Incidental Mutation 'R3940:Ankrd42'
ID 307410
Institutional Source Beutler Lab
Gene Symbol Ankrd42
Ensembl Gene ENSMUSG00000041343
Gene Name ankyrin repeat domain 42
Synonyms Ikbn, 4933417L02Rik
MMRRC Submission 040922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R3940 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 92230931-92286350 bp(-) (GRCm39)
Type of Mutation splice site (43 bp from exon)
DNA Base Change (assembly) T to C at 92240996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056106] [ENSMUST00000118157] [ENSMUST00000126305]
AlphaFold Q3V096
Predicted Effect probably null
Transcript: ENSMUST00000056106
SMART Domains Protein: ENSMUSP00000061208
Gene: ENSMUSG00000041343

DomainStartEndE-ValueType
ANK 25 54 1.1e2 SMART
ANK 59 88 7.3e-3 SMART
ANK 92 121 6.71e-2 SMART
ANK 125 154 1.48e-3 SMART
ANK 158 187 2.11e2 SMART
ANK 191 220 9.78e-4 SMART
ANK 263 293 1.33e2 SMART
ANK 297 326 1.22e-4 SMART
coiled coil region 437 489 N/A INTRINSIC
low complexity region 494 507 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118157
SMART Domains Protein: ENSMUSP00000113767
Gene: ENSMUSG00000041343

DomainStartEndE-ValueType
ANK 25 54 1.1e2 SMART
ANK 59 88 7.3e-3 SMART
ANK 92 121 6.71e-2 SMART
ANK 125 154 1.48e-3 SMART
ANK 158 187 2.11e2 SMART
ANK 191 220 9.78e-4 SMART
ANK 263 293 1.33e2 SMART
ANK 297 326 1.22e-4 SMART
coiled coil region 437 489 N/A INTRINSIC
low complexity region 494 507 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126305
SMART Domains Protein: ENSMUSP00000123315
Gene: ENSMUSG00000041343

DomainStartEndE-ValueType
ANK 25 54 1.1e2 SMART
ANK 59 88 7.3e-3 SMART
ANK 92 121 6.71e-2 SMART
ANK 125 154 2.92e-2 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (35/37)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Acsm3 A G 7: 119,373,109 (GRCm39) E204G probably benign Het
Acta2 A T 19: 34,220,880 (GRCm39) I276N possibly damaging Het
Ankrd16 T C 2: 11,789,192 (GRCm39) C260R probably benign Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Calm5 A T 13: 3,904,485 (GRCm39) I37F possibly damaging Het
Casq1 A G 1: 172,047,103 (GRCm39) V52A possibly damaging Het
Col22a1 A T 15: 71,853,782 (GRCm39) L260* probably null Het
Cttnbp2 C A 6: 18,420,974 (GRCm39) V846L probably benign Het
Dnah12 A G 14: 26,444,754 (GRCm39) T627A probably benign Het
Eogt T C 6: 97,090,875 (GRCm39) I421M probably damaging Het
Fam135a T A 1: 24,096,556 (GRCm39) H63L probably damaging Het
Fmo3 T A 1: 162,791,555 (GRCm39) T241S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gm14393 T C 2: 174,903,420 (GRCm39) probably null Het
Kcna5 C T 6: 126,510,614 (GRCm39) V505I probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Or7a41 T A 10: 78,871,038 (GRCm39) I136N probably damaging Het
Or8k40 T A 2: 86,584,275 (GRCm39) D269V possibly damaging Het
Pcdhb7 T C 18: 37,477,021 (GRCm39) L719P probably damaging Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pik3ip1 A G 11: 3,281,987 (GRCm39) N48S probably damaging Het
Pkn2 G A 3: 142,499,672 (GRCm39) S951L probably damaging Het
Prrc2a T C 17: 35,376,474 (GRCm39) H772R possibly damaging Het
Ric1 T C 19: 29,548,162 (GRCm39) Y277H probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf123 A T 9: 107,941,234 (GRCm39) probably benign Het
Robo1 T C 16: 72,806,631 (GRCm39) S1166P probably benign Het
S100a10 A G 3: 93,468,383 (GRCm39) E38G probably benign Het
Slc34a1 A T 13: 55,560,983 (GRCm39) I483F probably damaging Het
Stim1 A G 7: 102,084,848 (GRCm39) N600S probably benign Het
Ube3c T A 5: 29,824,358 (GRCm39) N517K probably benign Het
Other mutations in Ankrd42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Ankrd42 APN 7 92,233,662 (GRCm39) utr 3 prime probably benign
IGL01151:Ankrd42 APN 7 92,254,408 (GRCm39) unclassified probably benign
IGL01444:Ankrd42 APN 7 92,259,793 (GRCm39) missense probably damaging 0.96
IGL01933:Ankrd42 APN 7 92,254,493 (GRCm39) missense probably benign
IGL03195:Ankrd42 APN 7 92,241,066 (GRCm39) missense probably benign 0.33
IGL03397:Ankrd42 APN 7 92,268,762 (GRCm39) missense probably damaging 1.00
R0128:Ankrd42 UTSW 7 92,241,067 (GRCm39) nonsense probably null
R0278:Ankrd42 UTSW 7 92,280,865 (GRCm39) missense possibly damaging 0.82
R0839:Ankrd42 UTSW 7 92,261,980 (GRCm39) missense possibly damaging 0.92
R1227:Ankrd42 UTSW 7 92,254,508 (GRCm39) missense possibly damaging 0.53
R1603:Ankrd42 UTSW 7 92,268,899 (GRCm39) intron probably benign
R2281:Ankrd42 UTSW 7 92,274,981 (GRCm39) nonsense probably null
R2299:Ankrd42 UTSW 7 92,239,462 (GRCm39) missense probably benign 0.33
R2324:Ankrd42 UTSW 7 92,273,186 (GRCm39) missense probably damaging 0.98
R2874:Ankrd42 UTSW 7 92,254,566 (GRCm39) missense possibly damaging 0.71
R4998:Ankrd42 UTSW 7 92,273,282 (GRCm39) missense possibly damaging 0.71
R5579:Ankrd42 UTSW 7 92,239,390 (GRCm39) missense possibly damaging 0.96
R5954:Ankrd42 UTSW 7 92,273,175 (GRCm39) critical splice donor site probably null
R6140:Ankrd42 UTSW 7 92,241,036 (GRCm39) splice site probably null
R6924:Ankrd42 UTSW 7 92,231,224 (GRCm39) unclassified probably benign
R6944:Ankrd42 UTSW 7 92,268,755 (GRCm39) critical splice donor site probably null
R7096:Ankrd42 UTSW 7 92,241,040 (GRCm39) nonsense probably null
R7101:Ankrd42 UTSW 7 92,280,752 (GRCm39) missense possibly damaging 0.53
R7155:Ankrd42 UTSW 7 92,241,141 (GRCm39) missense possibly damaging 0.72
R7410:Ankrd42 UTSW 7 92,259,762 (GRCm39) missense possibly damaging 0.93
R7500:Ankrd42 UTSW 7 92,241,080 (GRCm39) missense probably benign 0.33
R7640:Ankrd42 UTSW 7 92,268,843 (GRCm39) missense probably benign 0.14
R7737:Ankrd42 UTSW 7 92,254,470 (GRCm39) missense possibly damaging 0.53
R8669:Ankrd42 UTSW 7 92,268,881 (GRCm39) missense possibly damaging 0.51
R8794:Ankrd42 UTSW 7 92,263,674 (GRCm39) missense probably benign 0.32
R9646:Ankrd42 UTSW 7 92,273,257 (GRCm39) missense possibly damaging 0.84
X0065:Ankrd42 UTSW 7 92,259,763 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGGGCTGACAACACTACATTG -3'
(R):5'- TGCCTTTCAGTGAGAGCTC -3'

Sequencing Primer
(F):5'- ATAGTCCTGTCTGTCCTAGAACTCAG -3'
(R):5'- GCCTTTCAGTGAGAGCTCATAAG -3'
Posted On 2015-04-17