Incidental Mutation 'R0593:Ankrd50'
ID 189194
Institutional Source Beutler Lab
Gene Symbol Ankrd50
Ensembl Gene ENSMUSG00000044864
Gene Name ankyrin repeat domain 50
Synonyms E430012K20Rik
MMRRC Submission 038783-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R0593 (G1)
Quality Score 49
Status Validated
Chromosome 3
Chromosomal Location 38503408-38538993 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 38537156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 29 (G29*)
Ref Sequence ENSEMBL: ENSMUSP00000122842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120875] [ENSMUST00000156038]
AlphaFold A6H6J9
Predicted Effect probably null
Transcript: ENSMUST00000120875
AA Change: G66*
SMART Domains Protein: ENSMUSP00000113349
Gene: ENSMUSG00000044864
AA Change: G66*

DomainStartEndE-ValueType
SCOP:d1kaga_ 72 90 4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127837
Predicted Effect probably null
Transcript: ENSMUST00000156038
AA Change: G29*
SMART Domains Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: G29*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,958,925 (GRCm39) D733G probably damaging Het
Acmsd T C 1: 127,666,340 (GRCm39) probably benign Het
Adam34 T C 8: 44,104,724 (GRCm39) Y307C possibly damaging Het
Alox12e A G 11: 70,211,723 (GRCm39) probably benign Het
Arhgap17 T C 7: 122,885,966 (GRCm39) probably benign Het
Asah1 A G 8: 41,802,619 (GRCm39) M141T probably benign Het
Atg2a GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC 19: 6,295,037 (GRCm39) probably benign Het
Bsn A T 9: 107,987,505 (GRCm39) I2749N unknown Het
Cds2 G A 2: 132,139,296 (GRCm39) probably benign Het
Ckmt2 A G 13: 92,001,757 (GRCm39) V384A probably damaging Het
Clock A G 5: 76,413,683 (GRCm39) S71P probably benign Het
Cops6 A G 5: 138,161,842 (GRCm39) T96A probably benign Het
Csnka2ip A T 16: 64,298,975 (GRCm39) V19D probably damaging Het
Dcaf17 T A 2: 70,917,744 (GRCm39) probably null Het
Dscam T C 16: 96,573,608 (GRCm39) K785E probably benign Het
Eif2d T A 1: 131,083,465 (GRCm39) probably benign Het
Gal3st2b T C 1: 93,868,549 (GRCm39) V258A probably benign Het
Gucy2c T C 6: 136,705,333 (GRCm39) N534S probably damaging Het
Hook1 C T 4: 95,887,023 (GRCm39) T210I possibly damaging Het
Ifi203 T C 1: 173,756,215 (GRCm39) probably benign Het
Irf7 T C 7: 140,844,975 (GRCm39) probably benign Het
Lrp2 C T 2: 69,297,350 (GRCm39) V3204I probably benign Het
Mtx2 A G 2: 74,699,780 (GRCm39) probably benign Het
Nelfcd G T 2: 174,265,223 (GRCm39) V248L probably benign Het
Oosp1 T C 19: 11,645,776 (GRCm39) S121G probably benign Het
Or10am5 T A 7: 6,517,808 (GRCm39) N207Y probably benign Het
Sec16b G C 1: 157,359,718 (GRCm39) G164R probably benign Het
Slc22a14 T A 9: 118,998,919 (GRCm39) D561V probably benign Het
Tet2 G A 3: 133,193,870 (GRCm39) T188I probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Trp53bp1 A G 2: 121,101,009 (GRCm39) V63A possibly damaging Het
Ube2d2a T G 18: 35,903,438 (GRCm39) probably benign Het
Vmn1r113 T A 7: 20,521,388 (GRCm39) V60E probably damaging Het
Other mutations in Ankrd50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Ankrd50 APN 3 38,506,563 (GRCm39) utr 3 prime probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TCCAACACACAAAGTGTCTGAGTCC -3'
(R):5'- TTCACGGCAACTGGTCATTCCC -3'

Sequencing Primer
(F):5'- CTGAGTCCTGGGCTTTGC -3'
(R):5'- TGGTAATGTATCCAAATCCTAGCCC -3'
Posted On 2014-05-13