Incidental Mutation 'IGL03380:Fam120b'
ID420671
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam120b
Ensembl Gene ENSMUSG00000014763
Gene Namefamily with sequence similarity 120, member B
SynonymsCCPG, 4932442K08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03380
Quality Score
Status
Chromosome17
Chromosomal Location15396202-15433583 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 15403134 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000054420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055352]
Predicted Effect probably benign
Transcript: ENSMUST00000055352
SMART Domains Protein: ENSMUSP00000054420
Gene: ENSMUSG00000014763

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: ENSMUST00000231318
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,298,574 N2774D probably benign Het
Aldh1a2 T G 9: 71,255,117 Y149* probably null Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap23 A G 11: 97,452,518 D542G probably damaging Het
Atp8a1 T C 5: 67,732,186 E582G probably benign Het
C4b A T 17: 34,740,286 V438D probably benign Het
Caps2 A G 10: 112,200,696 E345G probably benign Het
Cdk19 C T 10: 40,476,912 P308L probably benign Het
Drc3 A G 11: 60,377,905 E307G probably benign Het
Dst G A 1: 34,257,800 A1041T probably damaging Het
Elp2 T C 18: 24,622,480 V428A probably benign Het
Eml5 G T 12: 98,874,647 probably benign Het
Fpr-rs6 G A 17: 20,182,983 L39F possibly damaging Het
Fsd1 T C 17: 55,995,456 I300T probably benign Het
Hsd17b6 T C 10: 127,994,338 probably null Het
Hspa1a T C 17: 34,970,277 K550R probably benign Het
Krba1 A G 6: 48,403,453 H37R possibly damaging Het
Lama2 T C 10: 27,050,265 D2117G probably damaging Het
Map4k2 T C 19: 6,344,590 F332S possibly damaging Het
Mindy1 T C 3: 95,291,018 probably benign Het
Nhsl1 T G 10: 18,523,879 Y284* probably null Het
Olfr1463 T A 19: 13,235,001 F250L probably benign Het
Pkhd1 T A 1: 20,200,670 T3220S probably damaging Het
Pramel7 A T 2: 87,491,372 D106E probably benign Het
Psme3 T C 11: 101,320,026 probably null Het
Rsph1 T C 17: 31,277,236 E7G unknown Het
Slc13a2 T C 11: 78,399,082 T469A probably benign Het
Slc30a9 C T 5: 67,315,711 T46I probably benign Het
Slc37a4 T G 9: 44,400,023 S204A probably benign Het
Slc8b1 T C 5: 120,519,735 F88L probably damaging Het
Smpd3 C T 8: 106,259,659 V504I probably benign Het
Tbx4 A G 11: 85,914,639 N418S probably benign Het
Tmem132c A G 5: 127,536,442 T470A probably benign Het
Tmem207 A T 16: 26,526,657 C20S probably damaging Het
Usp43 G A 11: 67,875,316 A761V possibly damaging Het
Vmn1r191 C T 13: 22,178,885 S233N probably damaging Het
Vmn2r58 T A 7: 41,864,450 E256D probably benign Het
Zc3hav1 T C 6: 38,336,558 Y184C probably damaging Het
Other mutations in Fam120b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Fam120b APN 17 15402595 nonsense probably null
IGL01874:Fam120b APN 17 15403039 nonsense probably null
IGL02111:Fam120b APN 17 15402585 missense possibly damaging 0.67
IGL02395:Fam120b APN 17 15402515 missense probably damaging 1.00
IGL02901:Fam120b APN 17 15407702 splice site probably benign
R0139:Fam120b UTSW 17 15426184 splice site probably benign
R0242:Fam120b UTSW 17 15422924 missense probably damaging 1.00
R0242:Fam120b UTSW 17 15422924 missense probably damaging 1.00
R0244:Fam120b UTSW 17 15417637 missense probably damaging 1.00
R0486:Fam120b UTSW 17 15426288 splice site probably benign
R0551:Fam120b UTSW 17 15431643 splice site probably benign
R0584:Fam120b UTSW 17 15402122 missense probably damaging 1.00
R0620:Fam120b UTSW 17 15402927 missense probably benign
R1606:Fam120b UTSW 17 15401811 missense possibly damaging 0.79
R1638:Fam120b UTSW 17 15402497 missense possibly damaging 0.95
R2022:Fam120b UTSW 17 15424376 missense possibly damaging 0.70
R3411:Fam120b UTSW 17 15431635 splice site probably benign
R4422:Fam120b UTSW 17 15402183 missense probably damaging 1.00
R4754:Fam120b UTSW 17 15422962 missense probably damaging 1.00
R4756:Fam120b UTSW 17 15402396 missense probably damaging 1.00
R4883:Fam120b UTSW 17 15403032 missense probably benign
R5400:Fam120b UTSW 17 15403126 missense possibly damaging 0.55
R5418:Fam120b UTSW 17 15401799 missense probably damaging 1.00
R5632:Fam120b UTSW 17 15403082 missense probably benign 0.08
R5878:Fam120b UTSW 17 15402240 missense probably damaging 1.00
R6030:Fam120b UTSW 17 15401910 missense probably damaging 1.00
R6030:Fam120b UTSW 17 15401910 missense probably damaging 1.00
R6846:Fam120b UTSW 17 15414829 missense probably damaging 1.00
R6929:Fam120b UTSW 17 15423028 missense possibly damaging 0.78
R7356:Fam120b UTSW 17 15407696 missense probably benign 0.05
R7616:Fam120b UTSW 17 15402836 missense possibly damaging 0.79
R7848:Fam120b UTSW 17 15405774 missense possibly damaging 0.93
R7931:Fam120b UTSW 17 15405774 missense possibly damaging 0.93
Posted On2016-08-02