Incidental Mutation 'R5038:Zfp335'
ID 393093
Institutional Source Beutler Lab
Gene Symbol Zfp335
Ensembl Gene ENSMUSG00000039834
Gene Name zinc finger protein 335
Synonyms 1810045J01Rik
MMRRC Submission 042628-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5038 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164733802-164753677 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 164752564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 60 (S60*)
Ref Sequence ENSEMBL: ENSMUSP00000139133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041361] [ENSMUST00000139247] [ENSMUST00000183830]
AlphaFold A2A5K6
Predicted Effect probably null
Transcript: ENSMUST00000041361
AA Change: S60*
SMART Domains Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: S60*

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 noncoding transcript
Transcript: ENSMUST00000129364
Predicted Effect probably benign
Transcript: ENSMUST00000139247
SMART Domains Protein: ENSMUSP00000138664
Gene: ENSMUSG00000039834

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
low complexity region 30 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142338
Predicted Effect probably null
Transcript: ENSMUST00000183830
AA Change: S60*
SMART Domains Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834
AA Change: S60*

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 0.9711 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 94% (64/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik A T 11: 11,539,375 (GRCm39) probably null Het
Abtb2 G T 2: 103,397,408 (GRCm39) G113C probably damaging Het
Acsm5 A G 7: 119,134,034 (GRCm39) T272A probably damaging Het
Adprs C T 4: 126,211,102 (GRCm39) E272K possibly damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Atp7b A C 8: 22,518,472 (GRCm39) I122S possibly damaging Het
B230219D22Rik T C 13: 55,847,288 (GRCm39) Y134H probably damaging Het
Bnc1 A G 7: 81,618,462 (GRCm39) S868P probably damaging Het
Camta1 T C 4: 151,229,926 (GRCm39) E302G probably damaging Het
Car1 A G 3: 14,835,933 (GRCm39) Y129H probably damaging Het
Cdh22 T C 2: 164,984,197 (GRCm39) T352A probably benign Het
Ckmt2 T C 13: 92,009,282 (GRCm39) E215G probably benign Het
Cyb5r4 T G 9: 86,941,130 (GRCm39) probably null Het
Dhrs13 A G 11: 77,923,256 (GRCm39) probably benign Het
Dsg1c G A 18: 20,397,901 (GRCm39) A34T probably benign Het
Epb41l1 T C 2: 156,363,330 (GRCm39) V613A probably benign Het
Fam114a1 A G 5: 65,166,388 (GRCm39) M240V probably damaging Het
Gm15455 T C 1: 33,877,257 (GRCm39) noncoding transcript Het
Herc1 T G 9: 66,383,742 (GRCm39) probably benign Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Ifna15 T C 4: 88,476,266 (GRCm39) N73D probably benign Het
Imp4 A T 1: 34,482,016 (GRCm39) L45F probably damaging Het
Jak3 G A 8: 72,138,702 (GRCm39) A967T probably damaging Het
Krtap19-2 A T 16: 88,670,916 (GRCm39) Y76* probably null Het
Map4k5 A T 12: 69,871,388 (GRCm39) N492K probably damaging Het
Mycbp2 C T 14: 103,534,375 (GRCm39) R372H probably damaging Het
Nos2 G A 11: 78,813,140 (GRCm39) S16N probably benign Het
Nr2c2 A G 6: 92,116,803 (GRCm39) T2A probably damaging Het
Nup188 T C 2: 30,199,232 (GRCm39) Y267H probably damaging Het
Nxph2 G A 2: 23,211,556 (GRCm39) probably null Het
Or5b107 T A 19: 13,142,955 (GRCm39) D192E probably benign Het
Or5b96 T A 19: 12,867,770 (GRCm39) H57L probably damaging Het
Or9i1b T A 19: 13,896,822 (GRCm39) V146E possibly damaging Het
Otof C T 5: 30,541,783 (GRCm39) E761K possibly damaging Het
Pik3r1 C T 13: 101,825,952 (GRCm39) R37Q probably damaging Het
Pkn3 T C 2: 29,975,293 (GRCm39) probably null Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Ptpn14 T C 1: 189,519,083 (GRCm39) S38P probably damaging Het
Raf1 G A 6: 115,597,196 (GRCm39) Q35* probably null Het
Rps3a1 C A 3: 86,045,338 (GRCm39) E251D probably benign Het
Scd1 C T 19: 44,390,148 (GRCm39) V207M probably damaging Het
Shq1 A G 6: 100,607,954 (GRCm39) V319A probably benign Het
Slc4a8 T C 15: 100,693,702 (GRCm39) Y416H probably damaging Het
Slco1a5 T C 6: 142,208,363 (GRCm39) T143A probably benign Het
Slco1a5 C T 6: 142,212,090 (GRCm39) G90D probably damaging Het
Snx9 T C 17: 5,937,348 (GRCm39) V30A probably benign Het
Spdya T C 17: 71,895,561 (GRCm39) probably benign Het
Stat1 A T 1: 52,162,368 (GRCm39) N75I probably damaging Het
Sv2b A T 7: 74,807,173 (GRCm39) M159K probably damaging Het
Tdh A T 14: 63,733,575 (GRCm39) Y89* probably null Het
Tmc7 A G 7: 118,142,588 (GRCm39) F600S probably damaging Het
Trpa1 T A 1: 14,981,090 (GRCm39) H104L probably damaging Het
Ttn G A 2: 76,678,984 (GRCm39) probably benign Het
Vmn1r113 A G 7: 20,521,419 (GRCm39) I70M possibly damaging Het
Vmn1r171 A G 7: 23,332,188 (GRCm39) M138V probably benign Het
Zfc3h1 G A 10: 115,240,116 (GRCm39) V550I probably benign Het
Zfp7 T C 15: 76,776,010 (GRCm39) M684T probably benign Het
Zfp984 T A 4: 147,839,903 (GRCm39) H316L probably damaging Het
Zmym2 T A 14: 57,193,637 (GRCm39) Y1151N possibly 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
R5000:Zfp335 UTSW 2 164,736,588 (GRCm39) missense probably benign
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'- GTATGTCTCTTAGCCATGGGAC -3'
(R):5'- ATCGCCCAGCAGAGTGAAAG -3'

Sequencing Primer
(F):5'- CTCTTAGCCATGGGACTTGTCAAAAC -3'
(R):5'- GGTCCCCAGAACCAATGGAG -3'
Posted On 2016-06-15