Incidental Mutation 'R0070:Tmem147'
ID 17029
Institutional Source Beutler Lab
Gene Symbol Tmem147
Ensembl Gene ENSMUSG00000006315
Gene Name transmembrane protein 147
Synonyms 2010004E11Rik, 5033425B17Rik
MMRRC Submission 038361-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.921) question?
Stock # R0070 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 30427126-30428959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30427526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 97 (Y97C)
Ref Sequence ENSEMBL: ENSMUSP00000146918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000006478] [ENSMUST00000074758] [ENSMUST00000170371] [ENSMUST00000209065] [ENSMUST00000207296] [ENSMUST00000208169] [ENSMUST00000207263] [ENSMUST00000207779] [ENSMUST00000182067] [ENSMUST00000182634]
AlphaFold Q9CQG6
Predicted Effect probably benign
Transcript: ENSMUST00000005692
SMART Domains Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553

DomainStartEndE-ValueType
Pfam:H-K_ATPase_N 2 42 5.4e-23 PFAM
Cation_ATPase_N 52 126 2.26e-18 SMART
Pfam:E1-E2_ATPase 144 375 1.1e-57 PFAM
Pfam:Hydrolase 380 739 5.3e-16 PFAM
Pfam:HAD 383 736 1.9e-18 PFAM
Pfam:Cation_ATPase 436 531 1.6e-24 PFAM
Pfam:Cation_ATPase_C 809 1019 4.8e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000006478
AA Change: Y146C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315
AA Change: Y146C

DomainStartEndE-ValueType
Pfam:DUF2053 2 158 3.1e-69 PFAM
transmembrane domain 168 190 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074758
SMART Domains Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
Gp_dh_N 106 254 6.13e-79 SMART
Pfam:Gp_dh_C 259 416 2.3e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165410
Predicted Effect probably benign
Transcript: ENSMUST00000170371
SMART Domains Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553

DomainStartEndE-ValueType
Pfam:H-K_ATPase_N 2 42 4.9e-28 PFAM
Cation_ATPase_N 52 126 2.26e-18 SMART
Pfam:E1-E2_ATPase 145 376 1e-62 PFAM
Pfam:Hydrolase 380 730 9.3e-25 PFAM
Pfam:HAD 383 727 2.1e-15 PFAM
Pfam:Hydrolase_like2 436 531 4e-25 PFAM
Pfam:Cation_ATPase_C 800 1010 1.5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180820
SMART Domains Protein: ENSMUSP00000137757
Gene: ENSMUSG00000097320

DomainStartEndE-ValueType
SCOP:d1i7oa2 53 93 5e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209065
AA Change: Y97C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000207296
AA Change: Y153C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000208169
AA Change: Y72C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000207263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207955
Predicted Effect probably benign
Transcript: ENSMUST00000207779
Predicted Effect probably benign
Transcript: ENSMUST00000182067
SMART Domains Protein: ENSMUSP00000138697
Gene: ENSMUSG00000061099

DomainStartEndE-ValueType
PDB:2VYV|D 1 44 3e-15 PDB
Blast:Gp_dh_N 4 33 9e-7 BLAST
SCOP:d1cf2o2 9 45 3e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182634
SMART Domains Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099

DomainStartEndE-ValueType
low complexity region 21 48 N/A INTRINSIC
Gp_dh_N 108 256 6.13e-79 SMART
Pfam:Gp_dh_C 261 418 4.4e-77 PFAM
Meta Mutation Damage Score 0.5691 question?
Coding Region Coverage
  • 1x: 88.0%
  • 3x: 83.9%
  • 10x: 69.3%
  • 20x: 41.9%
Validation Efficiency 88% (67/76)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,109,154 (GRCm39) I387T probably damaging Het
Ankfn1 A T 11: 89,283,128 (GRCm39) L173Q probably damaging Het
Atp2a1 T C 7: 126,046,624 (GRCm39) E892G probably benign Het
AU018091 T C 7: 3,208,738 (GRCm39) probably null Het
Capn12 T C 7: 28,588,551 (GRCm39) probably benign Het
Capn2 C A 1: 182,301,434 (GRCm39) probably benign Het
Cd79b A G 11: 106,202,744 (GRCm39) probably benign Het
Cdh20 C T 1: 110,026,102 (GRCm39) A446V probably benign Het
Ciapin1 T C 8: 95,551,847 (GRCm39) N246S possibly damaging Het
Flt3 A G 5: 147,309,536 (GRCm39) probably benign Het
Gm2027 T A 12: 44,269,145 (GRCm39) probably benign Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hycc1 T C 5: 24,169,997 (GRCm39) S451G probably damaging Het
Hykk T A 9: 54,829,632 (GRCm39) probably benign Het
Kansl1l T C 1: 66,840,262 (GRCm39) D346G probably damaging Het
Kcnt1 T C 2: 25,782,374 (GRCm39) V191A probably benign Het
Lcorl G A 5: 45,891,043 (GRCm39) R437C probably damaging Het
Mtch1 T A 17: 29,559,033 (GRCm39) probably benign Het
Myo1c A G 11: 75,551,076 (GRCm39) N217S probably benign Het
Nav2 A G 7: 49,220,462 (GRCm39) E1669G probably damaging Het
Or2h15 A G 17: 38,441,780 (GRCm39) L101P probably damaging Het
Or2w4 T C 13: 21,795,431 (GRCm39) K236R possibly damaging Het
Or5p51 T G 7: 107,444,124 (GRCm39) D272A probably damaging Het
Phf20l1 T G 15: 66,511,840 (GRCm39) W940G probably damaging Het
Pi4k2b A C 5: 52,914,260 (GRCm39) D309A probably damaging Het
Pkd2 T C 5: 104,614,856 (GRCm39) C233R probably damaging Het
Prkd3 A G 17: 79,261,939 (GRCm39) Y792H probably damaging Het
Pxdn T C 12: 30,032,726 (GRCm39) L146S probably damaging Het
Serpinh1 A T 7: 98,998,521 (GRCm39) S36R probably damaging Het
Setx A T 2: 29,051,537 (GRCm39) T2030S probably benign Het
Sin3b T A 8: 73,452,210 (GRCm39) H105Q probably damaging Het
Slx4 A T 16: 3,805,880 (GRCm39) D557E possibly damaging Het
Stag1 C T 9: 100,838,461 (GRCm39) P1238S probably null Het
Stra6 C T 9: 58,059,898 (GRCm39) probably benign Het
Taok1 T A 11: 77,444,543 (GRCm39) M511L probably benign Het
Tmem127 T C 2: 127,098,979 (GRCm39) V171A probably damaging Het
Tmem150a A G 6: 72,335,742 (GRCm39) probably null Het
Top2a C G 11: 98,905,886 (GRCm39) probably null Het
Zc3hav1l A T 6: 38,272,125 (GRCm39) S215T probably damaging Het
Zscan20 C T 4: 128,479,675 (GRCm39) V939I possibly damaging Het
Other mutations in Tmem147
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Tmem147 APN 7 30,427,858 (GRCm39) nonsense probably null
IGL02491:Tmem147 APN 7 30,427,626 (GRCm39) splice site probably benign
IGL02971:Tmem147 APN 7 30,428,847 (GRCm39) unclassified probably benign
R0609:Tmem147 UTSW 7 30,427,527 (GRCm39) missense probably benign 0.03
R1167:Tmem147 UTSW 7 30,427,221 (GRCm39) missense probably benign 0.33
R1254:Tmem147 UTSW 7 30,428,795 (GRCm39) nonsense probably null
R5983:Tmem147 UTSW 7 30,427,484 (GRCm39) missense probably damaging 1.00
R6072:Tmem147 UTSW 7 30,427,445 (GRCm39) missense possibly damaging 0.56
R7636:Tmem147 UTSW 7 30,427,726 (GRCm39) splice site probably null
R7705:Tmem147 UTSW 7 30,427,716 (GRCm39) critical splice acceptor site probably null
R8042:Tmem147 UTSW 7 30,427,978 (GRCm39) missense probably damaging 0.97
R8132:Tmem147 UTSW 7 30,427,872 (GRCm39) missense probably damaging 0.99
R8477:Tmem147 UTSW 7 30,427,656 (GRCm39) missense probably benign 0.00
Posted On 2013-01-20