Incidental Mutation 'R8513:Tmem184b'
ID 655999
Institutional Source Beutler Lab
Gene Symbol Tmem184b
Ensembl Gene ENSMUSG00000009035
Gene Name transmembrane protein 184b
Synonyms 4732495E13Rik
MMRRC Submission 067889-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R8513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 79244884-79287503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79254123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 142 (S142T)
Ref Sequence ENSEMBL: ENSMUSP00000074518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074991] [ENSMUST00000178522] [ENSMUST00000228002] [ENSMUST00000228472] [ENSMUST00000231076]
AlphaFold Q8BG09
Predicted Effect probably benign
Transcript: ENSMUST00000074991
AA Change: S142T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000074518
Gene: ENSMUSG00000009035
AA Change: S142T

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
Pfam:Solute_trans_a 46 319 2.9e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178522
AA Change: S142T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000136416
Gene: ENSMUSG00000009035
AA Change: S142T

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
Pfam:Solute_trans_a 43 319 1.9e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228002
AA Change: S142T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000228472
Predicted Effect probably benign
Transcript: ENSMUST00000231076
AA Change: S2T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit delayed axon degeneration following peripheral nerve injury, progressive structural abnormalities at neuromuscular synapses, swellings within sensory terminals, sensory-motor dysfunction, and abnormal autophagy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoe C A 7: 19,430,565 (GRCm39) G226W probably damaging Het
Armc9 T C 1: 86,090,405 (GRCm39) F67L probably damaging Het
Bsn T C 9: 107,991,709 (GRCm39) I1348V possibly damaging Het
Cdc73 C A 1: 143,493,129 (GRCm39) E402* probably null Het
Coro2a ACCAGAAGAGCCATCCAG ACCAG 4: 46,544,117 (GRCm39) probably null Het
Cpt2 G A 4: 107,764,123 (GRCm39) A547V probably damaging Het
Cpxm2 A T 7: 131,745,431 (GRCm39) H131Q probably benign Het
Ctdp1 G A 18: 80,492,678 (GRCm39) L606F possibly damaging Het
Dot1l T C 10: 80,627,260 (GRCm39) S1494P possibly damaging Het
Evpl C T 11: 116,120,570 (GRCm39) probably null Het
Fgd3 T C 13: 49,417,400 (GRCm39) T688A probably benign Het
Galnt3 A T 2: 65,924,064 (GRCm39) C401* probably null Het
Gml2 C G 15: 74,696,004 (GRCm39) P133A probably damaging Het
Hepacam A G 9: 37,291,930 (GRCm39) E86G probably benign Het
Ilf3 A G 9: 21,299,932 (GRCm39) E39G possibly damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Kiz A G 2: 146,712,684 (GRCm39) probably null Het
Myo1e T A 9: 70,227,370 (GRCm39) L147H probably damaging Het
Naa15 T A 3: 51,367,444 (GRCm39) V539E probably damaging Het
Nlrp6 A C 7: 140,502,743 (GRCm39) D283A possibly damaging Het
Ntf5 A G 7: 45,065,179 (GRCm39) T104A probably damaging Het
Or1e28-ps1 A G 11: 73,615,148 (GRCm39) V234A unknown Het
Pacsin3 A C 2: 91,093,150 (GRCm39) N214T probably benign Het
Pcdha6 T C 18: 37,102,229 (GRCm39) I474T probably damaging Het
Pcdhgb1 A G 18: 37,813,581 (GRCm39) Y24C probably damaging Het
Pde2a A T 7: 101,158,972 (GRCm39) N749Y probably damaging Het
Ptpn3 G A 4: 57,270,085 (GRCm39) R26* probably null Het
Rab7 T C 6: 87,981,250 (GRCm39) Y144C probably benign Het
Ralgps1 T C 2: 33,226,626 (GRCm39) S22G probably damaging Het
Setdb2 G A 14: 59,639,839 (GRCm39) T668M probably damaging Het
Slit2 T A 5: 48,382,050 (GRCm39) C510* probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spata2l T C 8: 123,960,438 (GRCm39) M284V probably benign Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Stab1 C A 14: 30,871,747 (GRCm39) probably null Het
Tmem201 A T 4: 149,812,380 (GRCm39) M312K probably damaging Het
Tpp1 A T 7: 105,398,786 (GRCm39) D214E possibly damaging Het
Trav7-2 C T 14: 53,628,478 (GRCm39) S72F probably damaging Het
Vmn1r37 A G 6: 66,708,820 (GRCm39) T149A probably benign Het
Zfp512 T C 5: 31,637,425 (GRCm39) S505P probably damaging Het
Zfp942 T C 17: 22,147,282 (GRCm39) D449G probably benign Het
Other mutations in Tmem184b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01696:Tmem184b APN 15 79,262,729 (GRCm39) missense possibly damaging 0.94
IGL02544:Tmem184b APN 15 79,250,007 (GRCm39) missense probably damaging 1.00
IGL03330:Tmem184b APN 15 79,254,179 (GRCm39) splice site probably null
R0172:Tmem184b UTSW 15 79,262,740 (GRCm39) missense possibly damaging 0.56
R1938:Tmem184b UTSW 15 79,250,014 (GRCm39) missense probably damaging 1.00
R2340:Tmem184b UTSW 15 79,262,732 (GRCm39) missense probably benign 0.00
R2418:Tmem184b UTSW 15 79,250,143 (GRCm39) missense possibly damaging 0.78
R4771:Tmem184b UTSW 15 79,261,377 (GRCm39) missense probably benign 0.03
R5945:Tmem184b UTSW 15 79,249,681 (GRCm39) critical splice acceptor site probably null
R6996:Tmem184b UTSW 15 79,246,959 (GRCm39) missense probably benign 0.01
R7823:Tmem184b UTSW 15 79,249,491 (GRCm39) missense probably benign 0.01
R8004:Tmem184b UTSW 15 79,246,966 (GRCm39) missense probably damaging 0.99
R8988:Tmem184b UTSW 15 79,261,264 (GRCm39) missense possibly damaging 0.87
R9674:Tmem184b UTSW 15 79,249,524 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AATCCGATGGAGTAGGTCTTTCC -3'
(R):5'- AGGTCAGAGGTCATCAGACG -3'

Sequencing Primer
(F):5'- TGCCGTACATACAGCTGGAC -3'
(R):5'- TCAGAGGTCATCAGACGACTGC -3'
Posted On 2020-10-20