Incidental Mutation 'IGL02227:Thoc5'
ID285609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thoc5
Ensembl Gene ENSMUSG00000034274
Gene NameTHO complex 5
Synonyms1700060C24Rik, PK1.3, A430085L24Rik, Fmip
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02227
Quality Score
Status
Chromosome11
Chromosomal Location4895320-4928867 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 4926217 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 609 (M609L)
Ref Sequence ENSEMBL: ENSMUSP00000099137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038237] [ENSMUST00000101615]
Predicted Effect probably benign
Transcript: ENSMUST00000038237
AA Change: M657L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: M657L

DomainStartEndE-ValueType
Pfam:FimP 97 452 1.1e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101615
AA Change: M609L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: M609L

DomainStartEndE-ValueType
low complexity region 34 41 N/A INTRINSIC
Pfam:FimP 48 405 7.5e-142 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E5.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,982,950 N152D possibly damaging Het
Acsl1 A G 8: 46,534,365 E662G probably benign Het
Acss3 A G 10: 107,045,335 S262P probably benign Het
Agap1 T C 1: 89,663,775 V263A probably damaging Het
Ap3b2 A G 7: 81,473,404 L454P probably damaging Het
Arrdc1 A T 2: 24,926,152 F280I possibly damaging Het
Atp8b1 G T 18: 64,562,190 H485N probably benign Het
Atrip A G 9: 109,061,664 S91P possibly damaging Het
Bcorl1 T C X: 48,369,360 V590A probably benign Het
Brf1 C A 12: 112,961,774 R590S probably damaging Het
Ccdc18 A T 5: 108,148,922 D197V possibly damaging Het
Ccr6 T C 17: 8,256,452 V163A probably damaging Het
Cct6b T C 11: 82,741,391 E257G probably damaging Het
Cdc42bpa A G 1: 180,094,424 D564G possibly damaging Het
Cdh2 C T 18: 16,629,586 V434I probably benign Het
Cltc C T 11: 86,697,340 V1610M possibly damaging Het
Cnot4 A G 6: 35,051,263 F473L probably benign Het
Dock3 T C 9: 107,062,055 K165E probably damaging Het
Duox2 A T 2: 122,285,153 probably benign Het
Epha7 A G 4: 28,821,587 S251G possibly damaging Het
Epn1 T A 7: 5,095,036 V282E probably benign Het
Fat1 T C 8: 45,023,659 L1914P probably damaging Het
Fbln2 T C 6: 91,256,367 I611T possibly damaging Het
Fgd6 G T 10: 94,134,084 M1198I probably damaging Het
Frmpd4 T A X: 167,492,935 I379F probably damaging Het
Gm6614 A T 6: 141,993,675 C197* probably null Het
Grk4 T A 5: 34,694,782 D123E probably benign Het
Hc T G 2: 35,009,911 probably benign Het
Hephl1 T C 9: 15,069,793 Y781C probably damaging Het
Hfe T C 13: 23,706,943 E71G probably benign Het
Hk1 A G 10: 62,281,140 probably benign Het
Ifnk G A 4: 35,152,642 probably benign Het
Kcnv1 C A 15: 45,114,274 G123C probably damaging Het
Kdelc2 T C 9: 53,388,479 L96S probably damaging Het
Klhl38 A T 15: 58,323,237 I32N possibly damaging Het
Lpl T C 8: 68,895,800 V227A probably damaging Het
Lurap1l A T 4: 80,953,857 S196C probably damaging Het
Mta1 T C 12: 113,120,908 L91P possibly damaging Het
Nelfe C A 17: 34,854,354 D288E probably benign Het
Olfr491 T A 7: 108,317,201 C102* probably null Het
Otof T C 5: 30,370,784 E1905G probably damaging Het
Pck2 T C 14: 55,543,866 I148T probably benign Het
Plcl2 G T 17: 50,606,397 V145F probably damaging Het
Plec A G 15: 76,172,274 S4510P probably damaging Het
Plxna2 A G 1: 194,752,089 E641G probably damaging Het
Ppp1r12a C T 10: 108,269,324 T434M probably damaging Het
Ppp6r3 A T 19: 3,518,245 N184K possibly damaging Het
Prkar1a G A 11: 109,660,175 probably benign Het
Psmb1 A T 17: 15,490,284 M1K probably null Het
Pwwp2a T C 11: 43,705,621 S538P possibly damaging Het
Rbm25 C T 12: 83,672,753 R516W probably damaging Het
Rnf103 A G 6: 71,510,188 D601G probably benign Het
Senp3 A G 11: 69,674,530 V467A possibly damaging Het
Slc8a3 T G 12: 81,315,683 T121P probably damaging Het
Srrt G A 5: 137,296,274 T790M probably damaging Het
Ssc5d T C 7: 4,933,454 probably null Het
Tas2r129 G A 6: 132,951,394 W98* probably null Het
Tnip1 G A 11: 54,936,471 T155M possibly damaging Het
Ttn A G 2: 76,788,328 V14458A probably benign Het
Unc5cl A G 17: 48,459,781 E61G probably benign Het
Usp32 T C 11: 84,986,481 K151E probably damaging Het
Vmn2r121 T C X: 124,132,681 M260V probably benign Het
Vwa7 G T 17: 35,020,084 R345L probably damaging Het
Zfp366 G T 13: 99,234,188 R472L possibly damaging Het
Zfp811 A T 17: 32,798,642 Y141* probably null Het
Zpbp C T 11: 11,415,248 E200K probably benign Het
Other mutations in Thoc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Thoc5 APN 11 4918147 missense probably damaging 0.96
IGL02039:Thoc5 APN 11 4922027 critical splice donor site probably null
IGL02970:Thoc5 APN 11 4904201 missense probably damaging 0.99
R0398:Thoc5 UTSW 11 4921978 missense possibly damaging 0.84
R0401:Thoc5 UTSW 11 4902213 utr 5 prime probably benign
R0453:Thoc5 UTSW 11 4918217 missense possibly damaging 0.60
R1223:Thoc5 UTSW 11 4921922 missense probably benign 0.40
R1438:Thoc5 UTSW 11 4911427 splice site probably benign
R1661:Thoc5 UTSW 11 4919792 missense probably benign 0.04
R1665:Thoc5 UTSW 11 4919792 missense probably benign 0.04
R1776:Thoc5 UTSW 11 4914517 splice site probably benign
R1830:Thoc5 UTSW 11 4914608 missense probably benign 0.02
R1912:Thoc5 UTSW 11 4915561 missense probably benign 0.15
R3001:Thoc5 UTSW 11 4928688 missense probably benign
R3002:Thoc5 UTSW 11 4928688 missense probably benign
R3783:Thoc5 UTSW 11 4920372 unclassified probably benign
R4534:Thoc5 UTSW 11 4924807 nonsense probably null
R4619:Thoc5 UTSW 11 4926218 missense probably damaging 0.96
R4747:Thoc5 UTSW 11 4904187 missense probably damaging 0.99
R5106:Thoc5 UTSW 11 4910630 missense probably damaging 1.00
R5310:Thoc5 UTSW 11 4910648 missense probably damaging 1.00
R5914:Thoc5 UTSW 11 4920416 missense possibly damaging 0.58
R5936:Thoc5 UTSW 11 4904133 missense probably damaging 1.00
R6167:Thoc5 UTSW 11 4915497 missense probably benign 0.12
R6209:Thoc5 UTSW 11 4905697 missense probably damaging 1.00
R6243:Thoc5 UTSW 11 4919753 missense possibly damaging 0.59
R6504:Thoc5 UTSW 11 4924815 nonsense probably null
R6833:Thoc5 UTSW 11 4919804 missense probably damaging 1.00
R6874:Thoc5 UTSW 11 4901261 missense probably damaging 1.00
R7048:Thoc5 UTSW 11 4926237 critical splice donor site probably null
R7197:Thoc5 UTSW 11 4915563 missense probably benign 0.01
R7753:Thoc5 UTSW 11 4902156 missense probably damaging 0.99
R7828:Thoc5 UTSW 11 4902306 start gained probably benign
Posted On2015-04-16