Incidental Mutation 'IGL02001:Zfand4'
ID183056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfand4
Ensembl Gene ENSMUSG00000042213
Gene Namezinc finger, AN1-type domain 4
SynonymsAnubl1, 2810002D23Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.267) question?
Stock #IGL02001
Quality Score
Status
Chromosome6
Chromosomal Location116264222-116330302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116273652 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 14 (H14Q)
Ref Sequence ENSEMBL: ENSMUSP00000152710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036503] [ENSMUST00000112900] [ENSMUST00000220845] [ENSMUST00000222494] [ENSMUST00000222819] [ENSMUST00000223495]
Predicted Effect probably benign
Transcript: ENSMUST00000036503
AA Change: H14Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: H14Q

DomainStartEndE-ValueType
low complexity region 118 151 N/A INTRINSIC
low complexity region 458 472 N/A INTRINSIC
ZnF_AN1 554 592 4.18e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112900
AA Change: H14Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: H14Q

DomainStartEndE-ValueType
UBQ 54 125 4.11e-15 SMART
low complexity region 262 295 N/A INTRINSIC
low complexity region 602 616 N/A INTRINSIC
ZnF_AN1 698 736 4.18e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153244
AA Change: Y50N
Predicted Effect probably benign
Transcript: ENSMUST00000220845
AA Change: H14Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221239
Predicted Effect probably benign
Transcript: ENSMUST00000222494
AA Change: H14Q

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000222819
AA Change: H14Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223495
AA Change: H14Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,067,277 M268K probably benign Het
A530064D06Rik T C 17: 48,166,674 N25S possibly damaging Het
Als2 A T 1: 59,180,188 probably benign Het
Asah2 T A 19: 32,043,539 K255* probably null Het
Bclaf1 A G 10: 20,323,016 probably benign Het
Bpifb2 T C 2: 153,891,275 probably benign Het
Cacna2d2 G A 9: 107,522,116 V669I probably benign Het
Cep89 T A 7: 35,403,007 probably benign Het
Chl1 T G 6: 103,642,056 L29R possibly damaging Het
Defb2 T C 8: 21,843,337 Y43H probably damaging Het
Disc1 A G 8: 125,251,042 Y799C probably damaging Het
Egf G T 3: 129,716,768 A34E probably damaging Het
Fat2 A T 11: 55,312,245 M1K probably null Het
Gprin1 T C 13: 54,739,192 E423G probably damaging Het
Kcnh6 T C 11: 106,027,549 probably benign Het
Kcnt1 A G 2: 25,908,152 E925G probably damaging Het
Kctd16 A T 18: 40,258,680 K107I possibly damaging Het
Lrig1 T C 6: 94,607,324 K913R probably benign Het
March7 A G 2: 60,234,891 T504A possibly damaging Het
Mrpl11 C T 19: 4,963,652 R154* probably null Het
Nlrp4a T C 7: 26,449,969 F334L probably benign Het
Olfr30 C T 11: 58,455,509 V147M probably benign Het
Olfr545 T A 7: 102,494,539 T79S probably benign Het
Parp6 A G 9: 59,649,961 T610A possibly damaging Het
Pcdhb15 T G 18: 37,474,038 L108V probably benign Het
Pomgnt1 G T 4: 116,152,908 E156* probably null Het
Psma2 T G 13: 14,623,607 F105V possibly damaging Het
Rapgef4 A G 2: 72,225,052 probably benign Het
Sclt1 A T 3: 41,681,721 S282T possibly damaging Het
Serpina3f A G 12: 104,219,466 Y310C probably damaging Het
Sh3pxd2a T C 19: 47,273,447 K331R probably damaging Het
Tectb T C 19: 55,189,595 F183L possibly damaging Het
Tgfbr1 A G 4: 47,403,388 H327R probably damaging Het
Try10 T A 6: 41,356,589 D89E probably benign Het
Ttn G A 2: 76,756,784 S21623L probably damaging Het
Ttn A G 2: 76,781,938 L15489P probably damaging Het
Vdac3-ps1 A G 13: 18,031,388 noncoding transcript Het
Vmn2r69 T A 7: 85,407,226 Q568L probably benign Het
Wdr36 T A 18: 32,852,888 D548E probably damaging Het
Other mutations in Zfand4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01415:Zfand4 APN 6 116314869 missense probably benign 0.14
IGL02047:Zfand4 APN 6 116314928 missense probably damaging 1.00
IGL02887:Zfand4 APN 6 116273656 missense possibly damaging 0.66
IGL02943:Zfand4 APN 6 116273876 splice site probably benign
IGL03058:Zfand4 APN 6 116288077 missense probably benign 0.03
IGL03130:Zfand4 APN 6 116273659 missense probably damaging 0.99
IGL03253:Zfand4 APN 6 116284809 missense probably damaging 1.00
R0015:Zfand4 UTSW 6 116328297 missense probably damaging 1.00
R0133:Zfand4 UTSW 6 116314739 missense probably benign 0.02
R0446:Zfand4 UTSW 6 116288054 missense probably benign 0.29
R0508:Zfand4 UTSW 6 116285867 missense probably damaging 1.00
R1385:Zfand4 UTSW 6 116273638 missense probably damaging 1.00
R1577:Zfand4 UTSW 6 116329412 nonsense probably null
R2179:Zfand4 UTSW 6 116314781 missense possibly damaging 0.92
R3862:Zfand4 UTSW 6 116293815 intron probably benign
R4607:Zfand4 UTSW 6 116328234 nonsense probably null
R4608:Zfand4 UTSW 6 116328234 nonsense probably null
R4720:Zfand4 UTSW 6 116288161 critical splice donor site probably null
R4724:Zfand4 UTSW 6 116273819 missense probably damaging 1.00
R4771:Zfand4 UTSW 6 116314350 missense probably damaging 1.00
R5541:Zfand4 UTSW 6 116314295 missense possibly damaging 0.50
R5721:Zfand4 UTSW 6 116287995 missense probably damaging 1.00
R5901:Zfand4 UTSW 6 116288123 missense probably damaging 0.99
R6253:Zfand4 UTSW 6 116273614 missense probably damaging 0.97
R6798:Zfand4 UTSW 6 116328253 missense probably benign 0.01
R7030:Zfand4 UTSW 6 116305657 missense probably benign 0.01
R7081:Zfand4 UTSW 6 116315620 missense not run
Posted On2014-05-07