Incidental Mutation 'R6580:Ankrd49'
ID 524090
Institutional Source Beutler Lab
Gene Symbol Ankrd49
Ensembl Gene ENSMUSG00000031931
Gene Name ankyrin repeat domain 49
Synonyms Gbif
MMRRC Submission 044704-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R6580 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 14690916-14695869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14692694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 157 (S157P)
Ref Sequence ENSEMBL: ENSMUSP00000151079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034405] [ENSMUST00000034406] [ENSMUST00000115632] [ENSMUST00000147305] [ENSMUST00000214456] [ENSMUST00000216037] [ENSMUST00000216372] [ENSMUST00000214979] [ENSMUST00000215820]
AlphaFold Q8VE42
Predicted Effect probably benign
Transcript: ENSMUST00000034405
SMART Domains Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928

DomainStartEndE-ValueType
Pfam:Metallophos 13 249 6.3e-15 PFAM
Mre11_DNA_bind 294 462 1.72e-70 SMART
coiled coil region 487 519 N/A INTRINSIC
low complexity region 566 594 N/A INTRINSIC
low complexity region 683 699 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000034406
AA Change: S157P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034406
Gene: ENSMUSG00000031931
AA Change: S157P

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 50 60 N/A INTRINSIC
ANK 72 102 1.02e3 SMART
ANK 106 135 7.24e-7 SMART
ANK 139 168 1.94e-7 SMART
ANK 172 203 1.37e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115632
SMART Domains Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928

DomainStartEndE-ValueType
Pfam:Metallophos 13 249 1.1e-31 PFAM
Mre11_DNA_bind 294 435 7.6e-49 SMART
coiled coil region 460 492 N/A INTRINSIC
low complexity region 539 567 N/A INTRINSIC
low complexity region 656 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147305
SMART Domains Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928

DomainStartEndE-ValueType
Pfam:Metallophos 13 199 1.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214882
Predicted Effect probably damaging
Transcript: ENSMUST00000216037
AA Change: S157P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000216372
AA Change: S157P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000214979
Predicted Effect probably benign
Transcript: ENSMUST00000215820
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 97% (32/33)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,386 (GRCm39) R525H probably benign Het
Acox3 T A 5: 35,765,747 (GRCm39) L600Q probably damaging Het
Ccdc141 A G 2: 76,842,099 (GRCm39) F1444S possibly damaging Het
Cimap2 G T 4: 106,468,711 (GRCm39) H271N possibly damaging Het
Defb28 C T 2: 152,360,215 (GRCm39) S10L possibly damaging Het
Epha6 T G 16: 59,502,979 (GRCm39) N976T probably damaging Het
Gm45861 A G 8: 28,034,979 (GRCm39) K976E unknown Het
Gtf2ird1 T G 5: 134,389,893 (GRCm39) N920H probably damaging Het
Gtf3c1 A T 7: 125,243,519 (GRCm39) M1695K probably benign Het
Hfm1 C T 5: 106,995,575 (GRCm39) E1279K probably benign Het
Il31ra C T 13: 112,688,476 (GRCm39) D34N possibly damaging Het
Klhl3 T A 13: 58,166,701 (GRCm39) I430F possibly damaging Het
Mfhas1 A G 8: 36,056,419 (GRCm39) Y298C probably damaging Het
Muc20 A T 16: 32,613,859 (GRCm39) M506K possibly damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Naip1 T A 13: 100,581,157 (GRCm39) D30V probably damaging Het
Nol9 A G 4: 152,136,218 (GRCm39) N430S probably benign Het
Or8b44 T C 9: 38,410,319 (GRCm39) M118T probably damaging Het
Palm3 A G 8: 84,756,177 (GRCm39) E563G probably damaging Het
Pcdhga4 A G 18: 37,820,370 (GRCm39) S640G possibly damaging Het
Pi4ka A G 16: 17,168,694 (GRCm39) F679L probably damaging Het
Pierce1 A G 2: 28,356,062 (GRCm39) W74R probably damaging Het
Polr3c A G 3: 96,634,659 (GRCm39) probably null Het
Ptdss2 T A 7: 140,732,925 (GRCm39) I236N probably damaging Het
Rapgef1 A G 2: 29,620,621 (GRCm39) Y879C possibly damaging Het
Shc3 T C 13: 51,596,809 (GRCm39) T405A probably benign Het
Smtnl2 G T 11: 72,293,859 (GRCm39) S232R probably benign Het
Taar8a G A 10: 23,952,791 (GRCm39) A132T probably damaging Het
Tex47 T C 5: 7,355,212 (GRCm39) I131T probably damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r63 A G 7: 5,805,913 (GRCm39) S240P probably benign Het
Vmn2r130 T C 17: 23,282,740 (GRCm39) V140A probably benign Het
Vmn2r84 A G 10: 130,225,110 (GRCm39) W467R possibly damaging Het
Zscan12 T C 13: 21,553,328 (GRCm39) L384P probably damaging Het
Other mutations in Ankrd49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Ankrd49 APN 9 14,694,099 (GRCm39) missense probably damaging 0.98
IGL01466:Ankrd49 APN 9 14,692,645 (GRCm39) missense probably damaging 0.99
R1677:Ankrd49 UTSW 9 14,692,674 (GRCm39) missense probably benign 0.00
R4626:Ankrd49 UTSW 9 14,693,936 (GRCm39) missense probably damaging 1.00
R4809:Ankrd49 UTSW 9 14,692,510 (GRCm39) missense possibly damaging 0.68
R6931:Ankrd49 UTSW 9 14,694,122 (GRCm39) missense probably benign 0.12
R7125:Ankrd49 UTSW 9 14,693,836 (GRCm39) frame shift probably null
R7485:Ankrd49 UTSW 9 14,693,837 (GRCm39) nonsense probably null
R8342:Ankrd49 UTSW 9 14,692,823 (GRCm39) missense probably damaging 1.00
R9397:Ankrd49 UTSW 9 14,692,711 (GRCm39) missense probably benign 0.07
Z1176:Ankrd49 UTSW 9 14,692,724 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCCTGGCGATATCAGAAG -3'
(R):5'- ATAGCTTGCTACAGTGCAGAG -3'

Sequencing Primer
(F):5'- CCTGGCGATATCAGAAGCAGTTTC -3'
(R):5'- TAGCTTGCTACAGTGCAGAGACTAC -3'
Posted On 2018-06-22