Incidental Mutation 'R6259:Tmem131'
ID 506518
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 044376-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R6259 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 36831270-36978714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36858209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 713 (V713I)
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: V713I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: V713I

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: V9I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191381
Predicted Effect probably benign
Transcript: ENSMUST00000194563
AA Change: V713I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: V713I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C A 12: 18,584,120 (GRCm39) N393K probably benign Het
Acap3 A T 4: 155,980,575 (GRCm39) I19F possibly damaging Het
Acsbg3 A G 17: 57,184,513 (GRCm39) Y96C probably benign Het
Adamts5 C T 16: 85,696,641 (GRCm39) R172H probably benign Het
Adgra3 A G 5: 50,156,483 (GRCm39) F416L possibly damaging Het
Amy1 T C 3: 113,363,059 (GRCm39) D96G possibly damaging Het
Ank2 A G 3: 126,810,635 (GRCm39) S484P probably benign Het
Arsa A G 15: 89,359,724 (GRCm39) C68R probably damaging Het
Asprv1 A G 6: 86,605,361 (GRCm39) Y69C probably benign Het
Ass1 A G 2: 31,378,654 (GRCm39) E162G possibly damaging Het
Atf7 G T 15: 102,455,673 (GRCm39) N230K probably damaging Het
Atp10b A G 11: 43,092,065 (GRCm39) M367V probably benign Het
Atp11b A G 3: 35,861,050 (GRCm39) Y179C probably damaging Het
BC004004 A T 17: 29,517,686 (GRCm39) Q300L possibly damaging Het
Bglap3 A T 3: 88,276,067 (GRCm39) I95N probably damaging Het
Cacna1h T C 17: 25,616,630 (GRCm39) probably null Het
Caskin2 C T 11: 115,691,279 (GRCm39) G1141D probably damaging Het
Clcn4 G A 7: 7,294,529 (GRCm39) R351W possibly damaging Het
Col11a1 T C 3: 113,932,096 (GRCm39) C89R probably benign Het
Csrp1 T G 1: 135,667,252 (GRCm39) probably null Het
Cwf19l2 T C 9: 3,458,879 (GRCm39) I776T probably damaging Het
Cyp2b19 A T 7: 26,470,817 (GRCm39) Q486L possibly damaging Het
Cyp2j9 T A 4: 96,472,243 (GRCm39) Y165F probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd1c G A 17: 57,374,104 (GRCm39) R522C probably damaging Het
Dmgdh T C 13: 93,888,816 (GRCm39) V818A probably benign Het
Dst T A 1: 34,221,477 (GRCm39) V2427E probably benign Het
Duox1 C T 2: 122,175,264 (GRCm39) T1354M probably benign Het
Ehbp1 A G 11: 22,235,684 (GRCm39) probably benign Het
Epc2 T A 2: 49,378,866 (GRCm39) probably null Het
Eya2 T C 2: 165,558,019 (GRCm39) V205A probably benign Het
Fat4 A G 3: 39,061,395 (GRCm39) H4326R probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm10100 G T 10: 77,562,498 (GRCm39) C60F possibly damaging Het
Hhip T A 8: 80,699,033 (GRCm39) R678W probably damaging Het
Il21r T A 7: 125,229,891 (GRCm39) I266K possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kif26b T C 1: 178,744,970 (GRCm39) S1689P probably damaging Het
L3mbtl2 A G 15: 81,566,128 (GRCm39) E317G probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lratd1 T A 12: 14,200,646 (GRCm39) D27V probably damaging Het
Lrr1 A G 12: 69,221,589 (GRCm39) N244D probably damaging Het
Lrrk2 A T 15: 91,586,450 (GRCm39) H422L probably benign Het
Map4k5 A G 12: 69,899,514 (GRCm39) S46P probably damaging Het
Ngf A G 3: 102,417,113 (GRCm39) probably benign Het
Nploc4 T C 11: 120,276,691 (GRCm39) I452V probably benign Het
Oas1d T A 5: 121,057,244 (GRCm39) Y283* probably null Het
Or52h1 A T 7: 103,829,261 (GRCm39) M118K possibly damaging Het
Or56b35 A T 7: 104,963,264 (GRCm39) I18F probably benign Het
Or5b109 A G 19: 13,211,785 (GRCm39) H57R probably damaging Het
Or5l13 T C 2: 87,779,779 (GRCm39) N266S probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Peg3 A G 7: 6,712,810 (GRCm39) V804A probably damaging Het
Piezo2 T A 18: 63,250,749 (GRCm39) Y450F possibly damaging Het
Pprc1 T A 19: 46,052,849 (GRCm39) V789E probably damaging Het
Prcc A G 3: 87,769,454 (GRCm39) M436T possibly damaging Het
Prepl A T 17: 85,377,859 (GRCm39) V507D probably damaging Het
Rag1 T A 2: 101,474,797 (GRCm39) N115I possibly damaging Het
Rap1gap T C 4: 137,409,068 (GRCm39) probably null Het
Reln A C 5: 22,265,331 (GRCm39) F454V probably damaging Het
Slc39a11 A T 11: 113,354,780 (GRCm39) S150T probably benign Het
Slc45a1 T A 4: 150,722,817 (GRCm39) I356F possibly damaging Het
Snrnp200 G A 2: 127,060,343 (GRCm39) G529D possibly damaging Het
Stkld1 A T 2: 26,839,393 (GRCm39) D353V possibly damaging Het
Susd2 T C 10: 75,473,880 (GRCm39) S572G probably damaging Het
Synrg T A 11: 83,899,484 (GRCm39) D563E probably damaging Het
Tnfrsf8 A G 4: 145,004,094 (GRCm39) probably null Het
Trim26 C T 17: 37,167,110 (GRCm39) A267V probably benign Het
Trpm1 T G 7: 63,918,226 (GRCm39) F522C possibly damaging Het
Uggt1 T C 1: 36,273,997 (GRCm39) I29V probably benign Het
Unc5d C T 8: 29,156,820 (GRCm39) M808I probably benign Het
Vmn2r108 T A 17: 20,683,371 (GRCm39) D611V possibly damaging Het
Vps13a A C 19: 16,664,534 (GRCm39) Y1436* probably null Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Zfp518a G T 19: 40,901,225 (GRCm39) V385F probably benign Het
Zfp541 C T 7: 15,829,451 (GRCm39) A1222V probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign 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
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
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'- AGCCCAGGGTCAAAATAAATGTTTG -3'
(R):5'- AAGCTGGCCTGTGATCTCAG -3'

Sequencing Primer
(F):5'- TTTGCAATCTGTAAAGGAACACAGG -3'
(R):5'- TGATCTCAGGTCTTCAGATTTGC -3'
Posted On 2018-03-15