Incidental Mutation 'R4599:Ttc7b'
ID 345464
Institutional Source Beutler Lab
Gene Symbol Ttc7b
Ensembl Gene ENSMUSG00000033530
Gene Name tetratricopeptide repeat domain 7B
Synonyms Ttc7l1
MMRRC Submission 041815-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.353) question?
Stock # R4599 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 100267029-100487085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100466376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 79 (R79C)
Ref Sequence ENSEMBL: ENSMUSP00000152299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062957] [ENSMUST00000223020]
AlphaFold E9Q6P5
Predicted Effect probably damaging
Transcript: ENSMUST00000062957
AA Change: R79C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: R79C

DomainStartEndE-ValueType
TPR 397 430 8.76e-1 SMART
Blast:TPR 471 514 5e-9 BLAST
TPR 515 548 2.77e1 SMART
TPR 549 582 2.01e0 SMART
TPR 696 729 9.7e0 SMART
TPR 730 763 7.98e-4 SMART
TPR 764 797 6.1e0 SMART
TPR 798 831 2.74e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222036
Predicted Effect probably damaging
Transcript: ENSMUST00000223020
AA Change: R79C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223444
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,854,626 (GRCm39) V930A probably benign Het
Ankrd13b T C 11: 77,362,494 (GRCm39) R677G probably benign Het
Apc T A 18: 34,451,040 (GRCm39) Y2611* probably null Het
Apold1 A G 6: 134,961,032 (GRCm39) Y162C probably damaging Het
Atp6v0a4 T C 6: 38,055,737 (GRCm39) I325V probably benign Het
Cab39 A G 1: 85,776,050 (GRCm39) Y249C probably damaging Het
Cd22 T A 7: 30,575,325 (GRCm39) H239L probably damaging Het
Chrna7 A G 7: 62,753,538 (GRCm39) M327T probably damaging Het
Cimip2b T C 4: 43,427,574 (GRCm39) H250R possibly damaging Het
Clock T C 5: 76,383,657 (GRCm39) M499V probably benign Het
Clspn A G 4: 126,475,253 (GRCm39) E1002G probably benign Het
Clta C T 4: 44,012,819 (GRCm39) P10S probably damaging Het
Col5a3 A G 9: 20,685,855 (GRCm39) probably null Het
Coq6 T C 12: 84,408,913 (GRCm39) V30A probably benign Het
Csmd2 G T 4: 127,881,921 (GRCm39) R20L probably benign Het
D430041D05Rik A T 2: 104,038,528 (GRCm39) V1547D probably damaging Het
Dapk1 C T 13: 60,865,861 (GRCm39) P153S probably benign Het
Dock2 T A 11: 34,189,536 (GRCm39) Y1545F probably damaging Het
Dpp6 G T 5: 27,839,546 (GRCm39) G354C probably damaging Het
Dyrk1b T C 7: 27,881,856 (GRCm39) L105P probably damaging Het
Epor A G 9: 21,873,155 (GRCm39) S86P probably benign Het
Gale C A 4: 135,695,148 (GRCm39) S341* probably null Het
Galnt4 T A 10: 98,945,355 (GRCm39) V360E probably damaging Het
Gart A T 16: 91,419,833 (GRCm39) C24* probably null Het
Gcnt2 G T 13: 41,040,966 (GRCm39) V42L probably benign Het
Herc6 A G 6: 57,636,698 (GRCm39) I805V probably benign Het
Ints12 T A 3: 132,804,214 (GRCm39) I67N probably benign Het
Irx1 C A 13: 72,108,232 (GRCm39) R150L probably damaging Het
Kif26b A G 1: 178,358,024 (GRCm39) Y45C unknown Het
Krt35 T C 11: 99,984,834 (GRCm39) T275A probably damaging Het
Laptm5 G T 4: 130,643,316 (GRCm39) probably benign Het
Lin7a T C 10: 107,248,027 (GRCm39) S111P unknown Het
Med27 A G 2: 29,414,470 (GRCm39) D159G probably damaging Het
Msh2 A G 17: 88,016,006 (GRCm39) K546R probably damaging Het
Myo1a A T 10: 127,556,020 (GRCm39) probably null Het
Myo1c T C 11: 75,559,019 (GRCm39) F604L probably damaging Het
Myrip A G 9: 120,293,850 (GRCm39) K782E probably damaging Het
Ndc80 T C 17: 71,828,063 (GRCm39) D88G probably damaging Het
Nrxn2 A G 19: 6,505,282 (GRCm39) D375G probably damaging Het
Or2y10 T C 11: 49,455,545 (GRCm39) S266P probably damaging Het
Or52e7 A G 7: 104,685,280 (GRCm39) I292V probably benign Het
Padi3 T C 4: 140,525,422 (GRCm39) H187R probably damaging Het
Pcdhgb1 A T 18: 37,814,610 (GRCm39) N367I probably damaging Het
Pdrg1 T C 2: 152,854,310 (GRCm39) I77V probably benign Het
Pfas T C 11: 68,881,895 (GRCm39) E930G probably benign Het
Pik3cb C T 9: 98,943,817 (GRCm39) R662Q probably benign Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Plxnd1 A T 6: 115,971,237 (GRCm39) V177E probably damaging Het
Prmt7 A G 8: 106,976,961 (GRCm39) S558G possibly damaging Het
Pspc1 A C 14: 57,015,246 (GRCm39) probably null Het
Rilp T C 11: 75,403,586 (GRCm39) S343P probably benign Het
Ror1 A G 4: 100,265,107 (GRCm39) M194V probably damaging Het
Rsu1 T C 2: 13,174,815 (GRCm39) Y225C probably damaging Het
Rundc1 A G 11: 101,324,752 (GRCm39) N486S probably damaging Het
Sema6d T A 2: 124,496,151 (GRCm39) I65N probably damaging Het
Slc5a11 A G 7: 122,857,601 (GRCm39) E230G probably benign Het
Spint1 T C 2: 119,076,941 (GRCm39) S342P probably damaging Het
Stard3nl A G 13: 19,551,923 (GRCm39) S214P probably damaging Het
Tcp10a A C 17: 7,604,323 (GRCm39) T271P probably damaging Het
Tie1 A G 4: 118,329,831 (GRCm39) Y1091H probably benign Het
Tlr12 T C 4: 128,511,125 (GRCm39) Y375C probably benign Het
Tmem107 T A 11: 68,962,274 (GRCm39) M77K probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tns3 T C 11: 8,481,747 (GRCm39) K202E probably damaging Het
Tspoap1 C T 11: 87,670,347 (GRCm39) P1634L probably damaging Het
Ush2a A G 1: 188,643,844 (GRCm39) N4402S probably benign Het
Vmn2r13 A T 5: 109,304,322 (GRCm39) I703N probably damaging Het
Xrcc4 A G 13: 90,210,126 (GRCm39) probably null Het
Zp3 A T 5: 136,013,089 (GRCm39) K168* probably null Het
Other mutations in Ttc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Ttc7b APN 12 100,342,472 (GRCm39) missense probably benign 0.03
IGL01377:Ttc7b APN 12 100,321,371 (GRCm39) missense probably benign 0.21
IGL01617:Ttc7b APN 12 100,352,215 (GRCm39) missense possibly damaging 0.94
IGL02928:Ttc7b APN 12 100,369,674 (GRCm39) missense probably damaging 1.00
IGL03183:Ttc7b APN 12 100,339,968 (GRCm39) splice site probably null
IGL03341:Ttc7b APN 12 100,291,994 (GRCm39) missense possibly damaging 0.66
R0302:Ttc7b UTSW 12 100,353,438 (GRCm39) missense possibly damaging 0.94
R0620:Ttc7b UTSW 12 100,466,332 (GRCm39) splice site probably null
R0625:Ttc7b UTSW 12 100,321,305 (GRCm39) missense probably benign 0.04
R1016:Ttc7b UTSW 12 100,369,617 (GRCm39) missense probably null 1.00
R1131:Ttc7b UTSW 12 100,348,378 (GRCm39) critical splice donor site probably null
R1241:Ttc7b UTSW 12 100,369,698 (GRCm39) missense possibly damaging 0.90
R1710:Ttc7b UTSW 12 100,369,667 (GRCm39) missense probably damaging 0.98
R1803:Ttc7b UTSW 12 100,373,261 (GRCm39) missense possibly damaging 0.94
R1887:Ttc7b UTSW 12 100,381,389 (GRCm39) splice site probably null
R1920:Ttc7b UTSW 12 100,381,389 (GRCm39) splice site probably null
R1921:Ttc7b UTSW 12 100,381,389 (GRCm39) splice site probably null
R1922:Ttc7b UTSW 12 100,381,389 (GRCm39) splice site probably null
R2062:Ttc7b UTSW 12 100,291,948 (GRCm39) missense probably damaging 1.00
R2239:Ttc7b UTSW 12 100,321,260 (GRCm39) critical splice donor site probably null
R2380:Ttc7b UTSW 12 100,321,260 (GRCm39) critical splice donor site probably null
R4581:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4582:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4598:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4600:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4601:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4779:Ttc7b UTSW 12 100,369,621 (GRCm39) missense probably damaging 1.00
R5027:Ttc7b UTSW 12 100,268,001 (GRCm39) missense probably damaging 1.00
R5244:Ttc7b UTSW 12 100,314,269 (GRCm39) missense probably damaging 0.99
R5387:Ttc7b UTSW 12 100,413,222 (GRCm39) missense possibly damaging 0.64
R5739:Ttc7b UTSW 12 100,350,492 (GRCm39) missense probably damaging 1.00
R5997:Ttc7b UTSW 12 100,339,819 (GRCm39) missense probably damaging 0.96
R6223:Ttc7b UTSW 12 100,353,368 (GRCm39) critical splice donor site probably null
R6238:Ttc7b UTSW 12 100,461,681 (GRCm39) missense probably benign 0.31
R6318:Ttc7b UTSW 12 100,291,936 (GRCm39) missense probably damaging 0.99
R6494:Ttc7b UTSW 12 100,461,666 (GRCm39) missense possibly damaging 0.73
R7153:Ttc7b UTSW 12 100,321,293 (GRCm39) missense probably damaging 1.00
R8084:Ttc7b UTSW 12 100,350,432 (GRCm39) missense probably damaging 1.00
R8132:Ttc7b UTSW 12 100,413,131 (GRCm39) missense probably damaging 0.99
R8364:Ttc7b UTSW 12 100,291,817 (GRCm39) missense probably benign 0.40
R8536:Ttc7b UTSW 12 100,339,803 (GRCm39) missense possibly damaging 0.56
R8719:Ttc7b UTSW 12 100,267,812 (GRCm39) missense probably damaging 0.99
R8932:Ttc7b UTSW 12 100,268,022 (GRCm39) missense probably benign 0.00
R8992:Ttc7b UTSW 12 100,466,433 (GRCm39) missense probably benign
R9674:Ttc7b UTSW 12 100,432,553 (GRCm39) missense probably benign 0.24
R9731:Ttc7b UTSW 12 100,461,683 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- ATACACTGATCAGGCAGGGC -3'
(R):5'- ACCCGGAAGCTTAGTGCATG -3'

Sequencing Primer
(F):5'- CGTGTGCCTGCTAAAGAAGACAC -3'
(R):5'- GAGGTGCTCAGGGCTTTCC -3'
Posted On 2015-09-25