Incidental Mutation 'R6209:Thoc5'
ID 503350
Institutional Source Beutler Lab
Gene Symbol Thoc5
Ensembl Gene ENSMUSG00000034274
Gene Name THO complex 5
Synonyms Fmip, PK1.3, 1700060C24Rik, A430085L24Rik
MMRRC Submission 044343-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6209 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 4845339-4878867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4855697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 82 (I82T)
Ref Sequence ENSEMBL: ENSMUSP00000118940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038237] [ENSMUST00000101615] [ENSMUST00000142543]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000038237
AA Change: I219T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: I219T

DomainStartEndE-ValueType
Pfam:FimP 97 452 1.1e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101615
AA Change: I171T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: I171T

DomainStartEndE-ValueType
low complexity region 34 41 N/A INTRINSIC
Pfam:FimP 48 405 7.5e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142543
AA Change: I82T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118940
Gene: ENSMUSG00000034274
AA Change: I82T

DomainStartEndE-ValueType
Pfam:FimP 1 301 1.3e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148117
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T A 1: 38,232,670 (GRCm39) M990L probably benign Het
Agl A T 3: 116,578,845 (GRCm39) Y429* probably null Het
Ahnak A T 19: 8,989,930 (GRCm39) K3738M probably damaging Het
Amn G T 12: 111,241,845 (GRCm39) V304L probably damaging Het
Ap3s1 G A 18: 46,912,318 (GRCm39) V113I probably benign Het
Arhgef28 A T 13: 98,065,917 (GRCm39) probably null Het
Atad2 A G 15: 57,981,811 (GRCm39) S18P probably damaging Het
Bhmt1b C T 18: 87,775,341 (GRCm39) A288V probably damaging Het
C4b T A 17: 34,960,061 (GRCm39) E305V possibly damaging Het
Caskin1 T C 17: 24,726,095 (GRCm39) S1401P possibly damaging Het
Cblc A T 7: 19,519,230 (GRCm39) V366D possibly damaging Het
Cdk17 A T 10: 93,044,093 (GRCm39) T11S probably benign Het
Cenpc1 A G 5: 86,181,509 (GRCm39) S619P probably benign Het
Clec4d T G 6: 123,247,488 (GRCm39) probably null Het
Disp2 T C 2: 118,617,402 (GRCm39) L132P probably damaging Het
Dync2h1 T C 9: 7,165,677 (GRCm39) K528R probably benign Het
Fbxw26 A G 9: 109,547,033 (GRCm39) I464T possibly damaging Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gabbr2 A G 4: 46,804,069 (GRCm39) V262A probably damaging Het
Galnt17 T A 5: 131,110,434 (GRCm39) M302L probably benign Het
Gpn3 T C 5: 122,520,175 (GRCm39) I243T probably benign Het
Gpr160 T C 3: 30,950,141 (GRCm39) V71A possibly damaging Het
Gramd1b G T 9: 40,244,946 (GRCm39) A154D probably damaging Het
Grid2ip G A 5: 143,366,184 (GRCm39) S379N probably damaging Het
H60b C A 10: 22,163,043 (GRCm39) T206N probably benign Het
Hydin A T 8: 111,320,434 (GRCm39) I4493F probably benign Het
Il19 C T 1: 130,866,852 (GRCm39) E43K possibly damaging Het
Ints2 A G 11: 86,115,884 (GRCm39) Y782H probably damaging Het
Itprid1 T A 6: 55,851,306 (GRCm39) I62N probably damaging Het
Jph1 C A 1: 17,167,810 (GRCm39) D7Y probably damaging Het
Lipo2 T C 19: 33,726,852 (GRCm39) I62V probably damaging Het
Map7 G A 10: 20,152,026 (GRCm39) probably null Het
Matk T G 10: 81,095,422 (GRCm39) W81G probably damaging Het
Matn4 T C 2: 164,242,735 (GRCm39) Y121C probably damaging Het
Mical2 G A 7: 111,923,293 (GRCm39) probably null Het
Miga2 T G 2: 30,271,674 (GRCm39) Y399D probably damaging Het
Mocos A T 18: 24,799,672 (GRCm39) E302V probably benign Het
Mrpl11 C T 19: 5,014,743 (GRCm39) A172V probably damaging Het
Mrpl48 A C 7: 100,209,001 (GRCm39) Y108D probably damaging Het
Mtr A G 13: 12,205,278 (GRCm39) S1061P probably benign Het
Myh11 T A 16: 14,026,155 (GRCm39) K1309* probably null Het
Myom2 G A 8: 15,154,173 (GRCm39) V704I possibly damaging Het
Nars2 A G 7: 96,706,728 (GRCm39) H413R probably benign Het
Nckap1 A G 2: 80,355,946 (GRCm39) L619P probably damaging Het
Notch1 T C 2: 26,362,817 (GRCm39) N983S probably damaging Het
Nup210 A G 6: 91,002,337 (GRCm39) V717A probably benign Het
P4ha3 G T 7: 99,966,292 (GRCm39) G479V probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Phf11a A G 14: 59,525,028 (GRCm39) S59P probably damaging Het
Phyhip G A 14: 70,700,798 (GRCm39) S95N probably benign Het
Ppat A G 5: 77,065,993 (GRCm39) V375A probably benign Het
Prkdc A G 16: 15,608,456 (GRCm39) E3086G probably damaging Het
Psg22 A G 7: 18,453,599 (GRCm39) E98G probably damaging Het
Rabgap1 A T 2: 37,453,610 (GRCm39) K1013* probably null Het
Retreg3 C T 11: 101,010,526 (GRCm39) G27D probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sema6a A T 18: 47,431,369 (GRCm39) probably null Het
Septin10 T C 10: 59,006,670 (GRCm39) E349G probably damaging Het
Serpina1c A G 12: 103,863,429 (GRCm39) V257A probably damaging Het
Sgpp2 T A 1: 78,367,119 (GRCm39) M84K probably damaging Het
Shoc1 A G 4: 59,043,869 (GRCm39) *1482R probably null Het
Skint11 A G 4: 114,101,907 (GRCm39) S116G possibly damaging Het
Slc2a5 G A 4: 150,227,557 (GRCm39) V459I probably benign Het
Smarca2 T G 19: 26,748,404 (GRCm39) Y126* probably null Het
Stab2 T G 10: 86,758,867 (GRCm39) N1024H possibly damaging Het
Sting1 A T 18: 35,869,155 (GRCm39) I178N probably damaging Het
Svep1 A C 4: 58,128,869 (GRCm39) F609L probably benign Het
Tbc1d2 G A 4: 46,614,068 (GRCm39) T671I probably damaging Het
Tmem213 G T 6: 38,092,517 (GRCm39) C83F probably damaging Het
Topaz1 G A 9: 122,579,570 (GRCm39) D827N possibly damaging Het
Trappc10 C A 10: 78,050,646 (GRCm39) G265V possibly damaging Het
Ttn A G 2: 76,539,808 (GRCm39) S26066P probably damaging Het
Zfp292 G T 4: 34,809,442 (GRCm39) Q1201K probably benign Het
Zfp354a T A 11: 50,951,815 (GRCm39) probably null Het
Zfp418 T C 7: 7,185,096 (GRCm39) V353A possibly damaging Het
Zfp444 G A 7: 6,192,948 (GRCm39) probably benign Het
Zfp503 C A 14: 22,035,778 (GRCm39) Q379H probably damaging Het
Zfp804a A G 2: 82,088,462 (GRCm39) K764E probably damaging Het
Other mutations in Thoc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Thoc5 APN 11 4,868,147 (GRCm39) missense probably damaging 0.96
IGL02039:Thoc5 APN 11 4,872,027 (GRCm39) critical splice donor site probably null
IGL02227:Thoc5 APN 11 4,876,217 (GRCm39) missense probably benign 0.02
IGL02970:Thoc5 APN 11 4,854,201 (GRCm39) missense probably damaging 0.99
R0398:Thoc5 UTSW 11 4,871,978 (GRCm39) missense possibly damaging 0.84
R0401:Thoc5 UTSW 11 4,852,213 (GRCm39) utr 5 prime probably benign
R0453:Thoc5 UTSW 11 4,868,217 (GRCm39) missense possibly damaging 0.60
R1223:Thoc5 UTSW 11 4,871,922 (GRCm39) missense probably benign 0.40
R1438:Thoc5 UTSW 11 4,861,427 (GRCm39) splice site probably benign
R1661:Thoc5 UTSW 11 4,869,792 (GRCm39) missense probably benign 0.04
R1665:Thoc5 UTSW 11 4,869,792 (GRCm39) missense probably benign 0.04
R1776:Thoc5 UTSW 11 4,864,517 (GRCm39) splice site probably benign
R1830:Thoc5 UTSW 11 4,864,608 (GRCm39) missense probably benign 0.02
R1912:Thoc5 UTSW 11 4,865,561 (GRCm39) missense probably benign 0.15
R3001:Thoc5 UTSW 11 4,878,688 (GRCm39) missense probably benign
R3002:Thoc5 UTSW 11 4,878,688 (GRCm39) missense probably benign
R3783:Thoc5 UTSW 11 4,870,372 (GRCm39) unclassified probably benign
R4534:Thoc5 UTSW 11 4,874,807 (GRCm39) nonsense probably null
R4619:Thoc5 UTSW 11 4,876,218 (GRCm39) missense probably damaging 0.96
R4747:Thoc5 UTSW 11 4,854,187 (GRCm39) missense probably damaging 0.99
R5106:Thoc5 UTSW 11 4,860,630 (GRCm39) missense probably damaging 1.00
R5310:Thoc5 UTSW 11 4,860,648 (GRCm39) missense probably damaging 1.00
R5914:Thoc5 UTSW 11 4,870,416 (GRCm39) missense possibly damaging 0.58
R5936:Thoc5 UTSW 11 4,854,133 (GRCm39) missense probably damaging 1.00
R6167:Thoc5 UTSW 11 4,865,497 (GRCm39) missense probably benign 0.12
R6243:Thoc5 UTSW 11 4,869,753 (GRCm39) missense possibly damaging 0.59
R6504:Thoc5 UTSW 11 4,874,815 (GRCm39) nonsense probably null
R6833:Thoc5 UTSW 11 4,869,804 (GRCm39) missense probably damaging 1.00
R6874:Thoc5 UTSW 11 4,851,261 (GRCm39) missense probably damaging 1.00
R7048:Thoc5 UTSW 11 4,876,237 (GRCm39) critical splice donor site probably null
R7197:Thoc5 UTSW 11 4,865,563 (GRCm39) missense probably benign 0.01
R7753:Thoc5 UTSW 11 4,852,156 (GRCm39) missense probably damaging 0.99
R7828:Thoc5 UTSW 11 4,852,306 (GRCm39) start gained probably benign
R8416:Thoc5 UTSW 11 4,876,068 (GRCm39) missense probably benign 0.41
R8428:Thoc5 UTSW 11 4,876,115 (GRCm39) missense probably damaging 0.99
R8673:Thoc5 UTSW 11 4,876,061 (GRCm39) missense possibly damaging 0.52
R8964:Thoc5 UTSW 11 4,860,647 (GRCm39) missense possibly damaging 0.80
R9214:Thoc5 UTSW 11 4,864,303 (GRCm39) missense probably benign 0.13
R9651:Thoc5 UTSW 11 4,849,883 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- CTAAGAATAATAGTGCTTGTATGGAGC -3'
(R):5'- GTGAAGACCTTGCCAAGTCC -3'

Sequencing Primer
(F):5'- AGCTTACTAAAGGACTTGGCAC -3'
(R):5'- ACAAAGTTCCTCCTCATTAGCC -3'
Posted On 2018-02-27