Incidental Mutation 'R8209:Tmem150b'
ID 636061
Institutional Source Beutler Lab
Gene Symbol Tmem150b
Ensembl Gene ENSMUSG00000046456
Gene Name transmembrane protein 150B
Synonyms Tmem224
MMRRC Submission 067632-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R8209 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 4709831-4728248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4723691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 162 (L162P)
Ref Sequence ENSEMBL: ENSMUSP00000083549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048248] [ENSMUST00000086363] [ENSMUST00000086364] [ENSMUST00000120836]
AlphaFold Q8R218
Predicted Effect probably benign
Transcript: ENSMUST00000048248
SMART Domains Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
low complexity region 13 30 N/A INTRINSIC
S_TKc 34 285 6.75e-103 SMART
low complexity region 330 344 N/A INTRINSIC
low complexity region 430 457 N/A INTRINSIC
low complexity region 492 517 N/A INTRINSIC
low complexity region 523 552 N/A INTRINSIC
low complexity region 668 686 N/A INTRINSIC
low complexity region 746 764 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000086363
AA Change: L162P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083549
Gene: ENSMUSG00000046456
AA Change: L162P

DomainStartEndE-ValueType
Pfam:Frag1 4 207 7.1e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086364
SMART Domains Protein: ENSMUSP00000083550
Gene: ENSMUSG00000046456

DomainStartEndE-ValueType
Pfam:Frag1 4 114 1.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120836
SMART Domains Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390

DomainStartEndE-ValueType
S_TKc 1 210 1.19e-71 SMART
low complexity region 255 269 N/A INTRINSIC
low complexity region 355 382 N/A INTRINSIC
low complexity region 417 442 N/A INTRINSIC
low complexity region 448 477 N/A INTRINSIC
low complexity region 593 611 N/A INTRINSIC
low complexity region 671 689 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,094,195 (GRCm39) N27S probably damaging Het
Akr1b1 G C 6: 34,288,867 (GRCm39) T114R probably damaging Het
Alx4 T C 2: 93,505,696 (GRCm39) M266T possibly damaging Het
Arhgap21 C T 2: 20,876,556 (GRCm39) D820N probably damaging Het
Clec4a1 A G 6: 122,907,773 (GRCm39) S154G probably damaging Het
Col11a2 T C 17: 34,266,253 (GRCm39) probably null Het
Dnaaf2 A T 12: 69,244,866 (GRCm39) V65E probably damaging Het
Dnah14 A G 1: 181,623,110 (GRCm39) E3996G possibly damaging Het
Dsg1b A G 18: 20,541,947 (GRCm39) Y818C probably benign Het
Dzip3 C T 16: 48,798,307 (GRCm39) G133S probably damaging Het
Efcab6 T C 15: 83,788,456 (GRCm39) Y946C probably benign Het
Eprs1 A G 1: 185,139,812 (GRCm39) E967G possibly damaging Het
F5 T C 1: 164,021,959 (GRCm39) V1478A probably benign Het
Fchsd2 C T 7: 100,931,679 (GRCm39) P745L probably damaging Het
Gart T C 16: 91,425,041 (GRCm39) I661V possibly damaging Het
Gm14295 T A 2: 176,502,970 (GRCm39) I820K unknown Het
Grb10 G T 11: 11,901,533 (GRCm39) L214M probably damaging Het
Gria2 A G 3: 80,616,764 (GRCm39) V396A probably benign Het
Il17rc C A 6: 113,449,771 (GRCm39) Q126K probably benign Het
Ipo8 A G 6: 148,698,176 (GRCm39) I615T possibly damaging Het
Irak4 T A 15: 94,456,244 (GRCm39) L277Q probably damaging Het
Islr T C 9: 58,065,340 (GRCm39) S56G probably damaging Het
Krt78 A T 15: 101,855,480 (GRCm39) M777K possibly damaging Het
Lrch4 A G 5: 137,637,997 (GRCm39) H93R Het
Muc21 T C 17: 35,930,599 (GRCm39) probably benign Het
Nbeal1 A T 1: 60,316,336 (GRCm39) K1846N probably damaging Het
Nedd1 T A 10: 92,527,797 (GRCm39) M466L probably benign Het
Nup107 T C 10: 117,593,836 (GRCm39) K786E probably benign Het
Or51f23b T C 7: 102,402,950 (GRCm39) Y62C probably benign Het
Or5ak25 T A 2: 85,268,981 (GRCm39) I174F probably damaging Het
Or5m12 T C 2: 85,734,547 (GRCm39) I284V probably benign Het
Phc2 T C 4: 128,603,299 (GRCm39) L143P probably benign Het
Pkhd1l1 A G 15: 44,437,803 (GRCm39) N3533D possibly damaging Het
Plpp1 A T 13: 113,003,465 (GRCm39) T230S probably benign Het
Prokr2 C A 2: 132,215,961 (GRCm39) A167S probably damaging Het
Qser1 C T 2: 104,619,070 (GRCm39) A491T probably benign Het
Rc3h2 T A 2: 37,267,001 (GRCm39) Y1040F possibly damaging Het
Rgl2 C T 17: 34,151,501 (GRCm39) L182F possibly damaging Het
Rnf130 T C 11: 49,962,097 (GRCm39) V181A probably benign Het
Scn7a T G 2: 66,531,204 (GRCm39) I558L possibly damaging Het
Shtn1 T C 19: 58,992,328 (GRCm39) I417V possibly damaging Het
Slco1a5 T G 6: 142,208,408 (GRCm39) N128H probably damaging Het
Smg5 C T 3: 88,258,838 (GRCm39) A603V probably benign Het
Svs3b T A 2: 164,098,140 (GRCm39) E60D possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Timm44 A T 8: 4,316,844 (GRCm39) M263K probably benign Het
Tmprss11f A G 5: 86,687,566 (GRCm39) V114A probably damaging Het
Trak1 C T 9: 121,280,793 (GRCm39) T394I probably benign Het
Tram2 A C 1: 21,075,801 (GRCm39) Y206D probably damaging Het
Trhde C T 10: 114,403,133 (GRCm39) V497M probably damaging Het
Trpc2 A G 7: 101,737,482 (GRCm39) M425V possibly damaging Het
Tuba1b C T 15: 98,829,591 (GRCm39) G410S probably benign Het
Vmn2r1 A G 3: 63,997,199 (GRCm39) D285G possibly damaging Het
Zfp536 A T 7: 37,268,080 (GRCm39) S445R probably benign Het
Zfp606 A T 7: 12,227,234 (GRCm39) T452S probably benign Het
Other mutations in Tmem150b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Tmem150b APN 7 4,726,896 (GRCm39) missense probably benign 0.01
R1769:Tmem150b UTSW 7 4,727,365 (GRCm39) missense probably damaging 1.00
R1888:Tmem150b UTSW 7 4,712,044 (GRCm39) missense probably benign 0.31
R1888:Tmem150b UTSW 7 4,712,044 (GRCm39) missense probably benign 0.31
R2197:Tmem150b UTSW 7 4,719,353 (GRCm39) missense probably benign 0.07
R3408:Tmem150b UTSW 7 4,727,339 (GRCm39) missense probably damaging 1.00
R3872:Tmem150b UTSW 7 4,727,360 (GRCm39) nonsense probably null
R4820:Tmem150b UTSW 7 4,726,871 (GRCm39) missense probably damaging 1.00
R5412:Tmem150b UTSW 7 4,719,368 (GRCm39) missense probably null 0.54
R6280:Tmem150b UTSW 7 4,727,373 (GRCm39) missense probably benign 0.00
R7427:Tmem150b UTSW 7 4,719,209 (GRCm39) missense probably benign 0.29
R7658:Tmem150b UTSW 7 4,723,758 (GRCm39) missense probably benign 0.00
R8015:Tmem150b UTSW 7 4,719,327 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- AGTCAGTCCTGTCCACTACAC -3'
(R):5'- AACTATTCCACCGGTCCTGG -3'

Sequencing Primer
(F):5'- GGATTACAAGCTTGTGCCAC -3'
(R):5'- CCTGGGTTTTGCACTTGAAAC -3'
Posted On 2020-07-13