Incidental Mutation 'R3080:Fam76b'
ID 265388
Institutional Source Beutler Lab
Gene Symbol Fam76b
Ensembl Gene ENSMUSG00000037808
Gene Name family with sequence similarity 76, member B
Synonyms 2810485I05Rik
MMRRC Submission 040570-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.536) question?
Stock # R3080 (G1)
Quality Score 181
Status Not validated
Chromosome 9
Chromosomal Location 13739012-13766283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13744458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 185 (G185D)
Ref Sequence ENSEMBL: ENSMUSP00000115751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059579] [ENSMUST00000156680] [ENSMUST00000213416]
AlphaFold Q80XP8
Predicted Effect probably benign
Transcript: ENSMUST00000059579
AA Change: G185D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000062642
Gene: ENSMUSG00000037808
AA Change: G185D

DomainStartEndE-ValueType
Pfam:FAM76 6 328 8.4e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130106
Predicted Effect probably benign
Transcript: ENSMUST00000156680
AA Change: G185D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000115751
Gene: ENSMUSG00000037808
AA Change: G185D

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: ENSMUST00000213416
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amer3 T G 1: 34,627,503 (GRCm39) L581V probably benign Het
Anks4b A T 7: 119,781,146 (GRCm39) D59V probably damaging Het
Cdc42bpb A G 12: 111,262,252 (GRCm39) I75T probably damaging Het
Ces1c A C 8: 93,846,975 (GRCm39) L93R probably damaging Het
Ciao2b G C 8: 105,368,259 (GRCm39) R22G possibly damaging Het
Clca4a T A 3: 144,669,551 (GRCm39) K333N probably damaging Het
Copa G T 1: 171,940,716 (GRCm39) D710Y probably damaging Het
Cyp3a25 T A 5: 145,935,341 (GRCm39) I92F probably benign Het
Dcx T A X: 142,706,266 (GRCm39) D175V probably damaging Het
Fastkd5 T C 2: 130,457,373 (GRCm39) M406V possibly damaging Het
Fbn2 G A 18: 58,282,122 (GRCm39) S298L probably damaging Het
Gak T C 5: 108,761,468 (GRCm39) K188E possibly damaging Het
Gemin2 G A 12: 59,071,877 (GRCm39) C230Y probably damaging Het
Gm5150 A C 3: 16,045,085 (GRCm39) S47A possibly damaging Het
H3c2 A G 13: 23,936,481 (GRCm39) H40R possibly damaging Het
Herc3 A T 6: 58,833,631 (GRCm39) probably null Het
Ighv5-6 T A 12: 113,589,237 (GRCm39) D81V probably damaging Het
Igkv13-54-1 A G 6: 69,594,454 (GRCm39) probably null Het
Itgad T C 7: 127,784,959 (GRCm39) I288T possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Ltbp3 GTA GTATA 19: 5,806,916 (GRCm39) probably null Het
Map4k2 G A 19: 6,403,218 (GRCm39) E774K probably damaging Het
Mbtps1 A G 8: 120,257,944 (GRCm39) V431A probably benign Het
Mbtps1 T C 8: 120,265,602 (GRCm39) D315G probably damaging Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or14j4 T C 17: 37,921,169 (GRCm39) T158A probably benign Het
Or6d14 T G 6: 116,534,178 (GRCm39) V264G probably damaging Het
Pcdhb3 T G 18: 37,434,535 (GRCm39) L167R probably damaging Het
Pcdhb8 A T 18: 37,489,219 (GRCm39) E299V probably damaging Het
Shcbp1l A G 1: 153,311,783 (GRCm39) E312G possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc1a2 T G 2: 102,578,901 (GRCm39) L272R probably damaging Het
Slc35a5 A T 16: 44,964,758 (GRCm39) S152T probably benign Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tbr1 C T 2: 61,637,635 (GRCm39) Q65* probably null Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Vmn1r222 A G 13: 23,416,631 (GRCm39) M194T possibly damaging Het
Vmn2r1 A G 3: 63,997,205 (GRCm39) D287G probably damaging Het
Vmn2r91 T G 17: 18,355,973 (GRCm39) probably null Het
Zfp35 T A 18: 24,136,367 (GRCm39) I237N probably damaging Het
Other mutations in Fam76b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Fam76b APN 9 13,748,180 (GRCm39) missense possibly damaging 0.76
IGL01346:Fam76b APN 9 13,741,046 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGAGCCAGTTTGCAAGTG -3'
(R):5'- CAGAGTATATAATTGGGGCACAGC -3'

Sequencing Primer
(F):5'- AAGTGCACTTACGCAGCTG -3'
(R):5'- GCCAGATAAGAAAAGCAAGACATC -3'
Posted On 2015-02-05