Incidental Mutation 'R6705:Fam168b'
ID 528882
Institutional Source Beutler Lab
Gene Symbol Fam168b
Ensembl Gene ENSMUSG00000037503
Gene Name family with sequence similarity 168, member B
Synonyms
MMRRC Submission 044823-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6705 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 34852307-34882094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34867864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 45 (N45K)
Ref Sequence ENSEMBL: ENSMUSP00000139456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047534] [ENSMUST00000167518] [ENSMUST00000170092] [ENSMUST00000185231] [ENSMUST00000185469] [ENSMUST00000191307]
AlphaFold Q80XQ8
Predicted Effect probably benign
Transcript: ENSMUST00000047534
AA Change: N45K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000042212
Gene: ENSMUSG00000037503
AA Change: N45K

DomainStartEndE-ValueType
Pfam:TCRP1 1 194 1e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140534
Predicted Effect possibly damaging
Transcript: ENSMUST00000167518
AA Change: N45K

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131720
Gene: ENSMUSG00000037503
AA Change: N45K

DomainStartEndE-ValueType
Pfam:TCRP1 1 62 3.3e-26 PFAM
Pfam:TCRP1 54 206 1.1e-89 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170092
AA Change: N45K

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128676
Gene: ENSMUSG00000037503
AA Change: N45K

DomainStartEndE-ValueType
Pfam:TCRP1 1 201 8.8e-108 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000185231
AA Change: N45K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139456
Gene: ENSMUSG00000037503
AA Change: N45K

DomainStartEndE-ValueType
Pfam:TCRP1 1 90 7.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185279
Predicted Effect possibly damaging
Transcript: ENSMUST00000185469
AA Change: N45K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141150
Gene: ENSMUSG00000037503
AA Change: N45K

DomainStartEndE-ValueType
Pfam:TCRP1 1 66 3.6e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000191307
AA Change: N45K

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140573
Gene: ENSMUSG00000037503
AA Change: N45K

DomainStartEndE-ValueType
Pfam:TCRP1 1 206 2.8e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192924
Meta Mutation Damage Score 0.0756 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,204,253 (GRCm39) T46I probably benign Het
Afdn G A 17: 14,108,283 (GRCm39) V1269I probably benign Het
Aldh5a1 A T 13: 25,096,253 (GRCm39) N448K probably damaging Het
Cant1 G T 11: 118,298,698 (GRCm39) T355K probably damaging Het
Ccn2 T A 10: 24,471,853 (GRCm39) L25Q probably damaging Het
Comp C A 8: 70,829,387 (GRCm39) N321K probably damaging Het
D1Pas1 G T 1: 186,700,576 (GRCm39) E168D probably benign Het
Ddx23 G A 15: 98,550,849 (GRCm39) R111* probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin2 T A 8: 27,526,468 (GRCm39) L276Q probably damaging Het
Etaa1 T C 11: 17,895,639 (GRCm39) N826S probably benign Het
Gas2l2 G A 11: 83,313,462 (GRCm39) R617* probably null Het
Gtf3c2 C A 5: 31,323,352 (GRCm39) C533F possibly damaging Het
Hdac5 T C 11: 102,092,062 (GRCm39) T676A probably damaging Het
Helb A G 10: 119,925,716 (GRCm39) probably null Het
Igkv3-7 A T 6: 70,585,004 (GRCm39) S95C probably benign Het
Kdm3b A G 18: 34,952,926 (GRCm39) I899V probably damaging Het
Lgr5 G A 10: 115,423,193 (GRCm39) S69F probably damaging Het
Lrrc55 A T 2: 85,026,699 (GRCm39) D108E probably benign Het
Mphosph9 T C 5: 124,429,027 (GRCm39) N667S possibly damaging Het
Myf6 C T 10: 107,329,690 (GRCm39) V198M possibly damaging Het
Nav2 T C 7: 49,201,664 (GRCm39) S1413P probably damaging Het
Nfe2l1 A C 11: 96,718,451 (GRCm39) V28G probably damaging Het
Nup210 G T 6: 91,064,942 (GRCm39) T186K possibly damaging Het
Or13a18 T A 7: 140,190,697 (GRCm39) M206K probably damaging Het
Or6c1b G A 10: 129,272,941 (GRCm39) D87N probably benign Het
Or8b12 T A 9: 37,658,030 (GRCm39) I200N possibly damaging Het
Or8b4 T A 9: 37,830,080 (GRCm39) N42K probably damaging Het
Ppfia1 G A 7: 144,072,911 (GRCm39) T301M possibly damaging Het
Ppp1r14c A T 10: 3,316,890 (GRCm39) Y75F probably damaging Het
Ppp1r3g C A 13: 36,152,880 (GRCm39) A100E probably benign Het
Rictor A G 15: 6,823,493 (GRCm39) T1557A probably benign Het
Shc1 C T 3: 89,330,266 (GRCm39) R67* probably null Het
Skint10 A T 4: 112,630,301 (GRCm39) probably benign Het
Slk A G 19: 47,597,498 (GRCm39) N102S probably benign Het
Tbc1d5 T C 17: 51,332,203 (GRCm39) probably benign Het
Tiam2 G A 17: 3,568,518 (GRCm39) V1555I probably benign Het
Vmn1r174 C A 7: 23,453,851 (GRCm39) S172R probably benign Het
Vps39 A T 2: 120,151,157 (GRCm39) N823K probably benign Het
Wdr27 A T 17: 15,154,852 (GRCm39) Y22N probably damaging Het
Xrn2 A G 2: 146,878,582 (GRCm39) probably null Het
Zbp1 A T 2: 173,055,680 (GRCm39) C161* probably null Het
Zfp236 T A 18: 82,651,862 (GRCm39) E821V probably 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
R6627: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
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'- TTACCTGTACAGCCCAGAGG -3'
(R):5'- GAGAAGCTGACTAGAGATGATTTTG -3'

Sequencing Primer
(F):5'- TGGCGGGCAGATCTGAG -3'
(R):5'- ACTAGAGATGATTTTGTTTTGAGCAG -3'
Posted On 2018-07-24