Incidental Mutation 'R6985:Fam168b'
ID 542881
Institutional Source Beutler Lab
Gene Symbol Fam168b
Ensembl Gene ENSMUSG00000037503
Gene Name family with sequence similarity 168, member B
Synonyms
MMRRC Submission 045092-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6985 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 34852307-34882094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34858789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 131 (T131M)
Ref Sequence ENSEMBL: ENSMUSP00000140573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047534] [ENSMUST00000167518] [ENSMUST00000170092] [ENSMUST00000185231] [ENSMUST00000185469] [ENSMUST00000191307]
AlphaFold Q80XQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000047534
AA Change: T119M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042212
Gene: ENSMUSG00000037503
AA Change: T119M

DomainStartEndE-ValueType
Pfam:TCRP1 1 194 1e-108 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167518
AA Change: T131M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131720
Gene: ENSMUSG00000037503
AA Change: T131M

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: T126M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128676
Gene: ENSMUSG00000037503
AA Change: T126M

DomainStartEndE-ValueType
Pfam:TCRP1 1 201 8.8e-108 PFAM
Predicted Effect silent
Transcript: ENSMUST00000185231
SMART Domains Protein: ENSMUSP00000139456
Gene: ENSMUSG00000037503

DomainStartEndE-ValueType
Pfam:TCRP1 1 90 7.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185469
SMART Domains Protein: ENSMUSP00000141150
Gene: ENSMUSG00000037503

DomainStartEndE-ValueType
Pfam:TCRP1 1 66 3.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191307
AA Change: T131M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140573
Gene: ENSMUSG00000037503
AA Change: T131M

DomainStartEndE-ValueType
Pfam:TCRP1 1 206 2.8e-108 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akirin1 A G 4: 123,630,649 (GRCm39) *192R probably null Het
Ankar A C 1: 72,697,641 (GRCm39) L836R probably damaging Het
Anxa7 G T 14: 20,521,636 (GRCm39) A20E unknown Het
Arhgap1 T A 2: 91,498,543 (GRCm39) Y147N probably damaging Het
Arid2 T C 15: 96,268,029 (GRCm39) V714A probably benign Het
Arrdc3 T C 13: 81,031,776 (GRCm39) L3P probably damaging Het
Bhmt2 T C 13: 93,799,830 (GRCm39) D202G possibly damaging Het
Bub1b A G 2: 118,437,095 (GRCm39) R98G probably damaging Het
Capn10 T C 1: 92,871,146 (GRCm39) Y319H probably damaging Het
Cep95 T C 11: 106,709,529 (GRCm39) F115S probably damaging Het
Chsy3 A T 18: 59,309,560 (GRCm39) probably null Het
Cnot1 T C 8: 96,460,757 (GRCm39) N1755S probably benign Het
Cntn4 A G 6: 106,656,378 (GRCm39) N893S probably benign Het
Ctsh G A 9: 89,936,657 (GRCm39) A19T possibly damaging Het
Cttn C A 7: 144,006,324 (GRCm39) E214* probably null Het
Des A G 1: 75,343,431 (GRCm39) E438G possibly damaging Het
Dnaja4 T C 9: 54,615,679 (GRCm39) V109A probably benign Het
Dock1 A G 7: 134,765,132 (GRCm39) E1708G possibly damaging Het
Dst T C 1: 34,229,934 (GRCm39) I2184T probably benign Het
Enc1 C T 13: 97,381,628 (GRCm39) T46I possibly damaging Het
Etaa1 A G 11: 17,896,108 (GRCm39) S670P probably damaging Het
Fbn2 A T 18: 58,201,460 (GRCm39) V1319E probably damaging Het
Fcrl1 T A 3: 87,296,957 (GRCm39) V302E probably benign Het
Fgfr3 G C 5: 33,892,785 (GRCm39) E744Q probably null Het
Gmps T A 3: 63,922,960 (GRCm39) I641N probably damaging Het
Gpc2 T A 5: 138,276,670 (GRCm39) Y152F probably damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Herc2 A G 7: 55,782,228 (GRCm39) D1305G probably damaging Het
Ighv1-37 T C 12: 114,860,252 (GRCm39) T14A probably benign Het
Insr T A 8: 3,211,372 (GRCm39) M1156L possibly damaging Het
Kirrel2 C A 7: 30,154,731 (GRCm39) G127C probably damaging Het
Krt10 T C 11: 99,276,456 (GRCm39) N65S possibly damaging Het
Lrig3 A G 10: 125,850,738 (GRCm39) I1101M possibly damaging Het
Lrrc55 T G 2: 85,022,274 (GRCm39) N306H probably benign Het
Map4k3 A G 17: 80,944,161 (GRCm39) S329P probably damaging Het
Mapkap1 T G 2: 34,322,122 (GRCm39) H13Q probably damaging Het
Mki67 A G 7: 135,315,594 (GRCm39) L60S probably damaging Het
Muc4 A T 16: 32,570,817 (GRCm39) M626L probably benign Het
Mycbp2 C T 14: 103,444,117 (GRCm39) V1914I possibly damaging Het
Myo5b T C 18: 74,786,432 (GRCm39) F442L possibly damaging Het
Naa35 T A 13: 59,775,757 (GRCm39) M545K probably benign Het
Nrxn2 T A 19: 6,531,275 (GRCm39) V645E probably damaging Het
Or52z14 A G 7: 103,252,875 (GRCm39) T5A probably benign Het
Or5af2 T C 11: 58,707,939 (GRCm39) F35S probably damaging Het
Otx1 A T 11: 21,946,615 (GRCm39) Y231* probably null Het
Pcdhb19 A G 18: 37,630,211 (GRCm39) E2G probably benign Het
Pik3c2a G A 7: 116,017,223 (GRCm39) T178I probably damaging Het
Plxna4 A G 6: 32,214,643 (GRCm39) S613P probably damaging Het
Pon1 T G 6: 5,168,345 (GRCm39) D354A probably benign Het
Prtg T G 9: 72,758,783 (GRCm39) I379S probably damaging Het
Rbm17 T G 2: 11,595,504 (GRCm39) M234L probably benign Het
Rex1bd T C 8: 70,958,555 (GRCm39) S71G probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Shank1 A G 7: 43,994,337 (GRCm39) I833V unknown Het
Slc35f1 C A 10: 52,898,007 (GRCm39) D139E probably benign Het
Spata31d1a T C 13: 59,850,907 (GRCm39) N407S probably benign Het
Spata31d1d T A 13: 59,879,429 (GRCm39) I36F probably benign Het
Sstr4 T A 2: 148,238,169 (GRCm39) M260K probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trat1 A G 16: 48,574,634 (GRCm39) Y55H probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Vcan T C 13: 89,828,075 (GRCm39) T3124A probably damaging Het
Wdfy4 A T 14: 32,821,074 (GRCm39) F1385Y possibly damaging Het
Xrcc3 T C 12: 111,778,530 (GRCm39) D7G 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
R6705:Fam168b UTSW 1 34,867,864 (GRCm39) missense probably damaging 0.98
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'- CATGGGTCAGAAGCTTCATGG -3'
(R):5'- TACCCAGTGAGAAGTGCCTACC -3'

Sequencing Primer
(F):5'- GGTCAGAAGCTTCATGGACTCTC -3'
(R):5'- TGAGAAGTGCCTACCCCCAG -3'
Posted On 2018-11-28