Incidental Mutation 'R5913:Tmem131'
ID 461086
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 044110-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R5913 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36831270-36978714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36858209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 713 (V713L)
Ref Sequence ENSEMBL: ENSMUSP00000142307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027290] [ENSMUST00000186486] [ENSMUST00000189470] [ENSMUST00000190442] [ENSMUST00000194563]
AlphaFold O70472
Predicted Effect probably benign
Transcript: ENSMUST00000027290
AA Change: V713L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: V713L

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 benign
Transcript: ENSMUST00000186486
SMART Domains Protein: ENSMUSP00000142080
Gene: ENSMUSG00000026116

DomainStartEndE-ValueType
low complexity region 31 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189470
Predicted Effect probably benign
Transcript: ENSMUST00000190442
AA Change: V9L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191381
Predicted Effect probably benign
Transcript: ENSMUST00000194563
AA Change: V713L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: V713L

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 0.0574 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 97% (75/77)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2cl A T 9: 110,718,773 (GRCm39) probably null Het
Arhgef19 A T 4: 140,976,609 (GRCm39) H457L probably benign Het
Armc3 A G 2: 19,314,858 (GRCm39) Y856C possibly damaging Het
Bdp1 A T 13: 100,187,612 (GRCm39) V1585D probably benign Het
Bhlhe40 T G 6: 108,642,154 (GRCm39) M366R possibly damaging Het
Bora C T 14: 99,305,948 (GRCm39) S439L probably benign Het
Cacnb4 G A 2: 52,324,796 (GRCm39) probably benign Het
Carm1 T C 9: 21,498,848 (GRCm39) S529P probably benign Het
Cd200r1 A G 16: 44,610,034 (GRCm39) I84M possibly damaging Het
Cd209a A G 8: 3,798,742 (GRCm39) S22P probably benign Het
Celf2 A T 2: 7,085,969 (GRCm39) M1K probably null Het
Cep112 A G 11: 108,648,514 (GRCm39) T783A probably damaging Het
Cep95 T C 11: 106,709,335 (GRCm39) probably benign Het
Clip4 G A 17: 72,131,760 (GRCm39) R366K probably benign Het
Csmd2 A G 4: 128,445,781 (GRCm39) K3284E probably benign Het
Csn3 T A 5: 88,075,470 (GRCm39) L12Q probably damaging Het
Ctdnep1 T C 11: 69,879,691 (GRCm39) L39P probably damaging Het
Cxcl17 C T 7: 25,101,671 (GRCm39) W55* probably null Het
Cyp2u1 G A 3: 131,096,860 (GRCm39) probably benign Het
Dmgdh A T 13: 93,888,831 (GRCm39) E823V possibly damaging Het
Dnah2 T C 11: 69,339,256 (GRCm39) I3078V probably damaging Het
Dpp10 A C 1: 123,312,018 (GRCm39) Y446D probably damaging Het
Eif2s3y T C Y: 1,017,365 (GRCm39) V290A probably benign Homo
Fktn G A 4: 53,735,035 (GRCm39) W224* probably null Het
Gm37240 T C 3: 84,874,905 (GRCm39) probably benign Het
Gpr3 A G 4: 132,938,489 (GRCm39) V61A probably damaging Het
Gulo T C 14: 66,237,470 (GRCm39) probably null Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hectd4 T A 5: 121,462,037 (GRCm39) I968K possibly damaging Het
Hmox2 G T 16: 4,582,732 (GRCm39) R155L probably damaging Het
Ifnlr1 C A 4: 135,432,580 (GRCm39) Q339K probably damaging Het
Ifnlr1 A T 4: 135,432,581 (GRCm39) Q339L probably damaging Het
Irf4 T A 13: 30,941,741 (GRCm39) S365T probably benign Het
Klrb1a T G 6: 128,595,472 (GRCm39) D124A probably damaging Het
Macf1 A T 4: 123,369,832 (GRCm39) I78N probably damaging Het
Mctp1 G T 13: 76,907,944 (GRCm39) probably null Het
Muc21 C T 17: 35,934,123 (GRCm39) probably benign Het
Mxra8 A T 4: 155,927,760 (GRCm39) probably null Het
Nlrp2 T A 7: 5,327,902 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
P2ry13 T C 3: 59,116,786 (GRCm39) T331A probably benign Het
Padi2 G A 4: 140,644,952 (GRCm39) R62H probably benign Het
Pcdhb15 A T 18: 37,607,707 (GRCm39) Q313L probably benign Het
Pcdhga11 A G 18: 37,889,045 (GRCm39) I18V probably benign Het
Pcdhga11 A G 18: 37,891,142 (GRCm39) R717G probably benign Het
Pcif1 C A 2: 164,726,412 (GRCm39) probably benign Het
Pkd1l1 T C 11: 8,813,849 (GRCm39) T1501A probably benign Het
Plekhg2 C A 7: 28,064,027 (GRCm39) R473L probably damaging Het
Plekhn1 T C 4: 156,307,152 (GRCm39) Y466C probably damaging Het
Sec22c A G 9: 121,519,368 (GRCm39) S83P possibly damaging Het
Sgcz T A 8: 37,993,425 (GRCm39) Q224L possibly damaging Het
Slc27a1 C T 8: 72,036,907 (GRCm39) P381L probably benign Het
Slc8a1 T A 17: 81,955,431 (GRCm39) I536F probably damaging Het
Src T A 2: 157,307,950 (GRCm39) probably null Het
Sybu T A 15: 44,651,017 (GRCm39) T96S probably damaging Het
Tbc1d22a T C 15: 86,235,929 (GRCm39) Y363H probably damaging Het
Tdrd6 T C 17: 43,939,302 (GRCm39) E582G possibly damaging Het
Tnfsf13b T A 8: 10,056,988 (GRCm39) L49Q probably damaging Het
Trem2 T A 17: 48,653,661 (GRCm39) probably benign Het
Tspyl3 T A 2: 153,066,636 (GRCm39) M201L probably benign Het
Ttl A G 2: 128,917,961 (GRCm39) D141G probably benign Het
Ube2z A G 11: 95,951,889 (GRCm39) V153A possibly damaging Het
Ubr3 A G 2: 69,851,559 (GRCm39) Y1842C probably damaging Het
Usp33 T C 3: 152,086,229 (GRCm39) V656A probably damaging Het
Vmn2r74 G A 7: 85,601,098 (GRCm39) R847C probably damaging Het
Vmo1 A T 11: 70,405,241 (GRCm39) V63D probably damaging Het
Zcwpw1 T A 5: 137,798,269 (GRCm39) D155E probably benign Het
Zeb1 T G 18: 5,766,765 (GRCm39) S425R possibly damaging 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
R0499:Tmem131 UTSW 1 36,880,754 (GRCm39) missense probably damaging 1.00
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
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'- GCCCAGGGTCAAAATAAATGTTTG -3'
(R):5'- AAGCTGGCCTGTGATCTCAG -3'

Sequencing Primer
(F):5'- TTTGCAATCTGTAAAGGAACACAGG -3'
(R):5'- TGATCTCAGGTCTTCAGATTTGC -3'
Posted On 2017-02-28