Incidental Mutation 'R0502:Tmem39b'
ID 47190
Institutional Source Beutler Lab
Gene Symbol Tmem39b
Ensembl Gene ENSMUSG00000053730
Gene Name transmembrane protein 39b
Synonyms 6330509E05Rik
MMRRC Submission 038697-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R0502 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129570148-129590631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 129580779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 238 (Y238D)
Ref Sequence ENSEMBL: ENSMUSP00000099648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102588] [ENSMUST00000125445] [ENSMUST00000137640]
AlphaFold Q810L4
Predicted Effect possibly damaging
Transcript: ENSMUST00000102588
AA Change: Y238D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099648
Gene: ENSMUSG00000053730
AA Change: Y238D

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 benign
Transcript: ENSMUST00000137640
SMART Domains Protein: ENSMUSP00000115156
Gene: ENSMUSG00000053730

DomainStartEndE-ValueType
Pfam:Tmp39 1 70 1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184308
Meta Mutation Damage Score 0.3959 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,322 (GRCm39) H755R possibly damaging Het
Ano1 A G 7: 144,150,952 (GRCm39) L821P probably damaging Het
Apol10b T A 15: 77,476,349 (GRCm39) probably benign Het
Atp2c2 A G 8: 120,461,316 (GRCm39) E279G probably null Het
Ccar2 A G 14: 70,378,431 (GRCm39) S625P probably benign Het
Ccdc110 A G 8: 46,387,761 (GRCm39) probably benign Het
Cep350 A T 1: 155,776,629 (GRCm39) probably null Het
Chd3 A G 11: 69,244,931 (GRCm39) V1203A probably damaging Het
Col24a1 A G 3: 145,251,071 (GRCm39) probably benign Het
Col6a6 A T 9: 105,644,550 (GRCm39) M1246K probably benign Het
Crot A G 5: 9,026,075 (GRCm39) V304A possibly damaging Het
Dapk1 T A 13: 60,878,662 (GRCm39) probably null Het
Dicer1 A T 12: 104,671,319 (GRCm39) S984T probably damaging Het
Dmbt1 G A 7: 130,699,403 (GRCm39) probably null Het
Dnah7b A T 1: 46,258,704 (GRCm39) E1965V probably damaging Het
Dpp4 G T 2: 62,195,332 (GRCm39) N315K probably damaging Het
Eeig2 G A 3: 108,900,001 (GRCm39) R116C probably damaging Het
Fat4 T A 3: 39,057,073 (GRCm39) S4256R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gpatch4 A G 3: 87,962,672 (GRCm39) D295G probably benign Het
Gpbar1 A T 1: 74,318,551 (GRCm39) I265F probably benign Het
Gria1 T G 11: 57,080,542 (GRCm39) V175G probably damaging Het
Hacl1 A T 14: 31,344,941 (GRCm39) probably benign Het
Hnrnpc A G 14: 52,312,629 (GRCm39) probably benign Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ifnar1 T A 16: 91,298,639 (GRCm39) C419S probably damaging Het
Irx4 T A 13: 73,414,703 (GRCm39) probably null Het
Itga2 T G 13: 114,982,392 (GRCm39) N1038H probably benign Het
Kif16b C T 2: 142,554,075 (GRCm39) D908N probably benign Het
Lamc1 A G 1: 153,122,678 (GRCm39) probably benign Het
Lrig3 A G 10: 125,844,605 (GRCm39) T690A probably damaging Het
Lrp2 T C 2: 69,341,361 (GRCm39) K940E probably damaging Het
Macf1 A G 4: 123,363,608 (GRCm39) S1775P probably damaging Het
Mrps27 G T 13: 99,546,303 (GRCm39) probably benign Het
Ncam1 A G 9: 49,481,118 (GRCm39) probably benign Het
Nopchap1 A G 10: 83,197,920 (GRCm39) D42G probably damaging Het
Or2z2 T C 11: 58,346,140 (GRCm39) I212V possibly damaging Het
Or51a5 A T 7: 102,771,643 (GRCm39) M112K possibly damaging Het
Pbrm1 T G 14: 30,786,777 (GRCm39) D631E probably benign Het
Pdc A T 1: 150,204,165 (GRCm39) probably benign Het
Pkd1 T C 17: 24,793,766 (GRCm39) S1818P probably damaging Het
Ptpru T C 4: 131,520,954 (GRCm39) N784S probably benign Het
Rab35 G A 5: 115,783,723 (GRCm39) R170Q probably benign Het
Rerg A T 6: 137,033,305 (GRCm39) C123* probably null Het
Ros1 A G 10: 52,070,919 (GRCm39) probably benign Het
Siglece A G 7: 43,309,355 (GRCm39) Y68H probably damaging Het
Slc28a2 T A 2: 122,288,762 (GRCm39) probably null Het
Slc4a11 T C 2: 130,530,077 (GRCm39) K234E probably damaging Het
Sqor C T 2: 122,639,970 (GRCm39) P158S probably benign Het
Tcerg1 C T 18: 42,656,021 (GRCm39) P110S unknown Het
Tm6sf2 T A 8: 70,530,591 (GRCm39) Y224N probably damaging Het
Ttll10 T C 4: 156,132,005 (GRCm39) probably benign Het
Ubap2l A T 3: 89,916,520 (GRCm39) L898Q probably damaging Het
Uggt1 A T 1: 36,199,027 (GRCm39) V1207E probably damaging Het
Uhrf2 A G 19: 30,070,176 (GRCm39) D775G probably damaging Het
Utp25 A T 1: 192,797,136 (GRCm39) probably benign Het
Vmn1r196 G A 13: 22,477,557 (GRCm39) M65I probably benign Het
Vmn1r87 T G 7: 12,865,583 (GRCm39) T235P probably damaging Het
Vmn2r96 T A 17: 18,804,262 (GRCm39) M504K probably benign Het
Zdbf2 A T 1: 63,344,449 (GRCm39) I943F possibly damaging Het
Zfp78 A G 7: 6,376,157 (GRCm39) D22G probably damaging Het
Zfp827 C T 8: 79,905,706 (GRCm39) probably null Het
Zfyve9 A T 4: 108,576,961 (GRCm39) L40* probably null Het
Other mutations in Tmem39b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:Tmem39b APN 4 129,586,311 (GRCm39) critical splice acceptor site probably null
IGL02423:Tmem39b APN 4 129,572,442 (GRCm39) missense probably damaging 1.00
PIT4514001:Tmem39b UTSW 4 129,578,290 (GRCm39) missense possibly damaging 0.48
R0503:Tmem39b UTSW 4 129,580,779 (GRCm39) missense possibly damaging 0.95
R1483:Tmem39b UTSW 4 129,570,456 (GRCm39) missense probably damaging 1.00
R1522:Tmem39b UTSW 4 129,578,275 (GRCm39) missense probably benign 0.30
R1612:Tmem39b UTSW 4 129,580,715 (GRCm39) missense possibly damaging 0.70
R1751:Tmem39b UTSW 4 129,586,976 (GRCm39) missense possibly damaging 0.95
R1767:Tmem39b UTSW 4 129,586,976 (GRCm39) missense possibly damaging 0.95
R1771:Tmem39b UTSW 4 129,587,011 (GRCm39) missense probably damaging 0.99
R2140:Tmem39b UTSW 4 129,572,481 (GRCm39) missense probably benign 0.30
R2202:Tmem39b UTSW 4 129,587,716 (GRCm39) missense probably benign 0.03
R2204:Tmem39b UTSW 4 129,587,716 (GRCm39) missense probably benign 0.03
R2205:Tmem39b UTSW 4 129,587,716 (GRCm39) missense probably benign 0.03
R6176:Tmem39b UTSW 4 129,586,894 (GRCm39) missense probably damaging 1.00
R6247:Tmem39b UTSW 4 129,580,584 (GRCm39) missense possibly damaging 0.69
R6551:Tmem39b UTSW 4 129,585,896 (GRCm39) missense probably benign
R6654:Tmem39b UTSW 4 129,580,619 (GRCm39) missense probably damaging 1.00
R6934:Tmem39b UTSW 4 129,572,366 (GRCm39) missense possibly damaging 0.51
R6988:Tmem39b UTSW 4 129,586,941 (GRCm39) missense possibly damaging 0.92
R7614:Tmem39b UTSW 4 129,587,694 (GRCm39) missense probably damaging 1.00
R8129:Tmem39b UTSW 4 129,572,468 (GRCm39) missense probably damaging 0.99
R8708:Tmem39b UTSW 4 129,570,191 (GRCm39) unclassified probably benign
R9249:Tmem39b UTSW 4 129,572,468 (GRCm39) missense probably damaging 0.99
X0024:Tmem39b UTSW 4 129,578,240 (GRCm39) missense possibly damaging 0.94
Z1088:Tmem39b UTSW 4 129,586,270 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CATAGTAGGCACTCAGCATGGAGC -3'
(R):5'- GAACCATTGACTTGGATGGAGACGG -3'

Sequencing Primer
(F):5'- CTCAGCATGGAGCTGACAAG -3'
(R):5'- AAGTCAGTGTTGTCCCCG -3'
Posted On 2013-06-12