Incidental Mutation 'R6654:Tmem39b'
ID 526551
Institutional Source Beutler Lab
Gene Symbol Tmem39b
Ensembl Gene ENSMUSG00000053730
Gene Name transmembrane protein 39b
Synonyms 6330509E05Rik
MMRRC Submission 044775-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R6654 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129570148-129590631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129580619 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q810L4
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
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Armc6 T C 8: 70,684,025 (GRCm39) E9G probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ddc A T 11: 11,830,452 (GRCm39) I64N probably damaging Het
Exd1 T A 2: 119,355,198 (GRCm39) probably null Het
Gm4847 C A 1: 166,457,956 (GRCm39) G466C probably damaging Het
Gm5431 T C 11: 48,785,427 (GRCm39) D316G possibly damaging Het
Gsta4 T C 9: 78,116,381 (GRCm39) F197L probably damaging Het
Irs2 A G 8: 11,056,486 (GRCm39) Y649H probably damaging Het
Kif16b T C 2: 142,543,197 (GRCm39) probably benign Het
Krtap12-1 T C 10: 77,556,537 (GRCm39) probably benign Het
Ktn1 G A 14: 47,927,457 (GRCm39) S537N probably damaging Het
Med12l G T 3: 59,169,713 (GRCm39) G1626W probably damaging Het
Mfng T A 15: 78,643,539 (GRCm39) T223S probably damaging Het
Msh3 T C 13: 92,481,550 (GRCm39) T321A probably benign Het
Myo7b T C 18: 32,123,322 (GRCm39) I672V possibly damaging Het
Nbas C T 12: 13,533,875 (GRCm39) Q1837* probably null Het
Nlrc4 G A 17: 74,752,523 (GRCm39) A620V possibly damaging Het
Nubpl T A 12: 52,357,516 (GRCm39) V310E probably damaging Het
Or4p21 T G 2: 88,277,016 (GRCm39) T89P possibly damaging Het
Or5aq6 A G 2: 86,923,394 (GRCm39) S116P probably benign Het
P2ry12 A G 3: 59,125,441 (GRCm39) L78P probably damaging Het
Pira1 A T 7: 3,738,928 (GRCm39) S560T probably benign Het
Pkd1l3 T G 8: 110,350,915 (GRCm39) S587A probably benign Het
Potefam1 T A 2: 111,002,229 (GRCm39) M154L unknown Het
Prkacb A G 3: 146,456,298 (GRCm39) V145A possibly damaging Het
Rpgrip1l T C 8: 91,946,833 (GRCm39) E1256G probably benign Het
Rsph4a A G 10: 33,788,988 (GRCm39) Q611R probably benign Het
Sorl1 T C 9: 41,891,941 (GRCm39) D1903G possibly damaging Het
Unc79 A C 12: 103,045,307 (GRCm39) K685Q probably damaging Het
Unc79 A T 12: 103,045,308 (GRCm39) K685I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r112 G T 17: 22,822,450 (GRCm39) S376I possibly damaging Het
Zfp850 A T 7: 27,684,640 (GRCm39) C35* probably null Het
Zfp974 A G 7: 27,625,828 (GRCm39) V14A probably damaging 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
R0502:Tmem39b UTSW 4 129,580,779 (GRCm39) missense possibly damaging 0.95
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
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'- GAACTTCTATCACAACTGGCAGTC -3'
(R):5'- GTCGGGACTACTTTCTGACAC -3'

Sequencing Primer
(F):5'- TCATGAGACTGCAGATGTGACTC -3'
(R):5'- TACTTTCTGACACTGCGGGAGAC -3'
Posted On 2018-07-23