Incidental Mutation 'R1033:Fam110b'
ID 95215
Institutional Source Beutler Lab
Gene Symbol Fam110b
Ensembl Gene ENSMUSG00000049119
Gene Name family with sequence similarity 110, member B
Synonyms 1700012H17Rik
MMRRC Submission 039132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R1033 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 5644009-5801101 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5799440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 286 (N286I)
Ref Sequence ENSEMBL: ENSMUSP00000127942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054857] [ENSMUST00000108380] [ENSMUST00000171403] [ENSMUST00000156582]
AlphaFold Q8C739
Predicted Effect probably benign
Transcript: ENSMUST00000054857
AA Change: N286I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000062734
Gene: ENSMUSG00000049119
AA Change: N286I

DomainStartEndE-ValueType
Pfam:FAM110_N 11 118 1.6e-56 PFAM
low complexity region 127 141 N/A INTRINSIC
low complexity region 215 233 N/A INTRINSIC
Pfam:FAM110_C 247 358 2.2e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108380
AA Change: N286I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104017
Gene: ENSMUSG00000049119
AA Change: N286I

DomainStartEndE-ValueType
Pfam:FAM110_N 13 118 4.8e-50 PFAM
low complexity region 127 141 N/A INTRINSIC
low complexity region 215 233 N/A INTRINSIC
Pfam:FAM110_C 249 357 1.5e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145365
Predicted Effect probably benign
Transcript: ENSMUST00000171403
AA Change: N286I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127942
Gene: ENSMUSG00000049119
AA Change: N286I

DomainStartEndE-ValueType
Pfam:FAM110_N 11 118 1.6e-56 PFAM
low complexity region 127 141 N/A INTRINSIC
low complexity region 215 233 N/A INTRINSIC
Pfam:FAM110_C 247 358 2.2e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156582
SMART Domains Protein: ENSMUSP00000122351
Gene: ENSMUSG00000049119

DomainStartEndE-ValueType
Pfam:FAM110_N 11 87 4e-45 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Akap6 A C 12: 53,116,005 (GRCm39) D1036A probably damaging Het
Alg6 T C 4: 99,650,270 (GRCm39) S497P probably benign Het
Arhgap10 T A 8: 77,983,976 (GRCm39) I700L possibly damaging Het
Atp11a A G 8: 12,878,555 (GRCm39) Y377C probably damaging Het
Atp2b2 A T 6: 113,770,849 (GRCm39) probably null Het
Card14 T A 11: 119,229,196 (GRCm39) V702D probably damaging Het
Ccdc17 C T 4: 116,454,077 (GRCm39) R32* probably null Het
Cdh20 A T 1: 110,012,783 (GRCm39) D372V probably damaging Het
Cfap54 A T 10: 92,675,311 (GRCm39) I2870N probably benign Het
Cped1 G T 6: 22,016,950 (GRCm39) V100F probably damaging Het
Dapk1 T C 13: 60,869,679 (GRCm39) probably null Het
Exoc4 G A 6: 33,242,922 (GRCm39) G45D probably damaging Het
Fbxo10 A T 4: 45,062,236 (GRCm39) C97S probably damaging Het
Frem3 A T 8: 81,421,786 (GRCm39) H2062L probably benign Het
Frk T C 10: 34,484,454 (GRCm39) C476R probably damaging Het
Gm10542 A G 18: 44,337,668 (GRCm39) T49A probably benign Het
Gm128 A G 3: 95,147,322 (GRCm39) V324A possibly damaging Het
Gpr141 C T 13: 19,935,880 (GRCm39) M298I probably benign Het
Gxylt1 T C 15: 93,142,958 (GRCm39) E369G probably benign Het
Hpse2 A G 19: 42,901,638 (GRCm39) V368A probably benign Het
Ice1 A T 13: 70,754,713 (GRCm39) S458T probably damaging Het
Itgb7 T A 15: 102,131,989 (GRCm39) D198V probably damaging Het
Kcnk10 A G 12: 98,484,929 (GRCm39) V72A possibly damaging Het
Magel2 A G 7: 62,029,798 (GRCm39) M901V unknown Het
Mgam A T 6: 40,657,558 (GRCm39) Y971F probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mug1 A T 6: 121,857,510 (GRCm39) D1078V probably damaging Het
Myom2 G A 8: 15,158,934 (GRCm39) R870H probably benign Het
Nek8 A T 11: 78,062,111 (GRCm39) L71Q probably null Het
Nox4 T A 7: 87,023,621 (GRCm39) D502E probably damaging Het
Nsmaf G A 4: 6,438,054 (GRCm39) P73S probably damaging Het
Nup205 C T 6: 35,204,377 (GRCm39) A1421V probably benign Het
Nxpe4 T C 9: 48,304,533 (GRCm39) F207L probably damaging Het
Or1p1 A C 11: 74,179,492 (GRCm39) T7P probably damaging Het
Or3a1 A C 11: 74,225,462 (GRCm39) N198K possibly damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Or5al7 A G 2: 85,993,194 (GRCm39) I33T possibly damaging Het
Pals2 T C 6: 50,160,716 (GRCm39) Y326H probably damaging Het
Prkdc T C 16: 15,585,815 (GRCm39) L2451P probably damaging Het
Rad51ap2 C T 12: 11,506,252 (GRCm39) S58F probably damaging Het
Rbbp8 A G 18: 11,875,762 (GRCm39) R892G probably benign Het
Rock1 A G 18: 10,067,535 (GRCm39) S1333P probably benign Het
Rpl7 A G 1: 16,172,728 (GRCm39) I197T probably benign Het
Sar1a C A 10: 61,521,395 (GRCm39) Q81K probably damaging Het
Shank1 A T 7: 44,006,220 (GRCm39) H1979L possibly damaging Het
Slc10a2 C T 8: 5,154,889 (GRCm39) V99M probably damaging Het
Slc22a30 G A 19: 8,313,165 (GRCm39) Q436* probably null Het
Spata31e2 G A 1: 26,721,466 (GRCm39) P1238L probably benign Het
Speer4a2 T C 5: 26,294,125 (GRCm39) K18E probably benign Het
Szt2 C T 4: 118,244,303 (GRCm39) R1305H probably damaging Het
Ubash3a G A 17: 31,427,186 (GRCm39) G32S probably damaging Het
Vmn1r200 G A 13: 22,580,060 (GRCm39) D279N probably damaging Het
Zbtb8a T C 4: 129,248,014 (GRCm39) D419G possibly damaging Het
Other mutations in Fam110b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Fam110b APN 4 5,799,461 (GRCm39) missense possibly damaging 0.55
IGL01981:Fam110b APN 4 5,799,481 (GRCm39) missense probably benign 0.00
IGL03022:Fam110b APN 4 5,799,448 (GRCm39) missense probably benign 0.00
R1127:Fam110b UTSW 4 5,799,434 (GRCm39) missense probably damaging 1.00
R1525:Fam110b UTSW 4 5,799,578 (GRCm39) missense possibly damaging 0.90
R1824:Fam110b UTSW 4 5,799,029 (GRCm39) missense probably benign 0.01
R1894:Fam110b UTSW 4 5,798,840 (GRCm39) missense probably damaging 0.99
R2032:Fam110b UTSW 4 5,799,460 (GRCm39) missense probably benign 0.09
R4471:Fam110b UTSW 4 5,799,092 (GRCm39) missense probably benign
R5436:Fam110b UTSW 4 5,799,104 (GRCm39) missense probably benign 0.45
R5640:Fam110b UTSW 4 5,798,689 (GRCm39) missense probably damaging 1.00
R7291:Fam110b UTSW 4 5,798,895 (GRCm39) missense probably benign 0.03
R8037:Fam110b UTSW 4 5,799,511 (GRCm39) missense possibly damaging 0.94
R8515:Fam110b UTSW 4 5,799,380 (GRCm39) missense probably benign 0.00
R8873:Fam110b UTSW 4 5,799,103 (GRCm39) nonsense probably null
R9557:Fam110b UTSW 4 5,799,064 (GRCm39) missense probably damaging 1.00
R9740:Fam110b UTSW 4 5,799,070 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AAAGTGACCAGTGTGAAGCCCC -3'
(R):5'- TGGAGAAGCTCACAACACTTCAAGG -3'

Sequencing Primer
(F):5'- GTGTGAAGCCCCTTAAAGCC -3'
(R):5'- GTGGGACACCTTCTGTGACTC -3'
Posted On 2014-01-05