Incidental Mutation 'R3086:Tmem68'
ID 265627
Institutional Source Beutler Lab
Gene Symbol Tmem68
Ensembl Gene ENSMUSG00000028232
Gene Name transmembrane protein 68
Synonyms Diesl, 2010300G19Rik
MMRRC Submission 040575-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R3086 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 3549041-3574853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3569594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000121921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029891] [ENSMUST00000134451] [ENSMUST00000154922]
AlphaFold Q9D850
Predicted Effect probably benign
Transcript: ENSMUST00000029891
AA Change: E32G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029891
Gene: ENSMUSG00000028232
AA Change: E32G

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
PlsC 123 238 3.98e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000134451
AA Change: E32G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150676
Predicted Effect probably benign
Transcript: ENSMUST00000154922
AA Change: E32G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123591
Gene: ENSMUSG00000028232
AA Change: E32G

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 0.0628 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 47,083,881 (GRCm39) L48P probably damaging Het
Adgra3 A T 5: 50,170,733 (GRCm39) probably null Het
Alms1 A G 6: 85,655,122 (GRCm39) R3223G probably benign Het
Bltp1 A G 3: 37,065,852 (GRCm39) D3483G possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Ces2b A T 8: 105,559,401 (GRCm39) D89V possibly damaging Het
Dhrs2 G T 14: 55,477,301 (GRCm39) V179L probably benign Het
Dlg5 T C 14: 24,216,258 (GRCm39) T595A probably damaging Het
Dock10 T C 1: 80,510,074 (GRCm39) N1585D possibly damaging Het
Dock4 T C 12: 40,781,862 (GRCm39) I689T probably benign Het
Fgfr4 G T 13: 55,315,205 (GRCm39) probably benign Het
Frk G A 10: 34,483,950 (GRCm39) G437D probably damaging Het
Frzb T G 2: 80,248,858 (GRCm39) I199L possibly damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Helq A G 5: 100,921,858 (GRCm39) L782S probably benign Het
Kif20b T C 19: 34,907,115 (GRCm39) F128S probably damaging Het
Kifc2 T C 15: 76,551,452 (GRCm39) F725L probably benign Het
Lekr1 A G 3: 65,634,581 (GRCm39) noncoding transcript Het
Macf1 T A 4: 123,328,901 (GRCm39) M2490L probably benign Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
N4bp2 A G 5: 65,948,396 (GRCm39) Y342C probably damaging Het
Nf1 T C 11: 79,437,812 (GRCm39) C2057R probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or6c88 G A 10: 129,407,276 (GRCm39) G251S probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdha1 G C 18: 37,064,001 (GRCm39) E222Q possibly damaging Het
Prune2 A T 19: 17,098,777 (GRCm39) D1427V possibly damaging Het
Rnps1 C T 17: 24,631,393 (GRCm39) probably benign Het
Rsph4a G C 10: 33,785,198 (GRCm39) V370L probably damaging Het
Sema5b T A 16: 35,443,093 (GRCm39) S33T probably benign Het
Stk-ps2 A C 1: 46,068,236 (GRCm39) noncoding transcript Het
Tep1 A T 14: 51,064,511 (GRCm39) probably null Het
Tet1 T C 10: 62,715,400 (GRCm39) K132E probably benign Het
Tiam2 A G 17: 3,471,857 (GRCm39) K500E probably damaging Het
Tmem131l G T 3: 83,839,046 (GRCm39) R635S probably benign Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Zfp780b A G 7: 27,663,055 (GRCm39) I500T probably damaging Het
Zfyve26 G T 12: 79,312,457 (GRCm39) probably benign 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
R4428:Tmem68 UTSW 4 3,569,534 (GRCm39) missense probably benign 0.33
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'- ACAGAGTTGCCACCGTTTTC -3'
(R):5'- CCTCTTAATTCACAGCTTGCAAG -3'

Sequencing Primer
(F):5'- TTGCACCATCCCACAAGTTATGAG -3'
(R):5'- AGAGAATGACTGCATCTTTTTCCC -3'
Posted On 2015-02-05