Incidental Mutation 'R6996:Tmem184b'
ID 544242
Institutional Source Beutler Lab
Gene Symbol Tmem184b
Ensembl Gene ENSMUSG00000009035
Gene Name transmembrane protein 184b
Synonyms 4732495E13Rik
MMRRC Submission 045102-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R6996 (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 79246959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 370 (L370Q)
Ref Sequence ENSEMBL: ENSMUSP00000136416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074991] [ENSMUST00000096350] [ENSMUST00000163691] [ENSMUST00000178522] [ENSMUST00000228002] [ENSMUST00000229130] [ENSMUST00000231076]
AlphaFold Q8BG09
Predicted Effect probably benign
Transcript: ENSMUST00000074991
AA Change: L370Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000074518
Gene: ENSMUSG00000009035
AA Change: L370Q

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: ENSMUST00000096350
SMART Domains Protein: ENSMUSP00000094076
Gene: ENSMUSG00000042622

DomainStartEndE-ValueType
BRLZ 49 113 5.09e-7 SMART
low complexity region 118 135 N/A INTRINSIC
low complexity region 143 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163691
SMART Domains Protein: ENSMUSP00000131628
Gene: ENSMUSG00000042622

DomainStartEndE-ValueType
BRLZ 49 113 5.09e-7 SMART
low complexity region 118 135 N/A INTRINSIC
low complexity region 143 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178522
AA Change: L370Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000136416
Gene: ENSMUSG00000009035
AA Change: L370Q

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: L377Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000229130
Predicted Effect probably benign
Transcript: ENSMUST00000231076
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G A 8: 25,296,517 (GRCm39) S310L probably damaging Het
Adamts16 C T 13: 70,946,157 (GRCm39) probably null Het
Arrb1 C A 7: 99,240,569 (GRCm39) D194E probably benign Het
Atp1a3 T C 7: 24,697,051 (GRCm39) D217G probably damaging Het
Bcar3 A G 3: 122,302,033 (GRCm39) I123V possibly damaging Het
Bdp1 G A 13: 100,180,321 (GRCm39) L1833F probably damaging Het
Cdc14a T C 3: 116,122,355 (GRCm39) Y155C probably damaging Het
Cdo1 C A 18: 46,853,380 (GRCm39) R126M possibly damaging Het
Cfap99 G T 5: 34,484,604 (GRCm39) R627L probably damaging Het
Efr3a T A 15: 65,720,030 (GRCm39) L369* probably null Het
Erich6 A C 3: 58,543,516 (GRCm39) F185V probably damaging Het
Fam186a T C 15: 99,853,374 (GRCm39) D122G unknown Het
Fank1 A G 7: 133,478,627 (GRCm39) I230M possibly damaging Het
Flg2 A T 3: 93,109,977 (GRCm39) E668D unknown Het
Flg2 A C 3: 93,110,256 (GRCm39) R761S unknown Het
Gabrr1 T C 4: 33,158,157 (GRCm39) L260P probably damaging Het
Gfm2 G A 13: 97,285,868 (GRCm39) R119K probably damaging Het
Gm14226 A G 2: 154,866,357 (GRCm39) T105A probably benign Het
Gm14496 A G 2: 181,637,997 (GRCm39) N357S probably damaging Het
Gm5916 G A 9: 36,039,935 (GRCm39) L18F probably benign Het
Golm1 A T 13: 59,790,058 (GRCm39) N247K probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Greb1 C T 12: 16,773,355 (GRCm39) A240T probably benign Het
Gtf3c6 T C 10: 40,125,774 (GRCm39) M148V probably benign Het
Guca1a T C 17: 47,706,102 (GRCm39) S126G probably benign Het
Hacl1 A T 14: 31,337,380 (GRCm39) I393N possibly damaging Het
Hddc3 A G 7: 79,993,498 (GRCm39) D68G possibly damaging Het
Hsfy2 T C 1: 56,675,569 (GRCm39) T323A possibly damaging Het
Kcng2 T C 18: 80,366,358 (GRCm39) probably benign Het
Kdm2a G T 19: 4,395,669 (GRCm39) P321T probably benign Het
Krt31 A G 11: 99,938,558 (GRCm39) V345A probably benign Het
Lrrc37 A T 11: 103,509,583 (GRCm39) L795* probably null Het
Mettl1 T C 10: 126,880,887 (GRCm39) S193P probably benign Het
Mme G A 3: 63,253,523 (GRCm39) D456N possibly damaging Het
Mmrn1 A G 6: 60,954,367 (GRCm39) T883A probably benign Het
Mphosph10 C G 7: 64,038,669 (GRCm39) E293Q probably benign Het
Muc16 C A 9: 18,557,193 (GRCm39) K3033N unknown Het
Myo16 C T 8: 10,619,496 (GRCm39) T1349M probably damaging Het
Myo5c T C 9: 75,157,746 (GRCm39) I233T probably benign Het
Or4p4b-ps1 A G 2: 88,454,189 (GRCm39) T181A unknown Het
Or52a33 T G 7: 103,289,065 (GRCm39) N94T probably benign Het
Or52ac1 A T 7: 104,246,018 (GRCm39) F123L probably benign Het
Or5b111 A T 19: 13,291,036 (GRCm39) S204R probably benign Het
Or5h22 A G 16: 58,894,555 (GRCm39) M296T probably benign Het
Or6c2 T A 10: 129,362,732 (GRCm39) V212E probably damaging Het
Or7c70 C A 10: 78,683,351 (GRCm39) V133L probably benign Het
Oxct2b A G 4: 123,011,480 (GRCm39) I467V probably benign Het
Parp1 A T 1: 180,414,936 (GRCm39) N425Y possibly damaging Het
Pcdhgc3 T A 18: 37,939,656 (GRCm39) V19D possibly damaging Het
Pfkl T A 10: 77,833,423 (GRCm39) I260F probably damaging Het
Pkd1l1 C T 11: 8,799,046 (GRCm39) G1789R probably damaging Het
Pla1a G A 16: 38,217,830 (GRCm39) A386V probably benign Het
Pml A G 9: 58,142,169 (GRCm39) L221P probably damaging Het
Rcn2 C T 9: 55,964,845 (GRCm39) Q268* probably null Het
Reps1 T A 10: 17,969,603 (GRCm39) D235E probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sap30bp A G 11: 115,824,314 (GRCm39) probably benign Het
Scn1a A T 2: 66,118,075 (GRCm39) S1433T probably damaging Het
Sde2 T C 1: 180,678,754 (GRCm39) V6A probably benign Het
Sdk1 C A 5: 142,197,769 (GRCm39) R2141S probably benign Het
Setd2 T C 9: 110,379,640 (GRCm39) S1152P probably damaging Het
Slc26a2 C T 18: 61,334,926 (GRCm39) V176I probably damaging Het
Snx7 A G 3: 117,640,281 (GRCm39) I76T possibly damaging Het
Specc1l C A 10: 75,082,113 (GRCm39) A520D probably benign Het
Spop A G 11: 95,362,136 (GRCm39) T56A possibly damaging Het
Syne2 T A 12: 76,074,786 (GRCm39) D4576E probably damaging Het
Tas2r134 A C 2: 51,517,601 (GRCm39) M27L probably benign Het
Tecta A C 9: 42,278,082 (GRCm39) I1142S probably benign Het
Timm44 T C 8: 4,316,611 (GRCm39) D311G possibly damaging Het
Tmem123 C G 9: 7,791,071 (GRCm39) T124R possibly damaging Het
Trim25 T A 11: 88,890,329 (GRCm39) N5K probably benign Het
Vmn2r93 A G 17: 18,524,903 (GRCm39) Y187C probably damaging Het
Vpreb1a A G 16: 16,686,678 (GRCm39) Y71H probably damaging Het
Vpreb1b T C 16: 17,798,441 (GRCm39) S5P probably benign Het
Xpo7 A T 14: 70,906,888 (GRCm39) C939S probably benign Het
Zfp78 C A 7: 6,381,764 (GRCm39) S271R probably benign Het
Zic5 A T 14: 122,702,080 (GRCm39) M217K 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
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'- TTCCTCTGGAAGTGATATGCGAG -3'
(R):5'- CTTTCATGTCCCAGGAGCAC -3'

Sequencing Primer
(F):5'- TTCTGGTCCAATAAATAAAAGGGCAG -3'
(R):5'- TCTGTCCCAGGAGTAGGGG -3'
Posted On 2019-05-13