Incidental Mutation 'R0117:Tvp23b'
ID 60557
Institutional Source Beutler Lab
Gene Symbol Tvp23b
Ensembl Gene ENSMUSG00000014177
Gene Name trans-golgi network vesicle protein 23B
Synonyms Fam18b, 1810036I24Rik
MMRRC Submission 038403-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0117 (G1)
Quality Score 158
Status Validated
Chromosome 11
Chromosomal Location 62770281-62786012 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 62770430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014321] [ENSMUST00000036085] [ENSMUST00000150989] [ENSMUST00000177336] [ENSMUST00000176577]
AlphaFold Q9D8T4
Predicted Effect probably benign
Transcript: ENSMUST00000014321
SMART Domains Protein: ENSMUSP00000014321
Gene: ENSMUSG00000014177

DomainStartEndE-ValueType
Pfam:DUF846 32 174 9.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036085
SMART Domains Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173

DomainStartEndE-ValueType
low complexity region 262 274 N/A INTRINSIC
Blast:FBOX 286 326 6e-14 BLAST
Blast:WD40 416 453 2e-8 BLAST
WD40 457 496 1.78e-5 SMART
WD40 499 536 5.55e-7 SMART
WD40 539 575 2.84e-4 SMART
WD40 578 615 3.81e-5 SMART
WD40 620 656 6.9e-1 SMART
low complexity region 709 724 N/A INTRINSIC
coiled coil region 964 992 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140377
Predicted Effect probably benign
Transcript: ENSMUST00000150989
SMART Domains Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173

DomainStartEndE-ValueType
low complexity region 262 274 N/A INTRINSIC
Blast:FBOX 286 326 1e-13 BLAST
Blast:WD40 406 443 2e-8 BLAST
WD40 447 486 1.78e-5 SMART
WD40 489 526 5.55e-7 SMART
WD40 529 565 2.84e-4 SMART
WD40 568 605 3.81e-5 SMART
WD40 610 646 6.9e-1 SMART
low complexity region 699 714 N/A INTRINSIC
coiled coil region 954 982 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154176
Predicted Effect probably benign
Transcript: ENSMUST00000177336
SMART Domains Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173

DomainStartEndE-ValueType
low complexity region 262 274 N/A INTRINSIC
Blast:FBOX 286 326 5e-14 BLAST
Blast:WD40 406 443 1e-8 BLAST
WD40 447 486 1.78e-5 SMART
WD40 489 526 5.55e-7 SMART
WD40 529 565 2.84e-4 SMART
WD40 568 605 3.81e-5 SMART
WD40 610 646 6.9e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176577
SMART Domains Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173

DomainStartEndE-ValueType
low complexity region 262 274 N/A INTRINSIC
Blast:FBOX 286 326 6e-14 BLAST
Blast:WD40 406 443 2e-8 BLAST
WD40 447 486 1.78e-5 SMART
WD40 489 526 5.55e-7 SMART
WD40 529 565 2.84e-4 SMART
WD40 568 605 3.81e-5 SMART
WD40 610 646 6.9e-1 SMART
low complexity region 704 719 N/A INTRINSIC
coiled coil region 959 987 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.1%
Validation Efficiency 95% (59/62)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 A T 17: 33,999,776 (GRCm39) I141K probably damaging Het
Bbs10 T A 10: 111,135,194 (GRCm39) D102E possibly damaging Het
Btaf1 A G 19: 36,947,368 (GRCm39) T486A probably benign Het
Casp8ap2 A G 4: 32,640,817 (GRCm39) T624A probably benign Het
Cep192 T C 18: 67,983,808 (GRCm39) probably null Het
Cep76 T C 18: 67,759,744 (GRCm39) Y323C possibly damaging Het
CK137956 T A 4: 127,840,585 (GRCm39) T374S possibly damaging Het
Cyp2b23 A T 7: 26,372,539 (GRCm39) F359I probably benign Het
Cyp4f13 G T 17: 33,149,580 (GRCm39) H194Q probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dscam T C 16: 96,474,878 (GRCm39) H1228R probably benign Het
Eps15 T A 4: 109,240,016 (GRCm39) D667E probably damaging Het
Fig4 G A 10: 41,106,037 (GRCm39) R716* probably null Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Gmpr T A 13: 45,670,560 (GRCm39) probably null Het
Gsta5 C T 9: 78,211,700 (GRCm39) T154I probably damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc2 C A 7: 55,863,359 (GRCm39) probably benign Het
Htr2a G A 14: 74,882,533 (GRCm39) R173H probably damaging Het
Impg2 A G 16: 56,082,005 (GRCm39) N979S probably damaging Het
Kcna2 A G 3: 107,012,670 (GRCm39) Y417C probably damaging Het
Lmf1 G T 17: 25,874,965 (GRCm39) probably benign Het
Lmntd2 G A 7: 140,790,036 (GRCm39) R659C possibly damaging Het
Mcm9 A G 10: 53,413,832 (GRCm39) V416A possibly damaging Het
Mgarp G T 3: 51,304,133 (GRCm39) probably benign Het
Mpp3 G A 11: 101,891,399 (GRCm39) P580S probably damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Ninl G A 2: 150,779,593 (GRCm39) R269W probably damaging Het
Or7e170 T C 9: 19,795,595 (GRCm39) E2G probably damaging Het
Or8g19 T A 9: 39,056,146 (GRCm39) I250N probably damaging Het
Or8h8 T A 2: 86,753,214 (GRCm39) I221F probably damaging Het
Pcnt A T 10: 76,244,561 (GRCm39) L1173* probably null Het
Pde6c A G 19: 38,139,979 (GRCm39) E314G probably damaging Het
Peds1 A G 2: 167,486,678 (GRCm39) probably benign Het
Phldb1 T C 9: 44,623,003 (GRCm39) M1V probably null Het
Pkdrej T A 15: 85,700,300 (GRCm39) probably null Het
Plch2 T A 4: 155,069,815 (GRCm39) probably benign Het
Pld2 G A 11: 70,448,214 (GRCm39) R887Q probably benign Het
Plxnb1 A G 9: 108,934,286 (GRCm39) D838G possibly damaging Het
Postn C T 3: 54,290,902 (GRCm39) probably benign Het
Prl8a8 T A 13: 27,692,473 (GRCm39) I172F probably damaging Het
Psmc4 A T 7: 27,742,165 (GRCm39) probably benign Het
Rabgap1 T A 2: 37,451,897 (GRCm39) probably null Het
Rapgef2 A G 3: 78,986,484 (GRCm39) S1017P probably benign Het
Rbak G T 5: 143,159,387 (GRCm39) Y555* probably null Het
Serpina1c T G 12: 103,861,271 (GRCm39) *414C probably null Het
Sntb1 A G 15: 55,769,749 (GRCm39) V80A probably benign Het
Sorl1 A G 9: 41,944,873 (GRCm39) V884A probably benign Het
Stmnd1 C A 13: 46,438,962 (GRCm39) Q65K possibly damaging Het
Tgm5 C T 2: 120,905,583 (GRCm39) probably null Het
Tubb1 T C 2: 174,299,577 (GRCm39) S420P probably benign Het
Xirp2 C T 2: 67,347,464 (GRCm39) A3235V possibly damaging Het
Zc3h15 T C 2: 83,488,427 (GRCm39) S122P possibly damaging Het
Other mutations in Tvp23b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Tvp23b APN 11 62,774,464 (GRCm39) missense probably damaging 0.97
IGL00901:Tvp23b APN 11 62,774,606 (GRCm39) splice site probably benign
IGL02004:Tvp23b APN 11 62,782,826 (GRCm39) missense probably damaging 1.00
Chipotle UTSW 11 62,770,424 (GRCm39) splice site probably null
R3838:Tvp23b UTSW 11 62,774,455 (GRCm39) missense possibly damaging 0.84
R4596:Tvp23b UTSW 11 62,774,544 (GRCm39) missense probably benign
R4840:Tvp23b UTSW 11 62,770,424 (GRCm39) splice site probably null
R6952:Tvp23b UTSW 11 62,775,952 (GRCm39) missense possibly damaging 0.50
R7499:Tvp23b UTSW 11 62,770,289 (GRCm39) unclassified probably benign
R7516:Tvp23b UTSW 11 62,782,867 (GRCm39) missense possibly damaging 0.77
R8511:Tvp23b UTSW 11 62,774,563 (GRCm39) missense possibly damaging 0.90
R9206:Tvp23b UTSW 11 62,772,842 (GRCm39) missense possibly damaging 0.49
Z1186:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1187:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1188:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1189:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1190:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1191:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1192:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TTCCTTAGAAGTGCAGCCCTTGCC -3'
(R):5'- AACCCTCTAGCGACAATTTGCCCG -3'

Sequencing Primer
(F):5'- TACAGAGTCTCTGCGTCAAG -3'
(R):5'- AGTTCCTACAGCTCAGGCAGT -3'
Posted On 2013-07-24