Incidental Mutation 'R2148:Tmem131'
ID 233971
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 040151-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R2148 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 36831270-36978714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36851690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 938 (V938L)
Ref Sequence ENSEMBL: ENSMUSP00000142307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027290] [ENSMUST00000189470] [ENSMUST00000190442] [ENSMUST00000194563]
AlphaFold O70472
Predicted Effect probably benign
Transcript: ENSMUST00000027290
AA Change: V938L

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: V938L

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 noncoding transcript
Transcript: ENSMUST00000187917
Predicted Effect probably benign
Transcript: ENSMUST00000189470
Predicted Effect probably benign
Transcript: ENSMUST00000190442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191381
Predicted Effect probably benign
Transcript: ENSMUST00000194563
AA Change: V938L

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: V938L

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 0.0796 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Abca13 A G 11: 9,565,764 (GRCm39) Y4796C probably damaging Het
Actn2 A T 13: 12,315,835 (GRCm39) M228K probably damaging Het
Agbl1 T G 7: 76,064,465 (GRCm39) probably null Het
Ahi1 T G 10: 20,846,875 (GRCm39) V435G possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap6 A G X: 167,579,496 (GRCm39) T94A probably benign Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
Bcor G A X: 11,923,862 (GRCm39) A578V possibly damaging Het
Bop1 A G 15: 76,339,487 (GRCm39) V286A probably damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cacna1a A T 8: 85,356,304 (GRCm39) Q1887L possibly damaging Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Cnot2 A G 10: 116,342,185 (GRCm39) I173T probably benign Het
Cntnap5b T A 1: 100,311,199 (GRCm39) I564N probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dcaf8l T C X: 88,449,883 (GRCm39) D82G possibly damaging Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Dgkd T G 1: 87,809,643 (GRCm39) N110K probably damaging Het
Dhx8 A T 11: 101,629,203 (GRCm39) R198* probably null Het
Dnah8 A T 17: 30,956,232 (GRCm39) I2071F probably damaging Het
Dsc3 C T 18: 20,098,695 (GRCm39) R828Q probably damaging Het
Fbxl4 T C 4: 22,427,333 (GRCm39) F525L possibly damaging Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gpatch1 A G 7: 34,998,701 (GRCm39) V343A probably benign Het
Gpr139 A G 7: 118,744,192 (GRCm39) V131A probably benign Het
Hamp T C 7: 30,642,137 (GRCm39) T34A possibly damaging Het
Homer2 T G 7: 81,274,043 (GRCm39) D51A possibly damaging Het
Hspa1l C T 17: 35,196,366 (GRCm39) A135V probably damaging Het
Igsf10 A G 3: 59,243,998 (GRCm39) M112T possibly damaging Het
Ikbkb A T 8: 23,172,761 (GRCm39) L153Q probably damaging Het
Kif19a A T 11: 114,671,594 (GRCm39) I158F probably damaging Het
L1cam A T X: 72,904,747 (GRCm39) F536Y probably damaging Het
Lamb3 T C 1: 193,010,212 (GRCm39) V275A probably benign Het
Lhx1 A T 11: 84,410,647 (GRCm39) S226T probably benign Het
Llcfc1 G A 6: 41,662,155 (GRCm39) G53D possibly damaging Het
Loxl4 A G 19: 42,592,631 (GRCm39) probably null Het
Magee1 A T X: 104,166,564 (GRCm39) D783V probably damaging Het
Mak T C 13: 41,195,513 (GRCm39) K400R probably benign Het
Mgat4c T C 10: 102,224,790 (GRCm39) F335L probably benign Het
Mgat4f T A 1: 134,318,251 (GRCm39) M341K probably damaging Het
Mospd2 A G X: 163,739,473 (GRCm39) probably null Het
Mtor T C 4: 148,540,469 (GRCm39) F245L possibly damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myo5a T A 9: 75,087,429 (GRCm39) L1095H probably damaging Het
Nlrp1a T A 11: 71,013,733 (GRCm39) K506* probably null Het
Or5d18 C A 2: 87,864,943 (GRCm39) C180F probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Phkb A G 8: 86,744,115 (GRCm39) D588G probably damaging Het
Pkd1l2 A T 8: 117,783,064 (GRCm39) I752N probably damaging Het
Pkhd1 C A 1: 20,484,444 (GRCm39) probably null Het
Plod3 C T 5: 137,016,627 (GRCm39) R30* probably null Het
Ppfia4 T C 1: 134,240,372 (GRCm39) I591V probably benign Het
Prickle2 A G 6: 92,402,652 (GRCm39) L112P probably damaging Het
Ptgs2 G T 1: 149,981,465 (GRCm39) A583S probably benign Het
Pycr2 T C 1: 180,734,413 (GRCm39) V231A probably damaging Het
Ralgapa2 T C 2: 146,273,807 (GRCm39) D540G probably benign Het
Rasal1 T A 5: 120,800,096 (GRCm39) I150N probably damaging Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Sacs T C 14: 61,410,827 (GRCm39) L34P probably damaging Het
Sema3d A G 5: 12,534,926 (GRCm39) Y106C probably damaging Het
Serpinb8 T A 1: 107,533,657 (GRCm39) D237E probably benign Het
Slc19a2 T C 1: 164,089,657 (GRCm39) W158R probably damaging Het
Sorbs1 A T 19: 40,365,268 (GRCm39) F172I possibly damaging Het
Spaca7 A T 8: 12,636,447 (GRCm39) D91V probably damaging Het
Tead3 A G 17: 28,552,638 (GRCm39) F187L probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmem132c T A 5: 127,540,026 (GRCm39) W351R probably damaging Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Trap1 T C 16: 3,878,624 (GRCm39) D236G probably damaging Het
Trim45 T A 3: 100,839,360 (GRCm39) L754* probably null Het
Tubgcp5 A G 7: 55,449,259 (GRCm39) E152G probably damaging Het
Uaca A T 9: 60,776,961 (GRCm39) L447F probably damaging Het
Vps51 A G 19: 6,118,164 (GRCm39) V777A probably benign Het
Wdr11 A G 7: 129,230,807 (GRCm39) probably null Het
Zfp462 T A 4: 55,013,670 (GRCm39) S1879T probably benign Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G 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
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'- CTTTAAGGGTGAAAATCCAAACCC -3'
(R):5'- TCCTCTGTATGAGCAGTTTGAGAG -3'

Sequencing Primer
(F):5'- ACCCATACAAAGCACAGTTTTTC -3'
(R):5'- TATGAGCAGTTTGAGAGGCCTAG -3'
Posted On 2014-10-01