Incidental Mutation 'R4234:Fam107b'
ID320995
Institutional Source Beutler Lab
Gene Symbol Fam107b
Ensembl Gene ENSMUSG00000026655
Gene Namefamily with sequence similarity 107, member B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4234 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location3570488-3782142 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3770740 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 3 (S3P)
Ref Sequence ENSEMBL: ENSMUSP00000135325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027965] [ENSMUST00000115052] [ENSMUST00000115053] [ENSMUST00000115054] [ENSMUST00000115055] [ENSMUST00000176254] [ENSMUST00000177037] [ENSMUST00000177125] [ENSMUST00000226435]
Predicted Effect probably benign
Transcript: ENSMUST00000027965
SMART Domains Protein: ENSMUSP00000027965
Gene: ENSMUSG00000026655

DomainStartEndE-ValueType
Pfam:DUF1151 1 120 3.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115052
SMART Domains Protein: ENSMUSP00000110704
Gene: ENSMUSG00000026655

DomainStartEndE-ValueType
Pfam:DUF1151 29 142 3.4e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115053
SMART Domains Protein: ENSMUSP00000110705
Gene: ENSMUSG00000026655

DomainStartEndE-ValueType
Pfam:DUF1151 1 120 3.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115054
SMART Domains Protein: ENSMUSP00000110706
Gene: ENSMUSG00000026655

DomainStartEndE-ValueType
Pfam:DUF1151 1 120 3.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115055
SMART Domains Protein: ENSMUSP00000110707
Gene: ENSMUSG00000026655

DomainStartEndE-ValueType
Pfam:DUF1151 1 120 3.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176254
SMART Domains Protein: ENSMUSP00000135846
Gene: ENSMUSG00000026655

DomainStartEndE-ValueType
Pfam:DUF1151 1 64 2.6e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177037
AA Change: S3P

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135325
Gene: ENSMUSG00000026655
AA Change: S3P

DomainStartEndE-ValueType
Pfam:DUF1151 29 68 3.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177125
Predicted Effect probably benign
Transcript: ENSMUST00000226435
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 70,394,529 A53T probably benign Het
Ahnak A T 19: 9,000,786 K90* probably null Het
Ajuba T C 14: 54,569,526 R490G probably damaging Het
Akap6 T A 12: 53,139,671 N1289K probably damaging Het
Ankfy1 G A 11: 72,714,484 probably null Het
Ap3s1 A T 18: 46,779,200 T96S probably benign Het
Arhgap21 A G 2: 20,887,137 V161A probably damaging Het
Arhgef18 T C 8: 3,450,317 I541T possibly damaging Het
Aspg T A 12: 112,123,316 Y429* probably null Het
Atg14 T C 14: 47,551,345 K184E probably benign Het
BC034090 C T 1: 155,241,580 G264D probably benign Het
Casp8 T C 1: 58,844,770 V432A probably damaging Het
Cerk T C 15: 86,142,788 K174E probably benign Het
Col19a1 T C 1: 24,315,395 probably null Het
Cyp2c23 G T 19: 44,029,165 T8K unknown Het
Ddx1 C T 12: 13,223,857 V590I possibly damaging Het
Dok4 T C 8: 94,865,664 E232G probably damaging Het
Dpf1 T C 7: 29,315,632 S304P probably damaging Het
Dpyd T A 3: 119,431,584 I1002N probably damaging Het
Gm1527 G A 3: 28,914,366 G189D probably damaging Het
Hspa12b T C 2: 131,139,012 V162A probably benign Het
Lix1l T A 3: 96,623,657 probably null Het
Mdc1 T C 17: 35,848,824 C658R probably benign Het
Mrps30 T C 13: 118,386,840 D132G probably damaging Het
Myh15 G T 16: 49,163,042 V1507L probably benign Het
Nfe2l1 T C 11: 96,819,909 D210G probably damaging Het
Notch3 T A 17: 32,141,341 I1539F probably damaging Het
Pcdhac1 A C 18: 37,090,958 S275R probably damaging Het
Pcdhga5 A G 18: 37,695,948 D483G possibly damaging Het
Ralgapa1 C T 12: 55,640,644 R2019Q probably damaging Het
Rbbp5 A G 1: 132,484,758 T20A probably benign Het
Rere T C 4: 150,617,405 V1414A probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Ryr3 G T 2: 112,910,407 N538K probably damaging Het
Serpina3j C A 12: 104,315,186 T206K probably benign Het
Skint11 C A 4: 114,244,659 Q99K probably benign Het
Slc27a5 C A 7: 12,988,443 C416F probably benign Het
Tas2r140 A T 6: 133,054,952 V281D probably damaging Het
Tex30 A T 1: 44,091,512 I32K possibly damaging Het
Trpc2 T C 7: 102,088,135 I752T possibly damaging Het
Wnk2 A G 13: 49,061,128 V1314A probably benign Het
Other mutations in Fam107b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Fam107b APN 2 3778528 missense probably damaging 1.00
IGL03377:Fam107b APN 2 3778444 missense probably damaging 1.00
R4021:Fam107b UTSW 2 3778474 missense probably damaging 1.00
R4841:Fam107b UTSW 2 3778543 missense probably damaging 1.00
R4842:Fam107b UTSW 2 3778543 missense probably damaging 1.00
R4938:Fam107b UTSW 2 3772870 missense probably benign 0.00
R5557:Fam107b UTSW 2 3770754 nonsense probably null
R5754:Fam107b UTSW 2 3778420 missense probably damaging 1.00
R5892:Fam107b UTSW 2 3778564 missense probably damaging 1.00
R5996:Fam107b UTSW 2 3779630 unclassified probably null
R7634:Fam107b UTSW 2 3770740 missense possibly damaging 0.67
R7652:Fam107b UTSW 2 3772847 missense probably benign 0.00
R7664:Fam107b UTSW 2 3570710 missense probably damaging 0.98
R7672:Fam107b UTSW 2 3772922 missense probably damaging 1.00
X0027:Fam107b UTSW 2 3778467 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTTTATGGAAGCAGGCAGC -3'
(R):5'- ACCCAGGTTTGCCAAACTGC -3'

Sequencing Primer
(F):5'- GCAGGCAGCATACTTTGTCTACTG -3'
(R):5'- GCTACTAAATGTCTAAAGACCAAGTC -3'
Posted On2015-06-12