Incidental Mutation 'R7113:Zfand6'
ID 551625
Institutional Source Beutler Lab
Gene Symbol Zfand6
Ensembl Gene ENSMUSG00000030629
Gene Name zinc finger, AN1-type domain 6
Synonyms Za20d3, 3110005P07Rik, Awp1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R7113 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 84613766-84689959 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 84615869 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 208 (I208S)
Ref Sequence ENSEMBL: ENSMUSP00000069228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069537] [ENSMUST00000178385] [ENSMUST00000207865] [ENSMUST00000208782] [ENSMUST00000209117] [ENSMUST00000209165]
AlphaFold Q9DCH6
Predicted Effect probably damaging
Transcript: ENSMUST00000069537
AA Change: I208S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069228
Gene: ENSMUSG00000030629
AA Change: I208S

DomainStartEndE-ValueType
ZnF_A20 11 35 1.91e-10 SMART
ZnF_AN1 164 201 1.46e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178385
AA Change: I208S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135968
Gene: ENSMUSG00000030629
AA Change: I208S

DomainStartEndE-ValueType
ZnF_A20 11 35 1.91e-10 SMART
ZnF_AN1 164 201 1.46e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207865
Predicted Effect probably benign
Transcript: ENSMUST00000208782
Predicted Effect probably damaging
Transcript: ENSMUST00000209117
AA Change: I208S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000209165
AA Change: I208S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (53/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,312,759 S226P probably benign Het
Adarb2 T C 13: 8,731,845 Y586H probably damaging Het
Ano7 A T 1: 93,385,620 E160V probably benign Het
Apob G C 12: 7,995,539 A895P probably damaging Het
Ccdc157 T C 11: 4,148,889 T206A possibly damaging Het
Ceacam18 A G 7: 43,641,976 N281D probably benign Het
Chil4 T G 3: 106,214,348 K62Q probably benign Het
Chil4 T C 3: 106,202,767 D337G probably damaging Het
Cic A T 7: 25,273,444 I867F probably benign Het
Cntln A G 4: 85,049,827 E761G probably damaging Het
Cyp2d26 T A 15: 82,790,202 Y493F probably benign Het
Dync2h1 A T 9: 7,075,788 F3026L probably benign Het
Ehd3 T A 17: 73,830,184 D449E probably benign Het
Gm5152 G A 5: 10,243,010 P189S Het
Gm884 A G 11: 103,618,799 I781T unknown Het
Gpt2 G A 8: 85,518,052 E325K probably benign Het
Herc2 T G 7: 56,203,849 D3696E probably damaging Het
Hivep3 T A 4: 120,098,369 I1294N probably damaging Het
Il19 T C 1: 130,934,995 I139V probably benign Het
Jmjd1c T A 10: 67,158,001 I87N probably damaging Het
Kcnma1 A G 14: 23,463,156 Y392H probably damaging Het
Kcnv2 T C 19: 27,324,048 L433P probably damaging Het
Kif9 A T 9: 110,506,664 N378Y probably damaging Het
Lonrf1 A T 8: 36,230,510 V440E probably benign Het
Manea A T 4: 26,336,718 L186Q probably damaging Het
Mas1 A G 17: 12,842,437 I33T probably benign Het
Med13l A G 5: 118,726,265 S389G probably benign Het
Nxph3 T C 11: 95,511,066 N174S possibly damaging Het
Olfr365 T A 2: 37,201,556 F105Y possibly damaging Het
Olfr965 G C 9: 39,719,677 C150S probably benign Het
Pcdha5 A G 18: 36,961,704 D422G probably benign Het
Pias4 A C 10: 81,154,453 V416G possibly damaging Het
Pik3cg T A 12: 32,205,667 Y107F probably damaging Het
Plcg1 T A 2: 160,748,283 W156R possibly damaging Het
Plcl2 A G 17: 50,606,464 D167G probably damaging Het
Podxl T A 6: 31,524,733 probably null Het
Ppp1r2 T C 16: 31,254,718 D197G probably benign Het
Ptprs C G 17: 56,451,697 V175L probably benign Het
Rad17 A T 13: 100,629,517 S368T probably benign Het
Rdh8 G T 9: 20,825,327 R230L probably benign Het
Rpl35 A C 2: 39,004,156 L58R probably damaging Het
Rtp3 A C 9: 110,986,699 C199W probably damaging Het
S100pbp G A 4: 129,182,103 T143I probably damaging Het
Scarf1 A G 11: 75,526,078 E782G probably damaging Het
Slc30a9 T C 5: 67,326,862 V114A probably benign Het
Stpg2 G A 3: 139,701,774 probably null Het
Tdpoz1 T C 3: 93,670,806 S224G possibly damaging Het
Triml2 T A 8: 43,183,333 Y52N probably benign Het
Trpm2 A T 10: 77,947,931 I236N probably damaging Het
Unc5c A G 3: 141,801,293 D602G probably benign Het
Upk1a A G 7: 30,609,811 S29P probably damaging Het
Vmn2r54 A G 7: 12,616,074 L527P probably damaging Het
Vmn2r72 A T 7: 85,749,803 probably null Het
Vstm2l G T 2: 157,914,729 probably benign Het
Vwf G T 6: 125,655,044 G1952V Het
Zfp236 A G 18: 82,620,337 I1386T possibly damaging Het
Other mutations in Zfand6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Zfand6 APN 7 84617903 missense probably damaging 0.99
IGL03162:Zfand6 APN 7 84633977 missense probably benign 0.01
R0780:Zfand6 UTSW 7 84615834 missense probably damaging 1.00
R1055:Zfand6 UTSW 7 84615973 splice site probably benign
R2427:Zfand6 UTSW 7 84634290 nonsense probably null
R3683:Zfand6 UTSW 7 84634362 missense probably damaging 1.00
R3685:Zfand6 UTSW 7 84634362 missense probably damaging 1.00
R4663:Zfand6 UTSW 7 84617885 missense probably benign 0.27
R4939:Zfand6 UTSW 7 84615822 makesense probably null
R6013:Zfand6 UTSW 7 84632692 missense probably benign 0.00
R6867:Zfand6 UTSW 7 84615914 missense probably damaging 1.00
R7692:Zfand6 UTSW 7 84633933 missense not run
R8140:Zfand6 UTSW 7 84632749 missense possibly damaging 0.71
R8755:Zfand6 UTSW 7 84632691 missense probably benign
R9185:Zfand6 UTSW 7 84634350 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATGATTCAAGGGTCTATGC -3'
(R):5'- TGAGAATGGAGCTCTTGGAACTAAG -3'

Sequencing Primer
(F):5'- TGCAAGATACGGTGCTCTAC -3'
(R):5'- GGAGCTCTTGGAACTAAGTATTCTTC -3'
Posted On 2019-05-15