Incidental Mutation 'IGL02366:Ankrd55'
ID290730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd55
Ensembl Gene ENSMUSG00000049985
Gene Nameankyrin repeat domain 55
SynonymsC030011J08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02366
Quality Score
Status
Chromosome13
Chromosomal Location112288451-112384002 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 112318460 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 3 (Y3H)
Ref Sequence ENSEMBL: ENSMUSP00000153075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022275] [ENSMUST00000056047] [ENSMUST00000165593] [ENSMUST00000168684] [ENSMUST00000223871]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022275
AA Change: Y31H

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: Y31H

DomainStartEndE-ValueType
Blast:ANK 25 54 1e-9 BLAST
ANK 59 88 7.64e-6 SMART
ANK 92 121 4.18e2 SMART
ANK 125 156 4.86e1 SMART
ANK 160 189 5.32e-5 SMART
ANK 193 222 7.59e-1 SMART
ANK 229 257 2.97e2 SMART
ANK 263 292 5.71e-5 SMART
ANK 296 326 1.63e0 SMART
low complexity region 528 543 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000056047
AA Change: Y31H

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058891
Gene: ENSMUSG00000049985
AA Change: Y31H

DomainStartEndE-ValueType
Blast:ANK 25 54 6e-10 BLAST
ANK 59 88 7.64e-6 SMART
ANK 92 121 4.18e2 SMART
ANK 125 156 4.86e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165593
AA Change: Y3H

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: Y3H

DomainStartEndE-ValueType
Blast:ANK 1 26 8e-8 BLAST
ANK 31 60 7.64e-6 SMART
ANK 64 93 4.18e2 SMART
ANK 97 128 4.86e1 SMART
ANK 132 161 5.32e-5 SMART
ANK 165 194 7.59e-1 SMART
ANK 201 229 2.97e2 SMART
ANK 235 264 5.71e-5 SMART
ANK 268 298 1.63e0 SMART
low complexity region 500 515 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168684
AA Change: Y31H

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000129726
Gene: ENSMUSG00000049985
AA Change: Y31H

DomainStartEndE-ValueType
Blast:ANK 25 54 9e-10 BLAST
ANK 59 88 7.64e-6 SMART
ANK 92 121 4.18e2 SMART
ANK 125 156 4.86e1 SMART
ANK 160 189 5.32e-5 SMART
ANK 193 222 7.59e-1 SMART
ANK 229 257 2.97e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000223871
AA Change: Y3H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225329
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T A 15: 12,810,773 H339L probably benign Het
Abcc1 T C 16: 14,467,979 probably benign Het
Armcx4 A C X: 134,691,512 K723T possibly damaging Het
Brinp3 T A 1: 146,701,743 V172D possibly damaging Het
Cemip C T 7: 83,943,641 R1226Q probably benign Het
Cntn5 A T 9: 9,984,055 probably benign Het
Cyld T C 8: 88,729,753 V474A probably damaging Het
Dhx40 T C 11: 86,776,702 E537G probably damaging Het
Efhc1 A G 1: 20,960,262 N140D probably damaging Het
Eif6 A G 2: 155,826,172 V49A probably benign Het
Epha4 G T 1: 77,426,711 Y386* probably null Het
Ggnbp2 T C 11: 84,841,601 K222R probably damaging Het
Gm5117 T C 8: 31,737,859 noncoding transcript Het
Gm5852 A T 3: 93,727,261 noncoding transcript Het
Hadha A G 5: 30,135,050 V243A probably benign Het
Hal A G 10: 93,503,528 N493S probably damaging Het
Insrr A G 3: 87,809,909 T731A possibly damaging Het
Irs4 A T X: 141,723,904 L432H probably damaging Het
Kdm4a T G 4: 118,160,506 probably null Het
Lhx4 T C 1: 155,705,188 D197G possibly damaging Het
Mllt10 T A 2: 18,065,087 M18K probably damaging Het
Nars T C 18: 64,503,528 T422A possibly damaging Het
Ncf2 A G 1: 152,835,073 D445G probably benign Het
Ndor1 C A 2: 25,247,981 G544V possibly damaging Het
Notch3 C A 17: 32,144,205 R1268L probably benign Het
Olfr1472 T C 19: 13,454,127 Y130C probably damaging Het
Olfr229 T C 9: 39,909,992 L63P probably damaging Het
Olfr616 A T 7: 103,564,415 V288D probably damaging Het
Olfr771 A T 10: 129,160,625 Y120N probably damaging Het
Osgep T C 14: 50,919,950 D72G probably damaging Het
Pank4 C T 4: 154,969,628 T88I probably benign Het
Pcgf6 T C 19: 47,050,455 E122G possibly damaging Het
Ppp1r21 A G 17: 88,547,662 H123R probably damaging Het
Prex1 A C 2: 166,580,427 L28R probably damaging Het
Rbl1 A T 2: 157,174,893 N595K probably benign Het
Rnf148 T C 6: 23,654,059 I313V probably benign Het
Rnf220 T C 4: 117,489,783 N144S probably benign Het
Sbno2 G A 10: 80,064,202 T577I probably damaging Het
Sez6 T C 11: 77,976,882 I875T probably damaging Het
Slco1a5 A T 6: 142,250,215 V354D possibly damaging Het
Slit2 A T 5: 48,304,068 T1486S possibly damaging Het
Snd1 T C 6: 28,707,150 probably benign Het
Sval3 T C 6: 41,969,725 probably benign Het
Tmem94 T C 11: 115,797,432 L1239P probably damaging Het
Trpm6 T C 19: 18,778,510 probably benign Het
Ttc9 A C 12: 81,631,610 D69A possibly damaging Het
Ttn A T 2: 76,763,236 L20687M probably benign Het
Zfp748 T A 13: 67,545,427 probably benign Het
Other mutations in Ankrd55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Ankrd55 APN 13 112367794 missense probably benign 0.01
IGL01372:Ankrd55 APN 13 112323143 missense probably damaging 1.00
IGL01554:Ankrd55 APN 13 112323067 missense possibly damaging 0.87
IGL01700:Ankrd55 APN 13 112381168 missense probably benign 0.16
IGL03368:Ankrd55 APN 13 112318556 splice site probably benign
crescat UTSW 13 112348863 critical splice donor site probably null
I0000:Ankrd55 UTSW 13 112348725 splice site probably benign
R0547:Ankrd55 UTSW 13 112368223 missense probably benign 0.03
R0781:Ankrd55 UTSW 13 112381233 splice site probably benign
R0981:Ankrd55 UTSW 13 112323076 missense possibly damaging 0.78
R1072:Ankrd55 UTSW 13 112348842 missense possibly damaging 0.83
R1469:Ankrd55 UTSW 13 112367926 missense probably benign 0.39
R1469:Ankrd55 UTSW 13 112367926 missense probably benign 0.39
R2187:Ankrd55 UTSW 13 112383505 missense probably benign 0.01
R4430:Ankrd55 UTSW 13 112323183 critical splice donor site probably null
R4753:Ankrd55 UTSW 13 112363475 missense probably benign
R4846:Ankrd55 UTSW 13 112363454 missense probably benign 0.00
R4911:Ankrd55 UTSW 13 112323039 splice site probably null
R4996:Ankrd55 UTSW 13 112356088 missense possibly damaging 0.68
R5007:Ankrd55 UTSW 13 112367932 missense probably benign
R5077:Ankrd55 UTSW 13 112355988 missense probably benign 0.19
R5118:Ankrd55 UTSW 13 112355939 missense probably benign 0.00
R5350:Ankrd55 UTSW 13 112336226 missense probably damaging 1.00
R5367:Ankrd55 UTSW 13 112318502 missense probably damaging 1.00
R5560:Ankrd55 UTSW 13 112383490 missense probably benign
R5888:Ankrd55 UTSW 13 112355919 missense possibly damaging 0.62
R6130:Ankrd55 UTSW 13 112318446 missense probably damaging 1.00
R6589:Ankrd55 UTSW 13 112348863 critical splice donor site probably null
R6994:Ankrd55 UTSW 13 112368300 missense probably benign 0.42
R7100:Ankrd55 UTSW 13 112356110 missense probably benign 0.00
R7247:Ankrd55 UTSW 13 112336253 missense probably damaging 0.97
R7340:Ankrd55 UTSW 13 112355963 missense probably damaging 0.99
R7694:Ankrd55 UTSW 13 112367964 missense probably damaging 1.00
R8053:Ankrd55 UTSW 13 112323153 missense probably damaging 1.00
Posted On2015-04-16