Incidental Mutation 'IGL00979:Ankrd50'
ID 27163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd50
Ensembl Gene ENSMUSG00000044864
Gene Name ankyrin repeat domain 50
Synonyms E430012K20Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # IGL00979
Quality Score
Status
Chromosome 3
Chromosomal Location 38503408-38538993 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to A at 38506563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094300] [ENSMUST00000120875] [ENSMUST00000156038]
AlphaFold A6H6J9
Predicted Effect probably benign
Transcript: ENSMUST00000094300
SMART Domains Protein: ENSMUSP00000091858
Gene: ENSMUSG00000044864

DomainStartEndE-ValueType
ANK 18 47 1.16e-5 SMART
ANK 51 80 3.41e-3 SMART
ANK 84 113 2.9e-6 SMART
ANK 117 147 3.31e-1 SMART
low complexity region 216 243 N/A INTRINSIC
low complexity region 262 282 N/A INTRINSIC
low complexity region 301 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120875
SMART Domains Protein: ENSMUSP00000113349
Gene: ENSMUSG00000044864

DomainStartEndE-ValueType
SCOP:d1kaga_ 72 90 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156038
SMART Domains Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864

DomainStartEndE-ValueType
Blast:ANK 440 472 8e-11 BLAST
ANK 507 536 7.95e-4 SMART
ANK 540 569 1.01e-5 SMART
ANK 573 602 6.81e-3 SMART
ANK 606 635 1.7e-3 SMART
ANK 639 668 7.64e-6 SMART
ANK 672 706 4.5e-3 SMART
ANK 710 739 3.33e-6 SMART
ANK 743 772 5.37e-1 SMART
ANK 776 806 1.65e-1 SMART
ANK 809 838 1.2e-3 SMART
ANK 842 871 3.97e-4 SMART
ANK 875 904 3.06e-5 SMART
ANK 908 937 2.88e-1 SMART
ANK 941 970 1.16e-5 SMART
ANK 974 1003 3.41e-3 SMART
ANK 1007 1036 2.9e-6 SMART
ANK 1040 1070 3.31e-1 SMART
low complexity region 1139 1166 N/A INTRINSIC
low complexity region 1185 1205 N/A INTRINSIC
low complexity region 1224 1255 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,338 (GRCm39) K84M probably damaging Het
A4gnt T A 9: 99,502,489 (GRCm39) Y216* probably null Het
Abcb1b A G 5: 8,875,293 (GRCm39) probably benign Het
Catsperb A G 12: 101,381,584 (GRCm39) T89A probably benign Het
Ccdc15 C T 9: 37,227,786 (GRCm39) S236N probably benign Het
Cd34 A C 1: 194,631,816 (GRCm39) T151P possibly damaging Het
Col28a1 A T 6: 8,014,810 (GRCm39) V865E probably damaging Het
Csf2rb T A 15: 78,232,304 (GRCm39) V537E probably damaging Het
Cux2 A G 5: 122,011,777 (GRCm39) F553L probably damaging Het
Dolk A T 2: 30,174,743 (GRCm39) L434Q probably damaging Het
Dsg2 C A 18: 20,715,824 (GRCm39) D255E probably damaging Het
Endov T C 11: 119,391,444 (GRCm39) V144A probably damaging Het
Grik2 T C 10: 49,232,034 (GRCm39) N499D probably damaging Het
Hephl1 G T 9: 14,978,341 (GRCm39) T855K probably benign Het
Hif1a A G 12: 73,988,784 (GRCm39) D557G probably damaging Het
Idh1 G A 1: 65,210,308 (GRCm39) T75I probably damaging Het
Ighv1-37 A G 12: 114,860,070 (GRCm39) S47P probably benign Het
Irx4 A G 13: 73,416,341 (GRCm39) probably benign Het
Itpr1 C T 6: 108,448,081 (GRCm39) A1871V probably damaging Het
Klkb1 A G 8: 45,747,105 (GRCm39) probably benign Het
Lrrc8e T C 8: 4,285,080 (GRCm39) L435P probably damaging Het
Megf11 T A 9: 64,416,009 (GRCm39) Y73N probably damaging Het
Nfe2 T C 15: 103,157,607 (GRCm39) D128G probably damaging Het
Or13a22 A G 7: 140,072,614 (GRCm39) E21G probably benign Het
Or4k51 T A 2: 111,584,771 (GRCm39) M59K probably damaging Het
Pak6 C A 2: 118,526,963 (GRCm39) L653I probably damaging Het
Pde4dip T A 3: 97,655,074 (GRCm39) probably benign Het
Pds5a A G 5: 65,789,066 (GRCm39) V831A probably benign Het
Prc1 G T 7: 79,957,444 (GRCm39) probably null Het
Ptprs C T 17: 56,765,243 (GRCm39) G14S probably damaging Het
Pygb A G 2: 150,661,833 (GRCm39) K520E probably benign Het
Rimbp2 A G 5: 128,883,505 (GRCm39) S92P probably benign Het
Samd4b A T 7: 28,113,638 (GRCm39) L109Q probably damaging Het
Saxo4 T C 19: 10,451,863 (GRCm39) *428W probably null Het
Scn8a A T 15: 100,853,287 (GRCm39) probably benign Het
Sdc3 A G 4: 130,545,991 (GRCm39) I23V unknown Het
Sec61a2 A G 2: 5,876,831 (GRCm39) Y350H possibly damaging Het
Slc4a3 A T 1: 75,530,891 (GRCm39) Q759L probably damaging Het
Speg C T 1: 75,387,378 (GRCm39) P1378L probably damaging Het
Spta1 T G 1: 174,035,956 (GRCm39) Y1087* probably null Het
Tenm4 A G 7: 96,378,598 (GRCm39) E401G probably damaging Het
Tom1 C A 8: 75,781,331 (GRCm39) probably benign Het
Ttc3 T A 16: 94,257,577 (GRCm39) V1273D probably damaging Het
Vmn2r106 G T 17: 20,497,837 (GRCm39) D467E possibly damaging Het
Washc4 A T 10: 83,386,747 (GRCm39) T124S probably benign Het
Zfp790 A G 7: 29,529,034 (GRCm39) E573G probably benign Het
Other mutations in Ankrd50
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB006:Ankrd50 UTSW 3 38,511,258 (GRCm39) missense probably damaging 1.00
BB016:Ankrd50 UTSW 3 38,511,258 (GRCm39) missense probably damaging 1.00
PIT4378001:Ankrd50 UTSW 3 38,509,412 (GRCm39) missense possibly damaging 0.94
PIT4434001:Ankrd50 UTSW 3 38,509,412 (GRCm39) missense possibly damaging 0.94
PIT4651001:Ankrd50 UTSW 3 38,509,959 (GRCm39) nonsense probably null
R0048:Ankrd50 UTSW 3 38,537,198 (GRCm39) missense probably benign 0.00
R0048:Ankrd50 UTSW 3 38,537,198 (GRCm39) missense probably benign 0.00
R0127:Ankrd50 UTSW 3 38,510,384 (GRCm39) missense probably benign 0.00
R0179:Ankrd50 UTSW 3 38,509,463 (GRCm39) missense possibly damaging 0.61
R0417:Ankrd50 UTSW 3 38,510,510 (GRCm39) missense probably damaging 1.00
R0593:Ankrd50 UTSW 3 38,537,156 (GRCm39) nonsense probably null
R1076:Ankrd50 UTSW 3 38,509,071 (GRCm39) missense probably damaging 0.97
R1127:Ankrd50 UTSW 3 38,511,336 (GRCm39) missense probably benign 0.02
R1169:Ankrd50 UTSW 3 38,508,401 (GRCm39) missense probably damaging 1.00
R1212:Ankrd50 UTSW 3 38,509,836 (GRCm39) missense probably damaging 1.00
R1447:Ankrd50 UTSW 3 38,509,691 (GRCm39) missense probably damaging 1.00
R1864:Ankrd50 UTSW 3 38,508,610 (GRCm39) missense probably benign 0.02
R1900:Ankrd50 UTSW 3 38,509,536 (GRCm39) missense probably damaging 1.00
R1907:Ankrd50 UTSW 3 38,508,201 (GRCm39) missense probably damaging 1.00
R1912:Ankrd50 UTSW 3 38,510,925 (GRCm39) missense probably benign 0.07
R2051:Ankrd50 UTSW 3 38,508,642 (GRCm39) missense probably benign 0.21
R2197:Ankrd50 UTSW 3 38,509,741 (GRCm39) missense probably damaging 1.00
R2403:Ankrd50 UTSW 3 38,537,234 (GRCm39) nonsense probably null
R3716:Ankrd50 UTSW 3 38,508,299 (GRCm39) missense probably damaging 0.99
R3944:Ankrd50 UTSW 3 38,506,645 (GRCm39) missense probably benign 0.03
R3948:Ankrd50 UTSW 3 38,536,990 (GRCm39) missense possibly damaging 0.75
R4483:Ankrd50 UTSW 3 38,511,680 (GRCm39) missense probably damaging 1.00
R4577:Ankrd50 UTSW 3 38,510,090 (GRCm39) missense probably damaging 0.98
R4691:Ankrd50 UTSW 3 38,537,159 (GRCm39) missense probably benign 0.01
R4907:Ankrd50 UTSW 3 38,510,824 (GRCm39) missense probably damaging 0.98
R4907:Ankrd50 UTSW 3 38,509,122 (GRCm39) nonsense probably null
R5135:Ankrd50 UTSW 3 38,509,952 (GRCm39) missense probably damaging 1.00
R5356:Ankrd50 UTSW 3 38,510,334 (GRCm39) missense probably damaging 0.99
R5368:Ankrd50 UTSW 3 38,509,199 (GRCm39) missense probably damaging 1.00
R5534:Ankrd50 UTSW 3 38,510,231 (GRCm39) missense probably damaging 0.99
R6103:Ankrd50 UTSW 3 38,508,578 (GRCm39) missense probably damaging 0.99
R6169:Ankrd50 UTSW 3 38,509,988 (GRCm39) missense probably damaging 1.00
R6653:Ankrd50 UTSW 3 38,511,510 (GRCm39) missense probably damaging 1.00
R7317:Ankrd50 UTSW 3 38,537,332 (GRCm39) missense possibly damaging 0.90
R7469:Ankrd50 UTSW 3 38,508,342 (GRCm39) missense probably damaging 0.99
R7617:Ankrd50 UTSW 3 38,538,831 (GRCm39) unclassified probably benign
R7749:Ankrd50 UTSW 3 38,536,870 (GRCm39) missense probably damaging 1.00
R7929:Ankrd50 UTSW 3 38,511,258 (GRCm39) missense probably damaging 1.00
R8723:Ankrd50 UTSW 3 38,511,453 (GRCm39) missense probably damaging 1.00
R9046:Ankrd50 UTSW 3 38,506,642 (GRCm39) missense probably benign 0.03
R9164:Ankrd50 UTSW 3 38,511,204 (GRCm39) missense probably damaging 1.00
R9356:Ankrd50 UTSW 3 38,510,236 (GRCm39) missense probably damaging 1.00
R9359:Ankrd50 UTSW 3 38,537,172 (GRCm39) missense probably damaging 0.97
R9654:Ankrd50 UTSW 3 38,511,018 (GRCm39) missense probably benign
R9674:Ankrd50 UTSW 3 38,506,574 (GRCm39) missense unknown
Z1088:Ankrd50 UTSW 3 38,511,314 (GRCm39) missense probably damaging 0.96
Z1177:Ankrd50 UTSW 3 38,509,941 (GRCm39) missense probably damaging 0.99
Posted On 2013-04-17