Incidental Mutation 'IGL03189:Ttc26'
ID412576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc26
Ensembl Gene ENSMUSG00000056832
Gene Nametetratricopeptide repeat domain 26
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.597) question?
Stock #IGL03189
Quality Score
Status
Chromosome6
Chromosomal Location38381469-38427647 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 38425231 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 553 (P553S)
Ref Sequence ENSEMBL: ENSMUSP00000124369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159145] [ENSMUST00000162554]
Predicted Effect probably benign
Transcript: ENSMUST00000159145
SMART Domains Protein: ENSMUSP00000124873
Gene: ENSMUSG00000056832

DomainStartEndE-ValueType
low complexity region 19 29 N/A INTRINSIC
Pfam:TPR_2 58 88 1.2e-5 PFAM
Pfam:TPR_8 58 91 1.7e-3 PFAM
Pfam:TPR_1 61 87 4.6e-4 PFAM
Pfam:TPR_11 63 113 4.9e-11 PFAM
Pfam:TPR_19 67 113 3.1e-7 PFAM
Pfam:TPR_8 89 113 2e-3 PFAM
Pfam:TPR_1 91 113 1.7e-4 PFAM
Pfam:TPR_2 91 113 2.4e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162554
AA Change: P553S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124369
Gene: ENSMUSG00000056832
AA Change: P553S

DomainStartEndE-ValueType
low complexity region 19 29 N/A INTRINSIC
Pfam:TPR_2 58 88 2.7e-5 PFAM
Pfam:TPR_11 63 117 9e-9 PFAM
Pfam:TPR_9 157 227 9.2e-4 PFAM
Blast:TPR 359 392 9e-10 BLAST
Blast:TPR 461 494 8e-15 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous nonsense mutation exhibit partial prenatal lethality, a hopping gait, preaxial polydactyly, male sterility due to lack of sperm flagella, impaired hearing, and patterning defects that are typical of impaired Hedgehog signaling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bfar A G 16: 13,687,501 D125G possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Cenpm A G 15: 82,234,433 V160A possibly damaging Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hdgf A G 3: 87,913,428 T62A possibly damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Izumo1 A G 7: 45,625,164 D181G probably damaging Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mfsd14a T C 3: 116,641,855 D187G probably benign Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Otud7b G A 3: 96,155,478 S678N probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Snx30 T C 4: 59,857,452 I55T probably benign Het
Spata13 T C 14: 60,691,614 I207T possibly damaging Het
Suco T C 1: 161,857,337 probably benign Het
Svs2 A G 2: 164,237,112 S292P possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Ttc26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Ttc26 APN 6 38382220 splice site probably benign
IGL02049:Ttc26 APN 6 38425132 missense probably benign 0.16
IGL02403:Ttc26 APN 6 38409438 missense possibly damaging 0.95
IGL02902:Ttc26 APN 6 38425162 missense probably benign 0.21
IGL03410:Ttc26 APN 6 38385500 missense probably damaging 1.00
R0346:Ttc26 UTSW 6 38409435 missense probably damaging 1.00
R0562:Ttc26 UTSW 6 38401129 missense probably damaging 1.00
R0826:Ttc26 UTSW 6 38425114 splice site probably null
R1212:Ttc26 UTSW 6 38410793 missense probably damaging 1.00
R1778:Ttc26 UTSW 6 38409476 missense possibly damaging 0.93
R1972:Ttc26 UTSW 6 38410803 missense probably benign 0.20
R2903:Ttc26 UTSW 6 38401102 missense possibly damaging 0.61
R2904:Ttc26 UTSW 6 38401102 missense possibly damaging 0.61
R2905:Ttc26 UTSW 6 38401102 missense possibly damaging 0.61
R3788:Ttc26 UTSW 6 38403524 critical splice donor site probably null
R4222:Ttc26 UTSW 6 38395075 missense probably damaging 1.00
R4392:Ttc26 UTSW 6 38381557 start gained probably benign
R4930:Ttc26 UTSW 6 38391540 missense probably damaging 1.00
R5484:Ttc26 UTSW 6 38389122 missense probably benign 0.10
R5920:Ttc26 UTSW 6 38412070 missense probably damaging 1.00
R6229:Ttc26 UTSW 6 38395040 missense probably benign 0.22
R6429:Ttc26 UTSW 6 38398313 missense possibly damaging 0.69
R6901:Ttc26 UTSW 6 38401144 missense possibly damaging 0.80
R7448:Ttc26 UTSW 6 38404487 nonsense probably null
R7554:Ttc26 UTSW 6 38385500 missense probably null 1.00
R7650:Ttc26 UTSW 6 38395040 missense probably benign 0.22
R8319:Ttc26 UTSW 6 38405945 missense probably damaging 0.98
X0066:Ttc26 UTSW 6 38405942 missense probably benign 0.00
Posted On2016-08-02