Incidental Mutation 'IGL01060:Anks4b'
ID51410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anks4b
Ensembl Gene ENSMUSG00000030909
Gene Nameankyrin repeat and sterile alpha motif domain containing 4B
Synonyms2010013E14Rik, Harp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01060
Quality Score
Status
Chromosome7
Chromosomal Location120173858-120185586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120173925 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 3 (T3A)
Ref Sequence ENSEMBL: ENSMUSP00000033201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033201]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033201
AA Change: T3A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909
AA Change: T3A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Arhgef26 T A 3: 62,340,121 S209T probably benign Het
Ccdc78 A G 17: 25,788,832 D281G probably damaging Het
Ccnb3 A T X: 6,980,274 N1362K probably benign Het
Dnah2 T C 11: 69,478,092 N1662S possibly damaging Het
Ern2 T A 7: 122,170,092 R904W probably damaging Het
Fam120c C T X: 151,469,587 P1045S probably benign Het
Gm12887 C T 4: 121,616,413 probably benign Het
Gpld1 G A 13: 24,982,566 G627S probably damaging Het
Ikbkap C T 4: 56,784,537 probably null Het
Krt77 T A 15: 101,860,880 probably benign Het
Ltf A T 9: 111,022,882 probably null Het
Map3k6 G T 4: 133,247,302 probably null Het
Nsd1 G A 13: 55,263,429 G1431D probably damaging Het
Plekhm2 C T 4: 141,642,645 probably null Het
Popdc2 T A 16: 38,373,965 N249K probably damaging Het
Ppm1h A G 10: 122,907,571 D400G possibly damaging Het
Rps6ka1 A T 4: 133,860,870 S320T probably damaging Het
Rsph6a C T 7: 19,054,868 R42* probably null Het
Sap130 T C 18: 31,715,443 L967P probably damaging Het
Smyd2 T C 1: 189,897,470 E121G possibly damaging Het
Sspo G A 6: 48,449,479 W144* probably null Het
Taar6 A G 10: 23,985,072 V192A probably benign Het
Tbc1d24 A T 17: 24,185,828 V114E probably damaging Het
Trim16 T C 11: 62,820,704 I67T probably benign Het
Ttll7 A G 3: 146,909,582 D267G possibly damaging Het
Ttn T C 2: 76,889,729 probably benign Het
Vmn2r56 T A 7: 12,713,089 I379F probably damaging Het
Zfp14 T C 7: 30,038,085 T492A probably damaging Het
Other mutations in Anks4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01830:Anks4b APN 7 120173996 missense probably damaging 1.00
IGL02490:Anks4b APN 7 120174018 missense probably damaging 1.00
IGL02820:Anks4b APN 7 120182691 unclassified probably benign
IGL03074:Anks4b APN 7 120181917 missense probably damaging 1.00
R0383:Anks4b UTSW 7 120182874 missense probably damaging 1.00
R0747:Anks4b UTSW 7 120182163 missense probably damaging 0.96
R1125:Anks4b UTSW 7 120182357 missense possibly damaging 0.66
R1192:Anks4b UTSW 7 120174066 missense probably benign 0.02
R3079:Anks4b UTSW 7 120181923 missense probably damaging 1.00
R3080:Anks4b UTSW 7 120181923 missense probably damaging 1.00
R5542:Anks4b UTSW 7 120182423 nonsense probably null
R5954:Anks4b UTSW 7 120182173 missense possibly damaging 0.92
R6001:Anks4b UTSW 7 120182718 missense probably benign 0.30
R6920:Anks4b UTSW 7 120183008 missense probably damaging 1.00
R7921:Anks4b UTSW 7 120182769 missense probably benign 0.12
R7946:Anks4b UTSW 7 120182484 missense probably benign 0.00
R7966:Anks4b UTSW 7 120182700 missense probably benign 0.00
R8755:Anks4b UTSW 7 120174084 critical splice donor site probably null
Z1088:Anks4b UTSW 7 120182519 missense probably benign 0.01
Posted On2013-06-21