Incidental Mutation 'R6627:Fam168b'
ID 524842
Institutional Source Beutler Lab
Gene Symbol Fam168b
Ensembl Gene ENSMUSG00000037503
Gene Name family with sequence similarity 168, member B
Synonyms
MMRRC Submission 044749-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6627 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 34852307-34882094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34875822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 21 (G21V)
Ref Sequence ENSEMBL: ENSMUSP00000139456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047534] [ENSMUST00000167518] [ENSMUST00000170092] [ENSMUST00000185231] [ENSMUST00000185469] [ENSMUST00000191307]
AlphaFold Q80XQ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000047534
AA Change: G21V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042212
Gene: ENSMUSG00000037503
AA Change: G21V

DomainStartEndE-ValueType
Pfam:TCRP1 1 194 1e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140534
Predicted Effect probably damaging
Transcript: ENSMUST00000167518
AA Change: G21V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131720
Gene: ENSMUSG00000037503
AA Change: G21V

DomainStartEndE-ValueType
Pfam:TCRP1 1 62 3.3e-26 PFAM
Pfam:TCRP1 54 206 1.1e-89 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170092
AA Change: G21V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128676
Gene: ENSMUSG00000037503
AA Change: G21V

DomainStartEndE-ValueType
Pfam:TCRP1 1 201 8.8e-108 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000185231
AA Change: G21V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139456
Gene: ENSMUSG00000037503
AA Change: G21V

DomainStartEndE-ValueType
Pfam:TCRP1 1 90 7.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185279
Predicted Effect probably damaging
Transcript: ENSMUST00000185469
AA Change: G21V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141150
Gene: ENSMUSG00000037503
AA Change: G21V

DomainStartEndE-ValueType
Pfam:TCRP1 1 66 3.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191307
AA Change: G21V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140573
Gene: ENSMUSG00000037503
AA Change: G21V

DomainStartEndE-ValueType
Pfam:TCRP1 1 206 2.8e-108 PFAM
Meta Mutation Damage Score 0.3811 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd29 T C 18: 12,395,221 (GRCm39) N224S probably benign Het
Ccdc162 A G 10: 41,539,181 (GRCm39) S396P probably damaging Het
Cd9 A G 6: 125,439,375 (GRCm39) L119P possibly damaging Het
Cdk17 A C 10: 93,068,274 (GRCm39) T311P probably damaging Het
Cep89 A G 7: 35,127,172 (GRCm39) D511G possibly damaging Het
Coq3 T C 4: 21,908,607 (GRCm39) V286A possibly damaging Het
Cyp2j13 G A 4: 95,947,343 (GRCm39) T236I probably damaging Het
Ddx46 T C 13: 55,800,748 (GRCm39) V301A probably benign Het
Dnah10 A T 5: 124,907,097 (GRCm39) I4209F probably damaging Het
E2f5 G A 3: 14,668,917 (GRCm39) E270K probably benign Het
Elp1 A T 4: 56,784,647 (GRCm39) probably null Het
Esp24 C T 17: 39,350,952 (GRCm39) Q51* probably null Het
Fasn G T 11: 120,709,753 (GRCm39) Q435K probably benign Het
Gpr17 T C 18: 32,080,949 (GRCm39) Y38C probably damaging Het
Lfng T C 5: 140,593,523 (GRCm39) V118A probably damaging Het
Maco1 A G 4: 134,563,654 (GRCm39) V110A probably damaging Het
Muc5ac T C 7: 141,362,427 (GRCm39) probably benign Het
Myh1 T G 11: 67,105,835 (GRCm39) L1150R probably damaging Het
Plod3 T G 5: 137,017,310 (GRCm39) I111S probably damaging Het
Sh2d4a T A 8: 68,746,970 (GRCm39) V66D probably damaging Het
Simc1 T G 13: 54,694,887 (GRCm39) L323V probably damaging Het
Thnsl2 A G 6: 71,111,199 (GRCm39) I223T possibly damaging Het
Tmem203 T C 2: 25,145,785 (GRCm39) probably null Het
Tmppe A G 9: 114,234,553 (GRCm39) D284G probably damaging Het
Ube2s C T 7: 4,813,581 (GRCm39) R61H possibly damaging Het
Other mutations in Fam168b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Fam168b APN 1 34,875,883 (GRCm39) start codon destroyed probably null 0.58
R0207:Fam168b UTSW 1 34,858,769 (GRCm39) missense probably damaging 0.98
R2008:Fam168b UTSW 1 34,858,946 (GRCm39) critical splice donor site probably null
R4020:Fam168b UTSW 1 34,867,860 (GRCm39) missense possibly damaging 0.71
R4617:Fam168b UTSW 1 34,859,063 (GRCm39) missense possibly damaging 0.90
R5154:Fam168b UTSW 1 34,857,180 (GRCm39) missense possibly damaging 0.83
R6167:Fam168b UTSW 1 34,858,684 (GRCm39) missense probably damaging 1.00
R6600:Fam168b UTSW 1 34,875,822 (GRCm39) missense probably damaging 1.00
R6602:Fam168b UTSW 1 34,875,822 (GRCm39) missense probably damaging 1.00
R6603:Fam168b UTSW 1 34,875,822 (GRCm39) missense probably damaging 1.00
R6628:Fam168b UTSW 1 34,875,822 (GRCm39) missense probably damaging 1.00
R6644:Fam168b UTSW 1 34,875,822 (GRCm39) missense probably damaging 1.00
R6692:Fam168b UTSW 1 34,875,822 (GRCm39) missense probably damaging 1.00
R6705:Fam168b UTSW 1 34,867,864 (GRCm39) missense probably damaging 0.98
R6985:Fam168b UTSW 1 34,858,789 (GRCm39) missense probably damaging 1.00
R7387:Fam168b UTSW 1 34,858,789 (GRCm39) missense probably damaging 1.00
R8992:Fam168b UTSW 1 34,858,862 (GRCm39) missense probably benign 0.00
Z1177:Fam168b UTSW 1 34,858,963 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAGTTTGCCCACTGTCTTAAG -3'
(R):5'- GGAGCAGCAGAAAATACTTTGC -3'

Sequencing Primer
(F):5'- GGTAAAACACTGTTGCCTGC -3'
(R):5'- GCAGCAGAAAATACTTTGCTTTATAG -3'
Posted On 2018-06-22