Incidental Mutation 'R1212:Ankrd50'
ID 99434
Institutional Source Beutler Lab
Gene Symbol Ankrd50
Ensembl Gene ENSMUSG00000044864
Gene Name ankyrin repeat domain 50
Synonyms E430012K20Rik
MMRRC Submission 039281-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R1212 (G1)
Quality Score 222
Status Not validated
Chromosome 3
Chromosomal Location 38503408-38538993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38509836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 844 (R844C)
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: R844C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: R844C

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
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.2%
  • 20x: 82.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 G A 2: 91,599,381 (GRCm39) R167H possibly damaging Het
Arfgef1 T C 1: 10,286,784 (GRCm39) E42G probably benign Het
Arhgap42 T A 9: 9,015,313 (GRCm39) I444F probably damaging Het
Cspg4b G A 13: 113,505,951 (GRCm39) probably benign Het
Ift56 A G 6: 38,387,728 (GRCm39) D393G probably damaging Het
Ift70a2 A T 2: 75,806,823 (GRCm39) I563N probably damaging Het
Il25 G A 14: 55,170,212 (GRCm39) probably benign Het
Jak1 A G 4: 101,046,291 (GRCm39) L105P probably damaging Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Ralgapa2 A G 2: 146,199,902 (GRCm39) V1214A probably benign Het
Shtn1 T C 19: 59,039,322 (GRCm39) D39G probably damaging Het
Supt16 G A 14: 52,411,581 (GRCm39) R601* probably null Het
Vmn1r113 A T 7: 20,521,356 (GRCm39) R49S probably benign Het
Vmn1r64 C T 7: 5,887,210 (GRCm39) S111N 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
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
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'- CTGCTGCATTGACATCTGCATGG -3'
(R):5'- ACTCTCTTGGACAGAGGCTTGGAC -3'

Sequencing Primer
(F):5'- TTGACATCTGCATGGCAAGC -3'
(R):5'- GCTTGGACGAGAGCCAC -3'
Posted On 2014-01-15