Incidental Mutation 'IGL02939:Zfp385b'
ID365952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp385b
Ensembl Gene ENSMUSG00000027016
Gene Namezinc finger protein 385B
SynonymsC130013B13Rik, Zfp533, B830010L13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02939
Quality Score
Status
Chromosome2
Chromosomal Location77410634-77819639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77412059 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 439 (S439P)
Ref Sequence ENSEMBL: ENSMUSP00000107462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090766] [ENSMUST00000111830] [ENSMUST00000111831] [ENSMUST00000171063]
Predicted Effect probably benign
Transcript: ENSMUST00000090766
AA Change: S439P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000088271
Gene: ENSMUSG00000027016
AA Change: S439P

DomainStartEndE-ValueType
ZnF_U1 30 65 3.07e-4 SMART
ZnF_C2H2 34 58 3.21e1 SMART
low complexity region 66 81 N/A INTRINSIC
low complexity region 83 92 N/A INTRINSIC
ZnF_U1 166 200 9.3e-4 SMART
ZnF_C2H2 169 193 5.07e0 SMART
low complexity region 245 256 N/A INTRINSIC
ZnF_U1 294 328 2.29e-3 SMART
ZnF_C2H2 297 321 1.47e1 SMART
ZnF_U1 357 391 8.09e-4 SMART
ZnF_C2H2 360 384 6.57e-1 SMART
low complexity region 429 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111830
AA Change: S325P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107461
Gene: ENSMUSG00000027016
AA Change: S325P

DomainStartEndE-ValueType
ZnF_U1 52 86 9.3e-4 SMART
ZnF_C2H2 55 79 5.07e0 SMART
low complexity region 131 142 N/A INTRINSIC
ZnF_U1 180 214 2.29e-3 SMART
ZnF_C2H2 183 207 1.47e1 SMART
ZnF_U1 243 277 8.09e-4 SMART
ZnF_C2H2 246 270 6.57e-1 SMART
low complexity region 315 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111831
AA Change: S439P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107462
Gene: ENSMUSG00000027016
AA Change: S439P

DomainStartEndE-ValueType
ZnF_U1 30 65 3.07e-4 SMART
ZnF_C2H2 34 58 3.21e1 SMART
low complexity region 66 81 N/A INTRINSIC
low complexity region 83 92 N/A INTRINSIC
ZnF_U1 166 200 9.3e-4 SMART
ZnF_C2H2 169 193 5.07e0 SMART
low complexity region 245 256 N/A INTRINSIC
ZnF_U1 294 328 2.29e-3 SMART
ZnF_C2H2 297 321 1.47e1 SMART
ZnF_U1 357 391 8.09e-4 SMART
ZnF_C2H2 360 384 6.57e-1 SMART
low complexity region 429 452 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145251
Predicted Effect probably benign
Transcript: ENSMUST00000171063
AA Change: S351P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126801
Gene: ENSMUSG00000027016
AA Change: S351P

DomainStartEndE-ValueType
ZnF_U1 78 112 9.3e-4 SMART
ZnF_C2H2 81 105 5.07e0 SMART
low complexity region 157 168 N/A INTRINSIC
ZnF_U1 206 240 2.29e-3 SMART
ZnF_C2H2 209 233 1.47e1 SMART
ZnF_U1 269 303 8.09e-4 SMART
ZnF_C2H2 272 296 6.57e-1 SMART
low complexity region 341 364 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik T C 5: 9,461,478 Y947H probably damaging Het
Atp6ap1 A G X: 74,297,318 D47G probably benign Het
Atr T C 9: 95,865,261 F199L probably benign Het
Bivm C A 1: 44,142,960 H443N probably benign Het
Btnl2 A T 17: 34,361,069 H192L probably benign Het
Ccdc178 A T 18: 22,120,718 C155S probably benign Het
Celsr1 C A 15: 85,901,472 V2934L probably benign Het
Celsr3 T C 9: 108,849,453 S3294P probably damaging Het
Ddx10 T A 9: 53,204,279 E585V possibly damaging Het
Eps15l1 A T 8: 72,384,762 probably benign Het
Erlin1 G T 19: 44,063,052 T70K probably damaging Het
Ext2 A T 2: 93,704,619 probably null Het
Fam124a G A 14: 62,555,919 probably null Het
Fam53a T C 5: 33,607,759 D201G probably damaging Het
Fgf14 C T 14: 124,132,479 G136D possibly damaging Het
Gdi2 A T 13: 3,564,623 T323S probably benign Het
Gemin5 A T 11: 58,156,730 N339K probably damaging Het
Golga4 A G 9: 118,535,454 E286G probably benign Het
Golga4 A C 9: 118,534,632 K233T probably damaging Het
Gosr1 A G 11: 76,750,906 probably benign Het
Haus8 A G 8: 71,255,717 probably benign Het
Itgb3bp T C 4: 99,802,136 T49A probably null Het
Ldlrad4 A G 18: 68,254,514 D299G probably damaging Het
Lpo A G 11: 87,815,178 M273T possibly damaging Het
Map3k4 T A 17: 12,272,149 S132C probably damaging Het
Mycbp2 T G 14: 103,177,279 T2566P probably benign Het
Nalcn T C 14: 123,298,872 E1255G probably null Het
Nop56 A T 2: 130,278,197 K157N probably damaging Het
Olfr802 A T 10: 129,681,988 Y250* probably null Het
Olfr979 C T 9: 40,000,898 E110K probably benign Het
Pcdh15 A G 10: 74,504,816 probably benign Het
Pi4ka T C 16: 17,354,210 H557R probably damaging Het
Plekha4 C T 7: 45,532,363 Q64* probably null Het
Ppp2r3c G A 12: 55,298,407 probably benign Het
Rgmb C T 17: 15,807,493 M321I probably benign Het
Rnf31 T C 14: 55,595,674 S363P probably benign Het
Sap18b T A 8: 95,825,701 M113K probably benign Het
Scara3 T A 14: 65,931,656 M171L probably benign Het
Slc9a2 T G 1: 40,742,703 M364R probably damaging Het
Sorcs1 C T 19: 50,677,930 W180* probably null Het
Stat6 T A 10: 127,646,940 M10K probably benign Het
Sun1 T C 5: 139,235,488 probably benign Het
Tead2 T C 7: 45,220,434 probably benign Het
Tjp1 T G 7: 65,314,890 E844D probably damaging Het
Tmtc2 A G 10: 105,370,550 S295P probably damaging Het
Ttn G A 2: 76,782,412 R17108C probably damaging Het
Ubr1 T C 2: 120,881,183 probably null Het
Vmn2r108 T A 17: 20,471,283 H326L probably benign Het
Xdh A G 17: 73,943,845 probably null Het
Zfp597 G A 16: 3,865,941 S317L probably benign Het
Zfp638 A G 6: 83,969,232 D1081G probably damaging Het
Zfp93 C T 7: 24,275,084 H165Y possibly damaging Het
Other mutations in Zfp385b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Zfp385b APN 2 77476778 missense probably damaging 1.00
IGL01684:Zfp385b APN 2 77719675 missense possibly damaging 0.86
IGL02354:Zfp385b APN 2 77450303 missense probably damaging 1.00
IGL02361:Zfp385b APN 2 77450303 missense probably damaging 1.00
R0008:Zfp385b UTSW 2 77415947 missense probably benign 0.27
R0008:Zfp385b UTSW 2 77415947 missense probably benign 0.27
R0243:Zfp385b UTSW 2 77415728 critical splice donor site probably null
R0403:Zfp385b UTSW 2 77476845 missense probably damaging 0.97
R1566:Zfp385b UTSW 2 77415913 missense probably benign 0.05
R1799:Zfp385b UTSW 2 77415972 missense probably benign 0.13
R3618:Zfp385b UTSW 2 77415889 missense probably benign
R3619:Zfp385b UTSW 2 77415889 missense probably benign
R4007:Zfp385b UTSW 2 77719492 missense probably benign 0.00
R6290:Zfp385b UTSW 2 77450268 missense possibly damaging 0.90
R6298:Zfp385b UTSW 2 77413979 missense possibly damaging 0.83
R6383:Zfp385b UTSW 2 77415841 missense probably benign 0.01
R6482:Zfp385b UTSW 2 77719648 small insertion probably benign
R6484:Zfp385b UTSW 2 77719648 small insertion probably benign
R6856:Zfp385b UTSW 2 77415794 missense probably damaging 1.00
R7276:Zfp385b UTSW 2 77450280 missense probably damaging 1.00
Posted On2015-12-18