Incidental Mutation 'R4428:Tmem68'
ID 328265
Institutional Source Beutler Lab
Gene Symbol Tmem68
Ensembl Gene ENSMUSG00000028232
Gene Name transmembrane protein 68
Synonyms Diesl, 2010300G19Rik
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 3549041-3574853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3569534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 52 (I52K)
Ref Sequence ENSEMBL: ENSMUSP00000123591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029891] [ENSMUST00000134451] [ENSMUST00000154922]
AlphaFold Q9D850
Predicted Effect probably benign
Transcript: ENSMUST00000029891
AA Change: I52K

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029891
Gene: ENSMUSG00000028232
AA Change: I52K

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
PlsC 123 238 3.98e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150676
Predicted Effect probably benign
Transcript: ENSMUST00000154922
AA Change: I52K

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123591
Gene: ENSMUSG00000028232
AA Change: I52K

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
Blast:PlsC 75 112 4e-15 BLAST
Blast:PlsC 123 163 1e-21 BLAST
Meta Mutation Damage Score 0.1689 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging Het
Other mutations in Tmem68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Tmem68 APN 4 3,560,536 (GRCm39) missense probably damaging 1.00
IGL02433:Tmem68 APN 4 3,569,624 (GRCm39) missense possibly damaging 0.79
IGL02537:Tmem68 APN 4 3,569,649 (GRCm39) missense possibly damaging 0.95
IGL02886:Tmem68 APN 4 3,569,361 (GRCm39) splice site probably benign
R0600:Tmem68 UTSW 4 3,569,667 (GRCm39) missense probably damaging 0.99
R1670:Tmem68 UTSW 4 3,560,627 (GRCm39) missense probably damaging 0.99
R3001:Tmem68 UTSW 4 3,569,588 (GRCm39) missense probably damaging 1.00
R3002:Tmem68 UTSW 4 3,569,588 (GRCm39) missense probably damaging 1.00
R3086:Tmem68 UTSW 4 3,569,594 (GRCm39) missense possibly damaging 0.95
R5221:Tmem68 UTSW 4 3,560,561 (GRCm39) missense possibly damaging 0.83
R5640:Tmem68 UTSW 4 3,569,512 (GRCm39) missense probably benign
R6919:Tmem68 UTSW 4 3,569,669 (GRCm39) missense possibly damaging 0.68
R7122:Tmem68 UTSW 4 3,564,107 (GRCm39) missense probably benign 0.36
R7857:Tmem68 UTSW 4 3,551,825 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAATGTCAGTGCAACATGCC -3'
(R):5'- GAGACAGGATTTGGGATTTTCATC -3'

Sequencing Primer
(F):5'- TGCAACATGCCAGGCCATG -3'
(R):5'- AGGATTTGGGATTTTCATCTAAGAAC -3'
Posted On 2015-07-07