Incidental Mutation 'R2277:Tmem45a'
ID242874
Institutional Source Beutler Lab
Gene Symbol Tmem45a
Ensembl Gene ENSMUSG00000022754
Gene Nametransmembrane protein 45a
Synonyms
MMRRC Submission 040276-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R2277 (G1)
Quality Score225
Status Not validated
Chromosome16
Chromosomal Location56805161-56886166 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56823519 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 89 (L89Q)
Ref Sequence ENSEMBL: ENSMUSP00000155931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023435] [ENSMUST00000135672] [ENSMUST00000232373]
Predicted Effect probably damaging
Transcript: ENSMUST00000023435
AA Change: L89Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023435
Gene: ENSMUSG00000022754
AA Change: L89Q

DomainStartEndE-ValueType
transmembrane domain 10 27 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
transmembrane domain 88 110 N/A INTRINSIC
Pfam:DUF716 119 239 8.9e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135672
Predicted Effect probably damaging
Transcript: ENSMUST00000232373
AA Change: L89Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d T C 19: 4,280,984 H165R probably benign Het
Arhgap21 T C 2: 20,863,226 I829V possibly damaging Het
Atxn1 T C 13: 45,557,068 N796S probably damaging Het
Bdp1 C A 13: 100,061,330 S849I probably benign Het
Bdp1 T A 13: 100,061,339 E846V probably damaging Het
Cdh4 C A 2: 179,797,524 H155N possibly damaging Het
Cela3a T C 4: 137,405,876 I62V possibly damaging Het
Cr2 T C 1: 195,157,368 R960G possibly damaging Het
Ddx42 T A 11: 106,242,939 D580E probably damaging Het
Dnah17 T C 11: 118,096,561 K1308E possibly damaging Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Gh T C 11: 106,300,787 E143G probably damaging Het
Hcn3 C A 3: 89,147,861 R693L probably benign Het
Hdlbp G A 1: 93,408,178 R1199* probably null Het
Hook2 C T 8: 85,002,931 Q667* probably null Het
Ibtk T C 9: 85,703,151 I1147V probably benign Het
Itpk1 T C 12: 102,570,260 T376A probably benign Het
Lars C T 18: 42,235,502 V425I probably benign Het
Lgi4 T G 7: 31,060,612 L78V probably damaging Het
Madd A T 2: 91,143,683 C1419S possibly damaging Het
Mamld1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA X: 71,118,815 probably benign Het
Mpp2 T C 11: 102,064,301 E166G probably damaging Het
Mrgprb5 A G 7: 48,168,831 L52P probably damaging Het
Nlrp2 T C 7: 5,328,129 T423A probably benign Het
Nphs1 T A 7: 30,467,564 L732* probably null Het
Pcdhb10 T C 18: 37,412,624 I251T possibly damaging Het
Plcg1 T A 2: 160,755,805 M789K possibly damaging Het
Pom121l2 T C 13: 21,984,247 I896T probably benign Het
Ptpn4 T C 1: 119,684,591 D24G probably damaging Het
Rbm28 T C 6: 29,135,514 probably null Het
Rbp3 C T 14: 33,956,018 T641M probably damaging Het
Rhebl1 A T 15: 98,878,286 D162E probably benign Het
Runx1t1 T C 4: 13,771,501 V15A probably benign Het
Serpina10 T A 12: 103,626,743 I291F probably benign Het
Slc23a2 A G 2: 132,091,259 I93T possibly damaging Het
Slc25a29 T C 12: 108,826,926 E242G probably benign Het
Sulf1 A C 1: 12,796,794 R67S probably benign Het
Syne2 A G 12: 75,927,466 E1146G possibly damaging Het
Top3a A C 11: 60,745,874 V655G possibly damaging Het
Ttc23l A G 15: 10,523,592 I347T possibly damaging Het
Other mutations in Tmem45a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Tmem45a APN 16 56811565 missense probably benign 0.01
IGL03189:Tmem45a APN 16 56811573 nonsense probably null
R1481:Tmem45a UTSW 16 56811602 missense possibly damaging 0.62
R1698:Tmem45a UTSW 16 56823570 missense probably benign 0.10
R1748:Tmem45a UTSW 16 56822338 missense possibly damaging 0.94
R1759:Tmem45a UTSW 16 56822402 missense probably benign
R1921:Tmem45a UTSW 16 56822302 missense probably benign 0.11
R2279:Tmem45a UTSW 16 56823519 missense probably damaging 1.00
R3899:Tmem45a UTSW 16 56806738 missense probably damaging 1.00
R4941:Tmem45a UTSW 16 56822289 missense possibly damaging 0.62
R5489:Tmem45a UTSW 16 56825711 unclassified probably null
R6914:Tmem45a UTSW 16 56825782 missense probably benign 0.00
R6942:Tmem45a UTSW 16 56825782 missense probably benign 0.00
R7064:Tmem45a UTSW 16 56822404 missense probably benign 0.00
R7197:Tmem45a UTSW 16 56811663 missense probably damaging 0.99
R7746:Tmem45a UTSW 16 56825737 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATAGCCCTGCCAATCAAGG -3'
(R):5'- AGGCATTTGACAGAAAGCTCAG -3'

Sequencing Primer
(F):5'- CTACATCAATGCACACTGATAGATAG -3'
(R):5'- CATTTGACAGAAAGCTCAGAAGGAG -3'
Posted On2014-10-16