Incidental Mutation 'R8973:Tmem131l'
ID 683227
Institutional Source Beutler Lab
Gene Symbol Tmem131l
Ensembl Gene ENSMUSG00000033767
Gene Name transmembrane 131 like
Synonyms D930015E06Rik
MMRRC Submission 068807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R8973 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 83804962-83947482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83836039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 690 (V690D)
Ref Sequence ENSEMBL: ENSMUSP00000141438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052342] [ENSMUST00000191758] [ENSMUST00000192095]
AlphaFold Q3U3D7
Predicted Effect probably damaging
Transcript: ENSMUST00000052342
AA Change: V690D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: V690D

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
Pfam:TMEM131_like 91 174 5.8e-20 PFAM
low complexity region 464 477 N/A INTRINSIC
low complexity region 612 630 N/A INTRINSIC
low complexity region 904 917 N/A INTRINSIC
low complexity region 990 997 N/A INTRINSIC
low complexity region 1221 1239 N/A INTRINSIC
low complexity region 1291 1324 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191758
AA Change: V690D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: V690D

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
Pfam:DUF3651 155 228 9.2e-10 PFAM
Pfam:DUF3651 285 362 1.5e-9 PFAM
low complexity region 464 477 N/A INTRINSIC
low complexity region 612 630 N/A INTRINSIC
low complexity region 904 917 N/A INTRINSIC
low complexity region 990 997 N/A INTRINSIC
low complexity region 1221 1239 N/A INTRINSIC
low complexity region 1291 1324 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192095
AA Change: V690D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: V690D

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
Pfam:DUF3651 155 228 8.8e-10 PFAM
Pfam:DUF3651 285 362 1.4e-9 PFAM
low complexity region 464 477 N/A INTRINSIC
low complexity region 612 630 N/A INTRINSIC
low complexity region 904 917 N/A INTRINSIC
low complexity region 989 996 N/A INTRINSIC
low complexity region 1220 1238 N/A INTRINSIC
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,886,959 (GRCm39) I975N probably benign Het
Adcy8 A G 15: 64,570,984 (GRCm39) *1250Q probably null Het
Anapc1 A T 2: 128,505,952 (GRCm39) I628N probably damaging Het
Ankrd39 C T 1: 36,578,439 (GRCm39) probably benign Het
Ankub1 A T 3: 57,572,932 (GRCm39) S263R possibly damaging Het
Aoah A G 13: 21,024,325 (GRCm39) I94V probably benign Het
Aox1 A G 1: 58,329,113 (GRCm39) D186G probably benign Het
Arap2 A T 5: 62,855,668 (GRCm39) C589* probably null Het
Armt1 T C 10: 4,389,550 (GRCm39) L69P probably damaging Het
Atxn7l3 T A 11: 102,183,598 (GRCm39) Y185F probably benign Het
Cacna2d4 A G 6: 119,218,142 (GRCm39) D159G probably damaging Het
Camta2 C A 11: 70,561,184 (GRCm39) R1184L probably benign Het
Ccdc192 T G 18: 57,725,139 (GRCm39) L123V possibly damaging Het
Ccr7 G A 11: 99,036,649 (GRCm39) T91I probably damaging Het
Cdh9 A G 15: 16,831,131 (GRCm39) T323A possibly damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Clec2e C A 6: 129,070,374 (GRCm39) G216* probably null Het
Col25a1 T C 3: 130,269,275 (GRCm39) S176P unknown Het
Col4a3 A C 1: 82,693,052 (GRCm39) I1446L probably benign Het
Cplane1 T C 15: 8,233,277 (GRCm39) W1201R probably damaging Het
Cse1l A G 2: 166,785,000 (GRCm39) E823G probably damaging Het
Cspg4b A G 13: 113,456,293 (GRCm39) T780A Het
Dchs2 A G 3: 83,261,763 (GRCm39) E2677G possibly damaging Het
Dis3l T C 9: 64,246,824 (GRCm39) E77G probably damaging Het
Dnah6 T C 6: 73,121,734 (GRCm39) D1416G probably benign Het
Dpyd T C 3: 119,108,582 (GRCm39) probably null Het
Dst A G 1: 34,267,936 (GRCm39) D3112G probably damaging Het
Dusp13b A C 14: 21,784,974 (GRCm39) N128K probably benign Het
Emilin2 T G 17: 71,582,079 (GRCm39) K216Q probably benign Het
Enam T C 5: 88,641,947 (GRCm39) W254R possibly damaging Het
Esrrg A C 1: 187,930,947 (GRCm39) N346T possibly damaging Het
Fbn2 C T 18: 58,286,928 (GRCm39) G244R probably damaging Het
Fbxw25 A G 9: 109,479,132 (GRCm39) L373P Het
Gm21060 C A 19: 61,285,366 (GRCm39) V48L possibly damaging Het
Gtpbp3 T C 8: 71,943,806 (GRCm39) V254A possibly damaging Het
H2-DMb2 A G 17: 34,367,699 (GRCm39) D171G probably damaging Het
Hrg A T 16: 22,777,968 (GRCm39) T242S probably benign Het
Inf2 G T 12: 112,573,949 (GRCm39) C751F unknown Het
Krt13 A T 11: 100,010,264 (GRCm39) M239K possibly damaging Het
Lrrc72 A G 12: 36,303,293 (GRCm39) S7P probably benign Het
Matn2 A G 15: 34,433,196 (GRCm39) I867V probably benign Het
Mdh2 C T 5: 135,819,019 (GRCm39) A325V possibly damaging Het
Mki67 C A 7: 135,297,364 (GRCm39) A2557S possibly damaging Het
Mrpl16 A T 19: 11,750,307 (GRCm39) R64* probably null Het
Nav1 T C 1: 135,512,463 (GRCm39) D199G probably benign Het
Nbn T C 4: 15,986,585 (GRCm39) V662A probably damaging Het
Nek10 G A 14: 14,931,321 (GRCm38) probably null Het
Or14a257 A G 7: 86,138,487 (GRCm39) S91P probably damaging Het
Or5t18 C A 2: 86,637,200 (GRCm39) V48F probably benign Het
Or7g12 C A 9: 18,899,974 (GRCm39) S230* probably null Het
Or8b37 T A 9: 37,958,839 (GRCm39) V107D possibly damaging Het
Pcsk7 T G 9: 45,838,940 (GRCm39) S617R probably benign Het
Pde10a C A 17: 9,143,071 (GRCm39) Q6K probably benign Het
Pigq A C 17: 26,151,141 (GRCm39) M396R probably damaging Het
Pkhd1l1 T A 15: 44,449,833 (GRCm39) D3865E probably damaging Het
Prag1 C T 8: 36,566,744 (GRCm39) probably benign Het
Rbis C T 3: 14,672,305 (GRCm39) V97I probably benign Het
Rint1 A G 5: 24,016,728 (GRCm39) T498A probably benign Het
Rnf213 T A 11: 119,352,756 (GRCm39) F3921I Het
Rpp14 A G 14: 8,088,768 (GRCm38) S95G probably benign Het
Ryk T G 9: 102,739,120 (GRCm39) Y78D possibly damaging Het
Sez6 A T 11: 77,865,397 (GRCm39) Q678L probably damaging Het
Slc22a21 T C 11: 53,860,402 (GRCm39) K141E probably damaging Het
Slc30a5 A T 13: 100,943,202 (GRCm39) I609K probably damaging Het
Slc44a4 T C 17: 35,140,538 (GRCm39) F244L probably damaging Het
Spata31e1 A T 13: 49,941,715 (GRCm39) D80E probably benign Het
Susd5 T C 9: 113,911,572 (GRCm39) Y161H possibly damaging Het
Syne3 A G 12: 104,925,654 (GRCm39) probably null Het
Tbcd G C 11: 121,387,679 (GRCm39) probably benign Het
Tektip1 T C 10: 81,199,849 (GRCm39) D129G unknown Het
Tmc1 A T 19: 20,878,215 (GRCm39) N93K probably benign Het
Tmem100 T A 11: 89,926,302 (GRCm39) M43K probably benign Het
Trim8 A G 19: 46,503,903 (GRCm39) Q485R possibly damaging Het
Vmn2r63 A T 7: 42,577,919 (GRCm39) H206Q probably benign Het
Vmn2r77 T A 7: 86,452,150 (GRCm39) N443K possibly damaging Het
Zan T A 5: 137,387,578 (GRCm39) I4878F unknown Het
Zfand4 A G 6: 116,291,041 (GRCm39) D344G probably benign Het
Other mutations in Tmem131l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Tmem131l APN 3 83,849,807 (GRCm39) missense probably damaging 0.99
IGL00777:Tmem131l APN 3 83,806,597 (GRCm39) missense probably damaging 1.00
IGL01400:Tmem131l APN 3 83,829,429 (GRCm39) missense probably damaging 0.99
IGL01642:Tmem131l APN 3 83,845,357 (GRCm39) missense possibly damaging 0.63
IGL01796:Tmem131l APN 3 83,845,362 (GRCm39) nonsense probably null
IGL02055:Tmem131l APN 3 83,817,673 (GRCm39) splice site probably null
IGL02269:Tmem131l APN 3 83,845,357 (GRCm39) missense possibly damaging 0.63
IGL02806:Tmem131l APN 3 83,836,123 (GRCm39) splice site probably benign
IGL03308:Tmem131l APN 3 83,848,209 (GRCm39) missense probably benign 0.00
IGL03345:Tmem131l APN 3 83,868,896 (GRCm39) missense probably damaging 1.00
R0106:Tmem131l UTSW 3 83,842,122 (GRCm39) splice site probably benign
R0112:Tmem131l UTSW 3 83,847,894 (GRCm39) nonsense probably null
R0212:Tmem131l UTSW 3 83,820,575 (GRCm39) missense probably benign 0.19
R0328:Tmem131l UTSW 3 83,829,238 (GRCm39) splice site probably benign
R0412:Tmem131l UTSW 3 83,938,955 (GRCm39) missense probably damaging 1.00
R0544:Tmem131l UTSW 3 83,805,853 (GRCm39) missense probably damaging 1.00
R0676:Tmem131l UTSW 3 83,842,122 (GRCm39) splice site probably benign
R0815:Tmem131l UTSW 3 83,847,879 (GRCm39) missense probably benign 0.01
R0826:Tmem131l UTSW 3 83,805,724 (GRCm39) missense probably damaging 1.00
R1432:Tmem131l UTSW 3 83,836,021 (GRCm39) missense probably damaging 1.00
R1582:Tmem131l UTSW 3 83,839,090 (GRCm39) missense probably damaging 0.99
R1591:Tmem131l UTSW 3 83,848,196 (GRCm39) critical splice donor site probably null
R1804:Tmem131l UTSW 3 83,817,786 (GRCm39) missense possibly damaging 0.72
R1875:Tmem131l UTSW 3 83,812,383 (GRCm39) nonsense probably null
R1955:Tmem131l UTSW 3 83,868,851 (GRCm39) missense probably damaging 1.00
R2049:Tmem131l UTSW 3 83,850,095 (GRCm39) missense probably damaging 1.00
R2125:Tmem131l UTSW 3 83,850,058 (GRCm39) critical splice donor site probably null
R2173:Tmem131l UTSW 3 83,833,452 (GRCm39) missense probably damaging 1.00
R2321:Tmem131l UTSW 3 83,843,330 (GRCm39) missense probably damaging 0.98
R2407:Tmem131l UTSW 3 83,829,355 (GRCm39) missense probably benign 0.25
R2917:Tmem131l UTSW 3 83,844,887 (GRCm39) nonsense probably null
R3082:Tmem131l UTSW 3 83,816,457 (GRCm39) critical splice donor site probably null
R3086:Tmem131l UTSW 3 83,839,046 (GRCm39) missense probably benign 0.00
R3773:Tmem131l UTSW 3 83,805,893 (GRCm39) missense probably damaging 1.00
R3921:Tmem131l UTSW 3 83,847,908 (GRCm39) missense possibly damaging 0.68
R3953:Tmem131l UTSW 3 83,817,726 (GRCm39) missense probably damaging 1.00
R3954:Tmem131l UTSW 3 83,817,726 (GRCm39) missense probably damaging 1.00
R3956:Tmem131l UTSW 3 83,817,726 (GRCm39) missense probably damaging 1.00
R4118:Tmem131l UTSW 3 83,868,074 (GRCm39) missense probably benign 0.00
R4700:Tmem131l UTSW 3 83,806,519 (GRCm39) missense probably benign
R4862:Tmem131l UTSW 3 83,805,517 (GRCm39) splice site probably benign
R4941:Tmem131l UTSW 3 83,806,546 (GRCm39) missense probably benign 0.03
R5101:Tmem131l UTSW 3 83,844,811 (GRCm39) missense probably damaging 0.96
R5290:Tmem131l UTSW 3 83,806,572 (GRCm39) missense probably benign 0.30
R5501:Tmem131l UTSW 3 83,833,435 (GRCm39) missense probably damaging 1.00
R5813:Tmem131l UTSW 3 83,847,879 (GRCm39) missense probably benign 0.01
R5845:Tmem131l UTSW 3 83,847,860 (GRCm39) missense probably damaging 0.99
R5973:Tmem131l UTSW 3 83,829,553 (GRCm39) missense possibly damaging 0.95
R6119:Tmem131l UTSW 3 83,805,689 (GRCm39) missense probably damaging 1.00
R6241:Tmem131l UTSW 3 83,829,471 (GRCm39) missense probably benign 0.06
R6278:Tmem131l UTSW 3 83,849,798 (GRCm39) missense possibly damaging 0.93
R6490:Tmem131l UTSW 3 83,820,587 (GRCm39) missense possibly damaging 0.67
R6502:Tmem131l UTSW 3 83,829,715 (GRCm39) missense probably damaging 1.00
R6503:Tmem131l UTSW 3 83,848,251 (GRCm39) missense probably benign 0.26
R6868:Tmem131l UTSW 3 83,868,938 (GRCm39) missense probably damaging 0.99
R7104:Tmem131l UTSW 3 83,826,766 (GRCm39) missense possibly damaging 0.68
R7736:Tmem131l UTSW 3 83,847,875 (GRCm39) missense probably damaging 0.97
R7885:Tmem131l UTSW 3 83,817,724 (GRCm39) missense possibly damaging 0.89
R8085:Tmem131l UTSW 3 83,834,438 (GRCm39) missense possibly damaging 0.81
R8164:Tmem131l UTSW 3 83,833,495 (GRCm39) nonsense probably null
R8478:Tmem131l UTSW 3 83,805,769 (GRCm39) missense probably damaging 0.99
R8677:Tmem131l UTSW 3 83,836,009 (GRCm39) missense probably damaging 1.00
R8942:Tmem131l UTSW 3 83,805,793 (GRCm39) missense possibly damaging 0.66
R8943:Tmem131l UTSW 3 83,831,479 (GRCm39) missense probably damaging 1.00
R9068:Tmem131l UTSW 3 83,817,775 (GRCm39) missense probably benign 0.05
R9096:Tmem131l UTSW 3 83,850,122 (GRCm39) missense probably damaging 1.00
R9097:Tmem131l UTSW 3 83,850,122 (GRCm39) missense probably damaging 1.00
R9143:Tmem131l UTSW 3 83,842,220 (GRCm39) missense probably benign 0.14
R9273:Tmem131l UTSW 3 83,848,244 (GRCm39) missense probably damaging 1.00
R9325:Tmem131l UTSW 3 83,817,768 (GRCm39) missense probably benign 0.00
R9400:Tmem131l UTSW 3 83,830,293 (GRCm39) missense possibly damaging 0.68
R9433:Tmem131l UTSW 3 83,845,459 (GRCm39) missense probably benign 0.14
R9574:Tmem131l UTSW 3 83,868,911 (GRCm39) missense probably damaging 1.00
R9647:Tmem131l UTSW 3 83,836,018 (GRCm39) missense probably damaging 1.00
R9750:Tmem131l UTSW 3 83,831,358 (GRCm39) missense probably damaging 1.00
R9796:Tmem131l UTSW 3 83,829,402 (GRCm39) missense probably damaging 0.99
Z1177:Tmem131l UTSW 3 83,947,400 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTTTTGGAGACACTAGCTTAC -3'
(R):5'- ACAGCATAGTCCTTGTCTAGCAC -3'

Sequencing Primer
(F):5'- TAGCTTACTAGGGGAGGGATTAAATG -3'
(R):5'- TGTCTAGCACATTATAAGCAGTGGG -3'
Posted On 2021-10-11