Incidental Mutation 'R7389:Tspan18'
ID573296
Institutional Source Beutler Lab
Gene Symbol Tspan18
Ensembl Gene ENSMUSG00000027217
Gene Nametetraspanin 18
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7389 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location93201760-93334505 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93209927 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 161 (V161E)
Ref Sequence ENSEMBL: ENSMUSP00000028646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028646] [ENSMUST00000111265]
Predicted Effect probably benign
Transcript: ENSMUST00000028646
AA Change: V161E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028646
Gene: ENSMUSG00000027217
AA Change: V161E

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 247 1.8e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111265
AA Change: V161E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217
AA Change: V161E

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 247 3.3e-50 PFAM
Meta Mutation Damage Score 0.1837 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C A 14: 25,872,888 P182Q probably damaging Het
Asns C A 6: 7,689,291 L70F probably damaging Het
Cd163l1 A G 7: 140,228,791 K872E possibly damaging Het
Cntrl A T 2: 35,127,517 K445N probably benign Het
Cyp2c50 G T 19: 40,090,663 R150L probably benign Het
Dqx1 G T 6: 83,064,794 S539I probably null Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 73,640,611 probably benign Het
Epha3 T C 16: 63,772,984 E247G probably damaging Het
Etl4 C T 2: 20,785,093 Q801* probably null Het
Fabp2 G T 3: 122,895,365 probably benign Het
Fsip2 G A 2: 82,988,796 V4958I possibly damaging Het
Fstl3 G A 10: 79,780,031 C117Y probably damaging Het
Hdgfl2 T G 17: 56,099,389 probably null Het
Igfn1 T C 1: 135,967,047 D1927G probably benign Het
Ino80 A C 2: 119,442,529 S489A probably benign Het
Krt15 A T 11: 100,135,560 V100E possibly damaging Het
Lrriq3 A G 3: 155,188,104 T481A probably benign Het
Map2k3 A T 11: 60,932,036 probably benign Het
Matr3 A G 18: 35,584,585 T617A probably benign Het
Mybpc2 T G 7: 44,505,604 T960P probably benign Het
Ncoa2 T C 1: 13,186,825 N150S possibly damaging Het
Nup153 A T 13: 46,700,987 probably null Het
Obscn A G 11: 59,036,400 L5498P probably benign Het
Olfr111 A G 17: 37,530,657 R227G possibly damaging Het
Olfr1444 G T 19: 12,862,617 V281L probably benign Het
Paqr8 C A 1: 20,935,165 P181Q probably damaging Het
Pcdhgb4 T C 18: 37,722,363 Y604H probably damaging Het
Pja2 T A 17: 64,297,727 E487V probably damaging Het
Pnpla6 C T 8: 3,543,981 R1331* probably null Het
Ppl T A 16: 5,106,713 probably null Het
Rhbdl3 T A 11: 80,346,839 M299K possibly damaging Het
Slc26a9 A G 1: 131,769,248 *791W probably null Het
Slc7a2 A G 8: 40,912,515 Y461C probably benign Het
Sptb G T 12: 76,624,229 Q447K probably damaging Het
Ssh1 A T 5: 113,958,831 I205N probably benign Het
Stab1 C T 14: 31,147,239 V1511I probably benign Het
Tex19.1 T C 11: 121,147,160 W115R possibly damaging Het
Tinf2 G T 14: 55,680,710 probably null Het
Tmeff1 A G 4: 48,617,097 probably null Het
Tnip2 G T 5: 34,513,801 Q33K probably benign Het
Traf3 C A 12: 111,237,753 L59M probably damaging Het
Trav14d-3-dv8 T C 14: 53,078,871 Y63H possibly damaging Het
Trim11 C T 11: 58,990,655 S458L probably damaging Het
Usf3 T A 16: 44,217,941 V928E probably benign Het
Usp29 G A 7: 6,963,458 V767I possibly damaging Het
Usp34 T G 11: 23,345,200 F287L Het
Vmn1r213 T C 13: 23,012,386 C380R probably benign Het
Zfyve9 A G 4: 108,693,318 probably null Het
Other mutations in Tspan18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Tspan18 APN 2 93210853 missense probably damaging 1.00
IGL02897:Tspan18 APN 2 93220173 missense possibly damaging 0.92
R2513:Tspan18 UTSW 2 93220095 missense possibly damaging 0.81
R3826:Tspan18 UTSW 2 93220108 missense probably benign 0.00
R3827:Tspan18 UTSW 2 93220108 missense probably benign 0.00
R3830:Tspan18 UTSW 2 93220108 missense probably benign 0.00
R4114:Tspan18 UTSW 2 93311946 critical splice donor site probably null
R4697:Tspan18 UTSW 2 93312030 splice site probably null
R5468:Tspan18 UTSW 2 93209862 missense probably benign
R6358:Tspan18 UTSW 2 93209874 missense probably benign 0.17
R6707:Tspan18 UTSW 2 93209957 missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- ATTGTTTACAAAGCTCCAGCCC -3'
(R):5'- GAAGCTCAGGAACACAGGTC -3'

Sequencing Primer
(F):5'- CCAGCTTTGCCCATATTTGAGAAGTG -3'
(R):5'- GGTCATTACCGCAGTCATATGCAG -3'
Posted On2019-09-13