Incidental Mutation 'R4328:Zfp239'
ID 324466
Institutional Source Beutler Lab
Gene Symbol Zfp239
Ensembl Gene ENSMUSG00000042097
Gene Name zinc finger protein 239
Synonyms Mok2, Mok-2
MMRRC Submission 041098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4328 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 117838907-117849727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117848745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 161 (L161P)
Ref Sequence ENSEMBL: ENSMUSP00000128270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079405] [ENSMUST00000172088]
AlphaFold P24399
Predicted Effect probably damaging
Transcript: ENSMUST00000079405
AA Change: L161P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078374
Gene: ENSMUSG00000042097
AA Change: L161P

DomainStartEndE-ValueType
ZnF_C2H2 6 28 2.95e-3 SMART
ZnF_C2H2 34 56 2.2e-2 SMART
ZnF_C2H2 62 84 5.59e-4 SMART
ZnF_C2H2 90 112 1.76e-1 SMART
ZnF_C2H2 118 140 1.12e-3 SMART
ZnF_C2H2 146 168 1.03e-2 SMART
ZnF_C2H2 174 196 1.2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150936
Predicted Effect probably damaging
Transcript: ENSMUST00000172088
AA Change: L161P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128270
Gene: ENSMUSG00000042097
AA Change: L161P

DomainStartEndE-ValueType
ZnF_C2H2 6 28 2.95e-3 SMART
ZnF_C2H2 34 56 2.2e-2 SMART
ZnF_C2H2 62 84 5.59e-4 SMART
ZnF_C2H2 90 112 1.76e-1 SMART
ZnF_C2H2 118 140 1.12e-3 SMART
ZnF_C2H2 146 168 1.03e-2 SMART
ZnF_C2H2 174 196 1.2e-3 SMART
Meta Mutation Damage Score 0.5250 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300009A05Rik T C 9: 63,306,238 (GRCm39) K89R probably damaging Het
Aadacl4fm2 T A 4: 144,282,164 (GRCm39) K209N possibly damaging Het
Alcam T C 16: 52,073,579 (GRCm39) N549S possibly damaging Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Bin3 A G 14: 70,356,054 (GRCm39) I4V probably benign Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Cd55 C T 1: 130,375,104 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Col12a1 T A 9: 79,607,671 (GRCm39) T386S possibly damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Crym C T 7: 119,794,562 (GRCm39) G219E probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Eif1ad16 T A 12: 87,985,285 (GRCm39) D86V possibly damaging Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Gm3336 C T 8: 71,173,234 (GRCm39) T82I probably benign Het
Gm3604 A T 13: 62,517,079 (GRCm39) S425R possibly damaging Het
Gpn2 T C 4: 133,315,919 (GRCm39) V203A probably benign Het
Gskip T C 12: 105,666,960 (GRCm39) Y113H probably damaging Het
Hcn2 T C 10: 79,560,445 (GRCm39) Y259H probably damaging Het
Hira C A 16: 18,715,362 (GRCm39) Q87K probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kirrel1 T C 3: 86,992,081 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Ly6e C A 15: 74,830,370 (GRCm39) N73K probably damaging Het
Med12l T C 3: 59,172,688 (GRCm39) S1813P probably benign Het
Med24 A G 11: 98,597,942 (GRCm39) probably null Het
Niban1 T C 1: 151,512,169 (GRCm39) S24P possibly damaging Het
Nup210l C A 3: 90,083,142 (GRCm39) probably null Het
Or2t1 T A 14: 14,328,193 (GRCm38) F27L probably damaging Het
Or5w12 C A 2: 87,502,008 (GRCm39) R234S possibly damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Or8d1 T C 9: 38,767,132 (GRCm39) M258T possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Pax8 A G 2: 24,331,663 (GRCm39) F140S possibly damaging Het
Ppargc1b A T 18: 61,515,540 (GRCm39) C34* probably null Het
Ppp3cb A T 14: 20,581,016 (GRCm39) I136K probably damaging Het
Prep T C 10: 44,996,745 (GRCm39) V341A probably benign Het
Prickle4 C A 17: 47,999,543 (GRCm39) G337C probably damaging Het
Rabgap1 T A 2: 37,422,627 (GRCm39) Y627N probably damaging Het
Ryr1 T C 7: 28,782,484 (GRCm39) Y1953C probably damaging Het
Snrnp200 T A 2: 127,064,137 (GRCm39) V708D probably damaging Het
Tent5b C T 4: 133,213,914 (GRCm39) Q262* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem62 T A 2: 120,810,991 (GRCm39) N156K probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Twsg1 T C 17: 66,255,733 (GRCm39) T14A probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zpbp2 A G 11: 98,448,432 (GRCm39) T199A probably benign Het
Other mutations in Zfp239
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1959:Zfp239 UTSW 6 117,848,778 (GRCm39) missense probably benign 0.24
R4750:Zfp239 UTSW 6 117,848,700 (GRCm39) missense probably damaging 1.00
R4970:Zfp239 UTSW 6 117,847,478 (GRCm39) utr 5 prime probably benign
R7158:Zfp239 UTSW 6 117,848,690 (GRCm39) nonsense probably null
R7284:Zfp239 UTSW 6 117,848,716 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGAGAGGCCCTACAAGTGTG -3'
(R):5'- CTCTCTGCATGAACACACATTC -3'

Sequencing Primer
(F):5'- CCTACAAGTGTGGGGAGTGC -3'
(R):5'- ATATGCACACTCGGTCGTG -3'
Posted On 2015-06-24