Incidental Mutation 'R6738:Ankrd31'
ID 530329
Institutional Source Beutler Lab
Gene Symbol Ankrd31
Ensembl Gene ENSMUSG00000109561
Gene Name ankyrin repeat domain 31
Synonyms
MMRRC Submission 044856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6738 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 96884797-97046302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97040635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1713 (S1713P)
Ref Sequence ENSEMBL: ENSMUSP00000146720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207464] [ENSMUST00000208758]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000207464
Predicted Effect possibly damaging
Transcript: ENSMUST00000208758
AA Change: S1713P

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Abl1 T C 2: 31,684,586 (GRCm39) Y454H probably damaging Het
Ambp A T 4: 63,067,711 (GRCm39) D166E probably benign Het
Amigo2 A G 15: 97,143,345 (GRCm39) V359A possibly damaging Het
Ankrd11 A T 8: 123,618,660 (GRCm39) S1710T probably damaging Het
Arhgap45 A T 10: 79,863,431 (GRCm39) K758M probably damaging Het
Bclaf1 T C 10: 20,199,515 (GRCm39) I304T possibly damaging Het
C1ra A G 6: 124,494,718 (GRCm39) Y327C probably damaging Het
Ccdc73 C T 2: 104,822,433 (GRCm39) S794L probably benign Het
Cd24a A G 10: 43,458,672 (GRCm39) N48D possibly damaging Het
Col11a1 A G 3: 113,906,116 (GRCm39) probably benign Het
Cyp11b2 G A 15: 74,725,363 (GRCm39) T252I possibly damaging Het
Dlx2 A G 2: 71,376,406 (GRCm39) Y111H probably benign Het
Dsp T C 13: 38,376,186 (GRCm39) S1324P possibly damaging Het
Esyt3 A T 9: 99,202,346 (GRCm39) F522I probably damaging Het
Fam193b C T 13: 55,698,174 (GRCm39) A45T probably benign Het
Flnb A G 14: 7,904,536 (GRCm38) T980A probably benign Het
Gabrb2 G T 11: 42,484,758 (GRCm39) A272S possibly damaging Het
H2al2a G T 2: 18,001,429 (GRCm39) Q86K possibly damaging Het
Ikbkb T G 8: 23,165,052 (GRCm39) I243L probably damaging Het
Il18r1 A G 1: 40,537,816 (GRCm39) E527G probably benign Het
Krt35 A T 11: 99,984,535 (GRCm39) V320D probably damaging Het
Krt76 C T 15: 101,795,913 (GRCm39) R419H probably benign Het
Lrp2 T A 2: 69,288,832 (GRCm39) Y3678F probably damaging Het
Mab21l4 G A 1: 93,087,707 (GRCm39) L49F probably benign Het
Mnat1 T G 12: 73,319,246 (GRCm39) S290A probably benign Het
Mptx2 T C 1: 173,102,422 (GRCm39) E89G probably benign Het
Myom1 T A 17: 71,407,393 (GRCm39) probably null Het
Naaladl2 A G 3: 24,225,806 (GRCm39) V541A probably benign Het
Nbeal2 T C 9: 110,465,973 (GRCm39) T851A possibly damaging Het
Ncoa4 A G 14: 31,892,750 (GRCm39) Y11C probably benign Het
Ntn5 T A 7: 45,343,780 (GRCm39) probably null Het
Or10d4c A G 9: 39,557,957 (GRCm39) probably benign Het
Or1j18 C T 2: 36,624,444 (GRCm39) T37I probably benign Het
Otop2 A G 11: 115,220,318 (GRCm39) Y386C probably damaging Het
Ppp2r1a T A 17: 21,174,979 (GRCm39) probably null Het
Prkd2 C A 7: 16,599,830 (GRCm39) N764K possibly damaging Het
Ralgapa1 A G 12: 55,809,512 (GRCm39) L421S probably damaging Het
Ric3 G A 7: 108,647,269 (GRCm39) R184* probably null Het
Sfswap A G 5: 129,618,505 (GRCm39) K480E probably damaging Het
Siah2 A G 3: 58,598,974 (GRCm39) V88A probably benign Het
Slc22a16 T C 10: 40,461,298 (GRCm39) F367L probably damaging Het
Slc23a2 T C 2: 131,920,356 (GRCm39) D183G probably benign Het
Svep1 T C 4: 58,123,180 (GRCm39) N712S possibly damaging Het
Tex21 A G 12: 76,286,283 (GRCm39) V72A probably benign Het
Tfap4 A G 16: 4,367,311 (GRCm39) Y184H probably damaging Het
Timeless T C 10: 128,076,504 (GRCm39) Y138H probably damaging Het
Tln2 A T 9: 67,293,946 (GRCm39) N227K possibly damaging Het
Trip10 C T 17: 57,563,899 (GRCm39) P342S probably benign Het
Ttc6 A T 12: 57,735,426 (GRCm39) E1156V probably damaging Het
Ttn T C 2: 76,728,472 (GRCm39) probably benign Het
Vmn2r109 G A 17: 20,774,785 (GRCm39) S190L possibly damaging Het
Wdr54 A G 6: 83,132,109 (GRCm39) S99P probably damaging Het
Ythdf2 A C 4: 131,932,272 (GRCm39) I296R probably benign Het
Zfp445 A G 9: 122,691,123 (GRCm39) V24A 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
R6387:Ankrd31 UTSW 13 96,967,081 (GRCm39) missense probably damaging 0.99
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
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'- GGCTGTGGTCTATAGTTTTATTAAGCA -3'
(R):5'- TTTCCGAGAAGCAACTGTGTTTAGTAC -3'

Sequencing Primer
(F):5'- CCTTGGAAGGGAACTTGT -3'
(R):5'- GCTCATATGCTCAAGCGATG -3'
Posted On 2018-08-01