Incidental Mutation 'R7174:Zfp335'
ID 558470
Institutional Source Beutler Lab
Gene Symbol Zfp335
Ensembl Gene ENSMUSG00000039834
Gene Name zinc finger protein 335
Synonyms 1810045J01Rik
MMRRC Submission 045266-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7174 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164733802-164753677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 164744423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 451 (Y451N)
Ref Sequence ENSEMBL: ENSMUSP00000038298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041361] [ENSMUST00000139247] [ENSMUST00000183830]
AlphaFold A2A5K6
Predicted Effect probably damaging
Transcript: ENSMUST00000041361
AA Change: Y451N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
AA Change: Y451N

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: Y451N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834
AA Change: Y451N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 97% (61/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C A 5: 144,981,627 (GRCm39) A154E probably benign Het
Adamts1 C A 16: 85,596,060 (GRCm39) A419S probably benign Het
Arap2 C G 5: 62,761,621 (GRCm39) V1702L probably benign Het
Arpc1a C T 5: 145,034,087 (GRCm39) P152S probably benign Het
Bbs10 T A 10: 111,136,628 (GRCm39) C580* probably null Het
Bcam A G 7: 19,499,376 (GRCm39) Y216H probably damaging Het
C2cd3 T C 7: 100,081,405 (GRCm39) S1016P Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ceacam5 T A 7: 17,491,839 (GRCm39) probably null Het
Cfap57 A G 4: 118,446,264 (GRCm39) V666A probably benign Het
Cntn3 A G 6: 102,142,305 (GRCm39) F1021L probably benign Het
Cr1l C T 1: 194,811,497 (GRCm39) G119D probably benign Het
Fgf10 A T 13: 118,851,942 (GRCm39) H8L probably benign Het
Fras1 T A 5: 96,903,436 (GRCm39) probably null Het
Frem1 G T 4: 82,840,493 (GRCm39) T1811N probably benign Het
Fsd1 A T 17: 56,298,356 (GRCm39) Q227L probably benign Het
Galk2 A G 2: 125,738,621 (GRCm39) I138M probably damaging Het
Igkv8-30 A G 6: 70,094,582 (GRCm39) V7A possibly damaging Het
Katnb1 G A 8: 95,824,069 (GRCm39) A450T probably benign Het
Kif14 A T 1: 136,448,995 (GRCm39) E1465V possibly damaging Het
Klra3 A T 6: 130,312,941 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lepr A G 4: 101,607,535 (GRCm39) N251S probably benign Het
Lrp2 T C 2: 69,263,416 (GRCm39) M4379V probably benign Het
Lrriq1 T C 10: 103,060,826 (GRCm39) N92S probably benign Het
Map3k13 A G 16: 21,745,006 (GRCm39) N855S probably damaging Het
Marf1 T A 16: 13,954,817 (GRCm39) D900V probably damaging Het
Nckap5l A T 15: 99,321,884 (GRCm39) M1087K probably benign Het
Nlrp9c T C 7: 26,084,722 (GRCm39) N286D probably benign Het
Or12j4 T C 7: 140,047,076 (GRCm39) *321Q probably null Het
Or13c7d C T 4: 43,770,691 (GRCm39) A107T not run Het
Or4k2 T C 14: 50,424,153 (GRCm39) I175V probably benign Het
Or51ah3 A T 7: 103,210,598 (GRCm39) R305* probably null Het
Or5g9 C T 2: 85,552,297 (GRCm39) P183S possibly damaging Het
Or5p72 T A 7: 108,022,367 (GRCm39) S196R probably benign Het
Pcdhga3 A G 18: 37,808,980 (GRCm39) T478A probably benign Het
Pdgfrb T C 18: 61,199,587 (GRCm39) I385T probably benign Het
Poteg C T 8: 27,943,305 (GRCm39) R192W probably benign Het
Prmt2 G T 10: 76,061,173 (GRCm39) D104E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rlbp1 T C 7: 79,027,090 (GRCm39) N190S possibly damaging Het
Ryr2 T C 13: 11,816,063 (GRCm39) D641G possibly damaging Het
Sh3gl1 A T 17: 56,324,846 (GRCm39) M303K probably benign Het
Slc26a5 A G 5: 22,018,892 (GRCm39) V649A probably damaging Het
Slco4c1 T C 1: 96,765,323 (GRCm39) N376D possibly damaging Het
Socs3 A T 11: 117,858,553 (GRCm39) Y168* probably null Het
Spata31d1d A T 13: 59,876,394 (GRCm39) N380K possibly damaging Het
Speer1c T C 5: 10,295,237 (GRCm39) K56E probably damaging Het
Ssbp3 A G 4: 106,894,843 (GRCm39) N254S probably benign Het
Stard10 C T 7: 100,995,226 (GRCm39) S326L probably damaging Het
Taf2 T C 15: 54,912,135 (GRCm39) D524G possibly damaging Het
Taf7 A T 18: 37,776,053 (GRCm39) S171R probably damaging Het
Tchh C T 3: 93,353,478 (GRCm39) R973C unknown Het
Tmem67 T C 4: 12,077,337 (GRCm39) R172G possibly damaging Het
Top2a C A 11: 98,914,922 (GRCm39) probably benign Het
Ttc8 T A 12: 98,940,960 (GRCm39) N323K possibly damaging Het
Txnl1 T C 18: 63,804,667 (GRCm39) N276D probably benign Het
Usp24 T G 4: 106,219,878 (GRCm39) probably null Het
Vmn1r18 A C 6: 57,366,609 (GRCm39) probably null Het
Vmn2r53 A T 7: 12,315,628 (GRCm39) H730Q probably benign Het
Wnk1 A C 6: 119,947,939 (GRCm39) I500M probably damaging Het
Zfp683 T A 4: 133,783,064 (GRCm39) I176N 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
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
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'- CCACATATGCGGCACAGATAAG -3'
(R):5'- ACAGCCTCTAGTGAGTTCGC -3'

Sequencing Primer
(F):5'- TATGCGGCACAGATAAGGCCTG -3'
(R):5'- TCTAGTGAGTTCGCAGAGCAC -3'
Posted On 2019-06-26