Incidental Mutation 'R1385:Zfand4'
ID163212
Institutional Source Beutler Lab
Gene Symbol Zfand4
Ensembl Gene ENSMUSG00000042213
Gene Namezinc finger, AN1-type domain 4
SynonymsAnubl1, 2810002D23Rik
MMRRC Submission 039447-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.194) question?
Stock #R1385 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location116264222-116330302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 116273638 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 10 (G10R)
Ref Sequence ENSEMBL: ENSMUSP00000152710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036503] [ENSMUST00000112900] [ENSMUST00000220845] [ENSMUST00000222494] [ENSMUST00000222819] [ENSMUST00000223495]
Predicted Effect probably damaging
Transcript: ENSMUST00000036503
AA Change: G10R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: G10R

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: ENSMUST00000112900
AA Change: G10R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: G10R

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 probably damaging
Transcript: ENSMUST00000220845
AA Change: G10R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221239
Predicted Effect probably damaging
Transcript: ENSMUST00000222494
AA Change: G10R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000222819
AA Change: G10R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000223495
AA Change: G10R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030419C18Rik AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,499,432 probably benign Het
Aldh7a1 A G 18: 56,542,285 S269P probably damaging Het
Arf3 A G 15: 98,742,613 V43A probably damaging Het
Arhgap1 C A 2: 91,670,831 N457K probably damaging Het
Arhgef6 T C X: 57,338,562 M5V probably benign Het
Ccdc39 C T 3: 33,821,412 E544K probably damaging Het
Cfap44 A G 16: 44,470,775 E1546G probably damaging Het
Cntn6 A G 6: 104,861,900 I900V probably benign Het
Edem1 A G 6: 108,846,684 N347S probably damaging Het
Erich6 A G 3: 58,636,830 I112T probably benign Het
Gemin2 A G 12: 59,018,146 probably null Het
Gm44 T A X: 90,892,268 C43S probably benign Het
Hunk T A 16: 90,472,486 V306E possibly damaging Het
Hydin A G 8: 110,523,204 I2260V probably benign Het
Itgbl1 A G 14: 123,661,511 probably null Het
Iws1 T A 18: 32,090,430 N630K probably benign Het
Lama2 C A 10: 27,224,043 R822L probably benign Het
Lrrc56 A G 7: 141,205,525 D130G probably damaging Het
Malrd1 A T 2: 16,042,228 I1722F unknown Het
Mark4 G T 7: 19,426,027 probably null Het
Muc5b T C 7: 141,862,137 V2940A probably benign Het
Mxd1 T A 6: 86,651,567 Q62L probably damaging Het
Ncapd2 A T 6: 125,173,115 S917T probably benign Het
Nr2c2 T G 6: 92,154,470 F171C probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Nynrin A T 14: 55,864,899 Q675L probably benign Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Ocstamp T C 2: 165,396,039 D435G probably benign Het
Pdzd2 T C 15: 12,411,022 T553A probably benign Het
Pllp A G 8: 94,679,368 Y96H probably benign Het
Polg2 A G 11: 106,768,323 S455P probably damaging Het
Ppp1r9b A G 11: 94,992,211 T222A probably benign Het
Prkcd G A 14: 30,607,405 T26I probably damaging Het
Prkcq A G 2: 11,256,286 H383R probably damaging Het
Prune2 A G 19: 17,124,948 I2490M possibly damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Scn9a G A 2: 66,563,542 P229L probably damaging Het
Serpinb5 A G 1: 106,876,123 T180A probably damaging Het
Slc5a2 G C 7: 128,270,631 R412P probably damaging Het
Sphk2 A G 7: 45,712,291 I82T probably damaging Het
Tedc2 T A 17: 24,216,317 E366V probably damaging Het
Tedc2 C A 17: 24,216,318 E366* probably null Het
Treml1 T G 17: 48,360,198 V37G probably damaging Het
Trim33 A G 3: 103,310,950 K272E possibly damaging Het
Trpv6 T C 6: 41,621,129 D748G probably benign Het
Ubr4 A G 4: 139,402,612 H681R probably benign Het
Uhrf1bp1l A G 10: 89,790,641 N399S possibly damaging Het
Vmn2r82 A T 10: 79,396,491 R775* probably null Het
Xpo1 T C 11: 23,261,863 L8S probably damaging Het
Zfp119a T A 17: 55,865,826 H339L probably damaging Het
Zfp407 C T 18: 84,559,773 A1072T 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
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
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
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
Predicted Primers PCR Primer
(F):5'- GGAAGGTTCAGTGTTAGGCACACTTTG -3'
(R):5'- CATGAGGCTGGAGATCTGAATTGAGAC -3'

Sequencing Primer
(F):5'- AATAGGTTCTTAGAGGATTTGGAAGG -3'
(R):5'- CAGCTTCAAAGGGTGAAACTCTTAG -3'
Posted On2014-03-17