Incidental Mutation 'R4004:Zfp316'
ID 311388
Institutional Source Beutler Lab
Gene Symbol Zfp316
Ensembl Gene ENSMUSG00000046658
Gene Name zinc finger protein 316
Synonyms Emzf1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R4004 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 143235452-143255777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143240874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 382 (S382P)
Ref Sequence ENSEMBL: ENSMUSP00000125416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051665] [ENSMUST00000161448]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000051665
AA Change: S382P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059418
Gene: ENSMUSG00000046658
AA Change: S382P

DomainStartEndE-ValueType
low complexity region 30 68 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 134 147 N/A INTRINSIC
KRAB 155 215 4.31e-37 SMART
low complexity region 239 262 N/A INTRINSIC
ZnF_C2H2 341 363 1.58e-3 SMART
ZnF_C2H2 369 391 1.45e-2 SMART
ZnF_C2H2 397 419 6.88e-4 SMART
ZnF_C2H2 425 447 3.63e-3 SMART
ZnF_C2H2 453 475 1.2e-3 SMART
ZnF_C2H2 481 501 2.17e1 SMART
low complexity region 524 558 N/A INTRINSIC
low complexity region 568 584 N/A INTRINSIC
low complexity region 649 664 N/A INTRINSIC
low complexity region 691 707 N/A INTRINSIC
ZnF_C2H2 708 730 1.2e-3 SMART
ZnF_C2H2 736 758 3.58e-2 SMART
ZnF_C2H2 764 786 1.45e-2 SMART
ZnF_C2H2 792 814 1.99e0 SMART
ZnF_C2H2 820 842 2.82e0 SMART
ZnF_C2H2 848 870 7.9e-4 SMART
ZnF_C2H2 876 898 1.45e-2 SMART
ZnF_C2H2 904 926 9.88e-5 SMART
ZnF_C2H2 932 954 2.09e-3 SMART
low complexity region 964 990 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161448
AA Change: S382P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125416
Gene: ENSMUSG00000046658
AA Change: S382P

DomainStartEndE-ValueType
low complexity region 30 68 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 134 147 N/A INTRINSIC
KRAB 155 215 4.31e-37 SMART
low complexity region 239 262 N/A INTRINSIC
ZnF_C2H2 341 363 1.58e-3 SMART
ZnF_C2H2 369 391 1.45e-2 SMART
ZnF_C2H2 397 419 6.88e-4 SMART
ZnF_C2H2 425 447 3.63e-3 SMART
ZnF_C2H2 453 475 1.2e-3 SMART
ZnF_C2H2 481 501 2.17e1 SMART
low complexity region 524 558 N/A INTRINSIC
low complexity region 568 584 N/A INTRINSIC
low complexity region 649 664 N/A INTRINSIC
low complexity region 691 707 N/A INTRINSIC
ZnF_C2H2 708 730 1.2e-3 SMART
ZnF_C2H2 736 758 3.58e-2 SMART
ZnF_C2H2 764 786 1.45e-2 SMART
ZnF_C2H2 792 814 1.99e0 SMART
ZnF_C2H2 820 842 2.82e0 SMART
ZnF_C2H2 848 870 7.9e-4 SMART
ZnF_C2H2 876 898 1.45e-2 SMART
ZnF_C2H2 904 926 9.88e-5 SMART
ZnF_C2H2 932 954 2.09e-3 SMART
low complexity region 964 990 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197349
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 78,750,435 (GRCm39) E1735D probably damaging Het
Ano2 A G 6: 125,990,242 (GRCm39) R788G probably damaging Het
Atg9a T C 1: 75,163,095 (GRCm39) Y335C probably damaging Het
Capn10 T A 1: 92,868,313 (GRCm39) L260Q probably damaging Het
Cblif T G 19: 11,736,371 (GRCm39) V314G probably damaging Het
Ces1d A T 8: 93,904,720 (GRCm39) F340Y probably benign Het
Cspg4b A G 13: 113,454,914 (GRCm39) Q320R probably benign Het
Ctbp2 C A 7: 132,593,502 (GRCm39) R733L probably benign Het
Dgkd T C 1: 87,863,145 (GRCm39) I64T possibly damaging Het
Dmxl2 T C 9: 54,353,674 (GRCm39) I765V probably benign Het
Dync2h1 C A 9: 7,117,404 (GRCm39) C62F probably damaging Het
F2 T C 2: 91,458,741 (GRCm39) N523S possibly damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fcgr1 A G 3: 96,191,668 (GRCm39) V380A probably benign Het
Herc2 C A 7: 55,756,213 (GRCm39) P751Q possibly damaging Het
Ikzf3 C T 11: 98,379,843 (GRCm39) E142K probably damaging Het
Kctd3 A G 1: 188,724,940 (GRCm39) S214P probably benign Het
Lrpap1 T A 5: 35,262,888 (GRCm39) K50* probably null Het
Naa11 A T 5: 97,539,652 (GRCm39) Y169N probably benign Het
Nup42 T C 5: 24,387,434 (GRCm39) I408T probably damaging Het
Or1af1 A T 2: 37,109,960 (GRCm39) H153L probably benign Het
Or2t35 C T 14: 14,408,152 (GRCm38) A308V probably benign Het
Plxnc1 G A 10: 94,630,459 (GRCm39) Q1512* probably null Het
Ptpn14 A G 1: 189,582,707 (GRCm39) N518S probably benign Het
Rapgef5 A G 12: 117,712,132 (GRCm39) I740V probably damaging Het
Ric1 C T 19: 29,557,201 (GRCm39) R429C probably benign Het
Rpn2 T C 2: 157,159,928 (GRCm39) L548P probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Slc28a1 T C 7: 80,818,786 (GRCm39) S580P probably damaging Het
Slco6c1 A G 1: 97,003,610 (GRCm39) Y496H probably damaging Het
Spag5 T C 11: 78,212,355 (GRCm39) M1101T probably benign Het
Utp11 A T 4: 124,576,230 (GRCm39) F138I probably damaging Het
Vcp G A 4: 42,983,028 (GRCm39) T606I probably damaging Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Other mutations in Zfp316
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Zfp316 APN 5 143,240,181 (GRCm39) missense probably benign 0.00
IGL01783:Zfp316 APN 5 143,248,631 (GRCm39) missense unknown
R0415:Zfp316 UTSW 5 143,250,246 (GRCm39) missense unknown
R0423:Zfp316 UTSW 5 143,238,993 (GRCm39) missense probably damaging 0.98
R1576:Zfp316 UTSW 5 143,249,849 (GRCm39) missense unknown
R1579:Zfp316 UTSW 5 143,239,317 (GRCm39) missense probably damaging 0.97
R1836:Zfp316 UTSW 5 143,239,178 (GRCm39) missense probably damaging 1.00
R2058:Zfp316 UTSW 5 143,249,161 (GRCm39) missense unknown
R4198:Zfp316 UTSW 5 143,240,226 (GRCm39) missense probably benign 0.05
R4436:Zfp316 UTSW 5 143,239,803 (GRCm39) missense probably damaging 1.00
R4961:Zfp316 UTSW 5 143,239,169 (GRCm39) missense probably damaging 0.98
R5579:Zfp316 UTSW 5 143,250,246 (GRCm39) missense unknown
R5642:Zfp316 UTSW 5 143,249,846 (GRCm39) missense unknown
R5701:Zfp316 UTSW 5 143,240,132 (GRCm39) missense probably benign 0.08
R5795:Zfp316 UTSW 5 143,248,594 (GRCm39) missense unknown
R5861:Zfp316 UTSW 5 143,249,095 (GRCm39) missense unknown
R5965:Zfp316 UTSW 5 143,250,427 (GRCm39) splice site probably null
R6414:Zfp316 UTSW 5 143,240,639 (GRCm39) missense possibly damaging 0.71
R6547:Zfp316 UTSW 5 143,239,952 (GRCm39) missense probably damaging 1.00
R6922:Zfp316 UTSW 5 143,239,280 (GRCm39) missense probably damaging 0.98
R7002:Zfp316 UTSW 5 143,249,110 (GRCm39) missense unknown
R7361:Zfp316 UTSW 5 143,240,430 (GRCm39) missense probably benign 0.01
R7414:Zfp316 UTSW 5 143,250,407 (GRCm39) missense unknown
R7693:Zfp316 UTSW 5 143,249,167 (GRCm39) missense unknown
R8749:Zfp316 UTSW 5 143,248,565 (GRCm39) missense unknown
R9368:Zfp316 UTSW 5 143,250,046 (GRCm39) critical splice donor site probably null
R9471:Zfp316 UTSW 5 143,241,161 (GRCm39) missense unknown
R9670:Zfp316 UTSW 5 143,240,348 (GRCm39) missense possibly damaging 0.86
X0022:Zfp316 UTSW 5 143,240,811 (GRCm39) missense probably damaging 0.99
Z1177:Zfp316 UTSW 5 143,239,313 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CGCAGTGTAGACATGGGTAG -3'
(R):5'- AGAACTTTCTGGTGCCCTGG -3'

Sequencing Primer
(F):5'- TAGACATGGGTAGGGCCTCTC -3'
(R):5'- GGCATTTCCCGCAGTGG -3'
Posted On 2015-04-29