Incidental Mutation 'IGL03083:Ankrd35'
ID417968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd35
Ensembl Gene ENSMUSG00000038354
Gene Nameankyrin repeat domain 35
Synonyms4732436F15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03083
Quality Score
Status
Chromosome3
Chromosomal Location96670131-96691032 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96684801 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 801 (Q801L)
Ref Sequence ENSEMBL: ENSMUSP00000047244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048427] [ENSMUST00000122960]
Predicted Effect probably damaging
Transcript: ENSMUST00000048427
AA Change: Q801L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: Q801L

DomainStartEndE-ValueType
ANK 53 82 4.03e-5 SMART
ANK 86 115 6.46e-4 SMART
ANK 119 148 4.36e-1 SMART
ANK 152 181 1.4e-4 SMART
ANK 185 214 2.25e-3 SMART
ANK 218 247 6.24e2 SMART
coiled coil region 294 339 N/A INTRINSIC
low complexity region 438 455 N/A INTRINSIC
low complexity region 487 498 N/A INTRINSIC
low complexity region 524 536 N/A INTRINSIC
coiled coil region 606 653 N/A INTRINSIC
coiled coil region 729 799 N/A INTRINSIC
low complexity region 815 829 N/A INTRINSIC
coiled coil region 847 956 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130429
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,138,612 probably null Het
Acadsb A C 7: 131,441,193 probably benign Het
Ankk1 A G 9: 49,421,866 L106P probably benign Het
Ankrd24 G A 10: 81,638,649 A72T probably benign Het
Avil A G 10: 127,016,324 I659M probably benign Het
Ccnc A G 4: 21,742,683 D170G possibly damaging Het
Cfap57 T C 4: 118,584,739 K711E probably damaging Het
Dctn1 T C 6: 83,197,484 probably benign Het
Dpp6 T C 5: 27,709,550 probably null Het
Efhb A T 17: 53,399,059 W817R probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fer1l4 A G 2: 156,039,366 probably benign Het
Fgf8 T C 19: 45,737,228 N137S probably damaging Het
Fndc3b T C 3: 27,467,427 D533G probably benign Het
Fshb A G 2: 107,057,467 V69A probably benign Het
Galnt7 A T 8: 57,526,189 H633Q probably damaging Het
Gm5458 A G 14: 19,602,383 probably null Het
Hfe2 T A 3: 96,528,606 D393E probably benign Het
Hpca A C 4: 129,118,526 F72L probably damaging Het
Inpp5d A T 1: 87,711,141 D552V probably damaging Het
Lepr C T 4: 101,814,679 Q967* probably null Het
Lgr5 A G 10: 115,453,032 V497A probably benign Het
Matr3 A G 18: 35,572,418 K132R probably damaging Het
Mib1 T G 18: 10,752,029 probably null Het
Mios T A 6: 8,215,156 N117K probably damaging Het
Nab1 T C 1: 52,490,270 D156G probably benign Het
Nfxl1 C T 5: 72,540,662 probably benign Het
Nutm2 G A 13: 50,467,444 G15E probably damaging Het
Oca2 A G 7: 56,295,484 H280R probably benign Het
Olfr118 C A 17: 37,672,660 C212* probably null Het
Olfr464 T C 11: 87,914,088 I273V probably benign Het
P2ry1 A G 3: 61,004,315 T292A probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pidd1 A G 7: 141,440,456 probably null Het
Pitpnm2 T C 5: 124,133,382 E376G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2a T C 11: 69,745,046 probably null Het
Sbno2 A T 10: 80,057,534 M1311K probably damaging Het
Senp7 A G 16: 56,171,865 N701S probably benign Het
Sirpa T A 2: 129,629,928 I211N probably damaging Het
Slc9a4 A G 1: 40,629,402 E735G probably benign Het
Sorbs1 C T 19: 40,314,376 M790I probably damaging Het
Sult1e1 T A 5: 87,590,124 M33L probably benign Het
Tapbpl G A 6: 125,228,228 probably null Het
Top1 A G 2: 160,703,578 T289A probably damaging Het
Trim58 T A 11: 58,651,390 M392K probably benign Het
Uaca A G 9: 60,863,663 I371V probably benign Het
Vmn1r54 T C 6: 90,269,872 I256T possibly damaging Het
Wdr19 T C 5: 65,230,976 I668T probably benign Het
Other mutations in Ankrd35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Ankrd35 APN 3 96683034 splice site probably null
IGL00896:Ankrd35 APN 3 96684276 missense probably damaging 1.00
IGL01565:Ankrd35 APN 3 96684785 missense probably damaging 0.99
IGL01837:Ankrd35 APN 3 96680666 missense probably damaging 1.00
IGL02605:Ankrd35 APN 3 96681072 splice site probably null
IGL02819:Ankrd35 APN 3 96690208 missense possibly damaging 0.80
IGL02994:Ankrd35 APN 3 96682991 splice site probably benign
IGL03105:Ankrd35 APN 3 96684057 missense probably benign
FR4304:Ankrd35 UTSW 3 96683847 utr 3 prime probably benign
FR4342:Ankrd35 UTSW 3 96683515 frame shift probably null
FR4737:Ankrd35 UTSW 3 96683849 utr 3 prime probably benign
R0003:Ankrd35 UTSW 3 96684015 missense probably damaging 1.00
R0047:Ankrd35 UTSW 3 96684063 missense probably benign 0.00
R0551:Ankrd35 UTSW 3 96683960 missense probably benign 0.08
R1420:Ankrd35 UTSW 3 96684738 missense probably benign 0.13
R1455:Ankrd35 UTSW 3 96678155 missense probably damaging 1.00
R2201:Ankrd35 UTSW 3 96679248 missense possibly damaging 0.93
R3522:Ankrd35 UTSW 3 96685062 missense probably damaging 1.00
R3605:Ankrd35 UTSW 3 96682181 nonsense probably null
R4166:Ankrd35 UTSW 3 96679155 intron probably null
R4651:Ankrd35 UTSW 3 96684027 missense probably benign 0.00
R4668:Ankrd35 UTSW 3 96679208 missense probably damaging 1.00
R4916:Ankrd35 UTSW 3 96684122 missense probably benign
R4921:Ankrd35 UTSW 3 96684824 missense possibly damaging 0.61
R4953:Ankrd35 UTSW 3 96683673 missense possibly damaging 0.56
R5180:Ankrd35 UTSW 3 96680473 missense probably damaging 1.00
R5583:Ankrd35 UTSW 3 96684903 missense probably damaging 1.00
R5604:Ankrd35 UTSW 3 96684899 missense probably benign 0.02
R5613:Ankrd35 UTSW 3 96683018 missense possibly damaging 0.76
R6165:Ankrd35 UTSW 3 96683307 missense possibly damaging 0.93
R6413:Ankrd35 UTSW 3 96684813 missense probably damaging 0.96
R6711:Ankrd35 UTSW 3 96683468 nonsense probably null
R6834:Ankrd35 UTSW 3 96683283 missense possibly damaging 0.68
R6841:Ankrd35 UTSW 3 96670426 missense probably damaging 1.00
R7028:Ankrd35 UTSW 3 96683334 missense possibly damaging 0.92
R7396:Ankrd35 UTSW 3 96683497 missense probably damaging 1.00
R7425:Ankrd35 UTSW 3 96684788 missense not run
Posted On2016-08-02