Incidental Mutation 'R5636:Tmem215'
ID 440360
Institutional Source Beutler Lab
Gene Symbol Tmem215
Ensembl Gene ENSMUSG00000046593
Gene Name transmembrane protein 215
Synonyms
MMRRC Submission 043287-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5636 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 40472180-40477168 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40474394 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 157 (E157G)
Ref Sequence ENSEMBL: ENSMUSP00000136595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049655] [ENSMUST00000179526]
AlphaFold A7E1Z1
Predicted Effect probably damaging
Transcript: ENSMUST00000049655
AA Change: E157G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052129
Gene: ENSMUSG00000046593
AA Change: E157G

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
low complexity region 168 179 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179526
AA Change: E157G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136595
Gene: ENSMUSG00000046593
AA Change: E157G

DomainStartEndE-ValueType
Pfam:TMEM215 1 235 2.5e-117 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,944,982 (GRCm38) Q448* probably null Het
Abca5 A G 11: 110,301,536 (GRCm38) Y717H probably benign Het
Abcg2 T A 6: 58,672,056 (GRCm38) D295E probably damaging Het
Accsl C T 2: 93,869,025 (GRCm38) E7K probably benign Het
Acvr2b A G 9: 119,428,309 (GRCm38) Y152C probably damaging Het
Akap13 A G 7: 75,704,372 (GRCm38) E1747G probably damaging Het
Arpp19 C T 9: 75,037,933 (GRCm38) probably benign Het
Atp10d A G 5: 72,288,219 (GRCm38) Y74C probably damaging Het
Atp6v0b T C 4: 117,886,385 (GRCm38) probably benign Het
Bms1 C A 6: 118,388,825 (GRCm38) M1133I probably benign Het
Bysl A C 17: 47,602,723 (GRCm38) D259E probably benign Het
Capn1 A T 19: 6,014,442 (GRCm38) V9E probably benign Het
Cdkl2 T C 5: 92,033,742 (GRCm38) I127V probably benign Het
Cyp2c38 G A 19: 39,438,306 (GRCm38) Q184* probably null Het
Cypt12 C T 3: 17,948,585 (GRCm38) R41C probably benign Het
Dnaaf11 A T 15: 66,500,816 (GRCm38) probably null Het
Fat2 T C 11: 55,282,481 (GRCm38) I2469V probably damaging Het
Fbxo38 A G 18: 62,511,018 (GRCm38) V923A possibly damaging Het
Gm13889 A G 2: 93,956,686 (GRCm38) C148R probably damaging Het
Gpd1 A T 15: 99,722,058 (GRCm38) T223S probably benign Het
Hcrtr1 C A 4: 130,130,945 (GRCm38) G383C possibly damaging Het
Hivep1 C T 13: 42,163,456 (GRCm38) P2047S possibly damaging Het
Islr2 T C 9: 58,201,301 (GRCm38) T35A probably benign Het
Lgr6 T C 1: 134,987,078 (GRCm38) D644G probably benign Het
Mdn1 C T 4: 32,695,480 (GRCm38) T1173I probably damaging Het
Mon1a T C 9: 107,901,240 (GRCm38) V221A probably damaging Het
Mrgprb4 A G 7: 48,198,470 (GRCm38) C237R probably benign Het
Myo1b A G 1: 51,797,528 (GRCm38) M264T probably damaging Het
Naxd A G 8: 11,502,676 (GRCm38) N32S probably benign Het
Nlrp12 A T 7: 3,225,294 (GRCm38) L1010Q probably damaging Het
Nos1ap T A 1: 170,349,399 (GRCm38) K145M probably damaging Het
Nuggc A T 14: 65,648,188 (GRCm38) K755* probably null Het
Or2av9 T C 11: 58,490,051 (GRCm38) K235E probably damaging Het
Or9i2 C T 19: 13,838,337 (GRCm38) V279M possibly damaging Het
Pik3ca G A 3: 32,461,560 (GRCm38) R794Q probably damaging Het
Pnp2 A G 14: 50,956,192 (GRCm38) probably null Het
Ric3 G A 7: 109,038,820 (GRCm38) T242I probably damaging Het
Rnf213 G A 11: 119,436,629 (GRCm38) R1814K probably benign Het
Rnf213 A C 11: 119,436,905 (GRCm38) Q1906P probably damaging Het
Rufy2 T A 10: 62,997,954 (GRCm38) I265N probably damaging Het
Scap G T 9: 110,380,594 (GRCm38) G744C probably damaging Het
Serpinb3c T C 1: 107,275,014 (GRCm38) Q88R possibly damaging Het
Sf3b1 T C 1: 54,997,193 (GRCm38) D907G probably damaging Het
Skint8 C A 4: 111,950,193 (GRCm38) L359M probably damaging Het
Slc4a3 C T 1: 75,554,216 (GRCm38) L749F possibly damaging Het
Smtn T G 11: 3,517,829 (GRCm38) probably null Het
Spag9 C A 11: 94,069,012 (GRCm38) D342E probably damaging Het
Sptbn5 G A 2: 120,057,404 (GRCm38) probably benign Het
Stam G T 2: 14,117,427 (GRCm38) M112I probably damaging Het
Tex35 C T 1: 157,100,224 (GRCm38) W125* probably null Het
Traf6 G A 2: 101,696,909 (GRCm38) V335M probably benign Het
Ubr5 T A 15: 37,983,996 (GRCm38) K2302N probably damaging Het
Vmn2r78 A G 7: 86,954,429 (GRCm38) H605R probably damaging Het
Other mutations in Tmem215
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Tmem215 APN 4 40,473,940 (GRCm38) missense possibly damaging 0.75
IGL02380:Tmem215 APN 4 40,474,534 (GRCm38) missense probably benign 0.19
IGL02826:Tmem215 APN 4 40,474,632 (GRCm38) makesense probably null
R1531:Tmem215 UTSW 4 40,473,965 (GRCm38) missense probably damaging 1.00
R4941:Tmem215 UTSW 4 40,474,520 (GRCm38) missense probably damaging 0.97
R6820:Tmem215 UTSW 4 40,473,926 (GRCm38) start codon destroyed probably null 0.88
R7767:Tmem215 UTSW 4 40,474,042 (GRCm38) missense possibly damaging 0.75
R8958:Tmem215 UTSW 4 40,474,376 (GRCm38) missense probably benign 0.03
R9035:Tmem215 UTSW 4 40,473,945 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAAGGAAGTGGTGGAACTCCTG -3'
(R):5'- GGCTCTGGTTGATGTAGCAAC -3'

Sequencing Primer
(F):5'- TGGTGGAACTCCTGAGGAC -3'
(R):5'- CAACAGTATCTGTCATAGGGGCTG -3'
Posted On 2016-11-08