Incidental Mutation 'IGL02728:Ttc39a'
ID305295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc39a
Ensembl Gene ENSMUSG00000028555
Gene Nametetratricopeptide repeat domain 39A
Synonyms4922503N01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02728
Quality Score
Status
Chromosome4
Chromosomal Location109406623-109444745 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 109442723 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 470 (C470R)
Ref Sequence ENSEMBL: ENSMUSP00000102229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064129] [ENSMUST00000106618]
Predicted Effect probably damaging
Transcript: ENSMUST00000064129
AA Change: C468R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
AA Change: C468R

DomainStartEndE-ValueType
TPR 278 311 7.69e1 SMART
TPR 468 501 6.57e1 SMART
TPR 509 542 1.42e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106618
AA Change: C470R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
AA Change: C470R

DomainStartEndE-ValueType
TPR 280 313 7.69e1 SMART
TPR 470 503 6.57e1 SMART
TPR 511 544 1.42e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,191,827 probably benign Het
Als2 A G 1: 59,196,347 V726A probably benign Het
Apba1 G A 19: 23,944,905 G779E possibly damaging Het
Atr T A 9: 95,936,475 V2167E probably damaging Het
Bod1l T C 5: 41,826,503 K566E probably damaging Het
Btd T C 14: 31,667,362 F347L probably benign Het
Btg2 T C 1: 134,078,905 probably benign Het
Cblb T A 16: 52,183,309 S717T probably benign Het
Cep250 T A 2: 155,983,278 probably benign Het
Cep350 T C 1: 155,953,222 N312S probably benign Het
Clasp1 A T 1: 118,602,377 T1490S probably damaging Het
Col7a1 T A 9: 108,984,104 C2906S probably benign Het
Csmd1 C T 8: 15,999,779 probably null Het
Cspg4 T A 9: 56,886,481 V500E probably damaging Het
Cyp7b1 T A 3: 18,072,575 D469V probably damaging Het
Dhh A T 15: 98,894,311 probably null Het
Dhrs3 A G 4: 144,920,072 R231G probably damaging Het
Disp3 A G 4: 148,272,038 S122P probably damaging Het
Dnah1 T C 14: 31,283,998 I2275V probably benign Het
Dock8 A C 19: 25,132,220 N922T probably benign Het
Eef1d A G 15: 75,903,096 L154P probably damaging Het
Eif4ebp1 C A 8: 27,273,482 P101Q possibly damaging Het
Eif4g1 T G 16: 20,686,752 probably benign Het
Emb A G 13: 117,232,765 M50V probably benign Het
Eml4 T C 17: 83,473,139 probably null Het
Fkbp10 G T 11: 100,415,977 R65L probably damaging Het
Gm10436 G T 12: 88,176,022 H275Q probably benign Het
Gm5878 T C 6: 85,118,592 N83S probably benign Het
Gm8165 C T 14: 43,676,237 A57T unknown Het
Gpr179 A G 11: 97,337,900 V1143A probably damaging Het
Hat1 T C 2: 71,421,260 Y218H probably damaging Het
Hfm1 T A 5: 106,878,823 N885I probably benign Het
Inha T C 1: 75,509,447 S129P probably damaging Het
Ints9 T C 14: 64,993,008 I128T probably damaging Het
Klra9 T C 6: 130,191,186 probably null Het
Lrba A G 3: 86,776,049 E2726G probably damaging Het
Lrp1b T C 2: 40,801,398 N3356D probably benign Het
Map3k5 A G 10: 20,118,292 D1008G possibly damaging Het
Med4 T A 14: 73,517,975 L241Q possibly damaging Het
Mtch1 A G 17: 29,338,742 V254A possibly damaging Het
Napg C T 18: 62,994,304 probably benign Het
Olfr173 C T 16: 58,797,480 R122H probably benign Het
Olfr339 T C 2: 36,422,144 S249P possibly damaging Het
Olfr823 T A 10: 130,112,618 R57S probably damaging Het
Olfr853 A G 9: 19,537,846 F28S possibly damaging Het
Olfr924 T C 9: 38,848,926 S271P probably damaging Het
Pias1 T A 9: 62,923,644 S161C probably damaging Het
Pias1 G T 9: 62,923,645 N160K possibly damaging Het
Pigp G A 16: 94,367,607 P37S probably damaging Het
Pik3c2b T A 1: 133,092,327 V1070E probably benign Het
Prepl T C 17: 85,070,582 T457A probably damaging Het
Psg23 G A 7: 18,606,928 A467V probably benign Het
Rad54l T C 4: 116,122,949 R13G probably benign Het
Rassf5 T C 1: 131,180,599 D248G probably damaging Het
Rspo1 A G 4: 125,005,162 N92S probably damaging Het
Scube1 G A 15: 83,659,016 probably benign Het
Sec31b C A 19: 44,523,115 V616F probably damaging Het
Sema3a T C 5: 13,565,914 V435A probably damaging Het
Slc7a10 T A 7: 35,197,698 I208N probably damaging Het
Stab2 A T 10: 86,856,556 M2151K possibly damaging Het
Tacc1 T C 8: 25,175,219 D50G probably damaging Het
Tas2r121 G T 6: 132,700,517 T164N probably damaging Het
Tatdn2 T C 6: 113,704,715 W570R probably damaging Het
Telo2 A T 17: 25,104,654 F600I probably damaging Het
Trim36 T A 18: 46,172,602 H426L probably benign Het
Trpm6 A T 19: 18,809,652 N531Y possibly damaging Het
Ttc30a1 T A 2: 75,980,849 M297L probably benign Het
Ttn C T 2: 76,784,939 E8485K probably damaging Het
Ubr4 A T 4: 139,468,811 I1253F probably damaging Het
Unc79 A T 12: 103,122,429 H1724L possibly damaging Het
Vmn1r40 T A 6: 89,715,016 C89S probably benign Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Ttc39a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Ttc39a APN 4 109442345 splice site probably benign
IGL01143:Ttc39a APN 4 109442813 critical splice donor site probably null
IGL01802:Ttc39a APN 4 109433084 nonsense probably null
IGL01906:Ttc39a APN 4 109421394 missense probably benign 0.04
IGL02115:Ttc39a APN 4 109426294 splice site probably benign
IGL02415:Ttc39a APN 4 109431529 unclassified probably benign
IGL02658:Ttc39a APN 4 109422893 missense probably damaging 1.00
IGL03281:Ttc39a APN 4 109433022 missense possibly damaging 0.84
R0030:Ttc39a UTSW 4 109422973 missense probably benign
R0103:Ttc39a UTSW 4 109421453 intron probably null
R0194:Ttc39a UTSW 4 109444179 missense probably benign
R0561:Ttc39a UTSW 4 109440602 missense probably damaging 1.00
R0603:Ttc39a UTSW 4 109426302 missense probably damaging 1.00
R2132:Ttc39a UTSW 4 109442706 missense probably damaging 1.00
R2203:Ttc39a UTSW 4 109431588 missense probably benign 0.19
R2473:Ttc39a UTSW 4 109442239 missense probably damaging 0.97
R4449:Ttc39a UTSW 4 109442303 missense possibly damaging 0.82
R4809:Ttc39a UTSW 4 109416021 nonsense probably null
R5266:Ttc39a UTSW 4 109422504 missense probably benign 0.04
R5590:Ttc39a UTSW 4 109432987 critical splice acceptor site probably null
R5911:Ttc39a UTSW 4 109422971 missense possibly damaging 0.79
R5930:Ttc39a UTSW 4 109430878 missense probably benign
R7058:Ttc39a UTSW 4 109431566 missense probably damaging 1.00
X0013:Ttc39a UTSW 4 109433137 missense probably benign 0.02
Posted On2015-04-16