Incidental Mutation 'R1192:Anks4b'
ID 100884
Institutional Source Beutler Lab
Gene Symbol Anks4b
Ensembl Gene ENSMUSG00000030909
Gene Name ankyrin repeat and sterile alpha motif domain containing 4B
Synonyms 2010013E14Rik, Harp
MMRRC Submission 039264-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1192 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119773081-119782939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119773289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 50 (I50L)
Ref Sequence ENSEMBL: ENSMUSP00000033201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033201]
AlphaFold Q8K3X6
Predicted Effect probably benign
Transcript: ENSMUST00000033201
AA Change: I50L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909
AA Change: I50L

DomainStartEndE-ValueType
ANK 31 60 1.03e-2 SMART
ANK 64 93 6.3e-7 SMART
ANK 97 126 3.69e2 SMART
coiled coil region 131 165 N/A INTRINSIC
low complexity region 170 189 N/A INTRINSIC
coiled coil region 303 335 N/A INTRINSIC
SAM 346 411 6.52e-8 SMART
Meta Mutation Damage Score 0.0793 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 97% (32/33)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahrr T A 13: 74,362,522 (GRCm39) M326L probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ankmy1 T C 1: 92,811,616 (GRCm39) T591A probably damaging Het
Arhgef3 C A 14: 27,101,663 (GRCm39) T133N probably damaging Het
Arrdc1 T C 2: 24,816,152 (GRCm39) I284V probably benign Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
Ccdc88a T A 11: 29,454,049 (GRCm39) D717E possibly damaging Het
Cdh22 A T 2: 164,977,203 (GRCm39) F439I probably damaging Het
Creld1 G T 6: 113,466,440 (GRCm39) C169F probably damaging Het
Ctsq T A 13: 61,186,859 (GRCm39) N78I probably damaging Het
Eif4g3 T A 4: 137,898,497 (GRCm39) H1089Q probably damaging Het
Eri2 G T 7: 119,391,540 (GRCm39) D41E probably damaging Het
Exosc9 C T 3: 36,606,904 (GRCm39) probably benign Het
Galnt14 C T 17: 73,852,133 (GRCm39) probably benign Het
Gen1 C T 12: 11,305,219 (GRCm39) G192D probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ints14 T C 9: 64,874,045 (GRCm39) V99A possibly damaging Het
Iqsec1 G A 6: 90,648,958 (GRCm39) probably benign Het
Jarid2 G T 13: 45,060,021 (GRCm39) R713L probably damaging Het
Nans T C 4: 46,502,430 (GRCm39) probably benign Het
Nkiras2 T C 11: 100,516,806 (GRCm39) probably null Het
Obscn A T 11: 58,958,025 (GRCm39) D3558E probably benign Het
Or6c66 C T 10: 129,461,906 (GRCm39) S8N probably benign Het
Palb2 G A 7: 121,727,432 (GRCm39) T146M probably benign Het
Pcgf3 T C 5: 108,634,054 (GRCm39) V104A probably benign Het
Polr3e A G 7: 120,532,531 (GRCm39) D189G probably benign Het
Rfc1 T C 5: 65,451,254 (GRCm39) K278R probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Shcbp1l T A 1: 153,301,253 (GRCm39) I95N possibly damaging Het
Shox2 G A 3: 66,881,243 (GRCm39) Q246* probably null Het
Slc16a4 G C 3: 107,206,189 (GRCm39) E86D probably benign Het
Tubgcp2 A G 7: 139,609,751 (GRCm39) V202A probably benign Het
Other mutations in Anks4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Anks4b APN 7 119,773,148 (GRCm39) missense possibly damaging 0.69
IGL01830:Anks4b APN 7 119,773,219 (GRCm39) missense probably damaging 1.00
IGL02490:Anks4b APN 7 119,773,241 (GRCm39) missense probably damaging 1.00
IGL02820:Anks4b APN 7 119,781,914 (GRCm39) unclassified probably benign
IGL03074:Anks4b APN 7 119,781,140 (GRCm39) missense probably damaging 1.00
R0383:Anks4b UTSW 7 119,782,097 (GRCm39) missense probably damaging 1.00
R0747:Anks4b UTSW 7 119,781,386 (GRCm39) missense probably damaging 0.96
R1125:Anks4b UTSW 7 119,781,580 (GRCm39) missense possibly damaging 0.66
R3079:Anks4b UTSW 7 119,781,146 (GRCm39) missense probably damaging 1.00
R3080:Anks4b UTSW 7 119,781,146 (GRCm39) missense probably damaging 1.00
R5542:Anks4b UTSW 7 119,781,646 (GRCm39) nonsense probably null
R5954:Anks4b UTSW 7 119,781,396 (GRCm39) missense possibly damaging 0.92
R6001:Anks4b UTSW 7 119,781,941 (GRCm39) missense probably benign 0.30
R6920:Anks4b UTSW 7 119,782,231 (GRCm39) missense probably damaging 1.00
R7921:Anks4b UTSW 7 119,781,992 (GRCm39) missense probably benign 0.12
R7946:Anks4b UTSW 7 119,781,707 (GRCm39) missense probably benign 0.00
R7966:Anks4b UTSW 7 119,781,923 (GRCm39) missense probably benign 0.00
R8755:Anks4b UTSW 7 119,773,307 (GRCm39) critical splice donor site probably null
R9259:Anks4b UTSW 7 119,773,278 (GRCm39) missense probably benign 0.04
Z1088:Anks4b UTSW 7 119,781,742 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTCTACCCGCTATCACCAAGCAG -3'
(R):5'- ATTCAGCTTACACCAAGGCCGAG -3'

Sequencing Primer
(F):5'- TATCACCAAGCAGCGAGTG -3'
(R):5'- CTGCCTGAGTGACTCCTAAATGG -3'
Posted On 2014-01-15