Incidental Mutation 'IGL02390:Tbc1d13'
ID294248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d13
Ensembl Gene ENSMUSG00000039678
Gene NameTBC1 domain family, member 13
Synonyms2600014A06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #IGL02390
Quality Score
Status
Chromosome2
Chromosomal Location30133746-30152013 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 30137387 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044556] [ENSMUST00000131261] [ENSMUST00000136183]
Predicted Effect probably benign
Transcript: ENSMUST00000044556
SMART Domains Protein: ENSMUSP00000048426
Gene: ENSMUSG00000039678

DomainStartEndE-ValueType
TBC 32 370 4.18e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129789
Predicted Effect probably benign
Transcript: ENSMUST00000131261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134013
Predicted Effect probably benign
Transcript: ENSMUST00000136183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150879
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik T C 7: 34,248,218 D455G probably damaging Het
Abca5 T C 11: 110,296,551 K894R probably benign Het
Ampd1 C T 3: 103,079,041 A12V probably benign Het
Ano4 T A 10: 89,024,981 D345V possibly damaging Het
Arl6 A G 16: 59,621,217 probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atrn C T 2: 131,020,977 P1326S possibly damaging Het
Btbd9 A G 17: 30,524,814 V238A probably benign Het
Cdh16 T C 8: 104,621,974 T141A probably damaging Het
Cetn4 T C 3: 37,309,156 D102G probably damaging Het
Col5a3 T A 9: 20,776,996 N1256I unknown Het
Cyfip2 A G 11: 46,221,398 F993L possibly damaging Het
Dcaf6 T A 1: 165,422,921 I125F possibly damaging Het
Dclk2 A C 3: 86,824,683 S336A probably damaging Het
Dnah8 G A 17: 30,830,845 V4327I probably benign Het
Ebna1bp2 T C 4: 118,621,497 V59A possibly damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
F2 A T 2: 91,632,987 V184D possibly damaging Het
Fbxo38 C T 18: 62,533,589 R171H probably damaging Het
Fhod3 A C 18: 25,066,275 S668R probably benign Het
Fkbp10 T A 11: 100,416,017 F78L probably damaging Het
Gm13083 T A 4: 143,615,325 M108K probably benign Het
Hyi C T 4: 118,362,613 R254C probably benign Het
Igfl3 A T 7: 18,181,734 probably benign Het
Lgals9 T A 11: 78,963,535 I308F probably damaging Het
Lrrc8a C A 2: 30,256,701 P509Q probably damaging Het
Mapkap1 T A 2: 34,432,089 N6K probably damaging Het
Mdh1b T A 1: 63,721,557 H115L probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mrpl15 T C 1: 4,785,614 S22G probably benign Het
Nf1 T A 11: 79,411,676 probably benign Het
Nf1 T C 11: 79,565,935 Y616H possibly damaging Het
Olfr107 A T 17: 37,406,095 L182F probably benign Het
Olfr1312 A T 2: 112,042,711 V107E possibly damaging Het
Olfr270 T A 4: 52,971,263 I214N probably damaging Het
Olig1 C A 16: 91,270,153 Q93K probably damaging Het
Otoa C A 7: 121,131,367 L597M possibly damaging Het
Parp16 C T 9: 65,233,769 P207L possibly damaging Het
Pbrm1 T A 14: 31,032,510 D162E probably benign Het
Prdm10 A G 9: 31,353,389 I658V possibly damaging Het
Psg21 A T 7: 18,652,631 H143Q probably benign Het
Rfx4 C T 10: 84,840,150 R28W probably damaging Het
Sart1 T G 19: 5,380,461 M753L possibly damaging Het
Smcr8 T A 11: 60,779,722 D565E probably benign Het
Smyd4 T A 11: 75,387,506 probably null Het
Sned1 T C 1: 93,261,664 V274A probably benign Het
Tox A T 4: 6,697,534 I423N possibly damaging Het
Tsc2 A T 17: 24,600,453 V1232D probably damaging Het
Uckl1 C T 2: 181,574,419 V178I possibly damaging Het
Usp13 T A 3: 32,931,716 Y175* probably null Het
Vwde A G 6: 13,190,685 V469A probably damaging Het
Other mutations in Tbc1d13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Tbc1d13 APN 2 30140511 missense probably damaging 1.00
IGL03182:Tbc1d13 APN 2 30147367 missense probably damaging 1.00
IGL03223:Tbc1d13 APN 2 30148636 missense probably damaging 1.00
R0617:Tbc1d13 UTSW 2 30135564 splice site probably benign
R4457:Tbc1d13 UTSW 2 30135438 utr 3 prime probably benign
R5107:Tbc1d13 UTSW 2 30146721 missense probably damaging 1.00
R5184:Tbc1d13 UTSW 2 30142311 missense probably benign 0.38
R5381:Tbc1d13 UTSW 2 30137367 missense probably benign 0.09
R5810:Tbc1d13 UTSW 2 30142368 missense probably benign 0.02
R5853:Tbc1d13 UTSW 2 30137381 missense probably damaging 1.00
R6803:Tbc1d13 UTSW 2 30135510 utr 3 prime probably benign
R8069:Tbc1d13 UTSW 2 30147403 missense probably damaging 1.00
Z1088:Tbc1d13 UTSW 2 30134872 critical splice donor site probably null
Posted On2015-04-16