Incidental Mutation 'R5597:Anks3'
ID 437893
Institutional Source Beutler Lab
Gene Symbol Anks3
Ensembl Gene ENSMUSG00000022515
Gene Name ankyrin repeat and sterile alpha motif domain containing 3
Synonyms 2700067D09Rik
MMRRC Submission 043149-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5597 (G1)
Quality Score 161
Status Validated
Chromosome 16
Chromosomal Location 4759300-4782069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4771793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 77 (H77L)
Ref Sequence ENSEMBL: ENSMUSP00000155720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023157] [ENSMUST00000229017] [ENSMUST00000229765]
AlphaFold Q9CZK6
Predicted Effect probably benign
Transcript: ENSMUST00000023157
AA Change: H200L

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: H200L

DomainStartEndE-ValueType
ANK 34 64 1.25e2 SMART
ANK 68 97 9.93e-5 SMART
ANK 101 130 9.13e-4 SMART
ANK 134 163 2.45e-4 SMART
ANK 168 197 9.27e-5 SMART
ANK 201 230 5.87e2 SMART
SAM 421 487 9.8e-12 SMART
coiled coil region 500 533 N/A INTRINSIC
low complexity region 559 573 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000229017
AA Change: H77L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229765
AA Change: H200L

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230771
Meta Mutation Damage Score 0.0949 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,927,363 (GRCm39) T1330I probably damaging Het
Aebp1 T C 11: 5,816,487 (GRCm39) V322A probably benign Het
Bsn A T 9: 107,992,131 (GRCm39) M1207K probably benign Het
Btla A G 16: 45,064,599 (GRCm39) T183A probably benign Het
Cdca8 G A 4: 124,812,793 (GRCm39) R286W probably damaging Het
Cnot6l T C 5: 96,278,978 (GRCm39) D80G probably damaging Het
Col16a1 A G 4: 129,952,097 (GRCm39) D93G probably damaging Het
Ctsk T C 3: 95,409,007 (GRCm39) V130A probably damaging Het
Cul9 T C 17: 46,813,591 (GRCm39) E2294G possibly damaging Het
Dcaf5 G T 12: 80,386,817 (GRCm39) S436R probably damaging Het
Dnah7a A T 1: 53,573,611 (GRCm39) L1792H probably benign Het
Dst T C 1: 34,231,794 (GRCm39) V3307A probably benign Het
Frrs1 C T 3: 116,671,887 (GRCm39) probably benign Het
Gimap4 T C 6: 48,667,698 (GRCm39) L151P probably damaging Het
Hook2 A G 8: 85,720,657 (GRCm39) N166S probably benign Het
Hp1bp3 A T 4: 137,948,939 (GRCm39) M1L possibly damaging Het
Igkv4-56 T A 6: 69,564,467 (GRCm39) noncoding transcript Het
Kdm6b C T 11: 69,296,900 (GRCm39) A456T probably damaging Het
Lamc1 A G 1: 153,127,716 (GRCm39) C396R probably damaging Het
Lars2 A T 9: 123,284,047 (GRCm39) D745V probably damaging Het
Macf1 A T 4: 123,433,570 (GRCm39) probably benign Het
Mapk4 T A 18: 74,070,341 (GRCm39) Y184F probably benign Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Msh2 T C 17: 88,030,789 (GRCm39) S889P probably benign Het
Nebl A G 2: 17,382,978 (GRCm39) S100P probably benign Het
Nudt7 A T 8: 114,878,506 (GRCm39) H154L probably benign Het
Olig2 A T 16: 91,023,768 (GRCm39) M161L probably benign Het
Or2ah1 T C 2: 85,653,804 (GRCm39) L163P probably damaging Het
Or5h24 A T 16: 58,918,710 (GRCm39) V215D unknown Het
Or6c214 T C 10: 129,590,755 (GRCm39) D188G probably damaging Het
Palmd T A 3: 116,717,225 (GRCm39) D424V probably damaging Het
Pdzk1ip1 A G 4: 114,950,689 (GRCm39) N164D probably damaging Het
Prkag1 A G 15: 98,713,789 (GRCm39) S14P probably damaging Het
Prss12 C T 3: 123,258,389 (GRCm39) P161L probably benign Het
Pwwp2a T C 11: 43,573,422 (GRCm39) V168A probably benign Het
Rassf7 A G 7: 140,797,024 (GRCm39) D79G probably damaging Het
Rgs3 A T 4: 62,542,082 (GRCm39) I19F probably damaging Het
Slc30a10 C A 1: 185,194,897 (GRCm39) H236Q probably damaging Het
Slco3a1 C A 7: 73,934,210 (GRCm39) R654L probably benign Het
Smad4 A C 18: 73,795,898 (GRCm39) F165L probably benign Het
Swsap1 G T 9: 21,867,242 (GRCm39) R62M probably damaging Het
Tenm4 T A 7: 96,202,724 (GRCm39) M113K probably benign Het
Tmem225 A G 9: 40,060,726 (GRCm39) N95S possibly damaging Het
Tnni3k A T 3: 154,577,765 (GRCm39) L658H probably damaging Het
Trem2 G A 17: 48,658,840 (GRCm39) V202I probably benign Het
Tyw1 C T 5: 130,303,498 (GRCm39) L289F probably benign Het
Vcam1 T A 3: 115,919,651 (GRCm39) D205V probably damaging Het
Vmn2r-ps158 A G 7: 42,674,073 (GRCm39) D377G probably benign Het
Yy1 A G 12: 108,781,436 (GRCm39) D367G probably damaging Het
Zfp11 A T 5: 129,734,166 (GRCm39) C432S probably benign Het
Other mutations in Anks3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Anks3 APN 16 4,771,793 (GRCm39) missense possibly damaging 0.93
IGL01705:Anks3 APN 16 4,765,587 (GRCm39) missense probably benign 0.00
IGL01953:Anks3 APN 16 4,778,408 (GRCm39) missense probably damaging 1.00
IGL02378:Anks3 APN 16 4,768,626 (GRCm39) missense possibly damaging 0.91
IGL03126:Anks3 APN 16 4,775,891 (GRCm39) missense probably damaging 1.00
R0051:Anks3 UTSW 16 4,765,613 (GRCm39) missense probably benign 0.16
R0051:Anks3 UTSW 16 4,765,613 (GRCm39) missense probably benign 0.16
R0661:Anks3 UTSW 16 4,766,198 (GRCm39) missense probably damaging 1.00
R0855:Anks3 UTSW 16 4,773,811 (GRCm39) splice site probably benign
R0932:Anks3 UTSW 16 4,771,691 (GRCm39) missense probably damaging 1.00
R1604:Anks3 UTSW 16 4,766,117 (GRCm39) missense probably damaging 0.99
R1773:Anks3 UTSW 16 4,765,158 (GRCm39) missense probably benign
R1846:Anks3 UTSW 16 4,771,748 (GRCm39) missense probably benign 0.07
R1928:Anks3 UTSW 16 4,763,918 (GRCm39) critical splice donor site probably null
R2323:Anks3 UTSW 16 4,768,634 (GRCm39) critical splice acceptor site probably null
R3916:Anks3 UTSW 16 4,765,143 (GRCm39) missense probably damaging 0.97
R5993:Anks3 UTSW 16 4,776,001 (GRCm39) missense probably damaging 1.00
R7345:Anks3 UTSW 16 4,773,774 (GRCm39) missense possibly damaging 0.88
R7373:Anks3 UTSW 16 4,773,735 (GRCm39) missense probably benign 0.00
R8710:Anks3 UTSW 16 4,775,976 (GRCm39) nonsense probably null
R9629:Anks3 UTSW 16 4,775,565 (GRCm39) missense probably damaging 0.99
R9691:Anks3 UTSW 16 4,759,840 (GRCm39) missense probably benign 0.00
R9698:Anks3 UTSW 16 4,766,113 (GRCm39) missense probably benign
Z1176:Anks3 UTSW 16 4,768,578 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- TTCCTTACTGCTCAGGGCTG -3'
(R):5'- TACTCTTGGTGAGGCACTTG -3'

Sequencing Primer
(F):5'- GCTGCCTCAACTCCATCAGG -3'
(R):5'- CCTTTTCCCTGTTGTAAAGGAGACAG -3'
Posted On 2016-10-26