Incidental Mutation 'R4483:Ankrd50'
ID 331488
Institutional Source Beutler Lab
Gene Symbol Ankrd50
Ensembl Gene ENSMUSG00000044864
Gene Name ankyrin repeat domain 50
Synonyms E430012K20Rik
MMRRC Submission 041739-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R4483 (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 38511680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 229 (V229A)
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 damaging
Transcript: ENSMUST00000156038
AA Change: V229A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: V229A

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 0.2597 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,567,349 (GRCm39) G5275S probably benign Het
Akap11 A G 14: 78,747,699 (GRCm39) S1563P probably damaging Het
AW112010 A G 19: 11,027,757 (GRCm39) noncoding transcript Het
Ccdc158 A G 5: 92,781,187 (GRCm39) S873P probably benign Het
Cep350 A G 1: 155,802,214 (GRCm39) V1104A probably benign Het
Chil4 G A 3: 106,121,678 (GRCm39) A57V probably damaging Het
Cpa5 A G 6: 30,624,625 (GRCm39) E155G probably damaging Het
Ctsq T C 13: 61,186,726 (GRCm39) I93V probably benign Het
Dbi A T 1: 120,048,535 (GRCm39) I37K probably benign Het
Defa35 T C 8: 21,555,208 (GRCm39) S43P probably damaging Het
Fance T A 17: 28,534,781 (GRCm39) probably benign Het
Fbxl6 A G 15: 76,422,129 (GRCm39) L180P probably damaging Het
Fkbpl T C 17: 34,865,269 (GRCm39) F346L probably damaging Het
Gm11735 C A 11: 116,632,101 (GRCm39) noncoding transcript Het
Gm28042 T C 2: 119,866,321 (GRCm39) I373T possibly damaging Het
Golga4 T C 9: 118,343,254 (GRCm39) S27P probably damaging Het
Gstm1 C T 3: 107,923,834 (GRCm39) probably null Het
Lama3 T A 18: 12,682,310 (GRCm39) I1092K probably benign Het
Med15 A T 16: 17,489,428 (GRCm39) probably benign Het
Nlrp6 A G 7: 140,501,694 (GRCm39) D87G probably damaging Het
Parp11 A G 6: 127,448,568 (GRCm39) T62A probably benign Het
Pcnt A G 10: 76,237,317 (GRCm39) L1323S probably damaging Het
Ppp2r1a C T 17: 21,176,072 (GRCm39) T98I probably benign Het
Pramel11 T A 4: 143,622,410 (GRCm39) Y315F probably damaging Het
Prl7a2 T A 13: 27,844,930 (GRCm39) H152L possibly damaging Het
Rnf145 T C 11: 44,455,104 (GRCm39) S662P probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Tnfaip3 A T 10: 18,887,375 (GRCm39) M50K probably damaging Het
Txlnb T TTA 10: 17,714,745 (GRCm39) probably null Het
Usp9x A G X: 12,987,687 (GRCm39) D638G possibly damaging Het
Vmn1r30 A T 6: 58,412,118 (GRCm39) V238E probably damaging Het
Zfp507 A G 7: 35,487,141 (GRCm39) probably null Het
Zfp532 G T 18: 65,789,636 (GRCm39) W1025L 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
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'- TCCCGAAGCATGATGAAGTTC -3'
(R):5'- TTAGCCACACTTGTTGGTAGG -3'

Sequencing Primer
(F):5'- GCATGATGAAGTTCTCTACGACGC -3'
(R):5'- CATACTAGCAGGTGTAGGTAGATTC -3'
Posted On 2015-07-21