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
MMRRC Submission 040872-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock # R1525 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 5644090-6108223 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5799578 bp (GRCm38)
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] [ENSMUST00000156582] [ENSMUST00000171403]
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 probably benign
Transcript: ENSMUST00000156582
SMART Domains Protein: ENSMUSP00000122351
Gene: ENSMUSG00000049119

DomainStartEndE-ValueType
Pfam:FAM110_N 11 87 4e-45 PFAM
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
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
1700015F17Rik C A 5: 5,452,019 W144C probably benign Het
4931440F15Rik A C 11: 29,823,994 Y488D probably benign Het
Abcc3 A T 11: 94,361,236 H840Q probably benign Het
Amotl2 C T 9: 102,728,568 R540C probably damaging Het
Brpf1 A G 6: 113,317,154 E605G probably damaging Het
Cacna2d3 T C 14: 28,972,242 I865V probably benign Het
Cdh24 A T 14: 54,638,589 F199I probably damaging Het
Cdk9 A G 2: 32,710,509 V27A probably damaging Het
Cfap69 G T 5: 5,640,230 probably null Het
Cyp2d11 G T 15: 82,389,297 L458I probably damaging Het
Dchs1 T C 7: 105,758,931 E1898G probably damaging Het
Dennd4b G T 3: 90,270,870 L456F probably damaging Het
Dgat1 T C 15: 76,511,586 T66A probably benign Het
Dock10 C A 1: 80,606,164 probably null Het
Frmd4b G A 6: 97,296,386 P628S probably damaging Het
Ice1 A T 13: 70,605,410 H852Q probably benign Het
Il17ra T C 6: 120,473,790 V116A probably damaging Het
Ints9 T C 14: 64,995,011 I173T probably benign Het
Kctd14 A T 7: 97,457,867 M110L probably benign Het
Krt6a T G 15: 101,694,202 Y16S probably benign Het
Lamc2 T C 1: 153,130,756 N883S probably benign Het
Larp4b C T 13: 9,145,450 T195M probably damaging Het
Lrp1 A G 10: 127,539,529 L4432P probably damaging Het
Mei4 T C 9: 81,890,199 S22P probably damaging Het
Mep1a T C 17: 43,491,636 Q166R probably damaging Het
Mroh2b C A 15: 4,951,130 probably null Het
Myoc T G 1: 162,648,651 L308R probably damaging Het
Ndn C T 7: 62,348,508 P34L probably benign Het
Olfr1188 C G 2: 88,559,641 S57R probably damaging Het
Olfr50 A T 2: 36,794,143 R302S probably null Het
Olfr720 T A 14: 14,175,725 Y119F probably damaging Het
Pdilt T A 7: 119,487,994 T478S probably damaging Het
Pias1 T C 9: 62,920,487 K222E probably damaging Het
Prss16 A C 13: 22,009,443 L61V possibly damaging Het
Pvr G A 7: 19,910,626 Q328* probably null Het
Ranbp3 A G 17: 56,710,865 D481G possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,908 probably benign Het
Ryr3 G T 2: 112,678,090 D3419E probably damaging Het
Scn1a C T 2: 66,319,462 W946* probably null Het
Sh3pxd2a T C 19: 47,278,425 K242E probably damaging Het
Slc34a2 A G 5: 53,069,506 D657G probably benign Het
Stard9 T A 2: 120,702,052 I2930K probably benign Het
Syna T C 5: 134,559,258 D279G probably benign Het
Tfr2 T C 5: 137,579,030 F415L probably benign Het
Tmem97 T A 11: 78,542,760 Y103F probably damaging Het
Tmem97 A T 11: 78,542,761 Y103N probably damaging Het
Txndc2 T A 17: 65,638,315 D289V probably damaging Het
Zbtb1 T G 12: 76,386,432 D397E probably benign Het
Zc3h18 T C 8: 122,413,938 S847P probably benign Het
Zfp382 G A 7: 30,133,719 G265E probably damaging Het
Zfp410 T C 12: 84,322,966 L39S probably damaging Het
Zfp729a G T 13: 67,619,321 P930T probably benign Het
Other mutations in Fam110b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Fam110b APN 4 5799461 missense possibly damaging 0.55
IGL01981:Fam110b APN 4 5799481 missense probably benign 0.00
IGL03022:Fam110b APN 4 5799448 missense probably benign 0.00
R1033:Fam110b UTSW 4 5799440 missense probably benign 0.06
R1127:Fam110b UTSW 4 5799434 missense probably damaging 1.00
R1824:Fam110b UTSW 4 5799029 missense probably benign 0.01
R1894:Fam110b UTSW 4 5798840 missense probably damaging 0.99
R2032:Fam110b UTSW 4 5799460 missense probably benign 0.09
R4471:Fam110b UTSW 4 5799092 missense probably benign
R5436:Fam110b UTSW 4 5799104 missense probably benign 0.45
R5640:Fam110b UTSW 4 5798689 missense probably damaging 1.00
R7291:Fam110b UTSW 4 5798895 missense probably benign 0.03
R8037:Fam110b UTSW 4 5799511 missense possibly damaging 0.94
R8515:Fam110b UTSW 4 5799380 missense probably benign 0.00
R8873:Fam110b UTSW 4 5799103 nonsense probably null
R9557:Fam110b UTSW 4 5799064 missense probably damaging 1.00
R9740:Fam110b UTSW 4 5799070 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