Incidental Mutation 'R1023:Zfp335'
ID 94591
Institutional Source Beutler Lab
Gene Symbol Zfp335
Ensembl Gene ENSMUSG00000039834
Gene Name zinc finger protein 335
Synonyms 1810045J01Rik
MMRRC Submission 039125-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1023 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164733802-164753677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 164734505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 1254 (H1254Y)
Ref Sequence ENSEMBL: ENSMUSP00000038298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041361] [ENSMUST00000041643] [ENSMUST00000183830]
AlphaFold A2A5K6
Predicted Effect possibly damaging
Transcript: ENSMUST00000041361
AA Change: H1254Y

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: H1254Y

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 0.2742 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,772,632 (GRCm39) A607V probably damaging Het
4930523C07Rik A G 1: 159,905,057 (GRCm39) probably benign Het
Ap3d1 A T 10: 80,550,092 (GRCm39) L713Q probably damaging Het
Baz2a A G 10: 127,957,676 (GRCm39) T1010A possibly damaging Het
Cdh15 T C 8: 123,591,939 (GRCm39) I608T probably damaging Het
Cdkl2 A T 5: 92,187,145 (GRCm39) D40E possibly damaging Het
Col9a2 G A 4: 120,901,207 (GRCm39) G118R unknown Het
Cryge C A 1: 65,089,945 (GRCm39) C79F probably damaging Het
Dapk1 T C 13: 60,878,799 (GRCm39) L596P probably damaging Het
Dqx1 G A 6: 83,038,070 (GRCm39) C486Y probably damaging Het
Dync2i1 T C 12: 116,196,277 (GRCm39) E490G probably damaging Het
Enam A G 5: 88,649,826 (GRCm39) Q445R probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnpat A T 8: 125,597,519 (GRCm39) D27V probably benign Het
Htr5a A T 5: 28,047,996 (GRCm39) T184S possibly damaging Het
Lap3 C T 5: 45,652,553 (GRCm39) P50S probably benign Het
Mamdc2 A T 19: 23,288,271 (GRCm39) M589K probably damaging Het
Mast4 A G 13: 102,872,004 (GRCm39) S2263P probably benign Het
Mef2b C T 8: 70,618,247 (GRCm39) P109L possibly damaging Het
Meltf T A 16: 31,703,778 (GRCm39) F168L probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nup205 T A 6: 35,211,641 (GRCm39) F1661I probably damaging Het
Or11h4b A T 14: 50,918,473 (GRCm39) L206H probably damaging Het
Or5h19 A T 16: 58,856,178 (GRCm39) N307K probably benign Het
Plac8 A T 5: 100,704,447 (GRCm39) D83E probably benign Het
Pnpt1 T C 11: 29,091,328 (GRCm39) probably benign Het
Pold2 G T 11: 5,825,140 (GRCm39) Q86K probably benign Het
Ptprt A G 2: 161,400,863 (GRCm39) L1057P probably damaging Het
Rev3l A G 10: 39,708,635 (GRCm39) H2284R probably damaging Het
Scart1 T A 7: 139,804,376 (GRCm39) C484S possibly damaging Het
Skint6 A C 4: 113,095,300 (GRCm39) S120A probably benign Het
Slc1a7 G A 4: 107,864,770 (GRCm39) V270M probably damaging Het
Spata2 A G 2: 167,327,142 (GRCm39) M85T probably benign Het
Taf1b G T 12: 24,559,558 (GRCm39) probably benign Het
Tert A G 13: 73,790,178 (GRCm39) N844S probably benign Het
Thrap3 G A 4: 126,073,882 (GRCm39) S288L possibly damaging Het
Ubap2l A G 3: 89,955,180 (GRCm39) probably benign Het
Ubtf T C 11: 102,202,276 (GRCm39) E197G possibly damaging Het
Usp20 G T 2: 30,897,825 (GRCm39) G216W probably damaging Het
Yy1 T A 12: 108,759,457 (GRCm39) V40E unknown 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
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
R5000:Zfp335 UTSW 2 164,736,588 (GRCm39) missense probably benign
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'- TATCCGGTCCATACCTGTGACAGC -3'
(R):5'- AGACAGTACAGCATCTGGTGACCTC -3'

Sequencing Primer
(F):5'- CATACCTGTGACAGCGGAGTG -3'
(R):5'- TGAGGCCATTGTCCATAGC -3'
Posted On 2014-01-05