Incidental Mutation 'R6215:Tmem116'
ID 503655
Institutional Source Beutler Lab
Gene Symbol Tmem116
Ensembl Gene ENSMUSG00000029452
Gene Name transmembrane protein 116
Synonyms C030022K24Rik, 4930406A18Rik, 4930513P12Rik
MMRRC Submission 044348-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6215 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 121590643-121656601 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121629171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 188 (T188M)
Ref Sequence ENSEMBL: ENSMUSP00000091917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031405] [ENSMUST00000060004] [ENSMUST00000094357] [ENSMUST00000111795] [ENSMUST00000149966] [ENSMUST00000156080]
AlphaFold G3X9M9
Predicted Effect probably benign
Transcript: ENSMUST00000031405
AA Change: T153M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031405
Gene: ENSMUSG00000029452
AA Change: T153M

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
transmembrane domain 65 84 N/A INTRINSIC
transmembrane domain 105 127 N/A INTRINSIC
transmembrane domain 170 192 N/A INTRINSIC
transmembrane domain 225 242 N/A INTRINSIC
transmembrane domain 257 279 N/A INTRINSIC
low complexity region 311 326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000060004
AA Change: T33M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000054232
Gene: ENSMUSG00000029452
AA Change: T33M

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 105 122 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
low complexity region 191 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094357
AA Change: T188M

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000091917
Gene: ENSMUSG00000029452
AA Change: T188M

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
transmembrane domain 94 116 N/A INTRINSIC
transmembrane domain 140 162 N/A INTRINSIC
transmembrane domain 205 227 N/A INTRINSIC
transmembrane domain 260 277 N/A INTRINSIC
transmembrane domain 292 314 N/A INTRINSIC
low complexity region 346 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111795
AA Change: T33M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452
AA Change: T33M

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124247
SMART Domains Protein: ENSMUSP00000134334
Gene: ENSMUSG00000029452

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149966
AA Change: T33M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116328
Gene: ENSMUSG00000029452
AA Change: T33M

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 105 123 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000150805
AA Change: T224M
Predicted Effect probably benign
Transcript: ENSMUST00000156080
AA Change: T33M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000121579
Gene: ENSMUSG00000029452
AA Change: T33M

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
transmembrane domain 94 116 N/A INTRINSIC
transmembrane domain 140 162 N/A INTRINSIC
transmembrane domain 205 227 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 95% (42/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,727,713 (GRCm39) W309* probably null Het
Aox1 G A 1: 58,124,620 (GRCm39) V954I probably benign Het
Asnsd1 A C 1: 53,387,187 (GRCm39) probably null Het
Aste1 A G 9: 105,274,056 (GRCm39) K38E probably damaging Het
Catsperg1 A G 7: 28,899,664 (GRCm39) V339A probably damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cd79b C A 11: 106,203,267 (GRCm39) probably null Het
Cemip2 C A 19: 21,789,751 (GRCm39) N650K probably benign Het
Chd3 A G 11: 69,247,380 (GRCm39) L981P probably damaging Het
Chia1 T C 3: 106,029,761 (GRCm39) F132L probably damaging Het
Dhx9 G A 1: 153,348,209 (GRCm39) P336S probably damaging Het
Dido1 T C 2: 180,303,945 (GRCm39) K1320E probably damaging Het
Dmbt1 G T 7: 130,668,463 (GRCm39) C573F possibly damaging Het
Dmtn A G 14: 70,850,776 (GRCm39) I205T probably benign Het
Efnb3 C A 11: 69,447,591 (GRCm39) V181L probably benign Het
Flg2 G T 3: 93,109,166 (GRCm39) C398F possibly damaging Het
Gabbr1 A G 17: 37,380,257 (GRCm39) D604G probably damaging Het
Glis2 T A 16: 4,428,197 (GRCm39) L83* probably null Het
Gm10719 T A 9: 3,019,040 (GRCm39) probably null Homo
Hipk3 T C 2: 104,264,086 (GRCm39) D804G probably damaging Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Kcnj13 A G 1: 87,314,256 (GRCm39) V322A probably benign Het
Nav3 A G 10: 109,688,426 (GRCm39) L617P probably damaging Het
Npc1 ACAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAG 18: 12,369,249 (GRCm39) probably benign Het
Or8b3b A G 9: 38,584,510 (GRCm39) S90P probably benign Het
Osgin1 G A 8: 120,172,183 (GRCm39) V326I probably benign Het
Pcsk7 A C 9: 45,821,674 (GRCm39) N156T possibly damaging Het
Pde4d C T 13: 110,085,967 (GRCm39) S515L probably damaging Het
Peg10 GC GCCCC 6: 4,756,452 (GRCm39) probably benign Het
Ppp2r5a T A 1: 191,094,447 (GRCm39) Q191L probably benign Het
Prom2 A G 2: 127,381,695 (GRCm39) probably null Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Scn3a T C 2: 65,325,380 (GRCm39) I1046V probably benign Het
Sh3glb2 T C 2: 30,235,805 (GRCm39) E313G possibly damaging Het
Slc13a1 A T 6: 24,090,795 (GRCm39) Y541* probably null Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Spata31h1 T A 10: 82,126,946 (GRCm39) K2021N probably benign Het
Speer1d C T 5: 11,307,197 (GRCm39) T25I probably damaging Het
Tm6sf2 T C 8: 70,525,724 (GRCm39) V27A possibly damaging Het
Trim21 A G 7: 102,208,646 (GRCm39) S358P probably damaging Het
Ttc21a A G 9: 119,795,838 (GRCm39) Y1224C probably damaging Het
Ttn T A 2: 76,710,552 (GRCm39) probably benign Het
Vmn2r99 A G 17: 19,602,820 (GRCm39) Q525R probably benign Het
Other mutations in Tmem116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Tmem116 APN 5 121,601,862 (GRCm39) missense probably benign 0.05
IGL02711:Tmem116 APN 5 121,625,804 (GRCm39) splice site probably benign
R0008:Tmem116 UTSW 5 121,633,159 (GRCm39) missense probably damaging 1.00
R0131:Tmem116 UTSW 5 121,631,845 (GRCm39) splice site probably benign
R1163:Tmem116 UTSW 5 121,631,819 (GRCm39) missense probably damaging 1.00
R1490:Tmem116 UTSW 5 121,633,174 (GRCm39) missense probably damaging 1.00
R2019:Tmem116 UTSW 5 121,627,317 (GRCm39) missense possibly damaging 0.85
R6007:Tmem116 UTSW 5 121,655,955 (GRCm39) makesense probably null
R6216:Tmem116 UTSW 5 121,629,171 (GRCm39) missense probably benign 0.02
R6221:Tmem116 UTSW 5 121,629,171 (GRCm39) missense probably benign 0.02
R6222:Tmem116 UTSW 5 121,629,171 (GRCm39) missense probably benign 0.02
R6980:Tmem116 UTSW 5 121,606,050 (GRCm39) critical splice donor site probably null
R7055:Tmem116 UTSW 5 121,605,987 (GRCm39) missense probably damaging 1.00
R7248:Tmem116 UTSW 5 121,601,899 (GRCm39) splice site probably null
R7268:Tmem116 UTSW 5 121,605,918 (GRCm39) missense
R7485:Tmem116 UTSW 5 121,633,124 (GRCm39) missense
R7655:Tmem116 UTSW 5 121,590,252 (GRCm39) critical splice donor site probably null
R7656:Tmem116 UTSW 5 121,590,252 (GRCm39) critical splice donor site probably null
R8737:Tmem116 UTSW 5 121,620,433 (GRCm39) missense
R9084:Tmem116 UTSW 5 121,627,387 (GRCm39) missense
R9168:Tmem116 UTSW 5 121,605,975 (GRCm39) missense
X0024:Tmem116 UTSW 5 121,620,457 (GRCm39) missense probably damaging 0.97
Predicted Primers
Posted On 2018-02-27