Incidental Mutation 'R5411:Zfp335'
ID 427454
Institutional Source Beutler Lab
Gene Symbol Zfp335
Ensembl Gene ENSMUSG00000039834
Gene Name zinc finger protein 335
Synonyms 1810045J01Rik
MMRRC Submission 042980-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5411 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164733802-164753677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164744165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 500 (Q500L)
Ref Sequence ENSEMBL: ENSMUSP00000139133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041361] [ENSMUST00000139247] [ENSMUST00000183830]
AlphaFold A2A5K6
Predicted Effect probably damaging
Transcript: ENSMUST00000041361
AA Change: Q500L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: Q500L

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: 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 probably damaging
Transcript: ENSMUST00000183830
AA Change: Q500L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834
AA Change: Q500L

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 C A 9: 53,493,946 (GRCm39) V392F probably damaging Het
Ache C T 5: 137,288,326 (GRCm39) P11S possibly damaging Het
Ache T A 5: 137,288,692 (GRCm39) probably null Het
Acoxl A T 2: 127,696,821 (GRCm39) H23L probably benign Het
Adamtsl1 G A 4: 86,306,650 (GRCm39) probably null Het
Adar T A 3: 89,646,519 (GRCm39) F45I probably benign Het
Adgrf4 A C 17: 42,978,104 (GRCm39) L413R probably damaging Het
Atp6v1g3 A T 1: 138,215,627 (GRCm39) I96F probably benign Het
Brsk2 T C 7: 141,554,594 (GRCm39) M653T probably benign Het
Cacna1s G T 1: 136,033,549 (GRCm39) V1275L probably benign Het
Ces3b T C 8: 105,815,264 (GRCm39) V5A possibly damaging Het
Chpt1 A T 10: 88,312,969 (GRCm39) I281N probably damaging Het
Col10a1 A G 10: 34,270,553 (GRCm39) E175G probably damaging Het
Col27a1 T C 4: 63,142,902 (GRCm39) S197P probably damaging Het
Csmd1 T A 8: 15,960,471 (GRCm39) R3315W probably damaging Het
Ctnna2 T C 6: 77,091,914 (GRCm39) E443G probably damaging Het
Dhx9 G T 1: 153,356,969 (GRCm39) S93R probably benign Het
Efcab8 A G 2: 153,625,676 (GRCm39) H112R probably damaging Het
Eif3d A T 15: 77,843,887 (GRCm39) N486K probably damaging Het
Esp8 C T 17: 40,840,909 (GRCm39) R57* probably null Het
Eya3 A T 4: 132,417,090 (GRCm39) I130F probably damaging Het
Fat2 G T 11: 55,143,052 (GRCm39) L4266I probably benign Het
Fras1 T A 5: 96,793,019 (GRCm39) D983E probably benign Het
Gcc2 T C 10: 58,106,791 (GRCm39) S640P probably damaging Het
Gys2 C T 6: 142,394,147 (GRCm39) G464R probably damaging Het
Heatr5a G A 12: 51,935,026 (GRCm39) T1659I probably damaging Het
Il17ra A G 6: 120,458,403 (GRCm39) D518G probably damaging Het
Kcnk13 A G 12: 100,027,510 (GRCm39) Y195C probably damaging Het
Kmt2a T A 9: 44,759,782 (GRCm39) H722L probably damaging Het
Luzp1 C A 4: 136,270,653 (GRCm39) Q959K possibly damaging Het
Mep1b T A 18: 21,219,306 (GRCm39) H153Q probably damaging Het
Mfsd13b A T 7: 120,599,346 (GRCm39) I381F probably benign Het
Mvk A G 5: 114,597,034 (GRCm39) T334A probably benign Het
Naa30 T C 14: 49,425,008 (GRCm39) V320A probably damaging Het
Naip5 C T 13: 100,382,254 (GRCm39) G152S possibly damaging Het
Neb A C 2: 52,185,384 (GRCm39) S949R probably damaging Het
Nfya A T 17: 48,699,046 (GRCm39) I214N possibly damaging Het
Nsf G T 11: 103,773,637 (GRCm39) N292K probably damaging Het
Nup133 T C 8: 124,653,945 (GRCm39) T505A probably benign Het
Or4c1 A C 2: 89,133,920 (GRCm39) S5R probably benign Het
Or4p7 A G 2: 88,221,605 (GRCm39) T5A probably benign Het
Or5h24 T A 16: 58,919,067 (GRCm39) H96L unknown Het
Or9s23 A T 1: 92,501,546 (GRCm39) T218S probably benign Het
P4ha3 A T 7: 99,943,022 (GRCm39) R136W probably damaging Het
Parp12 A G 6: 39,067,142 (GRCm39) V550A probably damaging Het
Phf11a T C 14: 59,532,387 (GRCm39) D16G probably benign Het
Pramel31 T A 4: 144,088,207 (GRCm39) M1K probably null Het
Rab3gap2 A G 1: 185,009,342 (GRCm39) probably null Het
Sco1 A G 11: 66,954,784 (GRCm39) D263G probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sfpq T A 4: 126,915,516 (GRCm39) S103T unknown Het
Shisa7 G A 7: 4,832,975 (GRCm39) R263C probably damaging Het
Ssc4d T A 5: 135,992,254 (GRCm39) D144V probably benign Het
Stxbp5l G A 16: 36,950,213 (GRCm39) P1044L probably damaging Het
Tgm6 G A 2: 129,987,116 (GRCm39) R528Q probably benign Het
Tlr3 A T 8: 45,849,992 (GRCm39) H892Q probably benign Het
Tmc2 A G 2: 130,082,035 (GRCm39) H406R probably damaging Het
Tmtc1 A T 6: 148,345,397 (GRCm39) probably null Het
Ttc19 A G 11: 62,174,977 (GRCm39) I139M probably benign Het
Utrn G A 10: 12,524,929 (GRCm39) R2185C probably benign Het
Wdfy4 T C 14: 32,681,959 (GRCm39) N3004S probably damaging Het
Wdr3 C A 3: 100,050,300 (GRCm39) G746W probably damaging Het
Zfp804b A T 5: 6,820,071 (GRCm39) D961E probably benign Het
Zkscan16 CTTCAGCTTTCA CTTCA 4: 58,956,745 (GRCm39) probably null 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
R5038:Zfp335 UTSW 2 164,752,564 (GRCm39) nonsense probably null
R5245:Zfp335 UTSW 2 164,736,678 (GRCm39) missense probably benign
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'- GGACTCACTGTGAAGAACCC -3'
(R):5'- AGCTCAGCAAGTGCCTTCAC -3'

Sequencing Primer
(F):5'- GCATGTCTACATTCTCTCAGAAGG -3'
(R):5'- AGCAAGTGCCTTCACCCCTTC -3'
Posted On 2016-09-01