Incidental Mutation 'IGL00330:Zfp385b'
ID 7143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp385b
Ensembl Gene ENSMUSG00000027016
Gene Name zinc finger protein 385B
Synonyms C130013B13Rik, B830010L13Rik, Zfp533
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00330
Quality Score
Status
Chromosome 2
Chromosomal Location 77240966-77648050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77307122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 167 (Q167R)
Ref Sequence ENSEMBL: ENSMUSP00000107462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090766] [ENSMUST00000111830] [ENSMUST00000111831] [ENSMUST00000171063]
AlphaFold Q8BXJ8
Predicted Effect probably damaging
Transcript: ENSMUST00000090766
AA Change: Q167R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088271
Gene: ENSMUSG00000027016
AA Change: Q167R

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 damaging
Transcript: ENSMUST00000111830
AA Change: Q53R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107461
Gene: ENSMUSG00000027016
AA Change: Q53R

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 damaging
Transcript: ENSMUST00000111831
AA Change: Q167R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107462
Gene: ENSMUSG00000027016
AA Change: Q167R

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: ENSMUST00000126572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135756
Predicted Effect probably damaging
Transcript: ENSMUST00000171063
AA Change: Q79R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126801
Gene: ENSMUSG00000027016
AA Change: Q79R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146495
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T G 1: 192,857,087 (GRCm39) D146E probably benign Het
Alpi A T 1: 87,027,442 (GRCm39) L308Q probably damaging Het
Bhmt2 A T 13: 93,803,279 (GRCm39) probably benign Het
Bsn T C 9: 107,992,539 (GRCm39) E1071G probably damaging Het
Car3 A T 3: 14,933,439 (GRCm39) N128Y probably benign Het
Cdkl2 C T 5: 92,165,236 (GRCm39) probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cul9 T C 17: 46,821,767 (GRCm39) probably benign Het
Gpr149 T G 3: 62,438,094 (GRCm39) I688L probably damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Kif19a G A 11: 114,670,411 (GRCm39) G107D probably damaging Het
Loxhd1 A C 18: 77,483,146 (GRCm39) R1242S probably damaging Het
Ms4a6c T C 19: 11,455,676 (GRCm39) Y162H probably benign Het
Msrb2 G T 2: 19,376,510 (GRCm39) R6L unknown Het
Myh2 A G 11: 67,084,266 (GRCm39) N1630D probably benign Het
Myrf A G 19: 10,201,877 (GRCm39) V200A probably benign Het
Ncor2 A G 5: 125,119,807 (GRCm39) probably null Het
Nrg1 T A 8: 32,308,117 (GRCm39) Q621L probably damaging Het
Or11h6 G A 14: 50,880,625 (GRCm39) A296T probably benign Het
Or5bw2 A T 7: 6,573,667 (GRCm39) I226F possibly damaging Het
Pfkp A G 13: 6,669,586 (GRCm39) F211S probably damaging Het
Pramex1 T C X: 134,515,258 (GRCm39) N273S probably benign Het
Prss1l T C 6: 41,371,707 (GRCm39) L51P probably damaging Het
Pwwp3b A G X: 138,136,443 (GRCm39) D327G probably damaging Het
Rnh1 G A 7: 140,746,644 (GRCm39) A49V possibly damaging Het
Serhl C T 15: 82,988,574 (GRCm39) S167F probably benign Het
Skint1 T C 4: 111,878,777 (GRCm39) probably null Het
Taar7b A C 10: 23,876,740 (GRCm39) I302L probably benign Het
Tasor2 A G 13: 3,624,832 (GRCm39) F1706S probably benign Het
Zfp106 G A 2: 120,369,978 (GRCm39) P15S probably benign Het
Zfp800 T A 6: 28,243,037 (GRCm39) T643S probably benign Het
Other mutations in Zfp385b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Zfp385b APN 2 77,550,019 (GRCm39) missense possibly damaging 0.86
IGL02354:Zfp385b APN 2 77,280,647 (GRCm39) missense probably damaging 1.00
IGL02361:Zfp385b APN 2 77,280,647 (GRCm39) missense probably damaging 1.00
IGL02939:Zfp385b APN 2 77,242,403 (GRCm39) missense probably benign 0.00
R0008:Zfp385b UTSW 2 77,246,291 (GRCm39) missense probably benign 0.27
R0008:Zfp385b UTSW 2 77,246,291 (GRCm39) missense probably benign 0.27
R0243:Zfp385b UTSW 2 77,246,072 (GRCm39) critical splice donor site probably null
R0403:Zfp385b UTSW 2 77,307,189 (GRCm39) missense probably damaging 0.97
R1566:Zfp385b UTSW 2 77,246,257 (GRCm39) missense probably benign 0.05
R1799:Zfp385b UTSW 2 77,246,316 (GRCm39) missense probably benign 0.13
R3618:Zfp385b UTSW 2 77,246,233 (GRCm39) missense probably benign
R3619:Zfp385b UTSW 2 77,246,233 (GRCm39) missense probably benign
R4007:Zfp385b UTSW 2 77,549,836 (GRCm39) missense probably benign 0.00
R6290:Zfp385b UTSW 2 77,280,612 (GRCm39) missense possibly damaging 0.90
R6298:Zfp385b UTSW 2 77,244,323 (GRCm39) missense possibly damaging 0.83
R6383:Zfp385b UTSW 2 77,246,185 (GRCm39) missense probably benign 0.01
R6482:Zfp385b UTSW 2 77,549,992 (GRCm39) small insertion probably benign
R6484:Zfp385b UTSW 2 77,549,992 (GRCm39) small insertion probably benign
R6856:Zfp385b UTSW 2 77,246,138 (GRCm39) missense probably damaging 1.00
R7276:Zfp385b UTSW 2 77,280,624 (GRCm39) missense probably damaging 1.00
R8692:Zfp385b UTSW 2 77,549,971 (GRCm39) missense probably damaging 1.00
R8982:Zfp385b UTSW 2 77,242,300 (GRCm39) missense probably damaging 0.96
R9299:Zfp385b UTSW 2 77,246,115 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20