Incidental Mutation 'R3953:Tmem131l'
ID 308028
Institutional Source Beutler Lab
Gene Symbol Tmem131l
Ensembl Gene ENSMUSG00000033767
Gene Name transmembrane 131 like
Synonyms D930015E06Rik
MMRRC Submission 040830-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R3953 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 83804962-83947482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 83817726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 1257 (C1257F)
Ref Sequence ENSEMBL: ENSMUSP00000141607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052342] [ENSMUST00000191758] [ENSMUST00000192095]
AlphaFold Q3U3D7
Predicted Effect probably damaging
Transcript: ENSMUST00000052342
AA Change: C1257F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: C1257F

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: C1258F

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: C1258F

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: C1257F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: C1257F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199411
Meta Mutation Damage Score 0.1453 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Adgrf1 A G 17: 43,621,098 (GRCm39) N445S probably benign Het
Aldh7a1 C A 18: 56,681,577 (GRCm39) V198L probably damaging Het
Ank2 A T 3: 126,781,809 (GRCm39) D6E probably damaging Het
Arhgap31 A G 16: 38,423,826 (GRCm39) F747L probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cadps T C 14: 12,505,937 (GRCm38) D711G probably damaging Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Cyp4f18 C T 8: 72,754,801 (GRCm39) R148H probably damaging Het
Dennd4a C A 9: 64,759,857 (GRCm39) P321T probably damaging Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dipk1b C T 2: 26,525,579 (GRCm39) P171L probably benign Het
Dnah2 G A 11: 69,344,929 (GRCm39) T2715M probably damaging Het
Evc2 T C 5: 37,537,931 (GRCm39) probably null Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Gucy1a2 T C 9: 3,582,704 (GRCm39) probably benign Het
Gys1 C T 7: 45,089,470 (GRCm39) P274S probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Herc1 C T 9: 66,341,075 (GRCm39) Q1731* probably null Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lnx1 T C 5: 74,766,750 (GRCm39) T455A probably benign Het
Mast2 A T 4: 116,170,926 (GRCm39) H612Q probably damaging Het
Mcm9 G A 10: 53,439,440 (GRCm39) H578Y probably damaging Het
Mefv A G 16: 3,533,264 (GRCm39) S336P possibly damaging Het
Micu1 A T 10: 59,586,326 (GRCm39) H134L probably benign Het
Mrgprb2 C T 7: 48,202,116 (GRCm39) G203D possibly damaging Het
Ncapd2 T C 6: 125,147,697 (GRCm39) I1179V probably damaging Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5b119 G A 19: 13,456,806 (GRCm39) S252L probably benign Het
Pcnx3 A G 19: 5,733,808 (GRCm39) probably benign Het
Pi4ka A G 16: 17,103,145 (GRCm39) probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptprb A G 10: 116,177,399 (GRCm39) N1320S probably benign Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rhobtb2 T C 14: 70,031,488 (GRCm39) T546A possibly damaging Het
Robo1 A G 16: 72,821,226 (GRCm39) D1331G probably damaging Het
Sgcz A G 8: 37,993,346 (GRCm39) probably benign Het
Slc26a1 T C 5: 108,821,448 (GRCm39) D147G possibly damaging Het
Slc44a5 A G 3: 153,877,209 (GRCm39) D13G probably benign Het
Slco1a1 A T 6: 141,868,833 (GRCm39) M377K probably damaging Het
St18 T A 1: 6,873,117 (GRCm39) L284Q probably damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tec T C 5: 72,939,520 (GRCm39) probably null Het
Tln2 G A 9: 67,277,911 (GRCm39) P368S probably damaging Het
Tmf1 C A 6: 97,153,167 (GRCm39) R302L probably damaging Het
Tnip3 A T 6: 65,574,379 (GRCm39) T137S possibly damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Vps13d A G 4: 144,875,450 (GRCm39) S1686P probably damaging Het
Wdr41 A G 13: 95,133,571 (GRCm39) E75G probably damaging 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
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
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'- AAGGGCATGTGCTTTCTGATC -3'
(R):5'- ACATCTTTTAGGGACTTGGGGC -3'

Sequencing Primer
(F):5'- GGGCATGTGCTTTCTGATCTAACC -3'
(R):5'- CTCCCACAGGACTGAGAGAG -3'
Posted On 2015-04-17