Incidental Mutation 'R5000:Zfp335'
ID 389795
Institutional Source Beutler Lab
Gene Symbol Zfp335
Ensembl Gene ENSMUSG00000039834
Gene Name zinc finger protein 335
Synonyms 1810045J01Rik
MMRRC Submission 042594-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5000 (G1)
Quality Score 213
Status Validated
Chromosome 2
Chromosomal Location 164733802-164753677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164736588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1016 (T1016S)
Ref Sequence ENSEMBL: ENSMUSP00000038298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041361] [ENSMUST00000041643] [ENSMUST00000183830]
AlphaFold A2A5K6
Predicted Effect probably benign
Transcript: ENSMUST00000041361
AA Change: T1016S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: T1016S

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
ZnF_C2H2 248 271 4.24e-4 SMART
low complexity region 275 282 N/A INTRINSIC
low complexity region 300 321 N/A INTRINSIC
low complexity region 340 365 N/A INTRINSIC
low complexity region 435 445 N/A INTRINSIC
ZnF_C2H2 466 488 2.17e-1 SMART
ZnF_C2H2 496 518 1.56e-2 SMART
ZnF_C2H2 524 546 8.81e-2 SMART
ZnF_C2H2 563 585 2.79e-4 SMART
ZnF_C2H2 591 613 2.53e-2 SMART
ZnF_C2H2 622 644 6.78e-3 SMART
ZnF_C2H2 650 673 8.22e-2 SMART
ZnF_C2H2 679 702 3.29e-1 SMART
low complexity region 711 726 N/A INTRINSIC
internal_repeat_3 770 937 7.16e-5 PROSPERO
low complexity region 1005 1015 N/A INTRINSIC
ZnF_C2H2 1019 1041 2.95e-3 SMART
ZnF_C2H2 1047 1069 5.5e-3 SMART
ZnF_C2H2 1075 1097 1.58e-3 SMART
ZnF_C2H2 1103 1126 3.34e-2 SMART
low complexity region 1288 1305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000041643
SMART Domains Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849

DomainStartEndE-ValueType
WW 44 77 4.34e-4 SMART
low complexity region 132 148 N/A INTRINSIC
Pfam:PCIF1_WW 445 620 7.1e-74 PFAM
low complexity region 675 686 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183830
SMART Domains Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
ZnF_C2H2 248 271 4.24e-4 SMART
low complexity region 275 282 N/A INTRINSIC
low complexity region 300 321 N/A INTRINSIC
low complexity region 340 365 N/A INTRINSIC
low complexity region 435 445 N/A INTRINSIC
ZnF_C2H2 466 488 2.17e-1 SMART
ZnF_C2H2 496 518 1.56e-2 SMART
ZnF_C2H2 524 546 8.81e-2 SMART
ZnF_C2H2 563 585 2.79e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (97/99)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,255,946 (GRCm39) F11Y probably benign Het
Abca5 A G 11: 110,201,050 (GRCm39) L450P probably damaging Het
Abi1 T A 2: 22,840,211 (GRCm39) R357W probably damaging Het
Acot7 G A 4: 152,270,820 (GRCm39) G55R probably benign Het
Aicda G A 6: 122,538,826 (GRCm39) V14I probably damaging Het
Anxa4 G T 6: 86,742,766 (GRCm39) probably benign Het
Apobr T A 7: 126,185,729 (GRCm39) D413E possibly damaging Het
Ash1l T C 3: 88,965,941 (GRCm39) Y2448H probably damaging Het
Atf7ip A G 6: 136,559,426 (GRCm39) E749G probably damaging Het
Atp8b3 A T 10: 80,357,676 (GRCm39) N1114K possibly damaging Het
Bdnf C A 2: 109,553,993 (GRCm39) N122K probably benign Het
Boc A T 16: 44,310,517 (GRCm39) I801N probably damaging Het
Brap A T 5: 121,800,089 (GRCm39) K37* probably null Het
Ccar1 C T 10: 62,586,784 (GRCm39) E885K unknown Het
Ccdc103 A G 11: 102,774,932 (GRCm39) N177S probably benign Het
Ccdc116 G A 16: 16,959,657 (GRCm39) P344L possibly damaging Het
Cdca5 T C 19: 6,135,463 (GRCm39) S28P possibly damaging Het
Ceacam20 T C 7: 19,699,453 (GRCm39) I14T probably damaging Het
Chrnb1 A T 11: 69,677,858 (GRCm39) V298E probably damaging Het
Cnksr3 G A 10: 7,076,746 (GRCm39) Q149* probably null Het
Csnk1a1 T C 18: 61,711,840 (GRCm39) F97L probably damaging Het
Dag1 A T 9: 108,085,216 (GRCm39) S642T probably benign Het
Dedd2 A G 7: 24,903,068 (GRCm39) V297A possibly damaging Het
Dhcr7 C T 7: 143,395,060 (GRCm39) T189M possibly damaging Het
Dlgap1 T C 17: 71,073,053 (GRCm39) S691P probably damaging Het
Dmgdh A C 13: 93,825,046 (GRCm39) H123P probably damaging Het
Dnah6 C T 6: 73,121,798 (GRCm39) V1395I probably benign Het
Dnah7a T C 1: 53,606,201 (GRCm39) Y1273C probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Elac2 T C 11: 64,876,379 (GRCm39) F3L probably benign Het
Elovl7 A T 13: 108,410,915 (GRCm39) K163N probably benign Het
Epg5 T C 18: 77,997,376 (GRCm39) V413A probably benign Het
Espl1 T A 15: 102,206,986 (GRCm39) L150Q probably damaging Het
F2rl3 T A 8: 73,489,307 (GRCm39) L178Q probably damaging Het
Fam120a T C 13: 49,051,143 (GRCm39) E754G probably damaging Het
Fam53b T C 7: 132,317,730 (GRCm39) N304S probably benign Het
Fbxo41 T C 6: 85,460,901 (GRCm39) E269G probably damaging Het
Fcrla T C 1: 170,749,959 (GRCm39) T4A probably benign Het
Frmpd1 A T 4: 45,261,931 (GRCm39) probably null Het
Gm9376 A G 14: 118,504,702 (GRCm39) M45V probably benign Het
Gpr68 G A 12: 100,844,596 (GRCm39) A316V probably benign Het
Hmgcl G A 4: 135,689,511 (GRCm39) C323Y probably benign Het
Hnrnpu T C 1: 178,156,941 (GRCm39) probably benign Het
Ier2 T A 8: 85,389,353 (GRCm39) I10F probably damaging Het
Ip6k1 C T 9: 107,922,798 (GRCm39) Q234* probably null Het
Llgl2 T C 11: 115,735,728 (GRCm39) V108A probably benign Het
Lrfn3 T C 7: 30,059,805 (GRCm39) N140S possibly damaging Het
Lrig1 T A 6: 94,588,430 (GRCm39) H573L probably damaging Het
Lrrk2 T A 15: 91,634,081 (GRCm39) W1393R probably damaging Het
Mrc1 T A 2: 14,249,000 (GRCm39) Y179N probably damaging Het
Mtfr1 C T 3: 19,265,743 (GRCm39) L93F probably damaging Het
Muc19 T C 15: 91,757,429 (GRCm39) noncoding transcript Het
Ndst2 C T 14: 20,774,975 (GRCm39) probably null Het
Nmd3 A T 3: 69,624,735 (GRCm39) probably benign Het
Nsd3 A G 8: 26,172,593 (GRCm39) Y784C probably damaging Het
Or4a27 A T 2: 88,559,910 (GRCm39) I11N probably damaging Het
Or7a36 G A 10: 78,820,514 (GRCm39) V297I probably benign Het
Papln A G 12: 83,821,663 (GRCm39) Y297C probably damaging Het
Pdhx T C 2: 102,871,385 (GRCm39) probably null Het
Pdpk1 T C 17: 24,330,019 (GRCm39) T6A possibly damaging Het
Prcp T C 7: 92,568,368 (GRCm39) W267R probably damaging Het
Prg2 T C 2: 84,812,367 (GRCm39) S26P probably benign Het
Psg26 A T 7: 18,214,057 (GRCm39) Y202N possibly damaging Het
Psrc1 T C 3: 108,287,839 (GRCm39) probably benign Het
Rap1gds1 A T 3: 138,662,011 (GRCm39) M366K probably damaging Het
Robo4 G T 9: 37,319,664 (GRCm39) R527L probably benign Het
Sel1l3 G A 5: 53,357,776 (GRCm39) T72M probably damaging Het
Selenoo G A 15: 88,978,387 (GRCm39) R270H probably damaging Het
Sema3d A G 5: 12,498,005 (GRCm39) T4A probably benign Het
Shroom1 A T 11: 53,357,944 (GRCm39) probably benign Het
Slc25a19 T C 11: 115,507,497 (GRCm39) probably null Het
Snx29 A C 16: 11,221,371 (GRCm39) I266L probably damaging Het
Spo11 T C 2: 172,831,193 (GRCm39) S255P probably damaging Het
Spock3 T C 8: 63,698,158 (GRCm39) V167A possibly damaging Het
Tmc7 A G 7: 118,158,077 (GRCm39) probably null Het
Tmtc4 A G 14: 123,170,743 (GRCm39) V509A possibly damaging Het
Trim24 A G 6: 37,935,547 (GRCm39) D880G probably benign Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr4 T A 4: 139,163,480 (GRCm39) C2627S probably damaging Het
Unc5d A T 8: 29,205,775 (GRCm39) M512K possibly damaging Het
Usp18 A G 6: 121,229,479 (GRCm39) R33G possibly damaging Het
Utp23 T A 15: 51,745,569 (GRCm39) V23D probably damaging Het
Wdr17 T A 8: 55,118,161 (GRCm39) M512L possibly damaging Het
Wdr64 T A 1: 175,553,941 (GRCm39) probably null Het
Zbtb6 T C 2: 37,319,251 (GRCm39) T226A probably benign Het
Zc3hc1 T A 6: 30,375,987 (GRCm39) H191L possibly damaging Het
Zdhhc4 C A 5: 143,310,688 (GRCm39) C48F probably damaging Het
Zfp583 A G 7: 6,328,473 (GRCm39) Y39H probably damaging Het
Other mutations in Zfp335
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Zfp335 APN 2 164,734,302 (GRCm39) missense probably damaging 1.00
IGL00921:Zfp335 APN 2 164,736,696 (GRCm39) missense possibly damaging 0.51
IGL00980:Zfp335 APN 2 164,744,594 (GRCm39) nonsense probably null
IGL01145:Zfp335 APN 2 164,749,422 (GRCm39) missense probably benign 0.03
IGL01568:Zfp335 APN 2 164,736,708 (GRCm39) missense possibly damaging 0.70
IGL01612:Zfp335 APN 2 164,752,540 (GRCm39) critical splice donor site probably null
IGL02138:Zfp335 APN 2 164,735,724 (GRCm39) missense probably damaging 1.00
IGL02675:Zfp335 APN 2 164,752,609 (GRCm39) missense probably benign
IGL03206:Zfp335 APN 2 164,734,601 (GRCm39) splice site probably benign
IGL03269:Zfp335 APN 2 164,742,274 (GRCm39) missense probably damaging 1.00
IGL03306:Zfp335 APN 2 164,737,904 (GRCm39) splice site probably benign
FR4342:Zfp335 UTSW 2 164,749,397 (GRCm39) small insertion probably benign
FR4342:Zfp335 UTSW 2 164,749,385 (GRCm39) small insertion probably benign
FR4449:Zfp335 UTSW 2 164,749,403 (GRCm39) small insertion probably benign
FR4449:Zfp335 UTSW 2 164,749,397 (GRCm39) small insertion probably benign
FR4548:Zfp335 UTSW 2 164,749,392 (GRCm39) small insertion probably benign
FR4737:Zfp335 UTSW 2 164,749,404 (GRCm39) small insertion probably benign
FR4737:Zfp335 UTSW 2 164,749,395 (GRCm39) small insertion probably benign
FR4737:Zfp335 UTSW 2 164,749,394 (GRCm39) small insertion probably benign
FR4976:Zfp335 UTSW 2 164,749,398 (GRCm39) small insertion probably benign
FR4976:Zfp335 UTSW 2 164,749,394 (GRCm39) small insertion probably benign
PIT4403001:Zfp335 UTSW 2 164,735,636 (GRCm39) missense possibly damaging 0.56
R0005:Zfp335 UTSW 2 164,751,222 (GRCm39) missense possibly damaging 0.91
R0101:Zfp335 UTSW 2 164,741,910 (GRCm39) missense probably damaging 1.00
R0196:Zfp335 UTSW 2 164,738,065 (GRCm39) missense possibly damaging 0.88
R0211:Zfp335 UTSW 2 164,749,612 (GRCm39) missense probably damaging 1.00
R0211:Zfp335 UTSW 2 164,749,612 (GRCm39) missense probably damaging 1.00
R0533:Zfp335 UTSW 2 164,749,842 (GRCm39) nonsense probably null
R0865:Zfp335 UTSW 2 164,741,415 (GRCm39) splice site probably null
R1023:Zfp335 UTSW 2 164,734,505 (GRCm39) missense possibly damaging 0.88
R1029:Zfp335 UTSW 2 164,734,598 (GRCm39) splice site probably benign
R1052:Zfp335 UTSW 2 164,749,388 (GRCm39) small deletion probably benign
R1106:Zfp335 UTSW 2 164,749,471 (GRCm39) small deletion probably benign
R1146:Zfp335 UTSW 2 164,738,043 (GRCm39) missense probably benign 0.01
R1146:Zfp335 UTSW 2 164,738,043 (GRCm39) missense probably benign 0.01
R1274:Zfp335 UTSW 2 164,749,388 (GRCm39) small deletion probably benign
R1386:Zfp335 UTSW 2 164,740,161 (GRCm39) missense probably benign 0.00
R1433:Zfp335 UTSW 2 164,741,376 (GRCm39) missense probably damaging 0.99
R1813:Zfp335 UTSW 2 164,734,525 (GRCm39) missense probably damaging 0.99
R1959:Zfp335 UTSW 2 164,736,722 (GRCm39) missense probably damaging 1.00
R2372:Zfp335 UTSW 2 164,736,959 (GRCm39) missense probably damaging 1.00
R3847:Zfp335 UTSW 2 164,742,026 (GRCm39) splice site probably null
R3937:Zfp335 UTSW 2 164,752,620 (GRCm39) missense probably damaging 1.00
R3946:Zfp335 UTSW 2 164,734,109 (GRCm39) missense probably damaging 1.00
R3979:Zfp335 UTSW 2 164,752,558 (GRCm39) missense probably benign 0.00
R4019:Zfp335 UTSW 2 164,743,380 (GRCm39) missense probably damaging 1.00
R4020:Zfp335 UTSW 2 164,743,380 (GRCm39) missense probably damaging 1.00
R4668:Zfp335 UTSW 2 164,742,206 (GRCm39) missense probably damaging 1.00
R5038:Zfp335 UTSW 2 164,752,564 (GRCm39) nonsense probably null
R5245:Zfp335 UTSW 2 164,736,678 (GRCm39) missense probably benign
R5411:Zfp335 UTSW 2 164,744,165 (GRCm39) missense probably damaging 0.99
R5422:Zfp335 UTSW 2 164,749,650 (GRCm39) missense probably damaging 1.00
R5968:Zfp335 UTSW 2 164,734,314 (GRCm39) missense probably damaging 0.99
R6056:Zfp335 UTSW 2 164,737,018 (GRCm39) splice site probably null
R6551:Zfp335 UTSW 2 164,751,285 (GRCm39) missense probably benign
R6927:Zfp335 UTSW 2 164,735,640 (GRCm39) missense probably damaging 1.00
R6943:Zfp335 UTSW 2 164,736,795 (GRCm39) missense possibly damaging 0.50
R6995:Zfp335 UTSW 2 164,735,210 (GRCm39) nonsense probably null
R7174:Zfp335 UTSW 2 164,744,423 (GRCm39) missense probably damaging 1.00
R7185:Zfp335 UTSW 2 164,735,164 (GRCm39) critical splice donor site probably null
R7296:Zfp335 UTSW 2 164,742,052 (GRCm39) missense probably damaging 0.99
R7322:Zfp335 UTSW 2 164,752,741 (GRCm39) start codon destroyed probably null 0.90
R7504:Zfp335 UTSW 2 164,751,338 (GRCm39) missense probably benign 0.27
R7560:Zfp335 UTSW 2 164,737,912 (GRCm39) missense probably damaging 1.00
R7637:Zfp335 UTSW 2 164,734,459 (GRCm39) critical splice donor site probably null
R8064:Zfp335 UTSW 2 164,749,620 (GRCm39) missense probably damaging 1.00
R8208:Zfp335 UTSW 2 164,735,536 (GRCm39) critical splice acceptor site probably null
R8228:Zfp335 UTSW 2 164,746,818 (GRCm39) missense probably damaging 1.00
R8271:Zfp335 UTSW 2 164,739,973 (GRCm39) missense probably damaging 0.98
R8688:Zfp335 UTSW 2 164,734,113 (GRCm39) missense probably damaging 1.00
R8803:Zfp335 UTSW 2 164,751,290 (GRCm39) missense probably benign 0.14
R9266:Zfp335 UTSW 2 164,738,007 (GRCm39) missense probably benign 0.33
R9352:Zfp335 UTSW 2 164,742,242 (GRCm39) missense probably damaging 0.99
R9487:Zfp335 UTSW 2 164,735,395 (GRCm39) missense probably damaging 0.99
R9752:Zfp335 UTSW 2 164,749,347 (GRCm39) critical splice donor site probably null
RF031:Zfp335 UTSW 2 164,749,383 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- TTATACAAATGAGTGGCCACAGAC -3'
(R):5'- TCCCAAGCCCAGATACTCTG -3'

Sequencing Primer
(F):5'- TGGCCACAGACATGAAGGC -3'
(R):5'- AGATACTCTGGCCCCTGGAAC -3'
Posted On 2016-06-06