Incidental Mutation 'R0526:Thoc7'
Institutional Source Beutler Lab
Gene Symbol Thoc7
Ensembl Gene ENSMUSG00000053453
Gene NameTHO complex 7
MMRRC Submission 038719-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #R0526 (G1)
Quality Score155
Status Not validated
Chromosomal Location13949012-13961852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13949282 bp
Amino Acid Change Methionine to Threonine at position 194 (M194T)
Ref Sequence ENSEMBL: ENSMUSP00000153123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065865] [ENSMUST00000223832] [ENSMUST00000225325] [ENSMUST00000225891]
Predicted Effect probably benign
Transcript: ENSMUST00000065865
AA Change: M198T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065819
Gene: ENSMUSG00000053453
AA Change: M198T

Pfam:THOC7 7 139 9.3e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159275
Predicted Effect probably benign
Transcript: ENSMUST00000223832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225317
Predicted Effect probably benign
Transcript: ENSMUST00000225325
AA Change: M194T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225401
Predicted Effect probably benign
Transcript: ENSMUST00000225559
Predicted Effect probably benign
Transcript: ENSMUST00000225590
Predicted Effect probably benign
Transcript: ENSMUST00000225891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226008
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,455,224 N230I possibly damaging Het
4933427D14Rik G T 11: 72,169,783 Q687K probably damaging Het
Actrt2 A G 4: 154,667,412 L89P probably damaging Het
Adamts1 A C 16: 85,802,372 S113R probably benign Het
Agxt2 G T 15: 10,373,862 C118F probably damaging Het
Akap8 G A 17: 32,317,292 T49I probably benign Het
Alk A T 17: 71,869,753 W1519R probably damaging Het
Atf7ip T A 6: 136,559,805 F12Y probably damaging Het
Atp13a5 A G 16: 29,348,740 C131R probably damaging Het
Atp8b4 A G 2: 126,427,363 L168P probably damaging Het
Blm G T 7: 80,505,893 S346* probably null Het
Ccnt2 T G 1: 127,799,445 C199G probably damaging Het
Cd151 A T 7: 141,470,591 H219L probably damaging Het
Cd200r2 A T 16: 44,915,047 R248S probably damaging Het
Cdh3 A G 8: 106,555,446 D822G possibly damaging Het
Clec4b1 T C 6: 123,069,770 probably null Het
Cluh C A 11: 74,665,986 L951I probably benign Het
Cog7 A T 7: 121,963,271 probably null Het
Col25a1 C A 3: 130,476,394 P197Q probably damaging Het
Csde1 T A 3: 103,056,426 S636R possibly damaging Het
Ect2l C A 10: 18,199,940 C66F possibly damaging Het
Elac2 T C 11: 64,999,436 M671T probably benign Het
Evi5 T C 5: 107,821,748 N143S probably benign Het
Ext2 A G 2: 93,806,085 V228A probably damaging Het
Fbxo38 A G 18: 62,505,980 Y1084H probably damaging Het
Fcgr4 T A 1: 171,029,191 L209Q probably damaging Het
Fgd3 C T 13: 49,296,524 S83N probably benign Het
Gigyf2 T A 1: 87,421,493 M664K probably benign Het
Gm38394 T C 1: 133,658,734 I288M probably damaging Het
Il27ra A T 8: 84,039,499 S219T probably benign Het
Kif15 T C 9: 122,997,797 V800A probably damaging Het
Lmo7 T A 14: 101,900,560 D666E probably damaging Het
Lrp5 T C 19: 3,628,295 D520G probably damaging Het
Lrriq3 T A 3: 155,188,297 M545K probably benign Het
Lsm5 T A 6: 56,703,325 D44V probably damaging Het
Man1c1 G T 4: 134,569,068 Y430* probably null Het
Map4 T A 9: 110,037,278 probably null Het
Megf6 A G 4: 154,258,941 K561R probably benign Het
Myo1e T C 9: 70,322,398 Y173H probably damaging Het
Myo6 T A 9: 80,283,541 S791R possibly damaging Het
Nol11 C A 11: 107,184,771 E144* probably null Het
Ntng2 C T 2: 29,197,062 R416Q probably damaging Het
Nxpe3 T A 16: 55,866,517 I43F possibly damaging Het
Olfr1093 A T 2: 86,786,347 T206S possibly damaging Het
Olfr1284 T A 2: 111,379,492 V164E possibly damaging Het
Pkd1l2 T C 8: 117,082,260 I64V probably damaging Het
Prf1 G A 10: 61,300,254 R103H probably benign Het
Rest A G 5: 77,281,027 D431G probably damaging Het
Serpina10 A T 12: 103,616,868 L439Q probably damaging Het
Sgk3 T G 1: 9,881,579 V176G probably damaging Het
Slc19a3 A G 1: 83,022,733 S188P probably damaging Het
Sorbs1 A G 19: 40,349,948 I336T probably damaging Het
Ssfa2 A G 2: 79,657,346 D591G probably benign Het
Strip1 C T 3: 107,620,039 probably null Het
Syt4 T C 18: 31,443,746 E185G possibly damaging Het
Tcaf3 T A 6: 42,589,804 I784F probably damaging Het
Tgfbr3l G T 8: 4,249,439 R74L possibly damaging Het
Thsd7b T C 1: 129,951,392 Y989H probably damaging Het
Tmem156 C T 5: 65,075,818 V134I probably benign Het
Tnks A T 8: 34,853,303 V738E probably benign Het
Trpm6 A T 19: 18,792,876 I342F probably damaging Het
Vmn2r69 A T 7: 85,411,503 V291D probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 111,480,540 probably benign Het
Wnk1 T C 6: 119,951,992 T1292A probably damaging Het
Yes1 T A 5: 32,655,240 C285S probably benign Het
Zbtb49 T C 5: 38,213,919 N206S probably benign Het
Other mutations in Thoc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Thoc7 APN 14 13953435 missense probably damaging 1.00
IGL02630:Thoc7 APN 14 13953154 missense probably damaging 0.99
IGL02737:Thoc7 APN 14 13953443 missense possibly damaging 0.66
R4917:Thoc7 UTSW 14 13953154 missense probably damaging 0.99
R4918:Thoc7 UTSW 14 13953154 missense probably damaging 0.99
R4960:Thoc7 UTSW 14 13953460 missense probably benign 0.02
R6496:Thoc7 UTSW 14 13954593 missense possibly damaging 0.95
R7024:Thoc7 UTSW 14 13953528 missense probably damaging 0.98
R7500:Thoc7 UTSW 14 13951204 critical splice donor site probably null
R7619:Thoc7 UTSW 14 13961819 start gained probably null
Z1177:Thoc7 UTSW 14 13954585 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2013-06-12