Incidental Mutation 'IGL02604:Zfp69'
ID300175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp69
Ensembl Gene ENSMUSG00000064141
Gene Namezinc finger protein 69
SynonymsZfp63, LOC381549, KRAB2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02604
Quality Score
Status
Chromosome4
Chromosomal Location120930137-120951699 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120931463 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 218 (D218E)
Ref Sequence ENSEMBL: ENSMUSP00000101888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106280] [ENSMUST00000106281] [ENSMUST00000130702]
Predicted Effect probably benign
Transcript: ENSMUST00000106280
AA Change: D218E

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101887
Gene: ENSMUSG00000064141
AA Change: D218E

DomainStartEndE-ValueType
internal_repeat_1 32 80 1.53e-8 PROSPERO
KRAB 131 192 1.15e-32 SMART
ZnF_C2H2 324 346 1.13e-4 SMART
ZnF_C2H2 352 374 2.79e-4 SMART
ZnF_C2H2 380 402 1.04e-3 SMART
ZnF_C2H2 408 430 1.12e-3 SMART
ZnF_C2H2 436 458 1.82e-3 SMART
ZnF_C2H2 464 486 3.29e-1 SMART
ZnF_C2H2 492 514 1.38e-3 SMART
ZnF_C2H2 520 542 3.29e-1 SMART
ZnF_C2H2 548 570 2.12e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106281
AA Change: D218E

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101888
Gene: ENSMUSG00000064141
AA Change: D218E

DomainStartEndE-ValueType
internal_repeat_1 32 80 1.53e-8 PROSPERO
KRAB 131 192 1.15e-32 SMART
ZnF_C2H2 324 346 1.13e-4 SMART
ZnF_C2H2 352 374 2.79e-4 SMART
ZnF_C2H2 380 402 1.04e-3 SMART
ZnF_C2H2 408 430 1.12e-3 SMART
ZnF_C2H2 436 458 1.82e-3 SMART
ZnF_C2H2 464 486 3.29e-1 SMART
ZnF_C2H2 492 514 1.38e-3 SMART
ZnF_C2H2 520 542 3.29e-1 SMART
ZnF_C2H2 548 570 2.12e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130702
AA Change: D58E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133312
Gene: ENSMUSG00000064141
AA Change: D58E

DomainStartEndE-ValueType
KRAB 1 32 2.6e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132839
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,567,948 V61A probably benign Het
Arfgef1 G A 1: 10,181,050 probably benign Het
Arhgef4 T A 1: 34,811,723 L594* probably null Het
Cacna2d3 T C 14: 29,293,109 T375A possibly damaging Het
Calb2 A C 8: 110,148,528 Y155D probably damaging Het
Camkmt A G 17: 85,096,625 T92A possibly damaging Het
Chsy3 A G 18: 59,409,115 S442G probably benign Het
Cyp4f13 T C 17: 32,932,421 I173V probably benign Het
Dapk1 A G 13: 60,748,320 T741A probably benign Het
Dennd3 T C 15: 73,556,403 I866T probably damaging Het
Dhrs2 A T 14: 55,237,321 I138F possibly damaging Het
Dscaml1 C T 9: 45,744,328 probably benign Het
Fsbp A G 4: 11,584,147 E282G probably damaging Het
Hpgds A T 6: 65,123,610 L128Q probably damaging Het
Hspa9 A G 18: 34,954,213 V13A unknown Het
Itgb3 A G 11: 104,662,443 E709G probably damaging Het
Jarid2 T C 13: 44,874,401 S148P probably damaging Het
Kcna6 C T 6: 126,739,204 G241R probably benign Het
Kdm5a T A 6: 120,431,980 N1541K probably benign Het
Kel C A 6: 41,687,582 E640D probably damaging Het
Lcp1 A T 14: 75,224,126 I520F probably benign Het
Lgr4 A G 2: 110,011,313 I524V probably damaging Het
Maats1 A G 16: 38,321,559 probably benign Het
Mup20 A C 4: 62,051,904 Y139D probably damaging Het
Notch4 T C 17: 34,565,388 probably null Het
Obox7 A G 7: 14,665,368 E173G probably benign Het
Olfr1502 T A 19: 13,861,806 N4K probably benign Het
Olfr153 A T 2: 87,532,605 T191S probably damaging Het
Olfr447 T A 6: 42,912,058 C178* probably null Het
Olfr517 T A 7: 108,868,650 Y168F probably benign Het
Olfr889 C T 9: 38,115,852 Q19* probably null Het
Patl2 T G 2: 122,125,333 T241P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plekhg6 T C 6: 125,377,379 probably benign Het
Pon1 C A 6: 5,168,375 G344V probably damaging Het
Ppp1r21 G T 17: 88,572,743 K529N probably benign Het
Prdm15 A G 16: 97,821,942 S203P probably benign Het
Psmc2 T A 5: 21,795,100 probably null Het
Ptn T C 6: 36,715,718 M166V unknown Het
Ptpn13 A G 5: 103,501,903 N391D probably benign Het
Rnf214 A G 9: 45,869,543 S383P probably damaging Het
Rufy4 T A 1: 74,134,189 L438H probably damaging Het
Scarf2 A G 16: 17,803,744 T353A probably damaging Het
Serpinb9e A C 13: 33,257,759 I225L probably benign Het
Slc25a40 T C 5: 8,453,219 V312A probably benign Het
Tmc3 A G 7: 83,622,619 Y993C possibly damaging Het
Trim56 A C 5: 137,113,076 C529G probably damaging Het
Trim8 T C 19: 46,515,478 S490P probably damaging Het
Trmt6 A T 2: 132,810,437 Y147* probably null Het
Vmn2r109 T A 17: 20,540,701 H798L probably damaging Het
Vps35 A G 8: 85,286,389 L153P probably damaging Het
Wdr82 T C 9: 106,183,681 I131T probably damaging Het
Other mutations in Zfp69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Zfp69 APN 4 120931500 missense probably damaging 1.00
IGL03406:Zfp69 APN 4 120931084 missense probably benign
R0505:Zfp69 UTSW 4 120931095 missense probably damaging 1.00
R0613:Zfp69 UTSW 4 120934347 missense probably benign
R0628:Zfp69 UTSW 4 120949425 nonsense probably null
R0838:Zfp69 UTSW 4 120931281 missense probably benign 0.09
R1669:Zfp69 UTSW 4 120947498 utr 5 prime probably benign
R2060:Zfp69 UTSW 4 120930832 missense probably damaging 0.98
R3740:Zfp69 UTSW 4 120930874 splice site probably null
R4242:Zfp69 UTSW 4 120934475 intron probably benign
R4770:Zfp69 UTSW 4 120934417 missense probably damaging 0.99
R4998:Zfp69 UTSW 4 120947325 missense possibly damaging 0.52
R5620:Zfp69 UTSW 4 120930522 missense probably damaging 1.00
R6312:Zfp69 UTSW 4 120949517 unclassified probably benign
R6534:Zfp69 UTSW 4 120931197 missense probably benign 0.05
R7056:Zfp69 UTSW 4 120931098 missense probably benign 0.01
R7061:Zfp69 UTSW 4 120931401 missense possibly damaging 0.69
R7663:Zfp69 UTSW 4 120935126 missense probably benign 0.17
R8169:Zfp69 UTSW 4 120930534 missense probably damaging 1.00
R8348:Zfp69 UTSW 4 120930637 missense probably damaging 1.00
R8389:Zfp69 UTSW 4 120949352 missense possibly damaging 0.93
RF053:Zfp69 UTSW 4 120947347 utr 5 prime probably benign
Posted On2015-04-16