) F1575Y probably benign Het
Dpp10 T A 1: 123,326,275 (GRCm39) H403L possibly damaging Het
Dync1h1 A G 12: 110,616,285 (GRCm39) D3112G possibly damaging Het
Eno3 A G 11: 70,548,761 (GRCm39) E21G probably null Het
Fkbp5 A T 17: 28,647,426 (GRCm39) D136E probably benign Het
Gdap1l1 T A 2: 163,289,573 (GRCm39) Y179* probably null Het
Gfer A G 17: 24,913,277 (GRCm39) W192R probably damaging Het
Gm4782 A G 6: 50,586,838 (GRCm39) T408A probably benign Het
Golgb1 C T 16: 36,695,992 (GRCm39) Q164* probably null Het
Gpnmb A G 6: 49,024,276 (GRCm39) N197S probably damaging Het
Gtf2f1 G A 17: 57,310,802 (GRCm39) T414M probably benign Het
Hc A G 2: 34,926,166 (GRCm39) probably benign Het
Hcfc1 A T X: 72,992,035 (GRCm39) probably benign Het
Helz2 C T 2: 180,872,223 (GRCm39) R2539Q probably damaging Het
Hsd17b12 T A 2: 93,988,160 (GRCm39) I19F probably benign Het
Incenp T C 19: 9,871,114 (GRCm39) T172A unknown Het
Jmy A G 13: 93,578,126 (GRCm39) Y681H probably benign Het
Kbtbd11 A G 8: 15,077,508 (GRCm39) T36A probably benign Het
Kcnh4 T C 11: 100,646,525 (GRCm39) D267G probably damaging Het
Krt34 C T 11: 99,932,157 (GRCm39) E56K probably damaging Het
Krt40 T A 11: 99,429,568 (GRCm39) E335D probably damaging Het
Krt86 T A 15: 101,374,454 (GRCm39) Y282* probably null Het
Lgi3 C T 14: 70,772,255 (GRCm39) R267* probably null Het
Lnpk A G 2: 74,367,633 (GRCm39) probably benign Het
Lrp1b T A 2: 40,888,195 (GRCm39) H2355L probably benign Het
Lrrc8e G A 8: 4,285,401 (GRCm39) R542H probably benign Het
Mia2 T C 12: 59,155,642 (GRCm39) Y452H probably damaging Het
Mmachc C T 4: 116,561,738 (GRCm39) R132Q probably damaging Het
Mtbp T A 15: 55,440,882 (GRCm39) N356K possibly damaging Het
Myo5b A G 18: 74,794,787 (GRCm39) H552R possibly damaging Het
Niban1 A G 1: 151,593,967 (GRCm39) D884G probably benign Het
Noxred1 A G 12: 87,273,753 (GRCm39) V96A probably benign Het
Nr1d2 T A 14: 18,211,933 (GRCm38) D390V possibly damaging Het
Oas1e A T 5: 120,929,839 (GRCm39) probably benign Het
Odad2 A T 18: 7,211,516 (GRCm39) V786D probably damaging Het
Or1r1 T C 11: 73,874,538 (GRCm39) S299G probably benign Het
Or6c1b T A 10: 129,273,217 (GRCm39) Y179N probably damaging Het
Otog G T 7: 45,916,805 (GRCm39) C914F probably damaging Het
Pank2 G T 2: 131,122,117 (GRCm39) C214F probably damaging Het
Pcdhb1 T A 18: 37,399,788 (GRCm39) S580T probably benign Het
Pdia3 T C 2: 121,244,592 (GRCm39) S2P probably damaging Het
Peli1 G T 11: 21,092,602 (GRCm39) R83L probably damaging Het
Pla2g3 T A 11: 3,441,935 (GRCm39) C366* probably null Het
Pon3 T A 6: 5,240,860 (GRCm39) D107V probably benign Het
Ppip5k2 A G 1: 97,668,816 (GRCm39) C532R probably damaging Het
Prph A T 15: 98,953,608 (GRCm39) D174V probably damaging Het
Psd3 A G 8: 68,210,738 (GRCm39) M270T probably damaging Het
Pum3 A G 19: 27,400,155 (GRCm39) probably benign Het
Pus1 A T 5: 110,927,664 (GRCm39) H30Q probably benign Het
Pwwp3a T C 10: 80,070,092 (GRCm39) S354P probably benign Het
Rab7 A T 6: 87,982,114 (GRCm39) V87E probably damaging Het
Rbm5 A T 9: 107,628,907 (GRCm39) probably benign Het
Reln A G 5: 22,147,595 (GRCm39) probably null Het
S1pr3 A G 13: 51,572,938 (GRCm39) T40A probably benign Het
Sdk1 T A 5: 142,129,677 (GRCm39) probably benign Het
Senp7 T A 16: 55,999,884 (GRCm39) I853N probably damaging Het
Serpinb6c T A 13: 34,083,230 (GRCm39) probably benign Het
Shroom1 T G 11: 53,356,312 (GRCm39) probably null Het
Slc24a3 T C 2: 145,448,584 (GRCm39) I376T probably benign Het
Slc46a1 T C 11: 78,359,493 (GRCm39) I375T possibly damaging Het
Slc4a9 T C 18: 36,666,733 (GRCm39) F527S probably damaging Het
Slc4a9 T A 18: 36,674,286 (GRCm39) I924N probably damaging Het
Slx4 T A 16: 3,804,816 (GRCm39) E666V probably damaging Het
Snrnp27 G A 6: 86,652,575 (GRCm39) probably benign Het
Sorcs1 C T 19: 50,216,659 (GRCm39) G640E probably damaging Het
Spmap2l G T 5: 77,164,152 (GRCm39) E52* probably null Het
Sptan1 A T 2: 29,908,413 (GRCm39) M1725L probably benign Het
Sync G A 4: 129,187,514 (GRCm39) R182K probably damaging Het
Syne2 G A 12: 76,144,808 (GRCm39) G1586S probably damaging Het
Sytl1 G T 4: 132,980,768 (GRCm39) T522K probably damaging Het
Tex2 T A 11: 106,410,781 (GRCm39) K414* probably null Het
Tex55 C T 16: 38,644,929 (GRCm39) probably benign Het
Thsd7a G A 6: 12,503,915 (GRCm39) T413I probably benign Het
Tm9sf1 C T 14: 55,875,392 (GRCm39) A451T possibly damaging Het
Ttn A T 2: 76,656,496 (GRCm39) probably benign Het
Uba2 T C 7: 33,854,054 (GRCm39) I140V possibly damaging Het
Ushbp1 C A 8: 71,842,762 (GRCm39) G361* probably null Het
Wbp2nl C T 15: 82,197,988 (GRCm39) A175V probably benign Het
Zc3h12d A G 10: 7,738,330 (GRCm39) E212G probably damaging Het
Zc3h7b T C 15: 81,653,031 (GRCm39) probably benign Het
Other mutations in Fam120b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Fam120b APN 17 15,622,857 (GRCm39) nonsense probably null
IGL01874:Fam120b APN 17 15,623,301 (GRCm39) nonsense probably null
IGL02111:Fam120b APN 17 15,622,847 (GRCm39) missense possibly damaging 0.67
IGL02395:Fam120b APN 17 15,622,777 (GRCm39) missense probably damaging 1.00
IGL02901:Fam120b APN 17 15,627,964 (GRCm39) splice site probably benign
IGL03380:Fam120b APN 17 15,623,396 (GRCm39) splice site probably benign
R0139:Fam120b UTSW 17 15,646,446 (GRCm39) splice site probably benign
R0242:Fam120b UTSW 17 15,643,186 (GRCm39) missense probably damaging 1.00
R0244:Fam120b UTSW 17 15,637,899 (GRCm39) missense probably damaging 1.00
R0486:Fam120b UTSW 17 15,646,550 (GRCm39) splice site probably benign
R0551:Fam120b UTSW 17 15,651,905 (GRCm39) splice site probably benign
R0584:Fam120b UTSW 17 15,622,384 (GRCm39) missense probably damaging 1.00
R0620:Fam120b UTSW 17 15,623,189 (GRCm39) missense probably benign
R1606:Fam120b UTSW 17 15,622,073 (GRCm39) missense possibly damaging 0.79
R1638:Fam120b UTSW 17 15,622,759 (GRCm39) missense possibly damaging 0.95
R2022:Fam120b UTSW 17 15,644,638 (GRCm39) missense possibly damaging 0.70
R3411:Fam120b UTSW 17 15,651,897 (GRCm39) splice site probably benign
R4422:Fam120b UTSW 17 15,622,445 (GRCm39) missense probably damaging 1.00
R4754:Fam120b UTSW 17 15,643,224 (GRCm39) missense probably damaging 1.00
R4756:Fam120b UTSW 17 15,622,658 (GRCm39) missense probably damaging 1.00
R4883:Fam120b UTSW 17 15,623,294 (GRCm39) missense probably benign
R5400:Fam120b UTSW 17 15,623,388 (GRCm39) missense possibly damaging 0.55
R5418:Fam120b UTSW 17 15,622,061 (GRCm39) missense probably damaging 1.00
R5632:Fam120b UTSW 17 15,623,344 (GRCm39) missense probably benign 0.08
R5878:Fam120b UTSW 17 15,622,502 (GRCm39) missense probably damaging 1.00
R6030:Fam120b UTSW 17 15,622,172 (GRCm39) missense probably damaging 1.00
R6030:Fam120b UTSW 17 15,622,172 (GRCm39) missense probably damaging 1.00
R6846:Fam120b UTSW 17 15,635,091 (GRCm39) missense probably damaging 1.00
R6929:Fam120b UTSW 17 15,643,290 (GRCm39) missense possibly damaging 0.78
R7356:Fam120b UTSW 17 15,627,958 (GRCm39) missense probably benign 0.05
R7616:Fam120b UTSW 17 15,623,098 (GRCm39) missense possibly damaging 0.79
R7848:Fam120b UTSW 17 15,626,036 (GRCm39) missense possibly damaging 0.93
R8386:Fam120b UTSW 17 15,643,246 (GRCm39) missense probably benign 0.01
R8782:Fam120b UTSW 17 15,622,472 (GRCm39) missense probably damaging 0.98
R9364:Fam120b UTSW 17 15,626,020 (GRCm39) missense possibly damaging 0.95
R9554:Fam120b UTSW 17 15,626,020 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGCCCTAGTGGGTGAATGGTGAAC -3'
(R):5'- AGCTTCCTACAGTGAGATGGGCAG -3'

Sequencing Primer
(F):5'- CATTCAGAAGCTCTCAGGAGGC -3'
(R):5'- CTAGGCTCATTACAGTGACTGAC -3'
Posted On 2013-07-11