Incidental Mutation 'IGL01533:Tspan14'
ID89844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan14
Ensembl Gene ENSMUSG00000037824
Gene Nametetraspanin 14
SynonymsTm4sf14, D14Ertd226e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01533
Quality Score
Status
Chromosome14
Chromosomal Location40906445-40966807 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40916819 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 88 (I88T)
Ref Sequence ENSEMBL: ENSMUSP00000153208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047652] [ENSMUST00000224209]
Predicted Effect probably benign
Transcript: ENSMUST00000047652
AA Change: I88T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000035263
Gene: ENSMUSG00000037824
AA Change: I88T

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 261 4.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224209
AA Change: I88T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224349
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C A 18: 67,405,418 E757* probably null Het
Arhgap15 T C 2: 44,243,153 V357A probably damaging Het
Asb13 T C 13: 3,642,164 V48A probably benign Het
Bbs7 T C 3: 36,610,235 R74G possibly damaging Het
Capn11 T C 17: 45,632,904 H568R probably benign Het
Cbx5 T C 15: 103,205,634 E61G probably damaging Het
Ccdc158 T C 5: 92,609,956 probably null Het
Col14a1 C A 15: 55,420,840 N832K unknown Het
Cyp2a4 A T 7: 26,308,544 K125N probably damaging Het
Dhx16 T C 17: 35,882,047 L215P probably damaging Het
Dtx4 T C 19: 12,478,215 M480V possibly damaging Het
Edaradd A G 13: 12,478,582 probably benign Het
Galnt13 T A 2: 54,880,132 M312K probably damaging Het
Gcdh T A 8: 84,889,362 R337W probably damaging Het
Gm28557 A T 13: 67,071,332 C109* probably null Het
Gpr22 C T 12: 31,708,710 probably benign Het
Gria4 T G 9: 4,502,395 L379F probably damaging Het
Gxylt2 T C 6: 100,783,137 L211P probably damaging Het
Igsf10 T A 3: 59,319,230 I2341F probably damaging Het
Macf1 T C 4: 123,473,873 D2365G probably damaging Het
Morc2b A G 17: 33,135,721 probably benign Het
Ncoa3 T C 2: 166,055,025 S579P probably benign Het
Nlgn1 T C 3: 25,436,363 N400S possibly damaging Het
Olfr1141 C A 2: 87,753,068 R308S probably benign Het
Olfr146 C T 9: 39,018,801 A247T probably damaging Het
Pi4ka A G 16: 17,308,201 S1102P probably benign Het
Polr1e A G 4: 45,019,328 Y59C probably damaging Het
Prex2 C T 1: 11,186,741 Q1226* probably null Het
Rab12 A T 17: 66,497,435 I176K probably damaging Het
Ryr2 A T 13: 11,721,790 N2250K probably damaging Het
Sbf1 T C 15: 89,288,716 T1865A probably damaging Het
Sema6b G A 17: 56,129,499 probably benign Het
Smarcb1 C T 10: 75,916,768 probably null Het
Sos1 A G 17: 80,415,082 L845S probably damaging Het
Stat4 T A 1: 52,098,419 N456K probably damaging Het
Tex264 A G 9: 106,673,599 I133T probably benign Het
Thoc1 T C 18: 9,962,376 V87A probably benign Het
Tmem131 C T 1: 36,818,722 D778N probably damaging Het
Ttn C A 2: 76,732,574 V28679L possibly damaging Het
Ttn A G 2: 76,951,941 S984P probably damaging Het
Vangl1 T C 3: 102,163,351 E423G possibly damaging Het
Other mutations in Tspan14
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT1430001:Tspan14 UTSW 14 40915531 missense probably damaging 0.98
R0471:Tspan14 UTSW 14 40915396 missense probably damaging 1.00
R1934:Tspan14 UTSW 14 40934252 missense probably damaging 1.00
R6213:Tspan14 UTSW 14 40913415 missense probably benign 0.03
R6909:Tspan14 UTSW 14 40913441 missense probably benign 0.02
Posted On2013-12-03