Incidental Mutation 'R6387:Ankrd31'
ID 514673
Institutional Source Beutler Lab
Gene Symbol Ankrd31
Ensembl Gene ENSMUSG00000109561
Gene Name ankyrin repeat domain 31
Synonyms
MMRRC Submission 044536-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6387 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 96884797-97046302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96967081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 520 (D520G)
Ref Sequence ENSEMBL: ENSMUSP00000146720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207464] [ENSMUST00000208758]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000207464
AA Change: D370G
Predicted Effect probably damaging
Transcript: ENSMUST00000208758
AA Change: D520G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,881 (GRCm39) K326E possibly damaging Het
Acot1 A G 12: 84,056,627 (GRCm39) D115G probably benign Het
Adm T C 7: 110,227,502 (GRCm39) I6T possibly damaging Het
Ahi1 A G 10: 20,844,942 (GRCm39) Y349C probably damaging Het
Aldh1a1 A G 19: 20,595,323 (GRCm39) E84G probably damaging Het
Ano4 A T 10: 88,807,267 (GRCm39) Y736* probably null Het
Atp6v1a A G 16: 43,907,806 (GRCm39) F612S possibly damaging Het
Bltp3b C T 10: 89,638,919 (GRCm39) Q442* probably null Het
Calcb G A 7: 114,319,025 (GRCm39) V17I possibly damaging Het
Cfap70 C T 14: 20,498,643 (GRCm39) V15M probably damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Csgalnact1 C T 8: 68,811,365 (GRCm39) G435D probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eprs1 T A 1: 185,119,281 (GRCm39) M487K possibly damaging Het
Fat4 A G 3: 39,037,934 (GRCm39) E3862G probably damaging Het
Gdf10 T A 14: 33,645,961 (GRCm39) S37T probably benign Het
Hhatl T A 9: 121,619,467 (GRCm39) H39L probably benign Het
Icam4 A C 9: 20,941,505 (GRCm39) S215R possibly damaging Het
Ighv1-18 T C 12: 114,646,280 (GRCm39) E108G probably damaging Het
Iqcd T C 5: 120,744,920 (GRCm39) I416T probably benign Het
Marf1 T A 16: 13,959,504 (GRCm39) *577L probably null Het
Mark2 A G 19: 7,263,267 (GRCm39) F167L probably damaging Het
Mpdz T C 4: 81,299,946 (GRCm39) T351A possibly damaging Het
Mrps27 A G 13: 99,536,825 (GRCm39) I113V possibly damaging Het
Numbl C T 7: 26,976,115 (GRCm39) T265I probably damaging Het
Obsl1 C T 1: 75,468,006 (GRCm39) A1296T probably benign Het
Or10g9 A G 9: 39,912,148 (GRCm39) I125T probably damaging Het
Pcdhb21 A G 18: 37,648,385 (GRCm39) I505V probably benign Het
Pfas A G 11: 68,891,291 (GRCm39) F269L probably damaging Het
Prkdc G A 16: 15,516,679 (GRCm39) V1018I probably benign Het
Prl4a1 T A 13: 28,202,482 (GRCm39) V19E possibly damaging Het
Ptpn22 A G 3: 103,792,702 (GRCm39) D327G probably benign Het
Smad3 G T 9: 63,562,047 (GRCm39) D310E probably benign Het
Sparcl1 T A 5: 104,232,926 (GRCm39) D625V probably damaging Het
Spta1 G A 1: 174,058,899 (GRCm39) A1945T probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sympk T C 7: 18,786,423 (GRCm39) Y1009H possibly damaging Het
Trio A G 15: 27,752,825 (GRCm39) F1026L probably damaging Het
Unc5d T A 8: 29,365,554 (GRCm39) K144* probably null Het
Unk A G 11: 115,945,766 (GRCm39) N479S possibly damaging Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zfp993 A G 4: 146,741,975 (GRCm39) T100A probably damaging Het
Other mutations in Ankrd31
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6001:Ankrd31 UTSW 13 96,962,717 (GRCm39) missense probably damaging 1.00
R6035:Ankrd31 UTSW 13 96,968,721 (GRCm39) missense probably benign 0.00
R6035:Ankrd31 UTSW 13 96,968,721 (GRCm39) missense probably benign 0.00
R6273:Ankrd31 UTSW 13 96,988,181 (GRCm39) missense possibly damaging 0.61
R6291:Ankrd31 UTSW 13 97,014,746 (GRCm39) missense possibly damaging 0.72
R6608:Ankrd31 UTSW 13 96,969,288 (GRCm39) missense probably damaging 0.99
R6680:Ankrd31 UTSW 13 96,967,117 (GRCm39) critical splice donor site probably null
R6738:Ankrd31 UTSW 13 97,040,635 (GRCm39) missense possibly damaging 0.79
R6860:Ankrd31 UTSW 13 96,968,094 (GRCm39) missense probably benign 0.01
R6988:Ankrd31 UTSW 13 97,014,757 (GRCm39) missense probably damaging 1.00
R7305:Ankrd31 UTSW 13 97,015,479 (GRCm39) missense probably damaging 0.99
R7586:Ankrd31 UTSW 13 96,968,562 (GRCm39) missense possibly damaging 0.92
R7631:Ankrd31 UTSW 13 97,015,462 (GRCm39) missense probably benign 0.04
R7842:Ankrd31 UTSW 13 96,957,966 (GRCm39) critical splice donor site probably null
R7890:Ankrd31 UTSW 13 96,968,379 (GRCm39) missense probably benign 0.27
R7911:Ankrd31 UTSW 13 97,015,608 (GRCm39) missense possibly damaging 0.47
R8052:Ankrd31 UTSW 13 96,969,036 (GRCm39) missense probably benign 0.07
R8133:Ankrd31 UTSW 13 97,003,003 (GRCm39) critical splice donor site probably null
R8430:Ankrd31 UTSW 13 96,988,199 (GRCm39) missense possibly damaging 0.78
R8752:Ankrd31 UTSW 13 96,916,879 (GRCm39) missense probably damaging 0.99
R8767:Ankrd31 UTSW 13 96,969,224 (GRCm39) missense probably damaging 1.00
R8793:Ankrd31 UTSW 13 96,968,221 (GRCm39) missense probably damaging 0.97
R8903:Ankrd31 UTSW 13 96,969,329 (GRCm39) missense probably damaging 1.00
R8917:Ankrd31 UTSW 13 96,969,212 (GRCm39) missense probably damaging 0.98
R8946:Ankrd31 UTSW 13 97,046,037 (GRCm39) makesense probably null
R9006:Ankrd31 UTSW 13 96,967,104 (GRCm39) missense probably benign 0.00
R9022:Ankrd31 UTSW 13 96,962,655 (GRCm39) missense probably benign 0.01
R9045:Ankrd31 UTSW 13 96,968,034 (GRCm39) nonsense probably null
R9098:Ankrd31 UTSW 13 96,916,879 (GRCm39) missense probably damaging 0.97
R9115:Ankrd31 UTSW 13 96,940,773 (GRCm39) critical splice donor site probably null
R9202:Ankrd31 UTSW 13 97,015,383 (GRCm39) nonsense probably null
R9211:Ankrd31 UTSW 13 97,029,551 (GRCm39) missense possibly damaging 0.93
R9297:Ankrd31 UTSW 13 97,015,085 (GRCm39) missense probably benign 0.04
R9318:Ankrd31 UTSW 13 97,015,085 (GRCm39) missense probably benign 0.04
R9377:Ankrd31 UTSW 13 97,014,733 (GRCm39) missense probably benign 0.10
R9454:Ankrd31 UTSW 13 96,916,846 (GRCm39) missense possibly damaging 0.70
R9454:Ankrd31 UTSW 13 96,916,842 (GRCm39) missense probably damaging 0.97
R9538:Ankrd31 UTSW 13 97,009,193 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- CTCCTCCCCGAAGCTTATAATG -3'
(R):5'- AGGCTGGAACCTTCTGCTATC -3'

Sequencing Primer
(F):5'- GAGTTAGTCCTGCCCACTGTG -3'
(R):5'- GCTGGAACCTTCTGCTATCTCATG -3'
Posted On 2018-05-04