Incidental Mutation 'R0172:Tmem184b'
ID 24293
Institutional Source Beutler Lab
Gene Symbol Tmem184b
Ensembl Gene ENSMUSG00000009035
Gene Name transmembrane protein 184b
Synonyms 4732495E13Rik
MMRRC Submission 038444-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R0172 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 79244884-79287503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79262740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 39 (V39A)
Ref Sequence ENSEMBL: ENSMUSP00000154053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074991] [ENSMUST00000178522] [ENSMUST00000228002] [ENSMUST00000228472] [ENSMUST00000229049] [ENSMUST00000231076]
AlphaFold Q8BG09
Predicted Effect probably benign
Transcript: ENSMUST00000074991
AA Change: V39A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074518
Gene: ENSMUSG00000009035
AA Change: V39A

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
Pfam:Solute_trans_a 46 319 2.9e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158276
Predicted Effect probably benign
Transcript: ENSMUST00000178522
AA Change: V39A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136416
Gene: ENSMUSG00000009035
AA Change: V39A

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: V39A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228472
AA Change: V39A

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229003
Predicted Effect unknown
Transcript: ENSMUST00000229049
AA Change: V39A
Predicted Effect probably benign
Transcript: ENSMUST00000231076
Meta Mutation Damage Score 0.1560 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 82% (40/49)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,645,578 (GRCm39) C488S probably damaging Het
Abca12 T G 1: 71,318,561 (GRCm39) D1814A probably damaging Het
Acp7 T C 7: 28,314,549 (GRCm39) N272S possibly damaging Het
Ank3 T C 10: 69,811,888 (GRCm39) V1145A probably damaging Het
Ap1m2 A T 9: 21,209,628 (GRCm39) probably null Het
Atp12a T C 14: 56,610,301 (GRCm39) V224A probably damaging Het
Cdh23 T C 10: 60,155,411 (GRCm39) E2253G probably damaging Het
Cep350 T C 1: 155,829,193 (GRCm39) N237S probably benign Het
Crispld2 T C 8: 120,752,810 (GRCm39) V286A possibly damaging Het
Cyp2c65 G T 19: 39,076,100 (GRCm39) V351L possibly damaging Het
D130043K22Rik T C 13: 25,056,389 (GRCm39) F574L probably benign Het
Dag1 G A 9: 108,086,031 (GRCm39) T370M possibly damaging Het
Dmwd C T 7: 18,814,267 (GRCm39) R306C probably damaging Het
Dnah11 T C 12: 117,951,188 (GRCm39) Y3040C probably damaging Het
Dst C A 1: 34,309,935 (GRCm39) H1536Q probably damaging Het
Eif3j1 A G 2: 121,882,246 (GRCm39) I202V probably benign Het
Epg5 T A 18: 78,070,574 (GRCm39) V2283D probably benign Het
Evi5 T C 5: 107,938,328 (GRCm39) N625S probably benign Het
Exosc10 T C 4: 148,649,814 (GRCm39) S415P probably benign Het
F830016B08Rik G T 18: 60,433,036 (GRCm39) D40Y possibly damaging Het
Fam118a A G 15: 84,929,951 (GRCm39) I60V probably benign Het
Fam186a A T 15: 99,852,768 (GRCm39) M150K unknown Het
Fam193a C T 5: 34,622,957 (GRCm39) R1182W probably damaging Het
Fastkd2 T A 1: 63,771,187 (GRCm39) I181K possibly damaging Het
Hip1r T A 5: 124,135,003 (GRCm39) Y380N possibly damaging Het
Hivep2 C A 10: 14,015,218 (GRCm39) P1795Q probably damaging Het
Hnrnpab T C 11: 51,493,494 (GRCm39) E238G probably damaging Het
Kcnma1 C T 14: 23,853,234 (GRCm39) A172T probably damaging Het
Lipg G T 18: 75,081,245 (GRCm39) H279N possibly damaging Het
Lrrc9 A G 12: 72,510,260 (GRCm39) D453G possibly damaging Het
Map1s T A 8: 71,367,612 (GRCm39) M839K probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myo1h T A 5: 114,467,225 (GRCm39) probably null Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nrn1 T C 13: 36,914,544 (GRCm39) R19G probably benign Het
Nwd2 T C 5: 63,963,712 (GRCm39) Y1099H probably benign Het
Nxpe2 G A 9: 48,231,209 (GRCm39) R387C possibly damaging Het
Or2a25 T C 6: 42,888,913 (GRCm39) V152A probably benign Het
Pappa2 C T 1: 158,682,419 (GRCm39) probably null Het
Pcdhb13 A T 18: 37,575,990 (GRCm39) I123L probably benign Het
Plcg2 A G 8: 118,306,521 (GRCm39) T292A probably benign Het
Pnpla8 T A 12: 44,358,111 (GRCm39) V469D probably damaging Het
Pop4 T C 7: 37,962,679 (GRCm39) Y195C probably damaging Het
Rbsn A T 6: 92,188,588 (GRCm39) D42E probably damaging Het
Sclt1 A T 3: 41,672,222 (GRCm39) I123N possibly damaging Het
Slc22a27 C A 19: 7,843,201 (GRCm39) G393* probably null Het
Smu1 C T 4: 40,738,439 (GRCm39) V432I probably benign Het
Sohlh1 A G 2: 25,736,215 (GRCm39) probably null Het
Spta1 T A 1: 174,058,352 (GRCm39) I1940K probably damaging Het
Sufu G T 19: 46,385,563 (GRCm39) V8F possibly damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem236 A G 2: 14,223,694 (GRCm39) D161G probably benign Het
Ufl1 T C 4: 25,280,685 (GRCm39) K54R probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T 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
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
R8513:Tmem184b UTSW 15 79,254,123 (GRCm39) missense probably benign 0.00
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'- AGCAGGTCGTAGCAGACAAGCATC -3'
(R):5'- AGGGTTGTTCACAGCACACCAC -3'

Sequencing Primer
(F):5'- AGACAAGCATCTGTGTGTCTC -3'
(R):5'- ACCGCTCGCTCGCTTATTC -3'
Posted On 2013-04-16