Incidental Mutation 'IGL01583:Tmem82'
ID91400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem82
Ensembl Gene ENSMUSG00000043085
Gene Nametransmembrane protein 82
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL01583
Quality Score
Status
Chromosome4
Chromosomal Location141613376-141618633 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 141614643 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 337 (T337P)
Ref Sequence ENSEMBL: ENSMUSP00000058412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038661] [ENSMUST00000053263] [ENSMUST00000143154]
Predicted Effect probably benign
Transcript: ENSMUST00000038661
SMART Domains Protein: ENSMUSP00000039188
Gene: ENSMUSG00000040740

DomainStartEndE-ValueType
Pfam:Mito_carr 16 111 2.2e-14 PFAM
Pfam:Mito_carr 113 213 7.6e-18 PFAM
Pfam:Mito_carr 217 314 9.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053263
AA Change: T337P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058412
Gene: ENSMUSG00000043085
AA Change: T337P

DomainStartEndE-ValueType
Pfam:TMEM82 10 315 2.4e-137 PFAM
low complexity region 342 356 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140726
Predicted Effect probably benign
Transcript: ENSMUST00000143154
SMART Domains Protein: ENSMUSP00000120973
Gene: ENSMUSG00000043085

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
transmembrane domain 31 53 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
low complexity region 126 142 N/A INTRINSIC
transmembrane domain 144 166 N/A INTRINSIC
transmembrane domain 203 222 N/A INTRINSIC
transmembrane domain 232 249 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156246
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,296,409 M329K possibly damaging Het
Abce1 G A 8: 79,693,447 T300M probably damaging Het
Acap1 G A 11: 69,881,677 S536L probably damaging Het
Adcy5 C A 16: 35,283,513 probably benign Het
Ap2b1 G T 11: 83,324,611 R127L possibly damaging Het
Asxl3 T G 18: 22,516,597 S548A probably benign Het
Atm G A 9: 53,484,247 probably benign Het
Cep250 T C 2: 155,976,149 V807A probably damaging Het
Ces1g T A 8: 93,306,959 Y445F probably damaging Het
Cnksr3 A G 10: 7,120,512 Y241H probably benign Het
Col9a1 T C 1: 24,185,144 S136P unknown Het
Cux2 C A 5: 121,874,107 G422W probably damaging Het
Cyp1a2 A T 9: 57,682,372 M53K probably benign Het
Ddx20 T C 3: 105,686,670 D123G probably damaging Het
Dock4 T A 12: 40,810,467 L1284* probably null Het
Dpp9 A C 17: 56,211,666 L46R probably benign Het
Elavl1 A T 8: 4,301,699 V139E probably damaging Het
Fndc3b T C 3: 27,428,995 Y1018C probably damaging Het
Fubp1 A G 3: 152,215,624 N78D possibly damaging Het
Fubp3 C T 2: 31,611,743 probably benign Het
Gbx2 C A 1: 89,928,837 R277L probably damaging Het
Gm128 T C 3: 95,240,783 R67G possibly damaging Het
Gpc2 T A 5: 138,275,530 R469W probably damaging Het
Ifi30 G A 8: 70,764,762 probably benign Het
Kbtbd4 T C 2: 90,905,908 S88P probably damaging Het
Kif23 A T 9: 61,935,468 Y216N probably damaging Het
Lgals4 A G 7: 28,841,548 D299G probably damaging Het
Lmx1b A G 2: 33,569,059 S161P probably benign Het
Lrcol1 T A 5: 110,354,578 S107T probably benign Het
Lrrc28 A T 7: 67,545,475 probably null Het
Ncoa4 T C 14: 32,172,927 V42A probably benign Het
Nkd2 C T 13: 73,821,480 S277N probably benign Het
Nlrp2 A T 7: 5,337,770 L15Q probably damaging Het
Nynrin T G 14: 55,870,511 L1025R probably damaging Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1134 G T 2: 87,656,413 C169* probably null Het
Piwil4 A T 9: 14,734,487 F152I probably damaging Het
Plod3 T C 5: 136,996,148 S705P probably benign Het
Ppp2r2c T A 5: 36,868,822 M1K probably null Het
Rgs19 T C 2: 181,689,453 E129G probably damaging Het
Rpap2 T A 5: 107,620,195 S223T probably damaging Het
Shox2 T C 3: 66,973,771 probably benign Het
Slc30a4 T C 2: 122,685,217 I370V probably benign Het
Slco1b2 A G 6: 141,663,672 I269M possibly damaging Het
Slco1c1 A G 6: 141,540,067 Y142C probably damaging Het
Slco3a1 T C 7: 74,284,450 N658S probably benign Het
Sos1 A T 17: 80,433,900 S485R probably benign Het
Srpk1 A G 17: 28,606,317 L127P probably damaging Het
St3gal6 T A 16: 58,493,670 probably benign Het
Stk4 T A 2: 164,074,214 M1K probably null Het
Tbc1d12 A G 19: 38,882,732 E313G probably benign Het
Tbk1 A G 10: 121,557,229 I472T probably benign Het
Tiam1 G A 16: 89,789,280 R849W probably damaging Het
Tle3 A G 9: 61,410,025 T381A probably benign Het
Tmprss15 T C 16: 79,071,261 T220A probably benign Het
Ung A G 5: 114,137,308 K242E possibly damaging Het
Vmn1r211 A T 13: 22,852,401 M32K probably benign Het
Vps13d T G 4: 145,045,088 D956A probably damaging Het
Wdr64 T A 1: 175,767,156 probably null Het
Other mutations in Tmem82
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0456:Tmem82 UTSW 4 141617390 missense probably benign 0.00
R1473:Tmem82 UTSW 4 141616278 missense possibly damaging 0.95
R2094:Tmem82 UTSW 4 141616287 missense probably benign 0.00
R2902:Tmem82 UTSW 4 141616464 missense probably benign 0.17
R3715:Tmem82 UTSW 4 141617634 splice site probably null
R4728:Tmem82 UTSW 4 141614652 missense probably benign
R6332:Tmem82 UTSW 4 141616410 missense probably damaging 0.99
R7171:Tmem82 UTSW 4 141614973 missense possibly damaging 0.60
R7282:Tmem82 UTSW 4 141614950 missense possibly damaging 0.80
R7404:Tmem82 UTSW 4 141617431 missense possibly damaging 0.94
R7593:Tmem82 UTSW 4 141616294 missense probably damaging 0.99
R7790:Tmem82 UTSW 4 141617724 splice site probably null
Posted On2013-12-09