Incidental Mutation 'R2122:Fam78b'
ID229543
Institutional Source Beutler Lab
Gene Symbol Fam78b
Ensembl Gene ENSMUSG00000060568
Gene Namefamily with sequence similarity 78, member B
SynonymsC030014K22Rik, C030020L09Rik
MMRRC Submission 040126-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #R2122 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location167001417-167091302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 167078709 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 146 (V146M)
Ref Sequence ENSEMBL: ENSMUSP00000139628 (fasta)
Predicted Effect unknown
Transcript: ENSMUST00000122929
AA Change: V141M
Predicted Effect probably damaging
Transcript: ENSMUST00000126198
AA Change: V146M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000128373
AA Change: V138M
Predicted Effect probably damaging
Transcript: ENSMUST00000156025
AA Change: V146M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000165874
AA Change: V146M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000190081
AA Change: V146M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.426 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G T 7: 120,519,961 G975V probably damaging Het
Abcg5 T A 17: 84,671,147 E294D probably benign Het
Actl10 G A 2: 154,552,233 R35H probably damaging Het
Adamts12 C T 15: 11,310,579 T974I probably damaging Het
Ahctf1 C A 1: 179,769,452 R43L probably damaging Het
Arhgef10 A G 8: 14,934,820 D200G probably damaging Het
Arhgef38 T C 3: 133,160,753 K208E probably benign Het
Arhgef7 A T 8: 11,728,256 N2I possibly damaging Het
Blvra T G 2: 127,086,897 S102A probably damaging Het
Btn1a1 A G 13: 23,461,521 L226P probably damaging Het
C2cd4d G T 3: 94,363,618 E64* probably null Het
Ccna2 A G 3: 36,568,726 V209A probably damaging Het
Cd55 T A 1: 130,459,617 D148V possibly damaging Het
Cdh2 G A 18: 16,774,543 P46L probably benign Het
Cldn11 A G 3: 31,163,151 Y156C probably damaging Het
Cmtm2a T C 8: 104,293,023 R12G possibly damaging Het
Cog2 T C 8: 124,528,985 S104P possibly damaging Het
Col4a3 T G 1: 82,654,957 F184V unknown Het
Col4a4 T A 1: 82,456,871 D1406V unknown Het
Col6a1 T C 10: 76,721,498 T207A probably benign Het
Cyp2a12 A G 7: 27,036,646 *493W probably null Het
Dcdc2a T G 13: 25,119,285 S266R possibly damaging Het
Dmd G C X: 84,312,483 A2257P probably benign Het
Ecel1 A G 1: 87,148,275 S727P probably damaging Het
Eif2ak4 T A 2: 118,455,793 V1063E probably damaging Het
Enpp2 A T 15: 54,897,792 Y44* probably null Het
Ep400 A T 5: 110,708,850 probably benign Het
Exoc6b A G 6: 84,621,482 M779T probably benign Het
F13a1 T A 13: 37,025,679 Y104F probably benign Het
Fgf18 A C 11: 33,118,003 F129C probably damaging Het
Fscn3 A G 6: 28,430,389 D186G probably benign Het
Gm5773 G A 3: 93,773,317 G99R possibly damaging Het
Grk1 A T 8: 13,405,221 Y35F probably benign Het
Heatr1 T C 13: 12,403,264 V359A probably benign Het
Hfm1 A G 5: 106,896,255 S567P probably damaging Het
Il1rap A T 16: 26,710,565 H379L probably damaging Het
Kctd5 T C 17: 24,055,966 T212A probably benign Het
Krtap5-5 A T 7: 142,229,503 C137S unknown Het
Lrp2 T C 2: 69,483,707 T2227A probably damaging Het
Ltbp1 T A 17: 75,310,159 V1031E possibly damaging Het
Ltbr A G 6: 125,309,477 S249P probably benign Het
Map1a T A 2: 121,299,446 Y248N probably damaging Het
Mdc1 C T 17: 35,847,943 A405V probably benign Het
Mfsd4b1 T C 10: 40,002,651 K417E possibly damaging Het
Mroh2a T C 1: 88,256,754 V1453A probably benign Het
Myh11 T C 16: 14,218,004 E1027G probably damaging Het
Nudt6 A C 3: 37,412,405 F80L probably benign Het
Nxph1 A G 6: 9,247,791 K254R probably damaging Het
Obsl1 C T 1: 75,493,883 R1043H probably benign Het
Olfr17 A T 7: 107,098,109 I215F probably damaging Het
Pde6d A G 1: 86,545,802 F91L probably benign Het
Phldb2 T A 16: 45,762,941 I1065F probably damaging Het
Ppp1r3a A T 6: 14,721,875 N317K possibly damaging Het
Psmd1 T A 1: 86,078,700 S263T possibly damaging Het
Pum1 C A 4: 130,669,270 T112K possibly damaging Het
Rasgrp2 T A 19: 6,404,395 M156K probably benign Het
Reg3a T C 6: 78,381,136 C17R possibly damaging Het
Ripor2 A G 13: 24,713,718 S800G probably damaging Het
Rnf168 T G 16: 32,278,218 L37R probably damaging Het
Rnf31 A G 14: 55,596,197 D554G probably damaging Het
Rpe T C 1: 66,715,228 M153T probably damaging Het
Sacs A T 14: 61,212,316 Q3937L probably damaging Het
Sap18 T A 14: 57,798,554 S66T probably damaging Het
Slc20a1 T G 2: 129,199,819 I34S possibly damaging Het
Slc25a30 A G 14: 75,770,218 S116P possibly damaging Het
Speer4c T A 5: 15,714,117 D29V possibly damaging Het
Stk40 C T 4: 126,128,847 T138I probably benign Het
Susd3 A G 13: 49,231,150 Y254H probably damaging Het
Tanc2 T C 11: 105,895,949 L858P probably damaging Het
Tas2r106 A T 6: 131,678,354 L178H probably damaging Het
Tfpt C T 7: 3,628,931 R60Q probably damaging Het
Tmem44 T A 16: 30,547,444 K55* probably null Het
Tnfsf9 A T 17: 57,107,316 probably null Het
Ube3c T C 5: 29,619,606 I543T probably benign Het
Ugt1a2 C A 1: 88,201,013 S126Y possibly damaging Het
Vmn1r180 T A 7: 23,953,141 L243Q probably damaging Het
Vmn2r15 A C 5: 109,286,456 V794G probably damaging Het
Vmn2r24 A G 6: 123,815,394 D560G possibly damaging Het
Wdr11 G A 7: 129,631,766 C1028Y probably damaging Het
Zfp318 A G 17: 46,413,371 D2100G probably benign Het
Zfyve16 A T 13: 92,519,483 Y789* probably null Het
Other mutations in Fam78b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Fam78b APN 1 167078888 missense probably damaging 1.00
IGL03128:Fam78b APN 1 167078941 missense probably damaging 1.00
IGL03258:Fam78b APN 1 167078754 missense probably damaging 1.00
pacer UTSW 1 167078709 missense probably damaging 1.00
PIT1430001:Fam78b UTSW 1 167001744 missense probably benign 0.12
R1443:Fam78b UTSW 1 167078760 missense probably damaging 0.96
R1475:Fam78b UTSW 1 167001777 missense probably damaging 1.00
R1729:Fam78b UTSW 1 167001630 missense possibly damaging 0.83
R1883:Fam78b UTSW 1 167001602 missense probably benign
R2118:Fam78b UTSW 1 167078709 missense probably damaging 1.00
R2121:Fam78b UTSW 1 167078709 missense probably damaging 1.00
R2124:Fam78b UTSW 1 167078709 missense probably damaging 1.00
R2168:Fam78b UTSW 1 167078650 missense probably damaging 1.00
R4152:Fam78b UTSW 1 167078800 missense probably benign 0.19
R4167:Fam78b UTSW 1 167001732 missense possibly damaging 0.67
R4439:Fam78b UTSW 1 167078922 missense probably damaging 0.99
R4441:Fam78b UTSW 1 167078922 missense probably damaging 0.99
R4795:Fam78b UTSW 1 167078647 missense probably benign 0.01
R4796:Fam78b UTSW 1 167078647 missense probably benign 0.01
R6268:Fam78b UTSW 1 167078553 missense probably damaging 1.00
R6817:Fam78b UTSW 1 167078850 missense possibly damaging 0.94
R7195:Fam78b UTSW 1 167078562 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGTAAGTGGTGGGCACGTCTC -3'
(R):5'- AAGAGGGTCCACTTCAATGTCC -3'

Sequencing Primer
(F):5'- CTTTTCCAGGTCAAGCTGGGAAC -3'
(R):5'- GGGTCCACTTCAATGTCCACTCTC -3'
Posted On2014-09-17