Incidental Mutation 'R4006:Ano4'
ID 311486
Institutional Source Beutler Lab
Gene Symbol Ano4
Ensembl Gene ENSMUSG00000035189
Gene Name anoctamin 4
Synonyms Tmem16d, A330096O15Rik
MMRRC Submission 040845-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4006 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 88784856-89180624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88924125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 329 (V329L)
Ref Sequence ENSEMBL: ENSMUSP00000138435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000181976] [ENSMUST00000182341] [ENSMUST00000182419] [ENSMUST00000182462] [ENSMUST00000182613] [ENSMUST00000182790] [ENSMUST00000183268] [ENSMUST00000182624]
AlphaFold Q8C5H1
Predicted Effect unknown
Transcript: ENSMUST00000045601
SMART Domains Protein: ENSMUSP00000043478
Gene: ENSMUSG00000035189

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: ENSMUST00000181976
AA Change: V163L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182041
Predicted Effect probably benign
Transcript: ENSMUST00000182341
AA Change: V163L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: V163L

DomainStartEndE-ValueType
Pfam:Anoctamin 339 922 4.8e-162 PFAM
low complexity region 932 945 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182419
AA Change: V329L

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138435
Gene: ENSMUSG00000035189
AA Change: V329L

DomainStartEndE-ValueType
low complexity region 97 110 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182462
AA Change: V128L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000182613
AA Change: V128L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: V128L

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: V128L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: V128L

DomainStartEndE-ValueType
Pfam:Anoctamin 304 887 3.6e-162 PFAM
low complexity region 897 910 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183268
AA Change: V163L

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000182624
SMART Domains Protein: ENSMUSP00000138525
Gene: ENSMUSG00000035189

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,600 (GRCm39) probably null Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cimip1 T C 2: 173,367,880 (GRCm39) probably null Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Fbln2 C A 6: 91,246,943 (GRCm39) probably null Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or5e1 C T 7: 108,354,468 (GRCm39) T135I probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Prkcg G A 7: 3,375,983 (GRCm39) V492I probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I possibly damaging Het
Other mutations in Ano4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Ano4 APN 10 88,790,529 (GRCm39) missense probably damaging 1.00
IGL00916:Ano4 APN 10 88,833,960 (GRCm39) missense probably benign 0.01
IGL01010:Ano4 APN 10 88,796,462 (GRCm39) missense probably benign 0.14
IGL01015:Ano4 APN 10 88,870,961 (GRCm39) missense probably damaging 1.00
IGL01877:Ano4 APN 10 88,860,932 (GRCm39) nonsense probably null 0.00
IGL02310:Ano4 APN 10 88,859,740 (GRCm39) nonsense probably null
IGL02390:Ano4 APN 10 88,860,843 (GRCm39) missense possibly damaging 0.88
IGL02560:Ano4 APN 10 88,814,603 (GRCm39) nonsense probably null
Dwindle UTSW 10 88,819,640 (GRCm39) missense probably damaging 0.98
BB007:Ano4 UTSW 10 89,163,138 (GRCm39) missense possibly damaging 0.53
BB017:Ano4 UTSW 10 89,163,138 (GRCm39) missense possibly damaging 0.53
P0017:Ano4 UTSW 10 88,817,052 (GRCm39) nonsense probably null
PIT4486001:Ano4 UTSW 10 88,828,891 (GRCm39) missense probably damaging 1.00
R0126:Ano4 UTSW 10 88,788,154 (GRCm39) missense possibly damaging 0.73
R0380:Ano4 UTSW 10 88,814,675 (GRCm39) missense possibly damaging 0.82
R0508:Ano4 UTSW 10 88,816,839 (GRCm39) missense probably damaging 1.00
R0540:Ano4 UTSW 10 88,859,806 (GRCm39) missense probably benign 0.00
R1802:Ano4 UTSW 10 88,816,878 (GRCm39) missense probably damaging 1.00
R1864:Ano4 UTSW 10 88,807,253 (GRCm39) missense probably damaging 1.00
R1871:Ano4 UTSW 10 88,828,889 (GRCm39) missense probably damaging 1.00
R2829:Ano4 UTSW 10 88,948,801 (GRCm39) missense possibly damaging 0.58
R2880:Ano4 UTSW 10 88,948,661 (GRCm39) missense probably damaging 1.00
R3846:Ano4 UTSW 10 88,831,114 (GRCm39) missense possibly damaging 0.93
R3904:Ano4 UTSW 10 88,860,867 (GRCm39) missense probably damaging 1.00
R4429:Ano4 UTSW 10 88,828,804 (GRCm39) missense probably damaging 0.99
R4547:Ano4 UTSW 10 88,817,032 (GRCm39) missense probably null
R4638:Ano4 UTSW 10 88,790,559 (GRCm39) missense probably damaging 1.00
R4640:Ano4 UTSW 10 88,790,559 (GRCm39) missense probably damaging 1.00
R4876:Ano4 UTSW 10 88,948,697 (GRCm39) missense probably damaging 1.00
R5007:Ano4 UTSW 10 88,948,807 (GRCm39) missense probably benign 0.26
R5104:Ano4 UTSW 10 88,903,974 (GRCm39) missense possibly damaging 0.61
R5151:Ano4 UTSW 10 88,948,775 (GRCm39) missense probably damaging 1.00
R5215:Ano4 UTSW 10 89,153,165 (GRCm39) missense possibly damaging 0.86
R5396:Ano4 UTSW 10 88,948,702 (GRCm39) missense probably damaging 1.00
R5826:Ano4 UTSW 10 88,788,189 (GRCm39) missense probably damaging 1.00
R6018:Ano4 UTSW 10 88,865,128 (GRCm39) missense probably benign 0.01
R6036:Ano4 UTSW 10 88,818,127 (GRCm39) missense possibly damaging 0.95
R6036:Ano4 UTSW 10 88,818,127 (GRCm39) missense possibly damaging 0.95
R6037:Ano4 UTSW 10 89,153,108 (GRCm39) missense possibly damaging 0.93
R6037:Ano4 UTSW 10 89,153,108 (GRCm39) missense possibly damaging 0.93
R6222:Ano4 UTSW 10 88,863,084 (GRCm39) missense probably damaging 1.00
R6387:Ano4 UTSW 10 88,807,267 (GRCm39) nonsense probably null
R6521:Ano4 UTSW 10 88,819,640 (GRCm39) missense probably damaging 0.98
R6739:Ano4 UTSW 10 88,863,114 (GRCm39) missense probably damaging 1.00
R6786:Ano4 UTSW 10 88,828,732 (GRCm39) splice site probably null
R7035:Ano4 UTSW 10 88,790,573 (GRCm39) missense probably damaging 1.00
R7523:Ano4 UTSW 10 88,807,257 (GRCm39) nonsense probably null
R7715:Ano4 UTSW 10 88,831,173 (GRCm39) missense probably damaging 0.99
R7930:Ano4 UTSW 10 89,163,138 (GRCm39) missense possibly damaging 0.53
R7955:Ano4 UTSW 10 88,831,088 (GRCm39) missense probably null 0.45
R7975:Ano4 UTSW 10 88,952,847 (GRCm39) missense possibly damaging 0.46
R8005:Ano4 UTSW 10 88,807,183 (GRCm39) missense probably benign 0.04
R8024:Ano4 UTSW 10 88,807,194 (GRCm39) missense probably damaging 1.00
R8168:Ano4 UTSW 10 88,816,857 (GRCm39) missense probably damaging 0.96
R8190:Ano4 UTSW 10 88,808,607 (GRCm39) missense probably benign 0.13
R8206:Ano4 UTSW 10 88,860,958 (GRCm39) missense probably damaging 1.00
R8252:Ano4 UTSW 10 88,816,881 (GRCm39) missense probably damaging 1.00
R8285:Ano4 UTSW 10 88,904,079 (GRCm39) missense probably damaging 0.98
R8917:Ano4 UTSW 10 88,788,160 (GRCm39) missense probably damaging 1.00
R9302:Ano4 UTSW 10 88,831,220 (GRCm39) missense probably benign 0.00
R9688:Ano4 UTSW 10 89,180,506 (GRCm39) start codon destroyed probably null 0.02
T0970:Ano4 UTSW 10 88,817,052 (GRCm39) nonsense probably null
Z1176:Ano4 UTSW 10 88,948,807 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- TGTTCCAGGAGAGAATGTCATTAGG -3'
(R):5'- AATATGTGCATACTTTATGGGGCTG -3'

Sequencing Primer
(F):5'- CCAGGAGAGAATGTCATTAGGTTTAC -3'
(R):5'- CATACTTTATGGGGCTGGTGTATTGC -3'
Posted On 2015-04-29