Incidental Mutation 'R1525:Fam110b'
ID 167768
Institutional Source Beutler Lab
Gene Symbol Fam110b
Ensembl Gene ENSMUSG00000049119
Gene Name family with sequence similarity 110, member B
Synonyms 1700012H17Rik
MMRRC Submission 040872-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R1525 (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 G at 5799578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 332 (D332G)
Ref Sequence ENSEMBL: ENSMUSP00000127942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054857] [ENSMUST00000108380] [ENSMUST00000171403] [ENSMUST00000156582]
AlphaFold Q8C739
Predicted Effect possibly damaging
Transcript: ENSMUST00000054857
AA Change: D332G

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062734
Gene: ENSMUSG00000049119
AA Change: D332G

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 possibly damaging
Transcript: ENSMUST00000108380
AA Change: D332G

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104017
Gene: ENSMUSG00000049119
AA Change: D332G

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 possibly damaging
Transcript: ENSMUST00000171403
AA Change: D332G

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127942
Gene: ENSMUSG00000049119
AA Change: D332G

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,252,062 (GRCm39) H840Q probably benign Het
Amotl2 C T 9: 102,605,767 (GRCm39) R540C probably damaging Het
Brpf1 A G 6: 113,294,115 (GRCm39) E605G probably damaging Het
Cacna2d3 T C 14: 28,694,199 (GRCm39) I865V probably benign Het
Cdh24 A T 14: 54,876,046 (GRCm39) F199I probably damaging Het
Cdk9 A G 2: 32,600,521 (GRCm39) V27A probably damaging Het
Cfap69 G T 5: 5,690,230 (GRCm39) probably null Het
Cyp2d11 G T 15: 82,273,498 (GRCm39) L458I probably damaging Het
Dchs1 T C 7: 105,408,138 (GRCm39) E1898G probably damaging Het
Dennd4b G T 3: 90,178,177 (GRCm39) L456F probably damaging Het
Dgat1 T C 15: 76,395,786 (GRCm39) T66A probably benign Het
Dock10 C A 1: 80,583,881 (GRCm39) probably null Het
Fem1al A C 11: 29,773,994 (GRCm39) Y488D probably benign Het
Frmd4b G A 6: 97,273,347 (GRCm39) P628S probably damaging Het
Ice1 A T 13: 70,753,529 (GRCm39) H852Q probably benign Het
Il17ra T C 6: 120,450,751 (GRCm39) V116A probably damaging Het
Ints9 T C 14: 65,232,460 (GRCm39) I173T probably benign Het
Kctd14 A T 7: 97,107,074 (GRCm39) M110L probably benign Het
Krt6a T G 15: 101,602,637 (GRCm39) Y16S probably benign Het
Lamc2 T C 1: 153,006,502 (GRCm39) N883S probably benign Het
Larp4b C T 13: 9,195,486 (GRCm39) T195M probably damaging Het
Lrp1 A G 10: 127,375,398 (GRCm39) L4432P probably damaging Het
Mei4 T C 9: 81,772,252 (GRCm39) S22P probably damaging Het
Mep1a T C 17: 43,802,527 (GRCm39) Q166R probably damaging Het
Mroh2b C A 15: 4,980,612 (GRCm39) probably null Het
Myoc T G 1: 162,476,220 (GRCm39) L308R probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Or1j21 A T 2: 36,684,155 (GRCm39) R302S probably null Het
Or2t6 T A 14: 14,175,725 (GRCm38) Y119F probably damaging Het
Or4c101 C G 2: 88,389,985 (GRCm39) S57R probably damaging Het
Pdilt T A 7: 119,087,217 (GRCm39) T478S probably damaging Het
Pias1 T C 9: 62,827,769 (GRCm39) K222E probably damaging Het
Prss16 A C 13: 22,193,613 (GRCm39) L61V possibly damaging Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Pvr G A 7: 19,644,551 (GRCm39) Q328* probably null Het
Ranbp3 A G 17: 57,017,865 (GRCm39) D481G possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,115 (GRCm39) probably benign Het
Ryr3 G T 2: 112,508,435 (GRCm39) D3419E probably damaging Het
Scn1a C T 2: 66,149,806 (GRCm39) W946* probably null Het
Sh3pxd2a T C 19: 47,266,864 (GRCm39) K242E probably damaging Het
Slc34a2 A G 5: 53,226,848 (GRCm39) D657G probably benign Het
Stard9 T A 2: 120,532,533 (GRCm39) I2930K probably benign Het
Syna T C 5: 134,588,112 (GRCm39) D279G probably benign Het
Tfr2 T C 5: 137,577,292 (GRCm39) F415L probably benign Het
Tmem97 T A 11: 78,433,586 (GRCm39) Y103F probably damaging Het
Tmem97 A T 11: 78,433,587 (GRCm39) Y103N probably damaging Het
Txndc2 T A 17: 65,945,310 (GRCm39) D289V probably damaging Het
Zbtb1 T G 12: 76,433,206 (GRCm39) D397E probably benign Het
Zc3h18 T C 8: 123,140,677 (GRCm39) S847P probably benign Het
Zfp382 G A 7: 29,833,144 (GRCm39) G265E probably damaging Het
Zfp410 T C 12: 84,369,740 (GRCm39) L39S probably damaging Het
Zfp729a G T 13: 67,767,440 (GRCm39) P930T probably benign 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
R1033:Fam110b UTSW 4 5,799,440 (GRCm39) missense probably benign 0.06
R1127:Fam110b UTSW 4 5,799,434 (GRCm39) missense probably damaging 1.00
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'- AGAGGTTCTTCAACTACTGCG -3'
(R):5'- TCACAACACTTCAAGGAGACCTC -3'
Posted On 2014-04-13