Incidental Mutation 'R6654:Tmem39b'
ID526551
Institutional Source Beutler Lab
Gene Symbol Tmem39b
Ensembl Gene ENSMUSG00000053730
Gene Nametransmembrane protein 39b
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.341) question?
Stock #R6654 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location129676355-129696838 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129686826 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 291 (V291D)
Ref Sequence ENSEMBL: ENSMUSP00000099648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102588] [ENSMUST00000125445]
Predicted Effect probably damaging
Transcript: ENSMUST00000102588
AA Change: V291D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099648
Gene: ENSMUSG00000053730
AA Change: V291D

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 noncoding transcript
Transcript: ENSMUST00000184308
Meta Mutation Damage Score 0.8236 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T A 2: 111,171,884 M154L unknown Het
Akr1b3 C T 6: 34,310,004 V206M possibly damaging Het
Armc6 T C 8: 70,231,375 E9G probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 probably null Het
Ddc A T 11: 11,880,452 I64N probably damaging Het
Exd1 T A 2: 119,524,717 probably null Het
Gm13757 T G 2: 88,446,672 T89P possibly damaging Het
Gm15922 A T 7: 3,735,929 S560T probably benign Het
Gm4847 C A 1: 166,630,387 G466C probably damaging Het
Gm5431 T C 11: 48,894,600 D316G possibly damaging Het
Gsta4 T C 9: 78,209,099 F197L probably damaging Het
Irs2 A G 8: 11,006,486 Y649H probably damaging Het
Kif16b T C 2: 142,701,277 probably benign Het
Krtap12-1 T C 10: 77,720,703 probably benign Het
Ktn1 G A 14: 47,690,000 S537N probably damaging Het
Med12l G T 3: 59,262,292 G1626W probably damaging Het
Mfng T A 15: 78,759,339 T223S probably damaging Het
Msh3 T C 13: 92,345,042 T321A probably benign Het
Myo7b T C 18: 31,990,269 I672V possibly damaging Het
Nbas C T 12: 13,483,874 Q1837* probably null Het
Nlrc4 G A 17: 74,445,528 A620V possibly damaging Het
Nubpl T A 12: 52,310,733 V310E probably damaging Het
Olfr1109 A G 2: 87,093,050 S116P probably benign Het
P2ry12 A G 3: 59,218,020 L78P probably damaging Het
Pkd1l3 T G 8: 109,624,283 S587A probably benign Het
Prkacb A G 3: 146,750,543 V145A possibly damaging Het
Rpgrip1l T C 8: 91,220,205 E1256G probably benign Het
Rsph4a A G 10: 33,912,992 Q611R probably benign Het
Sorl1 T C 9: 41,980,645 D1903G possibly damaging Het
Unc79 A C 12: 103,079,048 K685Q probably damaging Het
Unc79 A T 12: 103,079,049 K685I probably damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Vmn2r112 G T 17: 22,603,469 S376I possibly damaging Het
Zfp850 A T 7: 27,985,215 C35* probably null Het
Zfp974 A G 7: 27,926,403 V14A probably damaging Het
Other mutations in Tmem39b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:Tmem39b APN 4 129692518 critical splice acceptor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- GAACTTCTATCACAACTGGCAGTC -3'
(R):5'- GTCGGGACTACTTTCTGACAC -3'

Sequencing Primer
(F):5'- TCATGAGACTGCAGATGTGACTC -3'
(R):5'- TACTTTCTGACACTGCGGGAGAC -3'
Posted On2018-07-23