Incidental Mutation 'R6490:Tmem131l'
ID 522735
Institutional Source Beutler Lab
Gene Symbol Tmem131l
Ensembl Gene ENSMUSG00000033767
Gene Name transmembrane 131 like
Synonyms D930015E06Rik
MMRRC Submission 044622-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R6490 (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 G at 83820587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1222 (S1222P)
Ref Sequence ENSEMBL: ENSMUSP00000049808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052342] [ENSMUST00000191758] [ENSMUST00000192095]
AlphaFold Q3U3D7
Predicted Effect possibly damaging
Transcript: ENSMUST00000052342
AA Change: S1222P

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: S1222P

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 benign
Transcript: ENSMUST00000191758
AA Change: S1223P

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: S1223P

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 possibly damaging
Transcript: ENSMUST00000192095
AA Change: S1222P

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: S1222P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195245
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik T G 8: 122,267,293 (GRCm39) K38T probably benign Het
Abca13 A G 11: 9,248,661 (GRCm39) T2803A probably benign Het
Adam23 A G 1: 63,596,613 (GRCm39) D565G probably damaging Het
Adcy3 A G 12: 4,262,150 (GRCm39) T1067A probably damaging Het
Agrn A T 4: 156,251,819 (GRCm39) Y1921* probably null Het
Apc2 A G 10: 80,149,757 (GRCm39) N1604D probably benign Het
Atxn7 A T 14: 14,089,446 (GRCm38) R321* probably null Het
Axin1 T A 17: 26,361,968 (GRCm39) I104N probably damaging Het
Bahd1 T C 2: 118,747,619 (GRCm39) S413P probably benign Het
Baz2b C T 2: 59,732,073 (GRCm39) C2024Y probably damaging Het
Cacna1i T A 15: 80,262,448 (GRCm39) V1388E probably damaging Het
Ces4a G A 8: 105,876,090 (GRCm39) V544M probably benign Het
Cntn3 G A 6: 102,255,301 (GRCm39) T199I probably damaging Het
Col6a4 A T 9: 105,952,191 (GRCm39) L569* probably null Het
Ctnna2 A G 6: 77,120,892 (GRCm39) I12T probably benign Het
Dhx37 A G 5: 125,496,196 (GRCm39) M754T probably benign Het
Dmrt1 T A 19: 25,523,395 (GRCm39) S249T possibly damaging Het
Ell G T 8: 71,025,553 (GRCm39) S59I probably damaging Het
Fam89a G A 8: 125,467,982 (GRCm39) S110F probably damaging Het
Fer1l4 A C 2: 155,889,834 (GRCm39) F278V possibly damaging Het
Fyn T C 10: 39,427,398 (GRCm39) I427T probably damaging Het
Galnt14 T C 17: 73,832,365 (GRCm39) D250G probably damaging Het
Glp1r T C 17: 31,143,546 (GRCm39) V194A probably damaging Het
Glt1d1 T A 5: 127,721,360 (GRCm39) probably null Het
Gm7995 A G 14: 42,133,327 (GRCm39) K69R probably benign Het
Grip1 A G 10: 119,822,329 (GRCm39) T379A possibly damaging Het
Gtpbp2 G T 17: 46,479,147 (GRCm39) A570S probably benign Het
Hmcn1 T C 1: 150,459,029 (GRCm39) I5192V probably benign Het
Igfl3 A T 7: 17,913,844 (GRCm39) I65F possibly damaging Het
Igsf10 G T 3: 59,236,992 (GRCm39) T1063K probably benign Het
Itfg1 A G 8: 86,466,930 (GRCm39) V381A probably benign Het
Itprid1 A G 6: 55,953,405 (GRCm39) D907G probably damaging Het
Jmjd8 T A 17: 26,048,086 (GRCm39) V16E probably benign Het
Kank1 A G 19: 25,387,449 (GRCm39) Y374C probably damaging Het
Kcnma1 C T 14: 23,386,165 (GRCm39) V891I possibly damaging Het
Kif20a C A 18: 34,762,543 (GRCm39) T472K possibly damaging Het
Klhl32 A T 4: 24,711,578 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,347,486 (GRCm39) S3070P unknown Het
Mettl21e T G 1: 44,249,425 (GRCm39) Y77S probably damaging Het
Mlst8 G T 17: 24,696,935 (GRCm39) D82E probably benign Het
Mrgprx2 A T 7: 48,132,617 (GRCm39) L67Q probably damaging Het
Mylk T A 16: 34,750,237 (GRCm39) L1192Q possibly damaging Het
Myt1l A T 12: 29,882,365 (GRCm39) Y520F unknown Het
Naip2 A T 13: 100,297,193 (GRCm39) W948R probably benign Het
Nlrp9a A C 7: 26,250,311 (GRCm39) K25N probably damaging Het
Nsd3 T C 8: 26,204,212 (GRCm39) C414R probably damaging Het
Oit3 A T 10: 59,274,374 (GRCm39) V142D possibly damaging Het
Or2aj6 C T 16: 19,443,194 (GRCm39) V219M probably benign Het
P2ry6 T C 7: 100,587,580 (GRCm39) T260A probably damaging Het
Papola A G 12: 105,771,196 (GRCm39) Q87R probably benign Het
Pla2g4a T A 1: 149,727,086 (GRCm39) R557* probably null Het
Rgs13 G T 1: 144,016,576 (GRCm39) H56N probably damaging Het
Sbf1 T C 15: 89,189,111 (GRCm39) S537G probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Spata31h1 A T 10: 82,125,138 (GRCm39) L2624Q possibly damaging Het
Stam2 T C 2: 52,610,954 (GRCm39) T23A probably benign Het
Tbl1xr1 C A 3: 22,258,141 (GRCm39) H467Q probably damaging Het
Tmem43 G T 6: 91,455,759 (GRCm39) Q123H probably damaging Het
Tmem43 T A 6: 91,463,862 (GRCm39) I379N possibly damaging Het
Trim43c A T 9: 88,727,003 (GRCm39) I277F possibly damaging Het
Ttn A G 2: 76,703,211 (GRCm39) probably benign Het
Vmn1r75 T A 7: 11,615,003 (GRCm39) V245D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps53 A T 11: 75,967,881 (GRCm39) M414K probably benign Het
Wrn T G 8: 33,809,248 (GRCm39) L249F probably benign Het
Zc3h13 TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT TGATGTCCGGGATGTCCGGGATGTCCGGGATGT 14: 75,560,998 (GRCm39) probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp619 G A 7: 39,183,586 (GRCm39) G60R probably benign Het
Zfp623 T A 15: 75,820,308 (GRCm39) H421Q probably damaging Het
Zfp827 A G 8: 79,916,606 (GRCm39) 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
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
R8973:Tmem131l UTSW 3 83,836,039 (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'- GGGACAGCTTAGGTCTTTTCTC -3'
(R):5'- AGGCAGTCATGAGTTTCTCTTC -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- CTCTTCAGATAGTGTCTTGAAAGCAC -3'
Posted On 2018-06-06