Incidental Mutation 'R4691:Ankrd50'
ID 354892
Institutional Source Beutler Lab
Gene Symbol Ankrd50
Ensembl Gene ENSMUSG00000044864
Gene Name ankyrin repeat domain 50
Synonyms E430012K20Rik
MMRRC Submission 041942-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R4691 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 38503408-38538993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38537159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
Ref Sequence ENSEMBL: ENSMUSP00000113349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120875] [ENSMUST00000156038]
AlphaFold A6H6J9
Predicted Effect probably benign
Transcript: ENSMUST00000120875
AA Change: S65P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113349
Gene: ENSMUSG00000044864
AA Change: S65P

DomainStartEndE-ValueType
SCOP:d1kaga_ 72 90 4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127837
Predicted Effect probably benign
Transcript: ENSMUST00000156038
AA Change: S28P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: S28P

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 0.0709 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (70/72)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,384,195 (GRCm39) R3882S probably damaging Het
Adamts2 G T 11: 50,647,523 (GRCm39) V299F probably damaging Het
Ap4e1 T C 2: 126,903,791 (GRCm39) C898R probably benign Het
Arel1 A T 12: 84,977,023 (GRCm39) probably null Het
Bag6 T A 17: 35,358,224 (GRCm39) V164D probably damaging Het
C2cd5 A G 6: 142,975,874 (GRCm39) S769P possibly damaging Het
Cables1 C T 18: 11,973,580 (GRCm39) Q240* probably null Het
Ccnb1-ps T A 7: 41,755,516 (GRCm39) noncoding transcript Het
Ccz1 A T 5: 143,928,380 (GRCm39) I390N possibly damaging Het
Ceacam23 T A 7: 17,642,891 (GRCm39) S434T possibly damaging Het
Ces1a T C 8: 93,759,287 (GRCm39) H283R probably benign Het
Clca3b G A 3: 144,544,853 (GRCm39) T378I probably benign Het
Cpne2 A T 8: 95,284,849 (GRCm39) I342F probably damaging Het
Cyp2d9 A G 15: 82,340,033 (GRCm39) D141G probably damaging Het
Ddias T A 7: 92,508,024 (GRCm39) K630N probably damaging Het
Dennd4b A G 3: 90,179,619 (GRCm39) T626A probably damaging Het
Disc1 T C 8: 125,875,186 (GRCm39) V554A possibly damaging Het
Dnah10 A G 5: 124,852,581 (GRCm39) T1880A probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Epop C T 11: 97,519,719 (GRCm39) G130D possibly damaging Het
Erap1 T C 13: 74,821,811 (GRCm39) L722P probably damaging Het
Eya4 T A 10: 23,015,966 (GRCm39) T334S probably benign Het
Ezr T C 17: 7,026,961 (GRCm39) I5V probably benign Het
Fam53c A C 18: 34,901,743 (GRCm39) E220A probably damaging Het
Galnt12 T C 4: 47,104,143 (GRCm39) S134P probably damaging Het
Gcfc2 T A 6: 81,918,408 (GRCm39) L366* probably null Het
Gins4 T A 8: 23,727,075 (GRCm39) D6V probably benign Het
Grid1 A G 14: 35,291,514 (GRCm39) H807R probably benign Het
H2-T22 GTTTT GTTT 17: 36,352,462 (GRCm39) probably null Het
Ighv1-66 T C 12: 115,556,929 (GRCm39) Y51C probably benign Het
Inpp4b A T 8: 82,849,282 (GRCm39) Y901F probably damaging Het
Irf2 T A 8: 47,299,222 (GRCm39) S339T probably damaging Het
Itgae G T 11: 73,010,345 (GRCm39) G612* probably null Het
Kdr T C 5: 76,105,259 (GRCm39) K1037R possibly damaging Het
Mro A T 18: 74,006,397 (GRCm39) M115L probably benign Het
Myo5a A G 9: 75,087,438 (GRCm39) E1098G probably damaging Het
Nkx2-1 T A 12: 56,580,350 (GRCm39) M197L probably benign Het
Or7e165 T C 9: 19,694,678 (GRCm39) I83T probably benign Het
Pank2 T A 2: 131,138,201 (GRCm39) F430L possibly damaging Het
Pcx T A 19: 4,669,505 (GRCm39) V794E probably damaging Het
Pdgfd C T 9: 6,288,556 (GRCm39) P70L probably damaging Het
Pla2g4e T C 2: 120,004,781 (GRCm39) Y521C probably damaging Het
Pou5f1 T A 17: 35,817,028 (GRCm39) F11Y probably damaging Het
Prdm9 A G 17: 15,773,640 (GRCm39) M252T probably benign Het
Ptk2b C T 14: 66,394,518 (GRCm39) G859S probably benign Het
Rad51ap1 A G 6: 126,904,516 (GRCm39) S123P probably benign Het
Robo3 T C 9: 37,336,514 (GRCm39) E418G probably damaging Het
Sos2 C T 12: 69,663,102 (GRCm39) R631H probably damaging Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
St3gal2 C T 8: 111,684,417 (GRCm39) T25I probably benign Het
Stra6l G A 4: 45,882,851 (GRCm39) A521T probably benign Het
Syt7 T A 19: 10,403,845 (GRCm39) L177Q probably damaging Het
Tet2 T A 3: 133,191,844 (GRCm39) Q863H possibly damaging Het
Tmem232 T C 17: 65,572,237 (GRCm39) K585E possibly damaging Het
Trpc6 A C 9: 8,652,979 (GRCm39) E595A probably damaging Het
Txnl1 A G 18: 63,804,750 (GRCm39) V248A possibly damaging Het
Vmn2r72 A T 7: 85,387,119 (GRCm39) L815* probably null Het
Vmn2r81 C T 10: 79,129,211 (GRCm39) Q701* probably null Het
Vps13c T C 9: 67,860,217 (GRCm39) V2811A possibly damaging Het
Vsig10l2 T C 9: 35,428,158 (GRCm39) S106G possibly damaging Het
Zfp354a A G 11: 50,961,064 (GRCm39) E425G probably damaging Het
Zfp617 A T 8: 72,686,659 (GRCm39) T330S probably benign Het
Zfp663 G T 2: 165,201,050 (GRCm39) probably benign Het
Zfp84 T C 7: 29,476,505 (GRCm39) L399P probably damaging Het
Zfp869 A T 8: 70,159,513 (GRCm39) C353* probably null Het
Zscan22 C T 7: 12,640,488 (GRCm39) A85V probably benign 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
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
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'- TTTGGCAGATCTGGGCTACC -3'
(R):5'- ATCCTTGGGAAGAGAAAGTCTG -3'

Sequencing Primer
(F):5'- GGGCTACCAGACCTCTGATAAAC -3'
(R):5'- GTCTGCAAAATGGCCCAGACG -3'
Posted On 2015-10-21