Incidental Mutation 'R4152:Fam78b'
ID 314933
Institutional Source Beutler Lab
Gene Symbol Fam78b
Ensembl Gene ENSMUSG00000060568
Gene Name family with sequence similarity 78, member B
Synonyms C030014K22Rik, C030020L09Rik
MMRRC Submission 040996-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R4152 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 166828986-166918871 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166906369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 176 (M176T)
Ref Sequence ENSEMBL: ENSMUSP00000139628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126198] [ENSMUST00000156025] [ENSMUST00000165874] [ENSMUST00000190081]
AlphaFold Q8BQN5
Predicted Effect unknown
Transcript: ENSMUST00000122929
AA Change: M171T
Predicted Effect probably benign
Transcript: ENSMUST00000126198
AA Change: M176T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect unknown
Transcript: ENSMUST00000128373
AA Change: M168T
Predicted Effect probably benign
Transcript: ENSMUST00000156025
AA Change: M176T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000165874
AA Change: M176T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000190081
AA Change: M176T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (45/47)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,183,752 (GRCm39) M31R possibly damaging Het
Akap6 A C 12: 53,187,190 (GRCm39) S1535R probably benign Het
Ap3b2 A G 7: 81,127,765 (GRCm39) I137T probably damaging Het
Cdc16 A G 8: 13,812,857 (GRCm39) S36G probably damaging Het
Clcn4 T C 7: 7,297,833 (GRCm39) N67D probably benign Het
Col4a1 T C 8: 11,267,227 (GRCm39) probably null Het
Crem G T 18: 3,288,055 (GRCm39) N179K probably damaging Het
Fcgbpl1 T A 7: 27,856,322 (GRCm39) H2036Q possibly damaging Het
Gcn1 A G 5: 115,751,413 (GRCm39) probably null Het
Gm6483 T C 8: 19,737,926 (GRCm39) noncoding transcript Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klk1b16 T C 7: 43,789,973 (GRCm39) F81S probably benign Het
Lpgat1 C A 1: 191,451,600 (GRCm39) Y36* probably null Het
Mavs A G 2: 131,088,528 (GRCm39) D444G probably benign Het
Ndst3 T C 3: 123,465,876 (GRCm39) Y32C probably damaging Het
Nemp2 A G 1: 52,680,210 (GRCm39) S145G probably benign Het
Or52b1 T C 7: 104,978,592 (GRCm39) N269S probably damaging Het
Or7g20 T A 9: 18,946,816 (GRCm39) Y132* probably null Het
Or8g52 A C 9: 39,631,296 (GRCm39) M258L probably benign Het
Pds5a A T 5: 65,823,514 (GRCm39) C92* probably null Het
Pgk2 A G 17: 40,519,149 (GRCm39) V93A probably damaging Het
Phf3 C T 1: 30,870,539 (GRCm39) V116I probably benign Het
Prl8a2 T C 13: 27,534,985 (GRCm39) Y86H possibly damaging Het
Rab4b T C 7: 26,875,551 (GRCm39) probably benign Het
Rsad1 T C 11: 94,439,449 (GRCm39) probably benign Het
Sim1 G A 10: 50,859,950 (GRCm39) C604Y probably damaging Het
Slc5a3 T A 16: 91,874,696 (GRCm39) L251* probably null Het
Slit3 A G 11: 35,589,147 (GRCm39) N1234S probably damaging Het
Sntg1 A T 1: 8,653,569 (GRCm39) probably null Het
Snx31 T C 15: 36,525,785 (GRCm39) N305D probably benign Het
St14 T C 9: 31,001,802 (GRCm39) I768V probably benign Het
Tep1 G A 14: 51,075,051 (GRCm39) H1755Y possibly damaging Het
Tlr6 A C 5: 65,110,555 (GRCm39) F784C probably damaging Het
Tmem132a A G 19: 10,836,427 (GRCm39) V701A probably benign Het
Tspan15 A T 10: 62,025,621 (GRCm39) M197K possibly damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vegfb T C 19: 6,963,446 (GRCm39) Y106C probably damaging Het
Vmn2r100 AAAACAGGAGTATTGATTGGAAAC AAAAC 17: 19,743,681 (GRCm39) probably null Het
Vmn2r18 T A 5: 151,485,730 (GRCm39) Q588L probably damaging Het
Vmn2r66 T C 7: 84,654,800 (GRCm39) D503G probably benign Het
Zc3h15 T C 2: 83,488,913 (GRCm39) V161A probably benign Het
Other mutations in Fam78b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Fam78b APN 1 166,906,457 (GRCm39) missense probably damaging 1.00
IGL03128:Fam78b APN 1 166,906,510 (GRCm39) missense probably damaging 1.00
IGL03258:Fam78b APN 1 166,906,323 (GRCm39) missense probably damaging 1.00
pacer UTSW 1 166,906,278 (GRCm39) missense probably damaging 1.00
PIT1430001:Fam78b UTSW 1 166,829,313 (GRCm39) missense probably benign 0.12
R1443:Fam78b UTSW 1 166,906,329 (GRCm39) missense probably damaging 0.96
R1475:Fam78b UTSW 1 166,829,346 (GRCm39) missense probably damaging 1.00
R1729:Fam78b UTSW 1 166,829,199 (GRCm39) missense possibly damaging 0.83
R1883:Fam78b UTSW 1 166,829,171 (GRCm39) missense probably benign
R2118:Fam78b UTSW 1 166,906,278 (GRCm39) missense probably damaging 1.00
R2121:Fam78b UTSW 1 166,906,278 (GRCm39) missense probably damaging 1.00
R2122:Fam78b UTSW 1 166,906,278 (GRCm39) missense probably damaging 1.00
R2124:Fam78b UTSW 1 166,906,278 (GRCm39) missense probably damaging 1.00
R2168:Fam78b UTSW 1 166,906,219 (GRCm39) missense probably damaging 1.00
R4167:Fam78b UTSW 1 166,829,301 (GRCm39) missense possibly damaging 0.67
R4439:Fam78b UTSW 1 166,906,491 (GRCm39) missense probably damaging 0.99
R4441:Fam78b UTSW 1 166,906,491 (GRCm39) missense probably damaging 0.99
R4795:Fam78b UTSW 1 166,906,216 (GRCm39) missense probably benign 0.01
R4796:Fam78b UTSW 1 166,906,216 (GRCm39) missense probably benign 0.01
R6268:Fam78b UTSW 1 166,906,122 (GRCm39) missense probably damaging 1.00
R6817:Fam78b UTSW 1 166,906,419 (GRCm39) missense possibly damaging 0.94
R7195:Fam78b UTSW 1 166,906,131 (GRCm39) missense probably damaging 1.00
R7842:Fam78b UTSW 1 166,829,178 (GRCm39) missense probably damaging 1.00
R8708:Fam78b UTSW 1 166,906,332 (GRCm39) missense possibly damaging 0.90
R8803:Fam78b UTSW 1 166,829,160 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCCATCAGTGACTCAGACG -3'
(R):5'- GCTTCACTAGTGCGTTAGGG -3'

Sequencing Primer
(F):5'- TGAGCTACCCATGGTACGG -3'
(R):5'- TGAAGAGGGTCCACTTCA -3'
Posted On 2015-05-14