Incidental Mutation 'IGL02537:Tmem68'
ID297538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem68
Ensembl Gene ENSMUSG00000028232
Gene Nametransmembrane protein 68
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.283) question?
Stock #IGL02537
Quality Score
Status
Chromosome4
Chromosomal Location3549041-3574853 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3569649 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 14 (S14P)
Ref Sequence ENSEMBL: ENSMUSP00000121921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029891] [ENSMUST00000134451] [ENSMUST00000154922]
Predicted Effect probably benign
Transcript: ENSMUST00000029891
AA Change: S14P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029891
Gene: ENSMUSG00000028232
AA Change: S14P

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
PlsC 123 238 3.98e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000134451
AA Change: S14P

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: S14P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123591
Gene: ENSMUSG00000028232
AA Change: S14P

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
Blast:PlsC 75 112 4e-15 BLAST
Blast:PlsC 123 163 1e-21 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Alx3 T A 3: 107,604,859 M271K possibly damaging Het
Ank2 T C 3: 126,955,916 E488G probably damaging Het
Arsk T A 13: 76,074,906 R191* probably null Het
B230217C12Rik T C 11: 97,842,185 S111P possibly damaging Het
Bckdhb A G 9: 83,989,141 I158V probably benign Het
Bub1 G A 2: 127,801,347 Q1026* probably null Het
C8a A G 4: 104,845,951 M303T probably damaging Het
Cftr A G 6: 18,274,597 T905A probably benign Het
Col14a1 A T 15: 55,344,914 K132* probably null Het
Depdc5 T A 5: 32,967,787 L531Q probably damaging Het
Dzip1 G A 14: 118,909,576 probably benign Het
F5 C A 1: 164,193,117 L1054I probably benign Het
Gm4353 A T 7: 116,083,752 I198N probably damaging Het
Il1a T A 2: 129,309,076 E9V probably damaging Het
Kif15 A G 9: 122,993,849 T432A probably benign Het
Kndc1 T C 7: 139,910,410 V276A probably benign Het
Mrvi1 A T 7: 110,871,473 Y678* probably null Het
Narfl C T 17: 25,778,942 probably benign Het
Olfr1247 A C 2: 89,609,395 S236A possibly damaging Het
Olfr170 A T 16: 19,605,799 Y290N probably damaging Het
Olfr430 A T 1: 174,069,454 D52V possibly damaging Het
Palld T C 8: 61,684,934 S596G probably benign Het
Pdc A T 1: 150,333,009 D81V possibly damaging Het
Plcd4 A G 1: 74,556,050 K361R possibly damaging Het
Plekhm1 T A 11: 103,397,192 D43V probably damaging Het
Prpf31 G T 7: 3,638,751 G356C probably damaging Het
Rbpj T A 5: 53,642,143 I100K probably damaging Het
Rufy3 A G 5: 88,640,662 probably benign Het
Slc40a1 C T 1: 45,911,393 V300I probably benign Het
Slc6a12 A T 6: 121,360,514 I386F probably benign Het
Strip1 C T 3: 107,616,894 R569H possibly damaging Het
Tep1 A T 14: 50,836,113 D1996E probably damaging Het
Trav12-1 C A 14: 53,538,523 C44* probably null Het
Uba1 G A X: 20,678,663 R693H possibly damaging Het
Ugt2b38 T C 5: 87,421,731 T246A possibly damaging Het
Usp24 A G 4: 106,392,367 Y1427C probably damaging Het
Vmn2r78 A T 7: 86,954,288 Y558F probably damaging Het
Wdr54 A G 6: 83,153,391 W221R possibly damaging Het
Xpo4 T C 14: 57,593,833 T773A probably benign Het
Zfp518a T A 19: 40,915,430 S1268T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Znfx1 T C 2: 167,056,167 D279G probably benign Het
Other mutations in Tmem68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Tmem68 APN 4 3560536 missense probably damaging 1.00
IGL02433:Tmem68 APN 4 3569624 missense possibly damaging 0.79
IGL02886:Tmem68 APN 4 3569361 splice site probably benign
R0600:Tmem68 UTSW 4 3569667 missense probably damaging 0.99
R1670:Tmem68 UTSW 4 3560627 missense probably damaging 0.99
R3001:Tmem68 UTSW 4 3569588 missense probably damaging 1.00
R3002:Tmem68 UTSW 4 3569588 missense probably damaging 1.00
R3086:Tmem68 UTSW 4 3569594 missense possibly damaging 0.95
R4428:Tmem68 UTSW 4 3569534 missense probably benign 0.33
R5221:Tmem68 UTSW 4 3560561 missense possibly damaging 0.83
R5640:Tmem68 UTSW 4 3569512 missense probably benign
R6919:Tmem68 UTSW 4 3569669 missense possibly damaging 0.68
R7122:Tmem68 UTSW 4 3564107 missense probably benign 0.36
R7857:Tmem68 UTSW 4 3551825 missense probably damaging 1.00
Posted On2015-04-16