Incidental Mutation 'IGL00916:Ano4'
ID28322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano4
Ensembl Gene ENSMUSG00000035189
Gene Nameanoctamin 4
SynonymsA330096O15Rik, Tmem16d
Accession Numbers

Ncbi RefSeq: NM_178773.4; MGI: 2443344

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00916
Quality Score
Status
Chromosome10
Chromosomal Location88948994-89344762 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88998098 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 459 (I459V)
Ref Sequence ENSEMBL: ENSMUSP00000138193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182341] [ENSMUST00000182462] [ENSMUST00000182613] [ENSMUST00000182790]
Predicted Effect probably benign
Transcript: ENSMUST00000045601
AA Change: I288V
SMART Domains Protein: ENSMUSP00000043478
Gene: ENSMUSG00000035189
AA Change: I288V

DomainStartEndE-ValueType
Pfam:Anoct_dimer 16 165 2.7e-46 PFAM
Pfam:Anoctamin 168 750 1.9e-143 PFAM
low complexity region 761 774 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182341
AA Change: I459V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: I459V

DomainStartEndE-ValueType
Pfam:Anoctamin 339 922 4.8e-162 PFAM
low complexity region 932 945 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182462
Predicted Effect unknown
Transcript: ENSMUST00000182598
AA Change: I21V
Predicted Effect probably benign
Transcript: ENSMUST00000182613
AA Change: I424V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: I424V

DomainStartEndE-ValueType
Pfam:Anoctamin 304 887 3.6e-162 PFAM
low complexity region 897 910 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182790
AA Change: I424V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: I424V

DomainStartEndE-ValueType
Pfam:Anoctamin 304 887 3.6e-162 PFAM
low complexity region 897 910 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182888
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,852 Q762L probably benign Het
Aldh1a1 T C 19: 20,619,997 V114A probably benign Het
Atad5 C T 11: 80,119,000 P1199S probably damaging Het
Bmp10 T C 6: 87,429,160 F43S possibly damaging Het
Cd96 T C 16: 46,041,312 E505G probably benign Het
D17Wsu92e A G 17: 27,767,919 Y278H probably damaging Het
Eapp T C 12: 54,692,808 T75A possibly damaging Het
Emilin1 T C 5: 30,913,902 Y10H probably damaging Het
Ercc6 A G 14: 32,562,655 probably benign Het
Gucy2e T C 11: 69,223,097 I1089V possibly damaging Het
H6pd C A 4: 149,994,468 probably null Het
Igsf10 A T 3: 59,331,127 F544L probably damaging Het
Il23r T C 6: 67,473,931 Y188C probably damaging Het
Inpp5j T C 11: 3,502,389 E287G probably damaging Het
Lrp6 T C 6: 134,484,289 D735G probably damaging Het
Mast2 A T 4: 116,327,633 M240K possibly damaging Het
Mreg T A 1: 72,164,132 T96S probably benign Het
Mta2 A T 19: 8,947,101 M220L probably benign Het
Mycbp2 A G 14: 103,291,283 probably benign Het
Naip2 T A 13: 100,161,431 N699I probably damaging Het
Ncapg T G 5: 45,671,192 I95S probably benign Het
Ndufa13 A G 8: 69,894,419 probably benign Het
Nol10 T A 12: 17,361,129 probably benign Het
Parp8 T A 13: 116,927,323 I85F probably damaging Het
Rgs2 T A 1: 144,002,229 I78F probably damaging Het
Rpia C T 6: 70,775,102 probably benign Het
Sec63 T C 10: 42,812,457 S488P possibly damaging Het
Tfcp2 T G 15: 100,520,678 H201P probably damaging Het
Tnfaip2 T G 12: 111,453,549 I705R probably damaging Het
Ttf1 A G 2: 29,070,042 N554S probably benign Het
Ulk1 A G 5: 110,793,011 S351P probably damaging Het
Zp2 T A 7: 120,138,174 N264Y probably damaging Het
Other mutations in Ano4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Ano4 APN 10 88954667 missense probably damaging 1.00
IGL01010:Ano4 APN 10 88960600 missense probably benign 0.14
IGL01015:Ano4 APN 10 89035099 missense probably damaging 1.00
IGL01877:Ano4 APN 10 89025070 nonsense probably null 0.00
IGL02310:Ano4 APN 10 89023878 nonsense probably null
IGL02390:Ano4 APN 10 89024981 missense possibly damaging 0.88
IGL02560:Ano4 APN 10 88978741 nonsense probably null
Dwindle UTSW 10 88983778 missense probably damaging 0.98
P0017:Ano4 UTSW 10 88981190 nonsense probably null
PIT4486001:Ano4 UTSW 10 88993029 missense probably damaging 1.00
R0126:Ano4 UTSW 10 88952292 missense possibly damaging 0.73
R0380:Ano4 UTSW 10 88978813 missense possibly damaging 0.82
R0508:Ano4 UTSW 10 88980977 missense probably damaging 1.00
R0540:Ano4 UTSW 10 89023944 missense probably benign 0.00
R1802:Ano4 UTSW 10 88981016 missense probably damaging 1.00
R1864:Ano4 UTSW 10 88971391 missense probably damaging 1.00
R1871:Ano4 UTSW 10 88993027 missense probably damaging 1.00
R2829:Ano4 UTSW 10 89112939 missense possibly damaging 0.58
R2880:Ano4 UTSW 10 89112799 missense probably damaging 1.00
R3846:Ano4 UTSW 10 88995252 missense possibly damaging 0.93
R3904:Ano4 UTSW 10 89025005 missense probably damaging 1.00
R4006:Ano4 UTSW 10 89088263 missense probably benign 0.18
R4429:Ano4 UTSW 10 88992942 missense probably damaging 0.99
R4547:Ano4 UTSW 10 88981170 missense probably null
R4638:Ano4 UTSW 10 88954697 missense probably damaging 1.00
R4640:Ano4 UTSW 10 88954697 missense probably damaging 1.00
R4876:Ano4 UTSW 10 89112835 missense probably damaging 1.00
R5007:Ano4 UTSW 10 89112945 missense probably benign 0.26
R5104:Ano4 UTSW 10 89068112 missense possibly damaging 0.61
R5151:Ano4 UTSW 10 89112913 missense probably damaging 1.00
R5215:Ano4 UTSW 10 89317303 missense possibly damaging 0.86
R5396:Ano4 UTSW 10 89112840 missense probably damaging 1.00
R5826:Ano4 UTSW 10 88952327 missense probably damaging 1.00
R6018:Ano4 UTSW 10 89029266 missense probably benign 0.01
R6036:Ano4 UTSW 10 88982265 missense possibly damaging 0.95
R6036:Ano4 UTSW 10 88982265 missense possibly damaging 0.95
R6037:Ano4 UTSW 10 89317246 missense possibly damaging 0.93
R6037:Ano4 UTSW 10 89317246 missense possibly damaging 0.93
R6222:Ano4 UTSW 10 89027222 missense probably damaging 1.00
R6387:Ano4 UTSW 10 88971405 nonsense probably null
R6521:Ano4 UTSW 10 88983778 missense probably damaging 0.98
R6739:Ano4 UTSW 10 89027252 missense probably damaging 1.00
R6786:Ano4 UTSW 10 88992870 splice site probably null
R7035:Ano4 UTSW 10 88954711 missense probably damaging 1.00
R7523:Ano4 UTSW 10 88971395 nonsense probably null
R7715:Ano4 UTSW 10 88995311 missense probably damaging 0.99
R8005:Ano4 UTSW 10 88971321 missense not run
R8024:Ano4 UTSW 10 88971332 missense not run
T0970:Ano4 UTSW 10 88981190 nonsense probably null
Z1176:Ano4 UTSW 10 89112945 missense not run
Posted On2013-04-17