Incidental Mutation 'R8381:Ttc17'
ID 646931
Institutional Source Beutler Lab
Gene Symbol Ttc17
Ensembl Gene ENSMUSG00000027194
Gene Name tetratricopeptide repeat domain 17
Synonyms D2Bwg1005e, 9130020K17Rik
MMRRC Submission 067748-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.556) question?
Stock # R8381 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 94131112-94237034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94132166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 598 (L598P)
Ref Sequence ENSEMBL: ENSMUSP00000061360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055081] [ENSMUST00000111237] [ENSMUST00000111238]
AlphaFold E9PVB5
Predicted Effect probably damaging
Transcript: ENSMUST00000055081
AA Change: L598P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194
AA Change: L598P

DomainStartEndE-ValueType
TPR 46 79 1.33e1 SMART
Blast:TPR 82 115 3e-10 BLAST
TPR 116 149 4.91e-4 SMART
low complexity region 326 344 N/A INTRINSIC
TPR 499 532 2.43e1 SMART
TPR 535 568 6.75e1 SMART
TPR 569 602 6.84e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111237
AA Change: L1114P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: L1114P

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
Blast:TPR 225 258 8e-11 BLAST
low complexity region 275 293 N/A INTRINSIC
TPR 295 328 1.39e-3 SMART
TPR 619 652 1.33e1 SMART
Blast:TPR 655 688 4e-10 BLAST
TPR 689 722 4.91e-4 SMART
low complexity region 842 860 N/A INTRINSIC
TPR 1015 1048 2.43e1 SMART
TPR 1051 1084 6.75e1 SMART
TPR 1085 1118 6.84e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111238
AA Change: L1171P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: L1171P

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
internal_repeat_2 113 271 8.31e-15 PROSPERO
low complexity region 275 293 N/A INTRINSIC
TPR 295 328 1.39e-3 SMART
coiled coil region 340 382 N/A INTRINSIC
TPR 619 652 1.33e1 SMART
Blast:TPR 655 688 4e-10 BLAST
TPR 689 722 4.91e-4 SMART
low complexity region 899 917 N/A INTRINSIC
TPR 1072 1105 2.43e1 SMART
TPR 1108 1141 6.75e1 SMART
TPR 1142 1175 6.84e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik C T 3: 137,879,282 (GRCm39) probably null Het
Actrt3 A G 3: 30,651,985 (GRCm39) *370R probably null Het
Adam34 A G 8: 44,104,847 (GRCm39) I266T possibly damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Celsr2 T C 3: 108,302,952 (GRCm39) N2507S probably damaging Het
E2f8 T C 7: 48,527,710 (GRCm39) D144G probably damaging Het
Eif4enif1 T C 11: 3,177,470 (GRCm39) S346P probably damaging Het
Fbln5 A G 12: 101,728,114 (GRCm39) F270S probably benign Het
Fnip2 T A 3: 79,373,000 (GRCm39) D1026V probably damaging Het
Fubp3 G A 2: 31,482,509 (GRCm39) probably null Het
Gjb6 T C 14: 57,361,919 (GRCm39) E114G probably benign Het
Gpr160 A G 3: 30,949,930 (GRCm39) M1V probably null Het
Hey2 A G 10: 30,709,986 (GRCm39) S256P probably damaging Het
Hnrnpll A T 17: 80,337,920 (GRCm39) H590Q probably damaging Het
Ice2 T A 9: 69,317,453 (GRCm39) H192Q probably damaging Het
Ighv1-20 T A 12: 114,687,501 (GRCm39) Q81L probably benign Het
Ighv5-2 T A 12: 113,542,325 (GRCm39) H51L probably benign Het
Jkampl A T 6: 73,445,895 (GRCm39) V218E probably damaging Het
Kif27 T C 13: 58,438,991 (GRCm39) D1190G probably benign Het
Klk1b1 C T 7: 43,619,767 (GRCm39) R109C possibly damaging Het
Mettl14 A G 3: 123,168,447 (GRCm39) Y198H probably damaging Het
Nlrp6 C T 7: 140,503,754 (GRCm39) A620V possibly damaging Het
Obsl1 G T 1: 75,480,501 (GRCm39) F374L possibly damaging Het
Or51b6 T C 7: 103,556,146 (GRCm39) F164L Het
Or5h22 A G 16: 58,895,225 (GRCm39) S73P probably damaging Het
Or8h10 T C 2: 86,808,373 (GRCm39) I256V probably benign Het
Pcbp4 G A 9: 106,338,488 (GRCm39) A138T probably damaging Het
Pramel52-ps C T 5: 94,531,881 (GRCm39) T255I probably damaging Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Robo3 T A 9: 37,341,056 (GRCm39) D72V probably damaging Het
Slc16a5 A G 11: 115,360,716 (GRCm39) S300G probably benign Het
Smg6 C T 11: 74,822,566 (GRCm39) R670W probably damaging Het
Smok3c C T 5: 138,063,824 (GRCm39) T437I probably benign Het
Stk36 A G 1: 74,672,333 (GRCm39) I931V probably benign Het
Syk T C 13: 52,787,085 (GRCm39) Y383H probably benign Het
Tacc2 T A 7: 130,225,972 (GRCm39) S886T probably benign Het
Top1 A G 2: 160,545,594 (GRCm39) M321V probably null Het
Xdh T G 17: 74,219,456 (GRCm39) I648L probably benign Het
Zfhx4 A C 3: 5,447,676 (GRCm39) K1126T probably benign Het
Zfp729b T C 13: 67,739,617 (GRCm39) T883A possibly damaging Het
Other mutations in Ttc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ttc17 APN 2 94,153,428 (GRCm39) splice site probably benign
IGL00870:Ttc17 APN 2 94,202,078 (GRCm39) splice site probably null
IGL01120:Ttc17 APN 2 94,202,141 (GRCm39) missense probably damaging 1.00
IGL01845:Ttc17 APN 2 94,163,177 (GRCm39) nonsense probably null
IGL01895:Ttc17 APN 2 94,205,491 (GRCm39) missense possibly damaging 0.80
IGL02064:Ttc17 APN 2 94,161,012 (GRCm39) missense probably damaging 1.00
IGL02296:Ttc17 APN 2 94,208,055 (GRCm39) missense probably damaging 1.00
IGL02309:Ttc17 APN 2 94,173,006 (GRCm39) missense probably benign
IGL02456:Ttc17 APN 2 94,193,130 (GRCm39) splice site probably benign
IGL02475:Ttc17 APN 2 94,194,721 (GRCm39) missense probably damaging 1.00
IGL03341:Ttc17 APN 2 94,205,566 (GRCm39) missense probably damaging 1.00
IGL03371:Ttc17 APN 2 94,216,450 (GRCm39) missense probably damaging 1.00
R0389:Ttc17 UTSW 2 94,208,439 (GRCm39) missense probably benign 0.03
R0443:Ttc17 UTSW 2 94,208,439 (GRCm39) missense probably benign 0.03
R0511:Ttc17 UTSW 2 94,153,465 (GRCm39) missense possibly damaging 0.87
R0763:Ttc17 UTSW 2 94,163,148 (GRCm39) missense probably benign 0.08
R1980:Ttc17 UTSW 2 94,157,049 (GRCm39) missense probably benign 0.14
R1981:Ttc17 UTSW 2 94,157,049 (GRCm39) missense probably benign 0.14
R1987:Ttc17 UTSW 2 94,194,690 (GRCm39) missense probably benign
R2064:Ttc17 UTSW 2 94,196,892 (GRCm39) missense probably damaging 1.00
R2147:Ttc17 UTSW 2 94,132,139 (GRCm39) missense possibly damaging 0.87
R2155:Ttc17 UTSW 2 94,196,987 (GRCm39) missense possibly damaging 0.88
R2844:Ttc17 UTSW 2 94,206,419 (GRCm39) nonsense probably null
R3719:Ttc17 UTSW 2 94,194,672 (GRCm39) missense probably benign 0.27
R3852:Ttc17 UTSW 2 94,199,758 (GRCm39) missense possibly damaging 0.86
R3947:Ttc17 UTSW 2 94,206,491 (GRCm39) splice site probably benign
R4411:Ttc17 UTSW 2 94,173,098 (GRCm39) missense probably damaging 0.97
R4461:Ttc17 UTSW 2 94,196,916 (GRCm39) missense probably benign 0.02
R4660:Ttc17 UTSW 2 94,194,774 (GRCm39) missense possibly damaging 0.51
R4762:Ttc17 UTSW 2 94,202,113 (GRCm39) missense probably damaging 1.00
R4818:Ttc17 UTSW 2 94,163,236 (GRCm39) missense possibly damaging 0.91
R4819:Ttc17 UTSW 2 94,194,955 (GRCm39) missense probably damaging 1.00
R4864:Ttc17 UTSW 2 94,196,980 (GRCm39) missense probably benign 0.01
R4870:Ttc17 UTSW 2 94,196,954 (GRCm39) missense probably damaging 1.00
R5203:Ttc17 UTSW 2 94,209,061 (GRCm39) missense probably damaging 1.00
R5288:Ttc17 UTSW 2 94,133,985 (GRCm39) missense probably damaging 1.00
R5385:Ttc17 UTSW 2 94,133,985 (GRCm39) missense probably damaging 1.00
R5386:Ttc17 UTSW 2 94,133,985 (GRCm39) missense probably damaging 1.00
R5453:Ttc17 UTSW 2 94,133,905 (GRCm39) missense probably damaging 1.00
R5583:Ttc17 UTSW 2 94,208,027 (GRCm39) missense probably damaging 1.00
R5683:Ttc17 UTSW 2 94,192,866 (GRCm39) missense probably damaging 1.00
R5921:Ttc17 UTSW 2 94,209,193 (GRCm39) missense probably damaging 1.00
R6272:Ttc17 UTSW 2 94,189,100 (GRCm39) missense probably damaging 1.00
R6444:Ttc17 UTSW 2 94,133,891 (GRCm39) missense possibly damaging 0.57
R6748:Ttc17 UTSW 2 94,216,447 (GRCm39) missense probably benign 0.02
R7204:Ttc17 UTSW 2 94,192,773 (GRCm39) missense possibly damaging 0.95
R7300:Ttc17 UTSW 2 94,205,479 (GRCm39) missense probably damaging 1.00
R7446:Ttc17 UTSW 2 94,205,495 (GRCm39) missense probably damaging 0.97
R7680:Ttc17 UTSW 2 94,196,889 (GRCm39) missense probably benign 0.06
R7912:Ttc17 UTSW 2 94,209,166 (GRCm39) missense probably damaging 1.00
R8083:Ttc17 UTSW 2 94,204,909 (GRCm39) missense probably damaging 1.00
R8304:Ttc17 UTSW 2 94,199,526 (GRCm39) intron probably benign
R8512:Ttc17 UTSW 2 94,202,108 (GRCm39) missense probably damaging 1.00
R8737:Ttc17 UTSW 2 94,206,374 (GRCm39) critical splice donor site probably null
R8850:Ttc17 UTSW 2 94,237,003 (GRCm39) missense possibly damaging 0.55
R8886:Ttc17 UTSW 2 94,205,473 (GRCm39) missense probably benign 0.19
R8888:Ttc17 UTSW 2 94,157,049 (GRCm39) missense probably benign 0.14
R8891:Ttc17 UTSW 2 94,192,764 (GRCm39) missense probably damaging 1.00
R9336:Ttc17 UTSW 2 94,189,198 (GRCm39) missense probably benign 0.00
R9600:Ttc17 UTSW 2 94,204,890 (GRCm39) missense probably damaging 1.00
R9632:Ttc17 UTSW 2 94,209,097 (GRCm39) missense probably damaging 1.00
R9642:Ttc17 UTSW 2 94,194,735 (GRCm39) missense probably benign 0.00
R9657:Ttc17 UTSW 2 94,237,010 (GRCm39) start codon destroyed probably benign 0.02
X0013:Ttc17 UTSW 2 94,161,015 (GRCm39) missense probably damaging 1.00
X0018:Ttc17 UTSW 2 94,209,061 (GRCm39) missense probably damaging 1.00
X0025:Ttc17 UTSW 2 94,154,861 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- ACATCATCCATGCGGGTACC -3'
(R):5'- GTCTATGTGCTCAGCCACTG -3'

Sequencing Primer
(F):5'- CAGCAGTGGTGGGGCTCTG -3'
(R):5'- CTGCCCTTGGGATGAAACATACTG -3'
Posted On 2020-09-02