Incidental Mutation 'R2167:Zfp235'
ID 235542
Institutional Source Beutler Lab
Gene Symbol Zfp235
Ensembl Gene ENSMUSG00000047603
Gene Name zinc finger protein 235
Synonyms 0610030O19Rik
MMRRC Submission 040170-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2167 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 23833594-23842666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23840387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 269 (S269T)
Ref Sequence ENSEMBL: ENSMUSP00000050803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056549] [ENSMUST00000205680]
AlphaFold Q499D5
Predicted Effect possibly damaging
Transcript: ENSMUST00000056549
AA Change: S269T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050803
Gene: ENSMUSG00000047603
AA Change: S269T

DomainStartEndE-ValueType
KRAB 8 71 1.09e-15 SMART
ZnF_C2H2 283 305 1.79e-2 SMART
ZnF_C2H2 311 333 3.16e-3 SMART
ZnF_C2H2 339 361 1.18e-2 SMART
ZnF_C2H2 367 389 6.99e-5 SMART
ZnF_C2H2 395 417 1.33e-1 SMART
ZnF_C2H2 423 445 3.16e-3 SMART
ZnF_C2H2 451 473 2.84e-5 SMART
ZnF_C2H2 479 501 6.32e-3 SMART
ZnF_C2H2 507 529 3.44e-4 SMART
ZnF_C2H2 535 557 2.12e-4 SMART
ZnF_C2H2 563 585 1.38e-3 SMART
ZnF_C2H2 591 613 2.27e-4 SMART
ZnF_C2H2 619 641 5.99e-4 SMART
ZnF_C2H2 647 669 5.9e-3 SMART
ZnF_C2H2 675 697 4.87e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206809
Meta Mutation Damage Score 0.2963 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,238,532 (GRCm39) T710M probably benign Het
Acan A G 7: 78,749,705 (GRCm39) E1492G probably benign Het
Acsl1 A G 8: 46,986,627 (GRCm39) D638G possibly damaging Het
Acsl6 C A 11: 54,217,983 (GRCm39) T207K probably benign Het
Ahnak A T 19: 8,988,858 (GRCm39) K3381* probably null Het
Art1 T C 7: 101,756,031 (GRCm39) V74A probably damaging Het
Bhmt2 A T 13: 93,799,012 (GRCm39) W270R probably benign Het
Calm2 T C 17: 87,742,573 (GRCm39) T118A probably benign Het
Ccdc88b G T 19: 6,831,452 (GRCm39) Q497K possibly damaging Het
Ccne2 A T 4: 11,197,249 (GRCm39) M183L probably benign Het
Cdc42bpg A G 19: 6,367,707 (GRCm39) I1026V probably damaging Het
Celsr2 T C 3: 108,320,509 (GRCm39) T768A probably damaging Het
Cog5 T C 12: 31,887,288 (GRCm39) F470L probably damaging Het
Cpne5 T C 17: 29,381,306 (GRCm39) D374G probably damaging Het
Disp2 A C 2: 118,622,166 (GRCm39) E966A probably damaging Het
Dmrtc2 C T 7: 24,573,344 (GRCm39) probably benign Het
Eif2b3 T A 4: 116,885,737 (GRCm39) I93N probably damaging Het
Elfn2 C A 15: 78,556,646 (GRCm39) V634L probably benign Het
Fasl T G 1: 161,614,707 (GRCm39) S119R probably benign Het
Foxp2 C G 6: 15,437,901 (GRCm39) P701A probably damaging Het
Helz T A 11: 107,563,790 (GRCm39) probably benign Het
Kctd6 T C 14: 8,222,683 (GRCm38) V175A probably benign Het
Leo1 A G 9: 75,352,991 (GRCm39) N178S probably benign Het
Lhx6 C A 2: 35,993,371 (GRCm39) R80L probably damaging Het
Man1a2 A G 3: 100,499,216 (GRCm39) L406P probably damaging Het
Mapkap1 T C 2: 34,487,494 (GRCm39) F231L probably damaging Het
Mknk2 A G 10: 80,504,535 (GRCm39) Y256H probably damaging Het
Msh6 A G 17: 88,296,911 (GRCm39) T1203A probably damaging Het
Nbeal2 T C 9: 110,467,376 (GRCm39) Y604C probably damaging Het
Ncam1 G T 9: 49,479,781 (GRCm39) Q66K probably benign Het
Nsd2 T A 5: 34,040,263 (GRCm39) H933Q probably damaging Het
Or10h5 T A 17: 33,434,542 (GRCm39) I262F probably damaging Het
Or13p3 T C 4: 118,567,252 (GRCm39) V216A probably benign Het
Or2d3c A G 7: 106,525,797 (GRCm39) Y290H probably damaging Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rassf6 C T 5: 90,751,797 (GRCm39) E308K probably damaging Het
Rb1 T C 14: 73,449,091 (GRCm39) T680A probably damaging Het
Rfpl4 T A 7: 5,113,852 (GRCm39) I104F probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnase6 A C 14: 51,367,974 (GRCm39) D122A probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,229,113 (GRCm39) probably benign Het
Sec31b G A 19: 44,531,792 (GRCm39) T39I possibly damaging Het
Slc12a1 A G 2: 125,015,601 (GRCm39) I385V probably damaging Het
Slc6a17 A T 3: 107,398,817 (GRCm39) Y261* probably null Het
Supt6 G A 11: 78,098,993 (GRCm39) P1626L possibly damaging Het
Tbx15 A G 3: 99,233,771 (GRCm39) probably benign Het
Telo2 A G 17: 25,329,792 (GRCm39) V240A probably benign Het
Trhr C T 15: 44,092,638 (GRCm39) L292F probably damaging Het
Trps1 G A 15: 50,695,126 (GRCm39) L340F possibly damaging Het
Ube2e1 T C 14: 18,284,429 (GRCm38) probably benign Het
Yeats2 T C 16: 20,032,151 (GRCm39) probably benign Het
Zbtb39 G A 10: 127,578,844 (GRCm39) E473K probably benign Het
Zfp580 C A 7: 5,056,063 (GRCm39) P141Q possibly damaging Het
Other mutations in Zfp235
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Zfp235 APN 7 23,836,505 (GRCm39) missense probably damaging 1.00
IGL02326:Zfp235 APN 7 23,834,727 (GRCm39) start codon destroyed probably null 0.98
R0107:Zfp235 UTSW 7 23,836,541 (GRCm39) missense probably damaging 1.00
R0271:Zfp235 UTSW 7 23,836,556 (GRCm39) missense possibly damaging 0.93
R0513:Zfp235 UTSW 7 23,841,644 (GRCm39) missense probably damaging 1.00
R1004:Zfp235 UTSW 7 23,840,169 (GRCm39) missense probably damaging 1.00
R1928:Zfp235 UTSW 7 23,840,563 (GRCm39) nonsense probably null
R1958:Zfp235 UTSW 7 23,839,771 (GRCm39) missense probably damaging 0.98
R2511:Zfp235 UTSW 7 23,841,549 (GRCm39) missense probably damaging 1.00
R3013:Zfp235 UTSW 7 23,840,157 (GRCm39) missense probably damaging 0.98
R3806:Zfp235 UTSW 7 23,840,046 (GRCm39) missense probably benign 0.01
R4613:Zfp235 UTSW 7 23,841,101 (GRCm39) missense probably damaging 1.00
R4876:Zfp235 UTSW 7 23,840,384 (GRCm39) missense probably benign 0.01
R4977:Zfp235 UTSW 7 23,841,609 (GRCm39) missense possibly damaging 0.94
R5085:Zfp235 UTSW 7 23,836,546 (GRCm39) missense probably damaging 0.96
R5664:Zfp235 UTSW 7 23,841,576 (GRCm39) missense probably damaging 1.00
R6440:Zfp235 UTSW 7 23,840,040 (GRCm39) missense probably damaging 0.96
R6650:Zfp235 UTSW 7 23,836,463 (GRCm39) splice site probably null
R7694:Zfp235 UTSW 7 23,841,525 (GRCm39) missense probably benign 0.37
R8031:Zfp235 UTSW 7 23,841,114 (GRCm39) missense probably benign 0.19
R8188:Zfp235 UTSW 7 23,841,296 (GRCm39) missense probably damaging 1.00
R8744:Zfp235 UTSW 7 23,839,924 (GRCm39) missense possibly damaging 0.56
R9115:Zfp235 UTSW 7 23,841,453 (GRCm39) missense probably damaging 1.00
R9244:Zfp235 UTSW 7 23,839,919 (GRCm39) missense probably benign 0.00
R9401:Zfp235 UTSW 7 23,841,551 (GRCm39) missense probably damaging 1.00
R9404:Zfp235 UTSW 7 23,839,862 (GRCm39) missense possibly damaging 0.92
R9523:Zfp235 UTSW 7 23,840,381 (GRCm39) missense probably benign 0.00
R9563:Zfp235 UTSW 7 23,841,669 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GACATTCTGAATTGCATTTCCCATC -3'
(R):5'- AGCATACAGGTGTGAGCTCTG -3'

Sequencing Primer
(F):5'- GGTGACTGTGATCAAGTCATCTTCC -3'
(R):5'- CATACAGGTGTGAGCTCTGGTTAAAG -3'
Posted On 2014-10-01