Incidental Mutation 'R5030:Tmem131'
ID 391594
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 042621-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R5030 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36831270-36978714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36866255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 483 (N483S)
Ref Sequence ENSEMBL: ENSMUSP00000142307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027290] [ENSMUST00000186486] [ENSMUST00000194563]
AlphaFold O70472
Predicted Effect possibly damaging
Transcript: ENSMUST00000027290
AA Change: N483S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: N483S

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 possibly damaging
Transcript: ENSMUST00000194563
AA Change: N483S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: N483S

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 0.2404 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (87/89)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A C 5: 26,684,783 (GRCm39) noncoding transcript Het
Abca15 A T 7: 119,939,224 (GRCm39) E206V probably damaging Het
Acy1 A G 9: 106,310,596 (GRCm39) F343L probably benign Het
Adam22 T C 5: 8,229,645 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,607,948 (GRCm39) D4041E probably benign Het
Akr1c14 T C 13: 4,129,102 (GRCm39) S166P probably damaging Het
Alms1 T A 6: 85,604,946 (GRCm39) C2199S probably damaging Het
Atm A T 9: 53,431,409 (GRCm39) Y316* probably null Het
Atp1a1 T C 3: 101,487,133 (GRCm39) D892G probably benign Het
Auts2 A G 5: 131,472,336 (GRCm39) V581A probably benign Het
Bltp1 A G 3: 36,997,548 (GRCm39) probably benign Het
Boll T A 1: 55,394,894 (GRCm39) N57I probably damaging Het
C1s2 A C 6: 124,612,547 (GRCm39) V36G possibly damaging Het
Capza1 T C 3: 104,748,154 (GRCm39) Y70C probably damaging Het
Carnmt1 T C 19: 18,668,950 (GRCm39) S292P possibly damaging Het
Cemip2 T G 19: 21,819,469 (GRCm39) F1087V probably benign Het
Cyp2g1 T G 7: 26,520,226 (GRCm39) V486G probably benign Het
Dennd6b T A 15: 89,080,454 (GRCm39) T49S possibly damaging Het
Dhx58 A T 11: 100,586,963 (GRCm39) I610N probably damaging Het
Elapor2 T A 5: 9,478,502 (GRCm39) N455K probably damaging Het
Fam170a T A 18: 50,415,021 (GRCm39) N222K probably benign Het
Fbn1 A G 2: 125,254,624 (GRCm39) V213A possibly damaging Het
Frem3 A C 8: 81,339,876 (GRCm39) D723A possibly damaging Het
Fsip2 A T 2: 82,818,836 (GRCm39) K4856N possibly damaging Het
Galnt17 A G 5: 130,905,351 (GRCm39) V571A probably damaging Het
Gm6124 A G 7: 38,872,454 (GRCm39) noncoding transcript Het
Gm8973 A G 15: 98,904,136 (GRCm39) noncoding transcript Het
Gpd2 A G 2: 57,194,417 (GRCm39) T107A probably damaging Het
Hsd17b11 G A 5: 104,151,158 (GRCm39) A192V probably damaging Het
Igkv6-25 C T 6: 70,192,426 (GRCm39) Q4* probably null Het
Kalrn A G 16: 33,796,112 (GRCm39) I1221T probably benign Het
Klhl9 G T 4: 88,638,771 (GRCm39) T490K possibly damaging Het
Lnpep A G 17: 17,799,571 (GRCm39) V28A probably damaging Het
Lrrc37 G A 11: 103,425,675 (GRCm39) P1419S unknown Het
Man2c1 A G 9: 57,047,923 (GRCm39) H843R probably benign Het
Map1b T C 13: 99,570,682 (GRCm39) K680E unknown Het
Metap2 A T 10: 93,715,539 (GRCm39) probably null Het
Mfsd2a A T 4: 122,843,949 (GRCm39) I340N possibly damaging Het
Mgll T C 6: 88,795,647 (GRCm39) probably null Het
Myh9 A G 15: 77,691,998 (GRCm39) probably benign Het
Ncapd3 A T 9: 26,983,062 (GRCm39) I937F probably damaging Het
Neb T C 2: 52,224,504 (GRCm39) probably benign Het
Nova1 A G 12: 46,747,030 (GRCm39) S416P probably damaging Het
Oosp3 T C 19: 11,678,308 (GRCm39) W95R probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t26 A T 11: 49,039,188 (GRCm39) M35L probably benign Het
Or5p76 T A 7: 108,122,384 (GRCm39) I258F possibly damaging Het
Or7e175 A T 9: 20,049,363 (GRCm39) K317M probably benign Het
Pcdha7 T A 18: 37,108,501 (GRCm39) S509T probably damaging Het
Pdgfrb T C 18: 61,198,207 (GRCm39) V296A probably benign Het
Pdzd2 A T 15: 12,592,494 (GRCm39) L50* probably null Het
Plcl2 G T 17: 50,914,347 (GRCm39) R452L possibly damaging Het
Poldip3 A T 15: 83,022,392 (GRCm39) F131I possibly damaging Het
Pwwp3a T C 10: 80,076,209 (GRCm39) probably benign Het
Rffl G A 11: 82,703,543 (GRCm39) R127* probably null Het
Sec24d T A 3: 123,152,550 (GRCm39) V854E probably damaging Het
Sgo2a T A 1: 58,056,918 (GRCm39) L1034* probably null Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
Spaca1 A T 4: 34,039,247 (GRCm39) N95K possibly damaging Het
Spag17 C T 3: 99,992,657 (GRCm39) Q1718* probably null Het
Spdl1 C T 11: 34,714,267 (GRCm39) A141T probably benign Het
Stxbp3-ps A T 19: 9,535,714 (GRCm39) noncoding transcript Het
Supv3l1 G T 10: 62,266,394 (GRCm39) A594D probably damaging Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tonsl A T 15: 76,522,301 (GRCm39) C231S probably damaging Het
Trav9n-4 T C 14: 53,532,305 (GRCm39) F53S possibly damaging Het
Trgv7 G T 13: 19,362,558 (GRCm39) L82F probably damaging Het
Trim45 T G 3: 100,835,388 (GRCm39) V457G probably damaging Het
Trpm1 T A 7: 63,885,579 (GRCm39) I865N probably damaging Het
Trpm3 C A 19: 22,676,130 (GRCm39) L99I probably benign Het
Twist1 T A 12: 34,008,440 (GRCm39) L155Q probably damaging Het
Vac14 A G 8: 111,437,018 (GRCm39) E577G possibly damaging Het
Vmn1r184 T C 7: 25,966,881 (GRCm39) V209A probably benign Het
Xdh C T 17: 74,198,288 (GRCm39) G1200R probably damaging Het
Zbbx C T 3: 74,990,990 (GRCm39) D290N possibly damaging Het
Zbtb40 T C 4: 136,725,263 (GRCm39) T585A probably benign Het
Zc3h4 T A 7: 16,156,155 (GRCm39) D262E unknown Het
Zfp777 G T 6: 48,014,601 (GRCm39) D368E probably 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
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'- GTAGGACCTTGACGACATACTTACATC -3'
(R):5'- TGTTTCACATCCAGGACAGTCC -3'

Sequencing Primer
(F):5'- TCTAAAAAGCCTGTGTATACCCG -3'
(R):5'- AGTGGAGAGGCCGATCTACCTG -3'
Posted On 2016-06-06