Incidental Mutation 'R9647:Tmem131l'
ID 726775
Institutional Source Beutler Lab
Gene Symbol Tmem131l
Ensembl Gene ENSMUSG00000033767
Gene Name transmembrane 131 like
Synonyms D930015E06Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R9647 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 83804962-83947482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83836018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 697 (Y697C)
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: Y697C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: Y697C

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: Y697C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: Y697C

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: Y697C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: Y697C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,195,310 (GRCm39) R729L probably benign Het
Actr3b T C 5: 26,037,408 (GRCm39) S295P probably benign Het
Alb G A 5: 90,620,544 (GRCm39) probably null Het
Ank2 T A 3: 126,792,623 (GRCm39) N756I possibly damaging Het
Ankar A G 1: 72,689,307 (GRCm39) Y1275H probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Birc6 G A 17: 74,999,305 (GRCm39) V4678M probably damaging Het
Bmpr1a A G 14: 34,136,694 (GRCm39) V499A probably benign Het
Ccdc142 A G 6: 83,079,259 (GRCm39) N199D probably benign Het
Ccdc179 G T 7: 51,663,311 (GRCm39) Y38* probably null Het
Cdhr2 A T 13: 54,867,394 (GRCm39) M438L probably benign Het
Cfap74 A T 4: 155,549,373 (GRCm39) Q78L unknown Het
Crocc A T 4: 140,774,335 (GRCm39) S155T probably benign Het
Depdc5 T A 5: 33,081,567 (GRCm39) H576Q possibly damaging Het
Dhx30 A T 9: 109,922,214 (GRCm39) L156Q probably damaging Het
Dido1 T A 2: 180,315,068 (GRCm39) T795S probably benign Het
Dlx1 T C 2: 71,360,476 (GRCm39) S47P probably benign Het
Dspp G A 5: 104,323,636 (GRCm39) A260T possibly damaging Het
Ephx2 T C 14: 66,326,957 (GRCm39) T413A probably benign Het
Erp44 A C 4: 48,205,166 (GRCm39) L276V probably benign Het
Fastkd5 T A 2: 130,457,729 (GRCm39) Q287L probably damaging Het
Foxh1 T A 15: 76,553,460 (GRCm39) H114L possibly damaging Het
Fry A T 5: 150,292,984 (GRCm39) L410F probably damaging Het
Gamt T A 10: 80,095,672 (GRCm39) H86L probably damaging Het
Gdpd5 G T 7: 99,104,241 (GRCm39) R483L probably benign Het
Gm17067 A C 7: 42,357,569 (GRCm39) V311G probably benign Het
Gpatch2 C T 1: 187,054,542 (GRCm39) T422I probably damaging Het
Gpi1 A G 7: 33,901,879 (GRCm39) I546T probably damaging Het
Gyg1 A C 3: 20,177,007 (GRCm39) S328A probably benign Het
Heatr1 T A 13: 12,441,679 (GRCm39) V1491E probably benign Het
Hrob A T 11: 102,146,586 (GRCm39) Q287H possibly damaging Het
Ildr2 T C 1: 166,137,038 (GRCm39) S626P probably benign Het
Insr T G 8: 3,205,874 (GRCm39) E1305A probably benign Het
Iqca1 T A 1: 89,998,258 (GRCm39) T572S probably benign Het
Kdm4a A T 4: 118,003,790 (GRCm39) M762K probably benign Het
Kdm4a T A 4: 118,017,399 (GRCm39) T556S probably benign Het
Lama1 A G 17: 68,024,170 (GRCm39) I89M Het
Larp7 T C 3: 127,334,211 (GRCm39) K539E probably damaging Het
Mmadhc C A 2: 50,186,482 (GRCm39) probably benign Het
Mmp2 A G 8: 93,567,114 (GRCm39) D478G probably damaging Het
Nat10 T C 2: 103,578,538 (GRCm39) Q222R probably benign Het
Nlgn1 A T 3: 25,488,182 (GRCm39) Y718N probably damaging Het
Nlrp5 A T 7: 23,107,576 (GRCm39) E83V probably benign Het
Odc1 T C 12: 17,598,614 (GRCm39) V218A possibly damaging Het
Or10al4 A T 17: 38,037,796 (GRCm39) I294F probably damaging Het
Or11g26 G C 14: 50,753,552 (GRCm39) R297T probably damaging Het
Or9r3 A G 10: 129,948,029 (GRCm39) I210T probably damaging Het
Oxsr1 G A 9: 119,083,932 (GRCm39) S324F probably damaging Het
Pclo C T 5: 14,731,788 (GRCm39) T304M Het
Pgghg A G 7: 140,526,743 (GRCm39) R687G possibly damaging Het
Plxna4 A G 6: 32,228,044 (GRCm39) S521P probably damaging Het
Rasgrp4 A G 7: 28,839,917 (GRCm39) S172G probably damaging Het
Rora A G 9: 69,255,450 (GRCm39) D78G probably damaging Het
Sec1 G T 7: 45,328,556 (GRCm39) R164S probably benign Het
Sesn3 A G 9: 14,225,999 (GRCm39) N245D probably benign Het
Slc44a5 T A 3: 153,953,370 (GRCm39) W251R possibly damaging Het
Ssr2 T C 3: 88,487,206 (GRCm39) V7A possibly damaging Het
Syne2 A G 12: 76,151,875 (GRCm39) D1912G possibly damaging Het
Tcea2 C A 2: 181,322,984 (GRCm39) T1N probably benign Het
Tmx4 T C 2: 134,481,588 (GRCm39) M112V probably benign Het
Tom1 G T 8: 75,785,495 (GRCm39) A330S probably benign Het
Trip4 A T 9: 65,765,616 (GRCm39) L361* probably null Het
Trmt9b T C 8: 36,979,210 (GRCm39) I271T probably benign Het
Trp73 T G 4: 154,165,788 (GRCm39) T142P probably damaging Het
Trpm5 T A 7: 142,634,498 (GRCm39) D683V possibly damaging Het
Trpm7 T C 2: 126,667,562 (GRCm39) I810V probably damaging Het
Trps1 A T 15: 50,524,944 (GRCm39) S995R probably benign Het
Ttn C A 2: 76,608,269 (GRCm39) E17885* probably null Het
Uggt2 A T 14: 119,256,312 (GRCm39) Y1120N probably damaging Het
Unc13a A T 8: 72,104,882 (GRCm39) N793K probably damaging Het
Vcf1 T C 11: 113,568,146 (GRCm39) D103G probably damaging Het
Vmn2r94 T C 17: 18,463,884 (GRCm39) H802R probably benign Het
Vmn2r-ps158 T C 7: 42,697,171 (GRCm39) C743R probably damaging Het
Zdhhc5 A T 2: 84,524,750 (GRCm39) M190K probably benign Het
Zfp719 A T 7: 43,233,602 (GRCm39) N7I possibly damaging Het
Zfp735 A G 11: 73,580,600 (GRCm39) Y33C probably damaging Het
Zgrf1 C T 3: 127,355,251 (GRCm39) T159I probably benign Het
Zzef1 A T 11: 72,760,651 (GRCm39) T1325S 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
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
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'- GGTGGGACTCTTCTGGGAATATATC -3'
(R):5'- CTACCCTCCATTGGTGAGGATG -3'

Sequencing Primer
(F):5'- GGCTGAGTGAAATATGCTCCC -3'
(R):5'- TCCATTGGTGAGGATGGAGTGAAAC -3'
Posted On 2022-10-06