Incidental Mutation 'R1116:Fam178b'
ID97221
Institutional Source Beutler Lab
Gene Symbol Fam178b
Ensembl Gene ENSMUSG00000046337
Gene Namefamily with sequence similarity 178, member B
Synonyms1700024G10Rik, LOC381337
MMRRC Submission 039189-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #R1116 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location36562692-36683183 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 36578588 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 82 (C82*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170295]
Predicted Effect probably null
Transcript: ENSMUST00000170295
AA Change: C413*
SMART Domains Protein: ENSMUSP00000132846
Gene: ENSMUSG00000046337
AA Change: C413*

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
low complexity region 33 44 N/A INTRINSIC
Pfam:FAM178 86 385 1e-130 PFAM
low complexity region 395 410 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193763
Predicted Effect probably null
Transcript: ENSMUST00000194025
AA Change: C82*
Predicted Effect unknown
Transcript: ENSMUST00000194839
AA Change: S137T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195729
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.8%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A T 10: 3,120,180 noncoding transcript Het
Abi3bp T C 16: 56,686,429 probably benign Het
Acacb C T 5: 114,210,956 P1028S probably damaging Het
Acad10 A G 5: 121,630,751 F717S probably damaging Het
Adgrg6 A T 10: 14,438,428 Y705N probably benign Het
Adm A G 7: 110,628,294 I6V probably benign Het
Agps T G 2: 75,861,925 probably benign Het
Atr C T 9: 95,867,636 Q501* probably null Het
Cacna2d3 A G 14: 29,064,321 probably benign Het
Ccnt1 G A 15: 98,544,338 R350W probably damaging Het
Cfap74 G A 4: 155,433,996 E564K probably benign Het
Clip1 T C 5: 123,579,491 E1250G probably damaging Het
Cryz A C 3: 154,621,603 probably benign Het
Dnah1 C A 14: 31,307,867 V494F probably benign Het
Dpep3 G T 8: 105,978,829 D96E probably damaging Het
Dyrk3 G A 1: 131,129,182 A418V probably damaging Het
Ehf T A 2: 103,267,009 N231I probably damaging Het
Eif4g3 T C 4: 138,091,775 probably null Het
Ergic3 G A 2: 156,016,787 V278M probably benign Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Gm1647 C T 3: 69,156,872 Q31* probably null Het
Got1 T A 19: 43,502,974 K346* probably null Het
Grid2ip G A 5: 143,382,914 G656D possibly damaging Het
Grm2 A G 9: 106,647,927 Y530H probably damaging Het
Hyou1 T C 9: 44,384,681 I381T probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
March11 T C 15: 26,409,295 L360P probably damaging Het
Mettl17 T C 14: 51,889,598 V281A probably benign Het
Micu2 A T 14: 57,954,200 D131E probably benign Het
Mug1 G C 6: 121,870,645 V661L probably benign Het
Myo18b A T 5: 112,803,279 D1488E probably damaging Het
Nkg7 G A 7: 43,437,454 V51I probably benign Het
Nlgn1 A C 3: 25,433,874 S766A probably benign Het
Olfr462 T A 11: 87,889,408 M163L probably benign Het
Otog T C 7: 46,300,601 probably benign Het
Pax2 T C 19: 44,757,424 S11P probably damaging Het
Pck2 A G 14: 55,545,366 D392G probably benign Het
Plxnd1 A T 6: 115,967,005 probably null Het
Prkdc A G 16: 15,783,079 D2868G probably benign Het
Prl3d2 T C 13: 27,126,002 L149P probably damaging Het
Purg A T 8: 33,386,745 H137L probably benign Het
Slc38a8 A T 8: 119,496,133 L150Q probably damaging Het
Tifab T A 13: 56,176,212 R139S possibly damaging Het
Txndc16 T C 14: 45,162,985 H353R probably benign Het
Upk2 A G 9: 44,453,789 probably null Het
Zdhhc25 G A 15: 88,600,620 V53I probably benign Het
Zfp738 T A 13: 67,670,243 probably null Het
Zfp810 C T 9: 22,279,085 E176K probably benign Het
Zfp846 T A 9: 20,593,263 W140R possibly damaging Het
Other mutations in Fam178b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Fam178b APN 1 36564403 missense possibly damaging 0.90
IGL01128:Fam178b APN 1 36644354 missense probably damaging 1.00
IGL01859:Fam178b APN 1 36659365 missense probably damaging 1.00
R0398:Fam178b UTSW 1 36632406 splice site probably benign
R1613:Fam178b UTSW 1 36600192 missense probably benign 0.01
R1623:Fam178b UTSW 1 36644324 missense probably damaging 1.00
R2276:Fam178b UTSW 1 36632458 missense probably damaging 1.00
R3706:Fam178b UTSW 1 36608448 missense probably damaging 1.00
R4535:Fam178b UTSW 1 36600525 missense probably benign 0.43
R4784:Fam178b UTSW 1 36632415 splice site probably null
R5372:Fam178b UTSW 1 36564848 missense possibly damaging 0.95
R5431:Fam178b UTSW 1 36632485 missense probably damaging 1.00
R6808:Fam178b UTSW 1 36600135 missense probably damaging 1.00
R7117:Fam178b UTSW 1 36600467 missense probably benign 0.04
R7308:Fam178b UTSW 1 36659407 missense probably benign
R7573:Fam178b UTSW 1 36632452 missense probably damaging 1.00
R7678:Fam178b UTSW 1 36564451 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAAGAATACTGAGCGTCTCCTCC -3'
(R):5'- AGGTGGATTCTGACCTGGAAGCTG -3'

Sequencing Primer
(F):5'- TCCTCCTCATACAGAGGGC -3'
(R):5'- GAAGCTGGGGCGCTGAG -3'
Posted On2014-01-05