Incidental Mutation 'R7357:Tmem39a'
ID 571054
Institutional Source Beutler Lab
Gene Symbol Tmem39a
Ensembl Gene ENSMUSG00000002845
Gene Name transmembrane protein 39a
Synonyms
MMRRC Submission 045443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R7357 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38379060-38412524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38406592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 310 (Y310N)
Ref Sequence ENSEMBL: ENSMUSP00000002924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002924] [ENSMUST00000163884] [ENSMUST00000163948] [ENSMUST00000171687]
AlphaFold Q9CYC3
Predicted Effect probably damaging
Transcript: ENSMUST00000002924
AA Change: Y310N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002924
Gene: ENSMUSG00000002845
AA Change: Y310N

DomainStartEndE-ValueType
Pfam:Tmp39 40 476 9.4e-198 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163884
AA Change: Y310N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132515
Gene: ENSMUSG00000002845
AA Change: Y310N

DomainStartEndE-ValueType
low complexity region 26 41 N/A INTRINSIC
Pfam:Tmp39 42 475 1.3e-198 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163948
AA Change: Y156N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130791
Gene: ENSMUSG00000002845
AA Change: Y156N

DomainStartEndE-ValueType
low complexity region 26 34 N/A INTRINSIC
Pfam:Tmp39 35 164 7.1e-44 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000130186
Gene: ENSMUSG00000002845
AA Change: Y7N

DomainStartEndE-ValueType
Pfam:Tmp39 1 101 9.7e-49 PFAM
Pfam:Tmp39 99 134 1.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166854
SMART Domains Protein: ENSMUSP00000127040
Gene: ENSMUSG00000002845

DomainStartEndE-ValueType
Pfam:Tmp39 1 152 4.9e-44 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000127143
Gene: ENSMUSG00000002845
AA Change: Y123N

DomainStartEndE-ValueType
Pfam:Tmp39 1 190 2.2e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171687
AA Change: Y242N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126218
Gene: ENSMUSG00000002845
AA Change: Y242N

DomainStartEndE-ValueType
Pfam:Tmp39 40 192 4.4e-62 PFAM
Pfam:Tmp39 193 408 4.2e-119 PFAM
Meta Mutation Damage Score 0.8576 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 97% (64/66)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A T 2: 155,845,787 (GRCm39) H23Q unknown Het
9530068E07Rik A T 11: 52,297,821 (GRCm39) K233I probably damaging Het
Aldh1l2 T C 10: 83,350,408 (GRCm39) M320V possibly damaging Het
C2cd3 A G 7: 100,079,310 (GRCm39) N838S Het
Cacna1s T C 1: 135,998,759 (GRCm39) F218S probably damaging Het
Carmil3 G T 14: 55,728,590 (GRCm39) probably benign Het
Cd300a A T 11: 114,784,153 (GRCm39) T54S probably benign Het
Celf3 G A 3: 94,387,637 (GRCm39) E70K probably damaging Het
Celsr1 A C 15: 85,914,715 (GRCm39) M1086R probably benign Het
Ces2f G A 8: 105,676,595 (GRCm39) M96I probably benign Het
Chrdl2 G A 7: 99,678,414 (GRCm39) V329I probably benign Het
Ctc1 T A 11: 68,925,568 (GRCm39) L1035Q probably benign Het
Dbi A G 1: 120,047,623 (GRCm39) probably null Het
Dock3 A G 9: 106,882,568 (GRCm39) I405T probably benign Het
Dpp4 A T 2: 62,217,421 (GRCm39) W59R probably benign Het
Dsg3 T A 18: 20,672,840 (GRCm39) I837N probably damaging Het
Fbxw15 A G 9: 109,387,308 (GRCm39) V229A probably benign Het
Fermt3 T C 19: 6,980,211 (GRCm39) T395A probably benign Het
Focad A T 4: 88,147,572 (GRCm39) I404F probably benign Het
Gm8104 T C 14: 42,959,068 (GRCm39) I86T probably damaging Het
Gm9857 A C 3: 108,847,478 (GRCm39) L95R unknown Het
Hoxa1 A T 6: 52,133,929 (GRCm39) S266T probably benign Het
Kif19b A G 5: 140,480,806 (GRCm39) R979G possibly damaging Het
Leng8 T A 7: 4,147,932 (GRCm39) Y625* probably null Het
Mast3 A G 8: 71,237,503 (GRCm39) V557A probably damaging Het
Morc1 T C 16: 48,442,953 (GRCm39) F813L probably benign Het
Ntf3 T A 6: 126,078,961 (GRCm39) I182F probably damaging Het
Nup153 G T 13: 46,870,642 (GRCm39) A91E probably benign Het
Or13l2 G C 3: 97,317,971 (GRCm39) N175K probably damaging Het
Or52h1 A T 7: 103,828,978 (GRCm39) D212E probably damaging Het
Pamr1 G A 2: 102,417,049 (GRCm39) W120* probably null Het
Pcsk1 A G 13: 75,274,079 (GRCm39) N436S probably damaging Het
Pde4dip T C 3: 97,622,857 (GRCm39) K1451E probably benign Het
Pebp4 G A 14: 70,285,864 (GRCm39) V176I possibly damaging Het
Phgdh G A 3: 98,247,138 (GRCm39) A4V probably benign Het
Pik3c2g T C 6: 139,610,791 (GRCm39) probably null Het
Ppic T C 18: 53,544,139 (GRCm39) Y82C probably damaging Het
Ppip5k2 A G 1: 97,686,941 (GRCm39) V94A possibly damaging Het
Ppp1r9b T C 11: 94,895,424 (GRCm39) V704A probably benign Het
Pramel6 G T 2: 87,340,856 (GRCm39) R396L not run Het
Prss48 A T 3: 85,904,528 (GRCm39) D223E probably damaging Het
Psd3 T C 8: 68,574,149 (GRCm39) K11E probably benign Het
Rabgap1l T C 1: 160,169,608 (GRCm39) K780E probably damaging Het
Retreg1 A T 15: 25,972,029 (GRCm39) D323V probably damaging Het
Samd11 A T 4: 156,340,067 (GRCm39) probably null Het
Sec14l3 T A 11: 4,020,127 (GRCm39) F188Y probably benign Het
Serpina5 A T 12: 104,069,639 (GRCm39) T284S possibly damaging Het
Setx A G 2: 29,020,313 (GRCm39) D100G probably benign Het
Sis A T 3: 72,832,404 (GRCm39) V1035D probably damaging Het
Slco4a1 A G 2: 180,113,930 (GRCm39) I456V probably benign Het
Snx14 A T 9: 88,286,369 (GRCm39) C393S possibly damaging Het
Stil T C 4: 114,871,423 (GRCm39) probably null Het
Sult6b1 A G 17: 79,202,059 (GRCm39) S148P probably damaging Het
Sycp2 G T 2: 178,045,597 (GRCm39) probably null Het
Tesmin T C 19: 3,447,042 (GRCm39) I273T probably benign Het
Trp53bp1 A T 2: 121,041,781 (GRCm39) D1258E probably damaging Het
Ttc12 A C 9: 49,349,687 (GRCm39) D703E probably benign Het
Unc13c TATAA TATAATAA 9: 73,840,810 (GRCm39) probably benign Het
Unc13c ATA ATAGTA 9: 73,840,811 (GRCm39) probably benign Het
Usp18 T C 6: 121,230,808 (GRCm39) I79T possibly damaging Het
Usp9y A T Y: 1,333,656 (GRCm39) D1596E possibly damaging Het
Vmn2r109 A T 17: 20,761,536 (GRCm39) V607E probably damaging Het
Vwa8 G A 14: 79,275,641 (GRCm39) R808K probably null Het
Zfp248 A G 6: 118,406,618 (GRCm39) Y324H probably damaging Het
Zfp513 G A 5: 31,357,132 (GRCm39) P387S possibly damaging Het
Other mutations in Tmem39a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03276:Tmem39a APN 16 38,405,646 (GRCm39) missense probably benign 0.01
R0270:Tmem39a UTSW 16 38,384,675 (GRCm39) splice site probably benign
R0382:Tmem39a UTSW 16 38,411,760 (GRCm39) utr 3 prime probably benign
R0539:Tmem39a UTSW 16 38,411,337 (GRCm39) missense probably benign 0.00
R0743:Tmem39a UTSW 16 38,405,764 (GRCm39) missense probably damaging 1.00
R1324:Tmem39a UTSW 16 38,393,531 (GRCm39) missense possibly damaging 0.84
R4052:Tmem39a UTSW 16 38,406,650 (GRCm39) missense probably damaging 1.00
R4799:Tmem39a UTSW 16 38,411,524 (GRCm39) utr 3 prime probably benign
R4919:Tmem39a UTSW 16 38,405,561 (GRCm39) missense probably benign
R5109:Tmem39a UTSW 16 38,411,326 (GRCm39) missense probably damaging 0.99
R5901:Tmem39a UTSW 16 38,393,568 (GRCm39) missense probably benign 0.00
R5978:Tmem39a UTSW 16 38,411,392 (GRCm39) missense probably benign 0.12
R5979:Tmem39a UTSW 16 38,396,106 (GRCm39) missense probably damaging 0.99
R6375:Tmem39a UTSW 16 38,405,599 (GRCm39) missense probably benign 0.00
R7485:Tmem39a UTSW 16 38,408,658 (GRCm39) missense possibly damaging 0.51
R8114:Tmem39a UTSW 16 38,411,359 (GRCm39) missense probably damaging 1.00
R8114:Tmem39a UTSW 16 38,411,358 (GRCm39) missense probably damaging 1.00
R9756:Tmem39a UTSW 16 38,396,126 (GRCm39) missense probably benign
Z1088:Tmem39a UTSW 16 38,396,140 (GRCm39) missense possibly damaging 0.69
Z1176:Tmem39a UTSW 16 38,408,586 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATTCAGAAGCACCTCTGCAG -3'
(R):5'- GAGCATTGCTGTAGAACCCATG -3'

Sequencing Primer
(F):5'- GGACTTCTGCAGCTTCACACAATTG -3'
(R):5'- GTAGAACCCATGCTCCAACTTCTG -3'
Posted On 2019-09-13