Incidental Mutation 'IGL02215:Tmem39b'
ID284860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem39b
Ensembl Gene ENSMUSG00000053730
Gene Nametransmembrane protein 39b
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.296) question?
Stock #IGL02215
Quality Score
Status
Chromosome4
Chromosomal Location129676355-129696838 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to A at 129692518 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102588] [ENSMUST00000125445] [ENSMUST00000137640] [ENSMUST00000147668]
Predicted Effect probably null
Transcript: ENSMUST00000102588
SMART Domains Protein: ENSMUSP00000099648
Gene: ENSMUSG00000053730

DomainStartEndE-ValueType
Pfam:Tmp39 48 478 1.6e-207 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125445
SMART Domains Protein: ENSMUSP00000121505
Gene: ENSMUSG00000053730

DomainStartEndE-ValueType
Pfam:Tmp39 46 122 3.6e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000137640
SMART Domains Protein: ENSMUSP00000115156
Gene: ENSMUSG00000053730

DomainStartEndE-ValueType
Pfam:Tmp39 1 70 1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147668
SMART Domains Protein: ENSMUSP00000120048
Gene: ENSMUSG00000053730

DomainStartEndE-ValueType
Pfam:Tmp39 46 121 6.8e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,573 S378R probably benign Het
Abca14 T A 7: 120,253,389 M859K probably benign Het
Adamts13 C T 2: 26,985,483 P462S probably damaging Het
Apol7a G T 15: 77,393,490 D19E possibly damaging Het
Armc8 T C 9: 99,483,978 N628D possibly damaging Het
Astn2 T A 4: 66,266,234 I209F unknown Het
Atp10b T C 11: 43,194,665 probably null Het
C4b C T 17: 34,734,491 C1006Y probably damaging Het
Capn13 A G 17: 73,330,998 L470P probably damaging Het
Col4a4 T C 1: 82,453,809 R1585G unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd3 C T 15: 47,585,688 V3637M probably damaging Het
Dgki C T 6: 37,016,675 D584N probably damaging Het
Dmrt2 T C 19: 25,678,134 S366P probably damaging Het
Dmtf1 A C 5: 9,136,070 L172R probably damaging Het
Efhc2 A G X: 17,230,578 F177L probably damaging Het
Enpep T A 3: 129,270,277 probably benign Het
Enpp6 A T 8: 47,065,932 D245V probably damaging Het
Fam199x T A X: 137,062,650 probably benign Het
Fkbp4 A T 6: 128,434,470 probably benign Het
Gas7 A G 11: 67,643,332 H86R probably benign Het
Gcc2 A G 10: 58,271,636 N862S probably benign Het
Gstm7 T C 3: 107,930,278 D115G possibly damaging Het
Gtse1 C A 15: 85,862,598 P205Q possibly damaging Het
Herc4 G A 10: 63,273,566 M193I probably benign Het
Hist1h2ba A T 13: 23,934,110 F16Y probably benign Het
Igfl3 T A 7: 18,179,838 C38S possibly damaging Het
Il18rap G A 1: 40,547,922 D455N probably damaging Het
Ints8 A G 4: 11,209,244 I932T probably damaging Het
Itgbl1 A C 14: 123,972,141 I311L probably benign Het
Jmjd1c A T 10: 67,220,322 H794L probably damaging Het
Kif1a A G 1: 93,020,549 S1542P probably benign Het
Klc3 T A 7: 19,395,825 N373I probably damaging Het
Lcn2 T C 2: 32,384,865 *201W probably null Het
Ldhb A T 6: 142,495,566 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Npat T A 9: 53,559,117 S348T probably benign Het
Pclo A T 5: 14,856,985 D5001V unknown Het
Peg3 C A 7: 6,709,011 A1071S probably benign Het
Piwil2 A T 14: 70,391,373 D731E possibly damaging Het
Prss41 T A 17: 23,843,856 D35V probably benign Het
Ptprz1 T A 6: 22,965,182 D159E possibly damaging Het
Rabep1 C T 11: 70,923,197 Q571* probably null Het
Scn8a A G 15: 101,029,572 probably null Het
Sipa1l2 G A 8: 125,447,837 T1234I possibly damaging Het
Slc5a10 T A 11: 61,673,912 M414L probably benign Het
Smg5 T C 3: 88,352,998 S632P possibly damaging Het
Smim15 A G 13: 108,047,514 D18G probably benign Het
Sorl1 T A 9: 42,018,182 I1132F probably damaging Het
Spatc1 T C 15: 76,283,539 probably benign Het
Sytl2 A T 7: 90,381,214 probably benign Het
Tesc A G 5: 118,061,618 D195G probably damaging Het
Vmn2r52 A G 7: 10,171,102 V270A probably damaging Het
Wdr3 C A 3: 100,146,700 probably null Het
Other mutations in Tmem39b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Tmem39b APN 4 129678649 missense probably damaging 1.00
PIT4514001:Tmem39b UTSW 4 129684497 missense possibly damaging 0.48
R0502:Tmem39b UTSW 4 129686986 missense possibly damaging 0.95
R0503:Tmem39b UTSW 4 129686986 missense possibly damaging 0.95
R1483:Tmem39b UTSW 4 129676663 missense probably damaging 1.00
R1522:Tmem39b UTSW 4 129684482 missense probably benign 0.30
R1612:Tmem39b UTSW 4 129686922 missense possibly damaging 0.70
R1751:Tmem39b UTSW 4 129693183 missense possibly damaging 0.95
R1767:Tmem39b UTSW 4 129693183 missense possibly damaging 0.95
R1771:Tmem39b UTSW 4 129693218 missense probably damaging 0.99
R2140:Tmem39b UTSW 4 129678688 missense probably benign 0.30
R2202:Tmem39b UTSW 4 129693923 missense probably benign 0.03
R2204:Tmem39b UTSW 4 129693923 missense probably benign 0.03
R2205:Tmem39b UTSW 4 129693923 missense probably benign 0.03
R6176:Tmem39b UTSW 4 129693101 missense probably damaging 1.00
R6247:Tmem39b UTSW 4 129686791 missense possibly damaging 0.69
R6551:Tmem39b UTSW 4 129692103 missense probably benign
R6654:Tmem39b UTSW 4 129686826 missense probably damaging 1.00
R6934:Tmem39b UTSW 4 129678573 missense possibly damaging 0.51
R6988:Tmem39b UTSW 4 129693148 missense possibly damaging 0.92
R7614:Tmem39b UTSW 4 129693901 missense probably damaging 1.00
R8129:Tmem39b UTSW 4 129678675 missense probably damaging 0.99
X0024:Tmem39b UTSW 4 129684447 missense possibly damaging 0.94
Z1088:Tmem39b UTSW 4 129692477 missense probably benign 0.03
Posted On2015-04-16