Incidental Mutation 'IGL02227:Zfp366'
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ID285601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp366
Ensembl Gene ENSMUSG00000050919
Gene Namezinc finger protein 366
SynonymsDC-SCRIPT
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.353) question?
Stock #IGL02227
Quality Score
Status
Chromosome13
Chromosomal Location99184823-99250656 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 99234188 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 472 (R472L)
Ref Sequence ENSEMBL: ENSMUSP00000060040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056558]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056558
AA Change: R472L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060040
Gene: ENSMUSG00000050919
AA Change: R472L

DomainStartEndE-ValueType
low complexity region 159 175 N/A INTRINSIC
low complexity region 183 196 N/A INTRINSIC
ZnF_C2H2 250 272 1.18e-2 SMART
ZnF_C2H2 278 300 4.05e-1 SMART
ZnF_C2H2 306 328 1.79e-2 SMART
ZnF_C2H2 334 356 1.53e-1 SMART
ZnF_C2H2 362 384 1.89e-1 SMART
ZnF_C2H2 390 412 1.22e-4 SMART
ZnF_C2H2 418 440 1.36e-2 SMART
ZnF_C2H2 446 468 1.1e-2 SMART
ZnF_C2H2 474 496 8.34e-3 SMART
ZnF_C2H2 502 524 5.42e-2 SMART
ZnF_C2H2 530 553 2.4e-3 SMART
low complexity region 615 623 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit perimembranous and muscular ventricular septal defects (VSD), and overriding aorta. Short snout, micrognathia, micropthalmia, hypoplastic thymus, and hydronephrosis are also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,982,950 N152D possibly damaging Het
Acsl1 A G 8: 46,534,365 E662G probably benign Het
Acss3 A G 10: 107,045,335 S262P probably benign Het
Agap1 T C 1: 89,663,775 V263A probably damaging Het
Ap3b2 A G 7: 81,473,404 L454P probably damaging Het
Arrdc1 A T 2: 24,926,152 F280I possibly damaging Het
Atp8b1 G T 18: 64,562,190 H485N probably benign Het
Atrip A G 9: 109,061,664 S91P possibly damaging Het
Bcorl1 T C X: 48,369,360 V590A probably benign Het
Brf1 C A 12: 112,961,774 R590S probably damaging Het
Ccdc18 A T 5: 108,148,922 D197V possibly damaging Het
Ccr6 T C 17: 8,256,452 V163A probably damaging Het
Cct6b T C 11: 82,741,391 E257G probably damaging Het
Cdc42bpa A G 1: 180,094,424 D564G possibly damaging Het
Cdh2 C T 18: 16,629,586 V434I probably benign Het
Cltc C T 11: 86,697,340 V1610M possibly damaging Het
Cnot4 A G 6: 35,051,263 F473L probably benign Het
Dock3 T C 9: 107,062,055 K165E probably damaging Het
Duox2 A T 2: 122,285,153 probably benign Het
Epha7 A G 4: 28,821,587 S251G possibly damaging Het
Epn1 T A 7: 5,095,036 V282E probably benign Het
Fat1 T C 8: 45,023,659 L1914P probably damaging Het
Fbln2 T C 6: 91,256,367 I611T possibly damaging Het
Fgd6 G T 10: 94,134,084 M1198I probably damaging Het
Frmpd4 T A X: 167,492,935 I379F probably damaging Het
Gm6614 A T 6: 141,993,675 C197* probably null Het
Grk4 T A 5: 34,694,782 D123E probably benign Het
Hc T G 2: 35,009,911 probably benign Het
Hephl1 T C 9: 15,069,793 Y781C probably damaging Het
Hfe T C 13: 23,706,943 E71G probably benign Het
Hk1 A G 10: 62,281,140 probably benign Het
Ifnk G A 4: 35,152,642 probably benign Het
Kcnv1 C A 15: 45,114,274 G123C probably damaging Het
Kdelc2 T C 9: 53,388,479 L96S probably damaging Het
Klhl38 A T 15: 58,323,237 I32N possibly damaging Het
Lpl T C 8: 68,895,800 V227A probably damaging Het
Lurap1l A T 4: 80,953,857 S196C probably damaging Het
Mta1 T C 12: 113,120,908 L91P possibly damaging Het
Nelfe C A 17: 34,854,354 D288E probably benign Het
Olfr491 T A 7: 108,317,201 C102* probably null Het
Otof T C 5: 30,370,784 E1905G probably damaging Het
Pck2 T C 14: 55,543,866 I148T probably benign Het
Plcl2 G T 17: 50,606,397 V145F probably damaging Het
Plec A G 15: 76,172,274 S4510P probably damaging Het
Plxna2 A G 1: 194,752,089 E641G probably damaging Het
Ppp1r12a C T 10: 108,269,324 T434M probably damaging Het
Ppp6r3 A T 19: 3,518,245 N184K possibly damaging Het
Prkar1a G A 11: 109,660,175 probably benign Het
Psmb1 A T 17: 15,490,284 M1K probably null Het
Pwwp2a T C 11: 43,705,621 S538P possibly damaging Het
Rbm25 C T 12: 83,672,753 R516W probably damaging Het
Rnf103 A G 6: 71,510,188 D601G probably benign Het
Senp3 A G 11: 69,674,530 V467A possibly damaging Het
Slc8a3 T G 12: 81,315,683 T121P probably damaging Het
Srrt G A 5: 137,296,274 T790M probably damaging Het
Ssc5d T C 7: 4,933,454 probably null Het
Tas2r129 G A 6: 132,951,394 W98* probably null Het
Thoc5 A C 11: 4,926,217 M609L probably benign Het
Tnip1 G A 11: 54,936,471 T155M possibly damaging Het
Ttn A G 2: 76,788,328 V14458A probably benign Het
Unc5cl A G 17: 48,459,781 E61G probably benign Het
Usp32 T C 11: 84,986,481 K151E probably damaging Het
Vmn2r121 T C X: 124,132,681 M260V probably benign Het
Vwa7 G T 17: 35,020,084 R345L probably damaging Het
Zfp811 A T 17: 32,798,642 Y141* probably null Het
Zpbp C T 11: 11,415,248 E200K probably benign Het
Other mutations in Zfp366
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Zfp366 APN 13 99246572 utr 3 prime probably benign
IGL01626:Zfp366 APN 13 99228412 missense probably damaging 0.99
IGL03074:Zfp366 APN 13 99246405 missense probably benign
R0126:Zfp366 UTSW 13 99228621 missense probably benign 0.14
R0145:Zfp366 UTSW 13 99229540 missense probably damaging 1.00
R0234:Zfp366 UTSW 13 99234260 missense probably damaging 1.00
R0234:Zfp366 UTSW 13 99234260 missense probably damaging 1.00
R0376:Zfp366 UTSW 13 99234251 missense probably benign 0.00
R0537:Zfp366 UTSW 13 99229278 missense probably damaging 1.00
R0637:Zfp366 UTSW 13 99228966 missense probably damaging 0.99
R0838:Zfp366 UTSW 13 99228610 missense possibly damaging 0.73
R1386:Zfp366 UTSW 13 99246555 missense probably damaging 0.98
R1422:Zfp366 UTSW 13 99229296 missense probably damaging 1.00
R1669:Zfp366 UTSW 13 99229561 missense probably damaging 0.99
R1839:Zfp366 UTSW 13 99228492 missense probably damaging 0.98
R3751:Zfp366 UTSW 13 99228844 missense probably damaging 1.00
R4782:Zfp366 UTSW 13 99246483 missense probably damaging 1.00
R4908:Zfp366 UTSW 13 99234101 missense possibly damaging 0.68
R4992:Zfp366 UTSW 13 99229495 missense possibly damaging 0.62
R5040:Zfp366 UTSW 13 99228367 missense probably damaging 1.00
R5086:Zfp366 UTSW 13 99228943 missense probably benign 0.00
R5186:Zfp366 UTSW 13 99246168 missense probably benign 0.00
R5249:Zfp366 UTSW 13 99229609 missense probably damaging 1.00
R5450:Zfp366 UTSW 13 99229585 missense probably damaging 1.00
R6838:Zfp366 UTSW 13 99228507 missense possibly damaging 0.93
R6838:Zfp366 UTSW 13 99246177 missense possibly damaging 0.83
R7250:Zfp366 UTSW 13 99229568 missense probably damaging 1.00
R7378:Zfp366 UTSW 13 99229515 missense probably damaging 1.00
R7571:Zfp366 UTSW 13 99246387 missense probably benign 0.03
R7624:Zfp366 UTSW 13 99246296 missense probably benign
R7653:Zfp366 UTSW 13 99229201 missense probably damaging 1.00
R8367:Zfp366 UTSW 13 99244043 missense possibly damaging 0.95
Z1176:Zfp366 UTSW 13 99246350 missense probably benign
Posted On2015-04-16