Incidental Mutation 'R2183:Tmem130'
ID 237287
Institutional Source Beutler Lab
Gene Symbol Tmem130
Ensembl Gene ENSMUSG00000043388
Gene Name transmembrane protein 130
Synonyms
MMRRC Submission 040185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2183 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 144672725-144698388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144692242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 54 (D54G)
Ref Sequence ENSEMBL: ENSMUSP00000061100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061446]
AlphaFold Q6NXM3
Predicted Effect possibly damaging
Transcript: ENSMUST00000061446
AA Change: D54G

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061100
Gene: ENSMUSG00000043388
AA Change: D54G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PKD 140 226 6.04e-1 SMART
Blast:PKD 242 332 6e-22 BLAST
transmembrane domain 337 359 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197254
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 T C 15: 102,454,908 (GRCm39) T287A possibly damaging Het
Atg9b C T 5: 24,595,491 (GRCm39) A263T probably benign Het
Cc2d1a A T 8: 84,867,028 (GRCm39) H371Q probably damaging Het
Ccdc39 T C 3: 33,875,581 (GRCm39) N537S possibly damaging Het
Cdc6 A T 11: 98,799,524 (GRCm39) K17* probably null Het
Cemip2 G A 19: 21,801,157 (GRCm39) R758Q possibly damaging Het
Cenpk T C 13: 104,370,671 (GRCm39) M64T probably damaging Het
Dhx57 T A 17: 80,582,760 (GRCm39) T282S probably benign Het
Frem1 G A 4: 82,909,732 (GRCm39) T757I probably benign Het
Gcsh A T 8: 117,715,885 (GRCm39) V66E probably damaging Het
Gdpd1 T C 11: 86,926,102 (GRCm39) N281S probably damaging Het
Hs1bp3 T C 12: 8,371,610 (GRCm39) V97A possibly damaging Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Irag1 A T 7: 110,498,189 (GRCm39) L402Q probably damaging Het
Lama1 A G 17: 68,098,004 (GRCm39) N1795D probably damaging Het
Larp4 T C 15: 99,909,778 (GRCm39) V627A probably benign Het
Lrp8 T C 4: 107,660,462 (GRCm39) C41R probably damaging Het
Mroh2b T A 15: 4,947,707 (GRCm39) probably null Het
Nebl T C 2: 17,409,027 (GRCm39) D357G probably damaging Het
Nrg2 T C 18: 36,329,804 (GRCm39) K137R probably benign Het
Or14c43 T A 7: 86,115,594 (GRCm39) V325E probably benign Het
Or1j14 C T 2: 36,417,723 (GRCm39) Q100* probably null Het
Or5t7 A T 2: 86,507,380 (GRCm39) M99K probably benign Het
Phc1 C A 6: 122,300,284 (GRCm39) V487L probably damaging Het
Piezo2 A G 18: 63,239,345 (GRCm39) V745A probably damaging Het
Proca1 A T 11: 78,094,975 (GRCm39) H83L possibly damaging Het
Prpf4 G A 4: 62,330,046 (GRCm39) V107I probably damaging Het
Ptprz1 G A 6: 23,002,284 (GRCm39) R1458Q probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbsn C A 6: 92,166,618 (GRCm39) L675F probably benign Het
Recql5 T C 11: 115,787,613 (GRCm39) S514G probably benign Het
Scai G A 2: 38,970,138 (GRCm39) T542I probably benign Het
Sftpa1 G T 14: 40,854,823 (GRCm39) D73Y probably damaging Het
Sgms2 A C 3: 131,129,934 (GRCm39) probably null Het
Spart A G 3: 55,024,554 (GRCm39) I50V probably benign Het
Spata7 A T 12: 98,603,871 (GRCm39) K47N probably damaging Het
Tbx18 T A 9: 87,587,789 (GRCm39) T443S probably damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Trp53rkb G T 2: 166,635,877 (GRCm39) V73L possibly damaging Het
Wwc2 A T 8: 48,295,961 (GRCm39) L1103H unknown Het
Yes1 T A 5: 32,802,370 (GRCm39) V95E probably damaging Het
Zfp971 T A 2: 177,675,533 (GRCm39) H377Q probably damaging Het
Zzef1 C T 11: 72,777,544 (GRCm39) R1792* probably null Het
Other mutations in Tmem130
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Tmem130 APN 5 144,689,255 (GRCm39) missense probably damaging 0.99
IGL02808:Tmem130 APN 5 144,680,433 (GRCm39) missense probably damaging 1.00
R0599:Tmem130 UTSW 5 144,674,619 (GRCm39) missense probably damaging 1.00
R0714:Tmem130 UTSW 5 144,674,619 (GRCm39) missense probably damaging 1.00
R1807:Tmem130 UTSW 5 144,692,174 (GRCm39) missense probably benign 0.04
R1858:Tmem130 UTSW 5 144,689,093 (GRCm39) splice site probably null
R1914:Tmem130 UTSW 5 144,674,666 (GRCm39) missense probably damaging 1.00
R1915:Tmem130 UTSW 5 144,674,666 (GRCm39) missense probably damaging 1.00
R2031:Tmem130 UTSW 5 144,689,236 (GRCm39) missense possibly damaging 0.88
R2074:Tmem130 UTSW 5 144,692,084 (GRCm39) missense possibly damaging 0.86
R2145:Tmem130 UTSW 5 144,680,595 (GRCm39) missense probably benign 0.08
R3971:Tmem130 UTSW 5 144,692,131 (GRCm39) missense probably benign 0.04
R5092:Tmem130 UTSW 5 144,680,528 (GRCm39) missense probably benign 0.04
R5743:Tmem130 UTSW 5 144,687,749 (GRCm39) missense probably damaging 0.99
R6151:Tmem130 UTSW 5 144,674,661 (GRCm39) missense probably benign 0.41
R6499:Tmem130 UTSW 5 144,689,224 (GRCm39) missense probably damaging 1.00
R7124:Tmem130 UTSW 5 144,687,721 (GRCm39) missense probably damaging 0.97
R7798:Tmem130 UTSW 5 144,680,580 (GRCm39) missense probably damaging 1.00
R7984:Tmem130 UTSW 5 144,692,237 (GRCm39) missense possibly damaging 0.71
R9131:Tmem130 UTSW 5 144,680,529 (GRCm39) missense
R9680:Tmem130 UTSW 5 144,674,233 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGTGCTCCTGGCTAATGG -3'
(R):5'- AAACACTTGTGGCTGTGGTGAC -3'

Sequencing Primer
(F):5'- TGGCTAATGGCTGGCACAC -3'
(R):5'- TGGCTGTGGTGACTGAAAGAC -3'
Posted On 2014-10-02