Incidental Mutation 'R0499:Tmem131'
ID 46978
Institutional Source Beutler Lab
Gene Symbol Tmem131
Ensembl Gene ENSMUSG00000026116
Gene Name transmembrane protein 131
Synonyms Rw1, CC28, YR-23, Neg, D1Bwg0491e, 2610524E03Rik
MMRRC Submission 038695-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R0499 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36831270-36978714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36880754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 172 (V172D)
Ref Sequence ENSEMBL: ENSMUSP00000142307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027290] [ENSMUST00000185964] [ENSMUST00000194563]
AlphaFold O70472
Predicted Effect probably damaging
Transcript: ENSMUST00000027290
AA Change: V172D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: V172D

DomainStartEndE-ValueType
low complexity region 5 44 N/A INTRINSIC
low complexity region 77 89 N/A INTRINSIC
Pfam:TMEM131_like 106 189 1.7e-32 PFAM
transmembrane domain 1081 1103 N/A INTRINSIC
transmembrane domain 1116 1138 N/A INTRINSIC
low complexity region 1232 1258 N/A INTRINSIC
low complexity region 1283 1315 N/A INTRINSIC
low complexity region 1369 1382 N/A INTRINSIC
low complexity region 1384 1433 N/A INTRINSIC
low complexity region 1460 1471 N/A INTRINSIC
low complexity region 1595 1610 N/A INTRINSIC
low complexity region 1613 1626 N/A INTRINSIC
low complexity region 1628 1646 N/A INTRINSIC
low complexity region 1675 1684 N/A INTRINSIC
low complexity region 1693 1701 N/A INTRINSIC
low complexity region 1738 1748 N/A INTRINSIC
low complexity region 1760 1779 N/A INTRINSIC
low complexity region 1799 1810 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000185964
AA Change: V61D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000194563
AA Change: V172D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: V172D

DomainStartEndE-ValueType
low complexity region 5 44 N/A INTRINSIC
low complexity region 77 89 N/A INTRINSIC
Pfam:DUF3651 170 243 1.9e-27 PFAM
Pfam:DUF3651 500 580 4.5e-16 PFAM
Pfam:DUF3651 631 706 5.2e-15 PFAM
transmembrane domain 1081 1103 N/A INTRINSIC
transmembrane domain 1116 1138 N/A INTRINSIC
low complexity region 1232 1258 N/A INTRINSIC
low complexity region 1283 1315 N/A INTRINSIC
low complexity region 1369 1382 N/A INTRINSIC
low complexity region 1384 1433 N/A INTRINSIC
low complexity region 1460 1471 N/A INTRINSIC
low complexity region 1595 1610 N/A INTRINSIC
low complexity region 1613 1626 N/A INTRINSIC
low complexity region 1628 1646 N/A INTRINSIC
low complexity region 1675 1684 N/A INTRINSIC
low complexity region 1693 1701 N/A INTRINSIC
low complexity region 1738 1748 N/A INTRINSIC
low complexity region 1760 1779 N/A INTRINSIC
low complexity region 1799 1810 N/A INTRINSIC
Meta Mutation Damage Score 0.4449 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 99% (97/98)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adap2 A T 11: 80,066,905 (GRCm39) R276S probably damaging Het
Agbl3 A T 6: 34,816,270 (GRCm39) M727L probably benign Het
Ahnak T A 19: 8,977,628 (GRCm39) probably benign Het
Ankmy1 G T 1: 92,813,948 (GRCm39) D410E probably damaging Het
Ankra2 T C 13: 98,402,962 (GRCm39) S70P probably damaging Het
Aox4 T C 1: 58,302,556 (GRCm39) probably null Het
Arl13b G A 16: 62,622,096 (GRCm39) T399I probably benign Het
Atad2 A T 15: 57,966,636 (GRCm39) D652E possibly damaging Het
Atad2 T G 15: 57,984,345 (GRCm39) M328L probably benign Het
Ccnb1 T C 13: 100,916,642 (GRCm39) probably null Het
Ccr2 G C 9: 123,905,976 (GRCm39) K85N possibly damaging Het
Ccr2 A T 9: 123,906,163 (GRCm39) T148S possibly damaging Het
Cdc20b T C 13: 113,192,484 (GRCm39) V59A probably benign Het
Cdin1 C T 2: 115,473,172 (GRCm39) R101W probably damaging Het
Cdkl3 T C 11: 51,923,243 (GRCm39) S507P possibly damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1g A G 8: 94,060,317 (GRCm39) F101L probably benign Het
Cimap1d T C 10: 79,476,099 (GRCm39) D155G probably damaging Het
Cntnap3 C T 13: 65,006,492 (GRCm39) D107N probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Cstf3 A G 2: 104,479,950 (GRCm39) I272M possibly damaging Het
Cyp2d40 T C 15: 82,645,418 (GRCm39) T150A probably benign Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dop1b A T 16: 93,567,325 (GRCm39) T1251S probably benign Het
Dtx2 G A 5: 136,057,957 (GRCm39) G421R probably damaging Het
Epb41l3 T A 17: 69,554,654 (GRCm39) D251E probably benign Het
Erg A C 16: 95,161,842 (GRCm39) Y305* probably null Het
Exosc4 G A 15: 76,213,766 (GRCm39) A197T probably benign Het
Fam227b T A 2: 125,942,829 (GRCm39) I323L probably benign Het
Far1 G T 7: 113,153,503 (GRCm39) probably benign Het
Fmod A G 1: 133,968,934 (GRCm39) I325V possibly damaging Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gm4076 G T 13: 85,275,345 (GRCm39) noncoding transcript Het
Gm5134 A T 10: 75,828,359 (GRCm39) Y313F probably benign Het
H2-Q6 T A 17: 35,644,179 (GRCm39) F54I probably damaging Het
Hcrtr2 C A 9: 76,161,954 (GRCm39) L145F probably damaging Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Herc2 C A 7: 55,834,117 (GRCm39) C3107* probably null Het
Herc4 T C 10: 63,099,811 (GRCm39) V78A probably damaging Het
Hyal5 T C 6: 24,877,920 (GRCm39) W339R probably damaging Het
Igfbp6 T A 15: 102,056,419 (GRCm39) probably null Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Il1r2 T A 1: 40,162,309 (GRCm39) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Itgb4 C A 11: 115,870,521 (GRCm39) R117S probably benign Het
Lcorl C G 5: 45,891,711 (GRCm39) G214A probably benign Het
Lgals3bp T A 11: 118,289,019 (GRCm39) probably null Het
Lyst T A 13: 13,791,298 (GRCm39) L54I probably damaging Het
Mcm9 T C 10: 53,414,250 (GRCm39) T1015A probably benign Het
Mef2d T A 3: 88,063,825 (GRCm39) I84N probably damaging Het
Mmrn2 A G 14: 34,119,913 (GRCm39) N261S probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Mstn T A 1: 53,103,143 (GRCm39) Y160N probably damaging Het
Muc6 T C 7: 141,226,735 (GRCm39) T1431A probably benign Het
Nek9 A T 12: 85,348,657 (GRCm39) M959K probably benign Het
Or2ak6 G A 11: 58,593,069 (GRCm39) V181I probably benign Het
Or4f58 A T 2: 111,851,777 (GRCm39) C141S probably damaging Het
Or8b47 A T 9: 38,435,801 (GRCm39) M258L probably benign Het
Otog G T 7: 45,923,256 (GRCm39) G1044W probably damaging Het
Pcdh9 G A 14: 94,123,671 (GRCm39) T833M probably damaging Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Plekhg1 T C 10: 3,887,971 (GRCm39) V355A probably damaging Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Psd T C 19: 46,310,600 (GRCm39) E483G probably damaging Het
Ptch2 T A 4: 116,968,340 (GRCm39) L905* probably null Het
Rxfp2 T A 5: 149,989,880 (GRCm39) N420K probably damaging Het
Scpppq1 C A 5: 104,222,747 (GRCm39) G24* probably null Het
Sde2 T A 1: 180,689,992 (GRCm39) D237E probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Shc3 C T 13: 51,634,264 (GRCm39) probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slc23a2 A G 2: 131,913,937 (GRCm39) L280P probably damaging Het
Smchd1 G T 17: 71,694,083 (GRCm39) Q1221K probably benign Het
Spmip2 T A 3: 79,313,093 (GRCm39) W56R probably damaging Het
Spocd1 A G 4: 129,849,263 (GRCm39) N694S possibly damaging Het
Styxl2 C A 1: 165,926,670 (GRCm39) V981L probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Usp17le T C 7: 104,417,708 (GRCm39) N478S probably benign Het
Usp36 A G 11: 118,164,397 (GRCm39) V205A probably damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Vwf A T 6: 125,615,077 (GRCm39) H1176L probably benign Het
Zfyve28 C T 5: 34,389,550 (GRCm39) D217N possibly damaging Het
Zranb3 A C 1: 127,882,817 (GRCm39) probably null Het
Other mutations in Tmem131
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Tmem131 APN 1 36,850,508 (GRCm39) missense probably damaging 1.00
IGL00945:Tmem131 APN 1 36,866,086 (GRCm39) splice site probably benign
IGL01107:Tmem131 APN 1 36,868,662 (GRCm39) missense probably damaging 1.00
IGL01401:Tmem131 APN 1 36,838,468 (GRCm39) missense probably damaging 1.00
IGL01533:Tmem131 APN 1 36,857,803 (GRCm39) missense probably damaging 1.00
IGL01701:Tmem131 APN 1 36,847,318 (GRCm39) missense probably benign 0.02
IGL01784:Tmem131 APN 1 36,854,564 (GRCm39) missense probably damaging 1.00
IGL01890:Tmem131 APN 1 36,862,237 (GRCm39) splice site probably benign
IGL01969:Tmem131 APN 1 36,864,541 (GRCm39) missense possibly damaging 0.85
IGL02327:Tmem131 APN 1 36,838,103 (GRCm39) missense probably damaging 1.00
IGL02707:Tmem131 APN 1 36,864,560 (GRCm39) missense probably benign 0.03
IGL02743:Tmem131 APN 1 36,832,232 (GRCm39) missense probably benign 0.00
IGL03111:Tmem131 APN 1 36,867,225 (GRCm39) missense probably damaging 1.00
R0063:Tmem131 UTSW 1 36,858,209 (GRCm39) missense probably benign 0.09
R0063:Tmem131 UTSW 1 36,858,209 (GRCm39) missense probably benign 0.09
R0238:Tmem131 UTSW 1 36,867,131 (GRCm39) splice site probably benign
R0239:Tmem131 UTSW 1 36,867,131 (GRCm39) splice site probably benign
R0548:Tmem131 UTSW 1 36,877,119 (GRCm39) missense probably damaging 1.00
R0845:Tmem131 UTSW 1 36,855,303 (GRCm39) missense probably damaging 1.00
R0975:Tmem131 UTSW 1 36,893,966 (GRCm39) missense probably damaging 1.00
R1018:Tmem131 UTSW 1 36,833,900 (GRCm39) missense probably damaging 0.98
R1170:Tmem131 UTSW 1 36,873,979 (GRCm39) nonsense probably null
R1443:Tmem131 UTSW 1 36,864,559 (GRCm39) missense probably damaging 0.98
R1448:Tmem131 UTSW 1 36,866,439 (GRCm39) missense probably benign 0.16
R1472:Tmem131 UTSW 1 36,855,322 (GRCm39) missense possibly damaging 0.68
R1530:Tmem131 UTSW 1 36,866,090 (GRCm39) critical splice donor site probably null
R1672:Tmem131 UTSW 1 36,863,840 (GRCm39) missense probably damaging 1.00
R1872:Tmem131 UTSW 1 36,847,008 (GRCm39) missense probably benign 0.05
R1914:Tmem131 UTSW 1 36,835,347 (GRCm39) missense probably damaging 1.00
R1915:Tmem131 UTSW 1 36,835,347 (GRCm39) missense probably damaging 1.00
R1929:Tmem131 UTSW 1 36,851,352 (GRCm39) missense possibly damaging 0.50
R1971:Tmem131 UTSW 1 36,843,680 (GRCm39) nonsense probably null
R2146:Tmem131 UTSW 1 36,851,690 (GRCm39) missense probably benign 0.13
R2148:Tmem131 UTSW 1 36,851,690 (GRCm39) missense probably benign 0.13
R2149:Tmem131 UTSW 1 36,851,690 (GRCm39) missense probably benign 0.13
R2150:Tmem131 UTSW 1 36,851,690 (GRCm39) missense probably benign 0.13
R2386:Tmem131 UTSW 1 36,868,716 (GRCm39) missense probably benign 0.00
R2879:Tmem131 UTSW 1 36,880,788 (GRCm39) missense possibly damaging 0.76
R2903:Tmem131 UTSW 1 36,864,378 (GRCm39) missense probably damaging 1.00
R3430:Tmem131 UTSW 1 36,847,902 (GRCm39) splice site probably benign
R3821:Tmem131 UTSW 1 36,847,477 (GRCm39) missense probably damaging 0.99
R3961:Tmem131 UTSW 1 36,858,031 (GRCm39) missense probably damaging 1.00
R4153:Tmem131 UTSW 1 36,847,874 (GRCm39) intron probably benign
R4154:Tmem131 UTSW 1 36,847,874 (GRCm39) intron probably benign
R4502:Tmem131 UTSW 1 36,864,560 (GRCm39) missense probably benign 0.03
R4503:Tmem131 UTSW 1 36,864,560 (GRCm39) missense probably benign 0.03
R4795:Tmem131 UTSW 1 36,880,757 (GRCm39) missense probably damaging 1.00
R5030:Tmem131 UTSW 1 36,866,255 (GRCm39) missense possibly damaging 0.78
R5068:Tmem131 UTSW 1 36,893,986 (GRCm39) missense probably damaging 1.00
R5070:Tmem131 UTSW 1 36,893,986 (GRCm39) missense probably damaging 1.00
R5386:Tmem131 UTSW 1 36,911,639 (GRCm39) missense possibly damaging 0.47
R5507:Tmem131 UTSW 1 36,928,361 (GRCm39) missense probably damaging 1.00
R5569:Tmem131 UTSW 1 36,838,419 (GRCm39) missense probably benign 0.02
R5913:Tmem131 UTSW 1 36,858,209 (GRCm39) missense probably benign 0.01
R6044:Tmem131 UTSW 1 36,920,422 (GRCm39) nonsense probably null
R6125:Tmem131 UTSW 1 36,847,387 (GRCm39) missense possibly damaging 0.95
R6259:Tmem131 UTSW 1 36,858,209 (GRCm39) missense probably benign 0.09
R6392:Tmem131 UTSW 1 36,920,423 (GRCm39) missense probably benign 0.10
R6704:Tmem131 UTSW 1 36,835,261 (GRCm39) missense possibly damaging 0.77
R6828:Tmem131 UTSW 1 36,843,724 (GRCm39) missense possibly damaging 0.46
R6964:Tmem131 UTSW 1 36,835,373 (GRCm39) missense probably damaging 0.99
R7034:Tmem131 UTSW 1 36,832,054 (GRCm39) missense possibly damaging 0.80
R7036:Tmem131 UTSW 1 36,832,054 (GRCm39) missense possibly damaging 0.80
R7081:Tmem131 UTSW 1 36,928,376 (GRCm39) missense possibly damaging 0.94
R7278:Tmem131 UTSW 1 36,835,382 (GRCm39) missense probably damaging 0.99
R7282:Tmem131 UTSW 1 36,880,685 (GRCm39) missense probably damaging 1.00
R7294:Tmem131 UTSW 1 36,893,928 (GRCm39) missense possibly damaging 0.88
R7635:Tmem131 UTSW 1 36,911,629 (GRCm39) missense probably damaging 1.00
R7916:Tmem131 UTSW 1 36,862,167 (GRCm39) missense probably benign 0.00
R7948:Tmem131 UTSW 1 36,833,229 (GRCm39) missense probably damaging 1.00
R8012:Tmem131 UTSW 1 36,847,045 (GRCm39) missense probably damaging 1.00
R8244:Tmem131 UTSW 1 36,847,974 (GRCm39) missense probably benign 0.08
R8461:Tmem131 UTSW 1 36,833,902 (GRCm39) missense probably damaging 1.00
R8770:Tmem131 UTSW 1 36,838,186 (GRCm39) splice site probably benign
R8902:Tmem131 UTSW 1 36,848,046 (GRCm39) missense probably damaging 1.00
R8915:Tmem131 UTSW 1 36,868,658 (GRCm39) missense probably damaging 1.00
R8984:Tmem131 UTSW 1 36,867,228 (GRCm39) missense probably benign 0.05
R8994:Tmem131 UTSW 1 36,854,538 (GRCm39) missense probably benign 0.29
R9105:Tmem131 UTSW 1 36,854,591 (GRCm39) missense probably benign 0.44
R9156:Tmem131 UTSW 1 36,880,767 (GRCm39) missense possibly damaging 0.88
R9328:Tmem131 UTSW 1 36,858,236 (GRCm39) nonsense probably null
R9501:Tmem131 UTSW 1 36,858,265 (GRCm39) missense possibly damaging 0.73
R9633:Tmem131 UTSW 1 36,847,069 (GRCm39) missense probably damaging 0.99
Z1176:Tmem131 UTSW 1 36,835,338 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGAAGTGTAAGTGCCCTAAACC -3'
(R):5'- TCCAAGGGAGCTATCTGAGCAGAG -3'

Sequencing Primer
(F):5'- GTGTAAGTGCCCTAAACCTAATGTC -3'
(R):5'- GTACAACAGTGTGGCTAACTTG -3'
Posted On 2013-06-12