Incidental Mutation 'R4474:Tmem150a'
ID 500640
Institutional Source Beutler Lab
Gene Symbol Tmem150a
Ensembl Gene ENSMUSG00000055912
Gene Name transmembrane protein 150A
Synonyms Tmem150
MMRRC Submission 041731-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.535) question?
Stock # R4474 (G1)
Quality Score 220
Status Not validated
Chromosome 6
Chromosomal Location 72332466-72336745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72334035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 39 (S39F)
Ref Sequence ENSEMBL: ENSMUSP00000138445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069580] [ENSMUST00000069595] [ENSMUST00000069695] [ENSMUST00000077783] [ENSMUST00000114095] [ENSMUST00000132243] [ENSMUST00000206064] [ENSMUST00000154098] [ENSMUST00000130064] [ENSMUST00000151063] [ENSMUST00000149296] [ENSMUST00000206531]
AlphaFold Q91WN2
Predicted Effect probably benign
Transcript: ENSMUST00000069580
SMART Domains Protein: ENSMUSP00000066128
Gene: ENSMUSG00000055850

DomainStartEndE-ValueType
RING 88 128 5.51e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069595
SMART Domains Protein: ENSMUSP00000070370
Gene: ENSMUSG00000055850

DomainStartEndE-ValueType
RING 20 60 5.51e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069695
AA Change: S39F

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000063977
Gene: ENSMUSG00000055912
AA Change: S39F

DomainStartEndE-ValueType
Pfam:Frag1 3 232 3.8e-63 PFAM
low complexity region 251 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077783
SMART Domains Protein: ENSMUSP00000076957
Gene: ENSMUSG00000058706

DomainStartEndE-ValueType
Pfam:UPF0561 1 126 4.4e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114095
SMART Domains Protein: ENSMUSP00000109729
Gene: ENSMUSG00000055850

DomainStartEndE-ValueType
RING 88 155 2.82e-4 SMART
low complexity region 185 196 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125554
Predicted Effect probably benign
Transcript: ENSMUST00000132243
AA Change: S39F

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138445
Gene: ENSMUSG00000055912
AA Change: S39F

DomainStartEndE-ValueType
Pfam:Frag1 3 69 7.2e-12 PFAM
low complexity region 139 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206064
AA Change: S39F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205399
Predicted Effect probably benign
Transcript: ENSMUST00000154098
SMART Domains Protein: ENSMUSP00000138327
Gene: ENSMUSG00000055850

DomainStartEndE-ValueType
RING 41 81 5.51e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130064
SMART Domains Protein: ENSMUSP00000115187
Gene: ENSMUSG00000055850

DomainStartEndE-ValueType
RING 32 72 5.51e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133978
Predicted Effect probably benign
Transcript: ENSMUST00000126065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136707
Predicted Effect probably benign
Transcript: ENSMUST00000149296
Predicted Effect probably benign
Transcript: ENSMUST00000129233
Predicted Effect probably benign
Transcript: ENSMUST00000206531
AA Change: S23F

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206821
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 95% (36/38)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,124,598 (GRCm39) I397K possibly damaging Het
Alpk1 T C 3: 127,473,667 (GRCm39) T779A probably damaging Het
Cdh23 G T 10: 60,146,865 (GRCm39) A2795D probably damaging Het
Cdk19 G A 10: 40,345,952 (GRCm39) probably null Het
Cep104 T A 4: 154,073,693 (GRCm39) M476K possibly damaging Het
Csf1 T C 3: 107,661,172 (GRCm39) D115G probably damaging Het
Dclre1b C A 3: 103,714,559 (GRCm39) probably benign Het
Fbp1 A G 13: 63,023,075 (GRCm39) L74P probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hydin G T 8: 111,290,497 (GRCm39) V3319L probably benign Het
Kcna4 A G 2: 107,126,352 (GRCm39) N362S probably benign Het
Kif13a C T 13: 46,967,631 (GRCm39) probably null Het
Lingo2 T C 4: 35,708,810 (GRCm39) E390G probably benign Het
Mdh1 T G 11: 21,516,624 (GRCm39) D33A possibly damaging Het
Mov10 C T 3: 104,725,781 (GRCm39) G21D probably damaging Het
Muc21 G T 17: 35,931,496 (GRCm39) probably benign Het
Or4f56 G A 2: 111,703,784 (GRCm39) R139W possibly damaging Het
Or7g32 T A 9: 19,408,173 (GRCm39) L43Q probably damaging Het
Parn A G 16: 13,482,549 (GRCm39) S100P probably benign Het
Pik3c2g T A 6: 139,610,749 (GRCm39) Y332N probably damaging Het
Rab22a C T 2: 173,537,056 (GRCm39) T85M probably damaging Het
Rims2 A G 15: 39,325,956 (GRCm39) S763G probably damaging Het
Sarm1 T A 11: 78,387,927 (GRCm39) I120L probably benign Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Snx31 A G 15: 36,546,256 (GRCm39) probably benign Het
Tsc2 T A 17: 24,816,238 (GRCm39) H1605L probably damaging Het
Ugt1a10 TAAAAAAAAA TAAAAAAA 1: 88,143,650 (GRCm39) probably benign Het
Vmn2r95 T C 17: 18,672,507 (GRCm39) L820P probably damaging Het
Zfp36l3 T C X: 52,777,924 (GRCm39) N97D possibly damaging Het
Other mutations in Tmem150a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Tmem150a APN 6 72,334,101 (GRCm39) missense probably damaging 0.96
R0070:Tmem150a UTSW 6 72,335,742 (GRCm39) splice site probably null
R0070:Tmem150a UTSW 6 72,335,742 (GRCm39) splice site probably null
R6170:Tmem150a UTSW 6 72,333,728 (GRCm39) missense probably benign 0.03
R7506:Tmem150a UTSW 6 72,333,753 (GRCm39) critical splice donor site probably null
R7723:Tmem150a UTSW 6 72,336,057 (GRCm39) missense probably damaging 0.96
R7751:Tmem150a UTSW 6 72,336,028 (GRCm39) missense probably damaging 1.00
R7783:Tmem150a UTSW 6 72,335,606 (GRCm39) missense unknown
R8078:Tmem150a UTSW 6 72,335,306 (GRCm39) missense probably damaging 0.98
R9197:Tmem150a UTSW 6 72,333,722 (GRCm39) missense probably benign 0.45
R9579:Tmem150a UTSW 6 72,334,070 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCATGACATCCTGTTCATCTGC -3'
(R):5'- GGATGCCCAGCTCCTAGAAATAG -3'

Sequencing Primer
(F):5'- ACATCCTGTTCATCTGCCCACTTC -3'
(R):5'- ACTGCTTTCCAAGAGCTAGG -3'
Posted On 2017-12-01