Incidental Mutation 'IGL02047:Zfand4'
ID184975
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? Probably non essential (E-score: 0.165) question?
Stock #IGL02047
Quality Score
Status
Chromosome6
Chromosomal Location116264222-116330302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 116314928 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 627 (G627R)
Ref Sequence ENSEMBL: ENSMUSP00000108521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036503] [ENSMUST00000112900] [ENSMUST00000222494] [ENSMUST00000222819] [ENSMUST00000223495]
Predicted Effect probably damaging
Transcript: ENSMUST00000036503
AA Change: G608R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: G608R

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 damaging
Transcript: ENSMUST00000069169
AA Change: G381R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068223
Gene: ENSMUSG00000042213
AA Change: G381R

DomainStartEndE-ValueType
low complexity region 16 49 N/A INTRINSIC
low complexity region 356 370 N/A INTRINSIC
ZnF_AN1 452 490 4.18e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112900
AA Change: G627R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: G627R

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: ENSMUST00000221239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222144
Predicted Effect probably benign
Transcript: ENSMUST00000222494
Predicted Effect probably benign
Transcript: ENSMUST00000222819
Predicted Effect probably benign
Transcript: ENSMUST00000223495
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik C T 17: 33,067,301 V176M probably damaging Het
A730049H05Rik G T 6: 92,831,928 probably benign Het
Ank3 A G 10: 69,892,494 N681S possibly damaging Het
Arpp19 T G 9: 75,056,776 S137A probably damaging Het
Bmp2 T C 2: 133,560,976 L149P probably damaging Het
Bpifb1 T C 2: 154,202,616 M1T probably null Het
Btbd7 T C 12: 102,793,779 S637G probably benign Het
Cyp51 T A 5: 4,099,244 H211L possibly damaging Het
Cyth1 C A 11: 118,169,132 Q333H probably damaging Het
Dennd5a G A 7: 109,934,784 T67M possibly damaging Het
Dse A T 10: 34,162,845 Y51* probably null Het
Dynlt3 A T X: 9,656,426 Y76* probably null Het
Fabp12 T C 3: 10,247,718 probably benign Het
Galr1 A T 18: 82,405,993 L53Q probably damaging Het
Igkv4-70 A T 6: 69,267,927 D103E probably damaging Het
Il2 T C 3: 37,125,851 N19S probably benign Het
Jhy T C 9: 40,917,180 I477V probably benign Het
Kcnk4 A G 19: 6,926,258 S308P probably benign Het
Lipo3 A T 19: 33,557,162 I299K probably benign Het
Mark3 T A 12: 111,618,363 I131N probably damaging Het
Msr1 A G 8: 39,623,960 V137A probably benign Het
Nf1 T A 11: 79,425,535 V482E probably benign Het
Pcsk1 T C 13: 75,097,989 V162A probably benign Het
Plekhb1 A G 7: 100,655,299 V47A probably damaging Het
R3hcc1l G A 19: 42,563,819 M418I probably benign Het
Slc24a4 T C 12: 102,254,623 F438L probably damaging Het
Slc38a5 G T X: 8,273,640 V127L possibly damaging Het
Szt2 A G 4: 118,376,637 probably benign Het
Tdh A T 14: 63,496,958 H80Q probably benign Het
Tshz3 A C 7: 36,770,468 K627N probably damaging Het
Usp28 C T 9: 49,035,641 P791S probably damaging Het
Wdr81 A G 11: 75,445,506 Y1686H probably damaging Het
Xpot G T 10: 121,601,362 probably benign Het
Other mutations in Zfand4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01415:Zfand4 APN 6 116314869 missense probably benign 0.14
IGL02001:Zfand4 APN 6 116273652 missense probably benign 0.11
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
PIT4802001:Zfand4 UTSW 6 116284775 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 possibly damaging 0.71
R7082:Zfand4 UTSW 6 116328376 intron probably null
Z1176:Zfand4 UTSW 6 116313921 missense probably damaging 0.98
Z1177:Zfand4 UTSW 6 116313921 missense probably damaging 0.98
Posted On2014-05-07