Incidental Mutation 'R7124:Tmem130'
ID552197
Institutional Source Beutler Lab
Gene Symbol Tmem130
Ensembl Gene ENSMUSG00000043388
Gene Nametransmembrane protein 130
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #R7124 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location144735915-144761818 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 144750911 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 205 (V205A)
Ref Sequence ENSEMBL: ENSMUSP00000061100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061446]
Predicted Effect probably damaging
Transcript: ENSMUST00000061446
AA Change: V205A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061100
Gene: ENSMUSG00000043388
AA Change: V205A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A C 3: 124,414,393 S212R probably benign Het
4930562C15Rik T C 16: 4,864,332 S170P probably benign Het
9330182O14Rik G A 15: 40,144,907 C59Y unknown Het
AA986860 A G 1: 130,742,887 E282G possibly damaging Het
Adam1a G T 5: 121,519,334 T632K probably benign Het
Aspg G T 12: 112,122,983 A402S probably damaging Het
Capn7 C T 14: 31,336,685 probably benign Het
Card9 C T 2: 26,356,884 probably null Het
Cdh13 T C 8: 118,968,173 V254A probably damaging Het
Colec10 T C 15: 54,462,371 V199A probably damaging Het
Copb2 T C 9: 98,577,053 S283P probably damaging Het
Csmd1 G T 8: 15,903,202 S3426R probably damaging Het
Cyp4f14 A G 17: 32,914,588 V98A probably benign Het
Disp1 C A 1: 183,087,466 R1130L probably damaging Het
Dysf A G 6: 84,190,901 probably null Het
Eif4ebp1 T C 8: 27,273,419 V80A probably damaging Het
Eloa T A 4: 136,009,141 I565F probably damaging Het
Espn G T 4: 152,131,264 H513N probably benign Het
Fam83c C T 2: 155,829,571 S648N probably benign Het
Fdxr C T 11: 115,269,577 V351M probably benign Het
Fras1 A T 5: 96,714,401 D2213V probably damaging Het
Gbp4 T A 5: 105,119,959 I474F possibly damaging Het
Gm11639 T C 11: 104,738,274 F926S probably benign Het
Golgb1 T C 16: 36,913,673 V1135A probably benign Het
Gpt2 G A 8: 85,518,052 E325K probably benign Het
Hipk2 A T 6: 38,818,478 Y285* probably null Het
Ifi27l2b T C 12: 103,451,320 I203V probably damaging Het
Itga10 T A 3: 96,651,765 M390K probably damaging Het
Itgb8 G T 12: 119,202,424 S124* probably null Het
Klhdc10 T A 6: 30,441,827 F173I probably damaging Het
Kng2 T G 16: 23,012,055 N168T probably damaging Het
Krtap24-1 T C 16: 88,611,546 T231A probably damaging Het
Lbx2 A T 6: 83,088,064 D194V probably damaging Het
Lrrc39 C A 3: 116,565,913 Q36K probably benign Het
Madd T C 2: 91,162,048 E1093G possibly damaging Het
Mfap3l A G 8: 60,671,269 T182A probably damaging Het
Myo9b T A 8: 71,333,701 Y670* probably null Het
Nbea A G 3: 55,992,444 L1428P probably damaging Het
Nkx2-3 T C 19: 43,614,806 Y284H possibly damaging Het
Nphp4 A G 4: 152,555,684 D1009G probably benign Het
Npy2r G A 3: 82,541,183 A95V probably damaging Het
Nuggc A G 14: 65,608,802 E70G probably damaging Het
Olfr1020 T C 2: 85,849,910 S153P probably benign Het
Olfr1028 T A 2: 85,951,473 S137T possibly damaging Het
Palld A T 8: 61,516,645 V1215D unknown Het
Pard6g T C 18: 80,117,125 I151T possibly damaging Het
Parp12 T C 6: 39,111,736 I189V probably benign Het
Parp4 A G 14: 56,602,799 I554V probably benign Het
Pcnx2 G A 8: 125,753,617 P1984S probably damaging Het
Piwil4 T C 9: 14,736,900 M128V probably benign Het
Polr2a C A 11: 69,737,462 E1302* probably null Het
Psg17 C A 7: 18,814,496 G450V probably damaging Het
Psg17 C G 7: 18,814,497 G450R probably damaging Het
Rag1 T C 2: 101,643,783 E338G probably damaging Het
Rev3l A T 10: 39,822,167 K887* probably null Het
Rragd T C 4: 32,996,027 F124S possibly damaging Het
Scube1 A T 15: 83,629,511 probably null Het
Sfpq A T 4: 127,025,932 D490V possibly damaging Het
Smc1b G T 15: 85,071,597 Q1034K probably damaging Het
Smg7 T C 1: 152,878,080 N5S probably benign Het
Spata31d1a A C 13: 59,702,487 L609R probably damaging Het
Ssh2 A G 11: 77,454,338 K1050E probably benign Het
Stab1 G A 14: 31,160,867 T393I possibly damaging Het
Sult2a4 C T 7: 13,988,395 W49* probably null Het
Thrap3 A T 4: 126,180,438 S172T unknown Het
Ube2d2b A G 5: 107,830,851 I123V probably benign Het
Unc79 G T 12: 103,061,393 L414F probably damaging Het
Vmn2r30 C T 7: 7,334,184 S151N probably benign Het
Vmn2r54 T A 7: 12,622,151 T443S probably benign Het
Zfp229 T A 17: 21,742,616 S51T probably damaging Het
Zfp617 T C 8: 71,932,540 L238P probably damaging Het
Zfp707 T A 15: 75,973,549 C87* probably null Het
Zfp853 T C 5: 143,289,607 K101R unknown Het
Other mutations in Tmem130
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Tmem130 APN 5 144752445 missense probably damaging 0.99
IGL02808:Tmem130 APN 5 144743623 missense probably damaging 1.00
R0599:Tmem130 UTSW 5 144737809 missense probably damaging 1.00
R0714:Tmem130 UTSW 5 144737809 missense probably damaging 1.00
R1807:Tmem130 UTSW 5 144755364 missense probably benign 0.04
R1858:Tmem130 UTSW 5 144752283 splice site probably null
R1914:Tmem130 UTSW 5 144737856 missense probably damaging 1.00
R1915:Tmem130 UTSW 5 144737856 missense probably damaging 1.00
R2031:Tmem130 UTSW 5 144752426 missense possibly damaging 0.88
R2074:Tmem130 UTSW 5 144755274 missense possibly damaging 0.86
R2145:Tmem130 UTSW 5 144743785 missense probably benign 0.08
R2183:Tmem130 UTSW 5 144755432 missense possibly damaging 0.87
R3971:Tmem130 UTSW 5 144755321 missense probably benign 0.04
R5092:Tmem130 UTSW 5 144743718 missense probably benign 0.04
R5743:Tmem130 UTSW 5 144750939 missense probably damaging 0.99
R6151:Tmem130 UTSW 5 144737851 missense probably benign 0.41
R6499:Tmem130 UTSW 5 144752414 missense probably damaging 1.00
R7798:Tmem130 UTSW 5 144743770 missense probably damaging 1.00
R7984:Tmem130 UTSW 5 144755427 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GATGCTAGCCTGGAGTCAC -3'
(R):5'- CTGACACATTCATGTTTAAGAGCTATG -3'

Sequencing Primer
(F):5'- CTGGAGTCACCTGGATCTGGAAG -3'
(R):5'- CTGGGAATTGAACTCAGGACCTCTG -3'
Posted On2019-05-15