Incidental Mutation 'IGL02541:Ttc39d'
ID298238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc39d
Ensembl Gene ENSMUSG00000046196
Gene Nametetratricopeptide repeat domain 39D
Synonyms4930560E09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #IGL02541
Quality Score
Status
Chromosome17
Chromosomal Location80207460-80217936 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 80216446 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 178 (T178K)
Ref Sequence ENSEMBL: ENSMUSP00000123158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053168] [ENSMUST00000134652]
Predicted Effect probably damaging
Transcript: ENSMUST00000053168
AA Change: T178K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: T178K

DomainStartEndE-ValueType
Pfam:DUF3808 69 522 9.6e-149 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134652
AA Change: T178K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: T178K

DomainStartEndE-ValueType
Pfam:DUF3808 69 522 7.2e-150 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,514,658 L917F possibly damaging Het
Abca6 A T 11: 110,212,267 W833R probably damaging Het
Asb15 T A 6: 24,566,266 V406D probably damaging Het
Bcl9l T C 9: 44,507,769 V968A probably benign Het
Bend7 T C 2: 4,763,305 probably null Het
Cadm2 C A 16: 66,882,883 probably null Het
Cadm2 C A 16: 66,882,882 G21V possibly damaging Het
Camta1 G A 4: 151,084,655 T1191I probably benign Het
Cep152 C T 2: 125,605,354 A425T probably damaging Het
Cep95 C A 11: 106,815,581 Q554K probably damaging Het
Cgref1 A G 5: 30,934,158 probably null Het
Clock T A 5: 76,262,672 probably null Het
Cmc2 A G 8: 116,894,144 F33L probably benign Het
Cnksr3 A G 10: 7,135,073 V258A probably damaging Het
Col6a6 G T 9: 105,732,216 N1624K probably benign Het
Cped1 T C 6: 22,120,989 I356T probably benign Het
Dpy19l2 C T 9: 24,658,647 V337I probably benign Het
E2f3 A T 13: 29,916,844 probably null Het
Eif1ad A G 19: 5,368,417 probably benign Het
Fam114a2 A T 11: 57,499,801 D302E probably benign Het
Fam129c A T 8: 71,602,782 T279S probably benign Het
Fign T C 2: 63,979,537 N463S probably benign Het
Fzr1 T C 10: 81,370,033 T220A probably damaging Het
Gm14496 G A 2: 182,000,393 R619Q probably benign Het
Gm9268 T A 7: 43,023,668 probably benign Het
Gm9966 T C 7: 95,958,784 I104T unknown Het
Itgb7 G T 15: 102,223,457 H230Q probably benign Het
Kif7 T C 7: 79,710,880 H249R possibly damaging Het
Krtap4-2 T G 11: 99,634,966 Q20P unknown Het
Mis18bp1 T C 12: 65,161,460 T160A probably damaging Het
Mpp6 A G 6: 50,183,727 I323V probably benign Het
Mrps9 T C 1: 42,862,654 probably null Het
Mum1 G A 10: 80,228,439 probably null Het
Mynn T A 3: 30,611,603 H461Q probably damaging Het
Naa25 A G 5: 121,424,531 T459A possibly damaging Het
Notch1 C T 2: 26,468,503 D1439N probably benign Het
Olfr701 A G 7: 106,818,602 E173G probably benign Het
Pcdhb3 A T 18: 37,302,145 D388V probably damaging Het
Pold3 C T 7: 100,083,672 G417S probably damaging Het
Rad17 A G 13: 100,633,443 probably benign Het
Sh3glb1 T C 3: 144,720,040 D5G probably damaging Het
Shank3 T A 15: 89,501,410 Y167N probably damaging Het
Slc3a2 A T 19: 8,707,759 Y292* probably null Het
Slc7a13 T A 4: 19,839,212 probably benign Het
Snx18 A T 13: 113,594,766 I564N probably damaging Het
Supt6 G A 11: 78,226,918 R491C probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tnrc6b C A 15: 80,879,831 D511E probably benign Het
Trio A G 15: 27,844,930 probably benign Het
Trmt12 T A 15: 58,873,802 W350R probably benign Het
Ttc1 T C 11: 43,738,821 T173A probably benign Het
Ufl1 T A 4: 25,250,534 E693V possibly damaging Het
Vamp2 G T 11: 69,089,151 E16D unknown Het
Wdr70 C T 15: 7,884,302 W622* probably null Het
Zfp28 C T 7: 6,393,480 Q305* probably null Het
Zfp653 C A 9: 22,055,783 R602L probably damaging Het
Zzef1 T A 11: 72,872,649 V1374E probably damaging Het
Other mutations in Ttc39d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Ttc39d APN 17 80216526 missense probably damaging 0.99
IGL01065:Ttc39d APN 17 80216274 missense probably damaging 0.96
IGL01834:Ttc39d APN 17 80216046 missense probably benign
PIT4687001:Ttc39d UTSW 17 80216925 missense probably damaging 1.00
R0042:Ttc39d UTSW 17 80215950 missense probably benign 0.02
R0042:Ttc39d UTSW 17 80215950 missense probably benign 0.02
R0124:Ttc39d UTSW 17 80216946 missense probably damaging 1.00
R0523:Ttc39d UTSW 17 80216457 missense possibly damaging 0.78
R0801:Ttc39d UTSW 17 80216215 missense probably damaging 1.00
R1581:Ttc39d UTSW 17 80216484 missense probably benign 0.02
R2071:Ttc39d UTSW 17 80216601 missense probably damaging 1.00
R2271:Ttc39d UTSW 17 80217246 missense probably damaging 1.00
R2272:Ttc39d UTSW 17 80217246 missense probably damaging 1.00
R2520:Ttc39d UTSW 17 80216370 missense probably benign 0.17
R2885:Ttc39d UTSW 17 80216715 missense probably benign 0.00
R2939:Ttc39d UTSW 17 80217553 missense probably damaging 1.00
R2940:Ttc39d UTSW 17 80217553 missense probably damaging 1.00
R3081:Ttc39d UTSW 17 80217553 missense probably damaging 1.00
R4669:Ttc39d UTSW 17 80217639 missense probably benign 0.00
R4872:Ttc39d UTSW 17 80217098 missense probably benign 0.00
R4951:Ttc39d UTSW 17 80216033 missense probably benign 0.01
R6260:Ttc39d UTSW 17 80216647 nonsense probably null
R7018:Ttc39d UTSW 17 80216181 missense probably benign 0.06
R7042:Ttc39d UTSW 17 80216462 missense probably benign 0.00
R7468:Ttc39d UTSW 17 80216150 missense possibly damaging 0.96
R7761:Ttc39d UTSW 17 80217312 missense probably damaging 0.98
R7825:Ttc39d UTSW 17 80216146 missense probably damaging 0.99
R7955:Ttc39d UTSW 17 80215923 missense probably benign
R8192:Ttc39d UTSW 17 80216578 missense probably damaging 0.99
R8400:Ttc39d UTSW 17 80216005 missense probably benign 0.15
R8682:Ttc39d UTSW 17 80217264 missense probably benign 0.01
Posted On2015-04-16