Incidental Mutation 'R3700:Ankrd29'
ID 269981
Institutional Source Beutler Lab
Gene Symbol Ankrd29
Ensembl Gene ENSMUSG00000057766
Gene Name ankyrin repeat domain 29
Synonyms G630054C21Rik
MMRRC Submission 040693-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # R3700 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 12385419-12438854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12387757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 275 (A275V)
Ref Sequence ENSEMBL: ENSMUSP00000114028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118525] [ENSMUST00000122408]
AlphaFold D3YVV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000118525
AA Change: A275V

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114028
Gene: ENSMUSG00000057766
AA Change: A275V

DomainStartEndE-ValueType
ANK 11 41 3.04e0 SMART
ANK 45 74 9.93e-5 SMART
ANK 78 107 1.09e-1 SMART
ANK 111 140 1.2e-3 SMART
ANK 144 173 3.76e-5 SMART
ANK 177 206 1.02e-1 SMART
ANK 210 239 1.52e0 SMART
ANK 242 271 3.01e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122408
AA Change: A242V

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112888
Gene: ENSMUSG00000057766
AA Change: A242V

DomainStartEndE-ValueType
ANK 11 41 3.04e0 SMART
ANK 45 74 9.93e-5 SMART
ANK 78 107 1.09e-1 SMART
ANK 111 140 1.2e-3 SMART
ANK 144 173 3.76e-5 SMART
ANK 177 206 1.02e-1 SMART
ANK 210 239 1.52e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137948
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 G A 18: 65,438,222 (GRCm39) T1524I probably damaging Het
Arhgap26 T A 18: 39,253,237 (GRCm39) F221L probably damaging Het
Arhgap28 T C 17: 68,208,361 (GRCm39) S36G probably damaging Het
Bcl11a A G 11: 24,113,890 (GRCm39) D411G probably damaging Het
Cdh23 C A 10: 60,163,149 (GRCm39) probably null Het
Cnnm2 T A 19: 46,750,990 (GRCm39) I260N probably damaging Het
Coro6 T C 11: 77,358,129 (GRCm39) F238S probably damaging Het
Ddah1 G A 3: 145,597,250 (GRCm39) M162I probably benign Het
Dnah5 T C 15: 28,387,937 (GRCm39) I3132T possibly damaging Het
Drgx A T 14: 32,350,818 (GRCm39) E218V probably damaging Het
Dync2i1 C T 12: 116,175,462 (GRCm39) W905* probably null Het
Eif3f A T 7: 108,539,482 (GRCm39) I251F probably benign Het
Ephx4 T C 5: 107,550,673 (GRCm39) F11L probably benign Het
Esp1 T C 17: 41,041,998 (GRCm39) S97P unknown Het
Fbxw10 A T 11: 62,759,983 (GRCm39) probably null Het
Hsp90ab1 T C 17: 45,882,440 (GRCm39) T85A possibly damaging Het
Idh2 T C 7: 79,748,895 (GRCm39) K129E probably damaging Het
Kcnj6 A G 16: 94,633,865 (GRCm39) I64T probably damaging Het
Klk1b5 T A 7: 43,500,251 (GRCm39) C280S probably damaging Het
Lhx2 T A 2: 38,250,111 (GRCm39) L269H probably damaging Het
Lrrc71 T A 3: 87,653,185 (GRCm39) probably null Het
Lss T A 10: 76,382,026 (GRCm39) L484Q probably damaging Het
Mmp14 G A 14: 54,669,389 (GRCm39) probably benign Het
Muc5b A G 7: 141,400,986 (GRCm39) T534A unknown Het
Mysm1 T C 4: 94,858,889 (GRCm39) K87E probably benign Het
Or6d13 T A 6: 116,517,489 (GRCm39) V25E probably benign Het
Or6f2 C G 7: 139,756,127 (GRCm39) F37L possibly damaging Het
Pcolce T C 5: 137,607,309 (GRCm39) T61A probably damaging Het
Phc3 C A 3: 30,968,277 (GRCm39) D920Y probably damaging Het
Pi4kb T C 3: 94,901,599 (GRCm39) I422T probably benign Het
Piezo1 C T 8: 123,221,642 (GRCm39) R584H probably damaging Het
Plce1 T A 19: 38,693,781 (GRCm39) F768Y probably damaging Het
Ppp1r21 T C 17: 88,889,882 (GRCm39) S709P possibly damaging Het
Prdx6 T C 1: 161,074,858 (GRCm39) D74G probably damaging Het
Rlf A G 4: 121,008,060 (GRCm39) F307L possibly damaging Het
Skic2 T C 17: 35,068,879 (GRCm39) E40G probably benign Het
Snapin G A 3: 90,397,499 (GRCm39) R91* probably null Het
Sort1 T A 3: 108,263,955 (GRCm39) L838* probably null Het
Sstr4 A G 2: 148,238,273 (GRCm39) I295V possibly damaging Het
Stk39 T A 2: 68,222,462 (GRCm39) I201F probably damaging Het
Tasp1 T C 2: 139,752,474 (GRCm39) T322A probably benign Het
Tepsin C T 11: 119,982,579 (GRCm39) C491Y possibly damaging Het
Tlr9 G A 9: 106,101,278 (GRCm39) V190M probably damaging Het
Ttf2 A G 3: 100,858,324 (GRCm39) L755P probably damaging Het
Txn2 G A 15: 77,811,976 (GRCm39) T60M possibly damaging Het
Vmn1r10 A G 6: 57,091,287 (GRCm39) N293S probably benign Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r111 C T 17: 22,790,142 (GRCm39) W288* probably null Het
Vmn2r118 T C 17: 55,915,421 (GRCm39) S510G possibly damaging Het
Zgpat T A 2: 181,007,439 (GRCm39) probably benign Het
Zzef1 G T 11: 72,777,598 (GRCm39) G1810C probably null Het
Other mutations in Ankrd29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02806:Ankrd29 APN 18 12,408,795 (GRCm39) missense probably benign 0.00
IGL02956:Ankrd29 APN 18 12,393,993 (GRCm39) missense probably damaging 1.00
R0456:Ankrd29 UTSW 18 12,429,036 (GRCm39) missense probably damaging 1.00
R2879:Ankrd29 UTSW 18 12,387,757 (GRCm39) missense possibly damaging 0.83
R3693:Ankrd29 UTSW 18 12,387,757 (GRCm39) missense possibly damaging 0.83
R3694:Ankrd29 UTSW 18 12,387,757 (GRCm39) missense possibly damaging 0.83
R3699:Ankrd29 UTSW 18 12,387,757 (GRCm39) missense possibly damaging 0.83
R4130:Ankrd29 UTSW 18 12,387,757 (GRCm39) missense possibly damaging 0.83
R4132:Ankrd29 UTSW 18 12,387,757 (GRCm39) missense possibly damaging 0.83
R4745:Ankrd29 UTSW 18 12,387,679 (GRCm39) missense probably benign 0.00
R4989:Ankrd29 UTSW 18 12,395,242 (GRCm39) missense probably damaging 1.00
R5531:Ankrd29 UTSW 18 12,412,835 (GRCm39) missense probably damaging 1.00
R5985:Ankrd29 UTSW 18 12,412,832 (GRCm39) missense probably damaging 1.00
R6187:Ankrd29 UTSW 18 12,412,747 (GRCm39) nonsense probably null
R6627:Ankrd29 UTSW 18 12,395,221 (GRCm39) missense probably benign 0.02
R6895:Ankrd29 UTSW 18 12,394,046 (GRCm39) missense probably benign 0.36
R7671:Ankrd29 UTSW 18 12,394,043 (GRCm39) missense probably damaging 0.96
R7918:Ankrd29 UTSW 18 12,428,979 (GRCm39) missense probably damaging 1.00
R9043:Ankrd29 UTSW 18 12,428,970 (GRCm39) missense probably damaging 1.00
R9147:Ankrd29 UTSW 18 12,408,760 (GRCm39) unclassified probably benign
R9148:Ankrd29 UTSW 18 12,408,760 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TATAGGGCAGTGTGAGAAGCCC -3'
(R):5'- GAGAACAGCGGGTACTACTTC -3'

Sequencing Primer
(F):5'- CCACAGGGCAGACATTCTTTC -3'
(R):5'- GAACAGCGGGTACTACTTCTCATTAG -3'
Posted On 2015-03-18