Incidental Mutation 'IGL01346:Fam76b'
ID 75045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam76b
Ensembl Gene ENSMUSG00000037808
Gene Name family with sequence similarity 76, member B
Synonyms 2810485I05Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.536) question?
Stock # IGL01346
Quality Score
Status
Chromosome 9
Chromosomal Location 13739012-13766283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13741046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 60 (C60R)
Ref Sequence ENSEMBL: ENSMUSP00000115751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034398] [ENSMUST00000059579] [ENSMUST00000134746] [ENSMUST00000142494] [ENSMUST00000144484] [ENSMUST00000156680] [ENSMUST00000147115] [ENSMUST00000148086]
AlphaFold Q80XP8
Predicted Effect probably benign
Transcript: ENSMUST00000034398
SMART Domains Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Cep57_CLD 68 245 9.8e-67 PFAM
low complexity region 259 271 N/A INTRINSIC
Pfam:Cep57_MT_bd 348 420 2.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000059579
AA Change: C60R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062642
Gene: ENSMUSG00000037808
AA Change: C60R

DomainStartEndE-ValueType
Pfam:FAM76 6 328 8.4e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129861
Predicted Effect probably benign
Transcript: ENSMUST00000134746
SMART Domains Protein: ENSMUSP00000116713
Gene: ENSMUSG00000031922

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Cep57_CLD 68 209 1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142494
SMART Domains Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Cep57_CLD 68 245 3.3e-72 PFAM
low complexity region 259 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144484
SMART Domains Protein: ENSMUSP00000114940
Gene: ENSMUSG00000031922

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000156680
AA Change: C60R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115751
Gene: ENSMUSG00000037808
AA Change: C60R

DomainStartEndE-ValueType
low complexity region 148 160 N/A INTRINSIC
low complexity region 167 191 N/A INTRINSIC
low complexity region 216 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147115
SMART Domains Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Cep57_CLD 68 245 2.1e-72 PFAM
low complexity region 254 275 N/A INTRINSIC
Pfam:Cep57_MT_bd 319 394 1.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148086
SMART Domains Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922

DomainStartEndE-ValueType
Pfam:Cep57_CLD 41 218 1e-71 PFAM
low complexity region 232 244 N/A INTRINSIC
Pfam:Cep57_MT_bd 318 393 6e-24 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null Het
Other mutations in Fam76b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Fam76b APN 9 13,748,180 (GRCm39) missense possibly damaging 0.76
IGL02100:Fam76b APN 9 13,755,416 (GRCm39) intron probably benign
IGL02194:Fam76b APN 9 13,744,274 (GRCm39) missense probably damaging 1.00
IGL02307:Fam76b APN 9 13,755,332 (GRCm39) missense probably damaging 0.98
IGL02892:Fam76b APN 9 13,740,117 (GRCm39) missense probably null 1.00
R1652:Fam76b UTSW 9 13,747,188 (GRCm39) missense probably benign
R1966:Fam76b UTSW 9 13,739,362 (GRCm39) splice site probably null
R3080:Fam76b UTSW 9 13,744,458 (GRCm39) missense probably benign 0.02
R7082:Fam76b UTSW 9 13,744,308 (GRCm39) missense probably damaging 1.00
R8248:Fam76b UTSW 9 13,742,398 (GRCm39) missense probably damaging 1.00
R8402:Fam76b UTSW 9 13,750,972 (GRCm39) missense probably damaging 0.99
R8836:Fam76b UTSW 9 13,755,381 (GRCm39) missense probably benign
R9280:Fam76b UTSW 9 13,751,012 (GRCm39) missense possibly damaging 0.46
Posted On 2013-10-07