Incidental Mutation 'R8018:Zfp444'
ID 617215
Institutional Source Beutler Lab
Gene Symbol Zfp444
Ensembl Gene ENSMUSG00000044876
Gene Name zinc finger protein 444
Synonyms 2810031J10Rik, 6230401O10Rik
MMRRC Submission 067458-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R8018 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 6175429-6196103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6191142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 108 (T108A)
Ref Sequence ENSEMBL: ENSMUSP00000050797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054680] [ENSMUST00000108565] [ENSMUST00000108566] [ENSMUST00000108567] [ENSMUST00000128495] [ENSMUST00000134933] [ENSMUST00000136777] [ENSMUST00000207176] [ENSMUST00000207329]
AlphaFold Q3TDV8
Predicted Effect probably benign
Transcript: ENSMUST00000054680
AA Change: T108A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050797
Gene: ENSMUSG00000044876
AA Change: T108A

DomainStartEndE-ValueType
SCAN 21 132 4.18e-39 SMART
low complexity region 167 183 N/A INTRINSIC
ZnF_C2H2 186 208 9.3e-1 SMART
ZnF_C2H2 214 236 8.47e-4 SMART
ZnF_C2H2 254 276 5.81e-2 SMART
ZnF_C2H2 282 304 1.45e-2 SMART
low complexity region 316 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108565
SMART Domains Protein: ENSMUSP00000104205
Gene: ENSMUSG00000044876

DomainStartEndE-ValueType
SCAN 21 129 9.98e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108566
AA Change: T108A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104206
Gene: ENSMUSG00000044876
AA Change: T108A

DomainStartEndE-ValueType
SCAN 21 132 4.18e-39 SMART
low complexity region 167 183 N/A INTRINSIC
ZnF_C2H2 186 208 9.3e-1 SMART
ZnF_C2H2 214 236 8.47e-4 SMART
ZnF_C2H2 254 276 5.81e-2 SMART
ZnF_C2H2 282 304 1.45e-2 SMART
low complexity region 316 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108567
AA Change: T108A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104207
Gene: ENSMUSG00000044876
AA Change: T108A

DomainStartEndE-ValueType
SCAN 21 132 4.18e-39 SMART
low complexity region 167 183 N/A INTRINSIC
ZnF_C2H2 186 208 9.3e-1 SMART
ZnF_C2H2 214 236 8.47e-4 SMART
ZnF_C2H2 254 276 5.81e-2 SMART
ZnF_C2H2 282 304 1.45e-2 SMART
low complexity region 316 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128495
Predicted Effect probably benign
Transcript: ENSMUST00000134933
AA Change: T108A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120003
Gene: ENSMUSG00000044876
AA Change: T108A

DomainStartEndE-ValueType
SCAN 21 112 2.13e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136777
AA Change: T108A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121948
Gene: ENSMUSG00000044876
AA Change: T108A

DomainStartEndE-ValueType
SCAN 21 132 4.18e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207176
Predicted Effect probably benign
Transcript: ENSMUST00000207329
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gene is located in a cluster of zinc finger genes on chromosome 19 at q13.4. A pseudogene of this gene is located on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,880,991 (GRCm39) T146I unknown Het
Abca16 A G 7: 120,132,866 (GRCm39) E1265G probably benign Het
Adar T C 3: 89,654,882 (GRCm39) S924P probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
AI429214 A T 8: 37,460,820 (GRCm39) probably benign Het
Ankmy1 A T 1: 92,814,003 (GRCm39) L392Q probably benign Het
Anxa3 A T 5: 96,968,288 (GRCm39) I114F probably damaging Het
Ccdc158 T C 5: 92,771,260 (GRCm39) D985G possibly damaging Het
Cndp2 C T 18: 84,686,727 (GRCm39) V432I probably benign Het
Ctbp2 T C 7: 132,616,095 (GRCm39) K280R probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dnaaf4 T A 9: 72,879,598 (GRCm39) probably benign Het
Dynap T C 18: 70,375,093 (GRCm39) T41A possibly damaging Het
Elfn2 A G 15: 78,557,968 (GRCm39) L193P probably damaging Het
Fcrl2 A T 3: 87,166,933 (GRCm39) L20* probably null Het
Flcn T C 11: 59,684,948 (GRCm39) D501G probably damaging Het
Gmip A G 8: 70,268,143 (GRCm39) E399G probably benign Het
Grm7 A G 6: 111,184,737 (GRCm39) E356G probably benign Het
Hs3st2 A G 7: 121,099,639 (GRCm39) probably null Het
Kcnh2 G A 5: 24,525,014 (GRCm39) S1158L probably damaging Het
Lancl2 A G 6: 57,690,078 (GRCm39) T104A probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Mthfd2l T A 5: 91,107,672 (GRCm39) I178N probably damaging Het
Nbeal2 G T 9: 110,458,225 (GRCm39) probably benign Het
Niban1 A T 1: 151,593,006 (GRCm39) K564* probably null Het
Nipal3 C T 4: 135,174,659 (GRCm39) R364H possibly damaging Het
Or2b4 A G 17: 38,116,038 (GRCm39) M1V probably null Het
Oxa1l A G 14: 54,600,757 (GRCm39) I77V not run Het
Phf10 T A 17: 15,174,378 (GRCm39) Q233H possibly damaging Het
Pias2 T A 18: 77,216,654 (GRCm39) N288K probably benign Het
Pramel43 T C 5: 94,761,839 (GRCm39) N244S probably benign Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Ptprd T C 4: 76,003,757 (GRCm39) T1010A probably damaging Het
Ralgapa2 T C 2: 146,182,311 (GRCm39) D1676G probably damaging Het
Rapgefl1 T G 11: 98,731,166 (GRCm39) probably null Het
Rrp7a C T 15: 83,001,125 (GRCm39) E269K possibly damaging Het
Ryr3 A C 2: 112,508,777 (GRCm39) M3399R probably damaging Het
Secisbp2l C A 2: 125,587,829 (GRCm39) R762L probably damaging Het
Smad7 T G 18: 75,502,355 (GRCm39) L110R possibly damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tcea3 T G 4: 135,985,229 (GRCm39) probably benign Het
Tdrd9 T C 12: 111,999,180 (GRCm39) V765A probably benign Het
Tdrd9 C T 12: 112,010,822 (GRCm39) R1130W probably damaging Het
Tia1 C T 6: 86,402,034 (GRCm39) P189S probably benign Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Ubxn8 A G 8: 34,113,243 (GRCm39) C204R probably damaging Het
Vmn1r76 A G 7: 11,664,810 (GRCm39) S135P probably damaging Het
Vps18 T A 2: 119,124,492 (GRCm39) L473H probably damaging Het
Other mutations in Zfp444
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0437:Zfp444 UTSW 7 6,192,408 (GRCm39) missense probably benign 0.37
R0519:Zfp444 UTSW 7 6,191,172 (GRCm39) missense probably benign 0.37
R1929:Zfp444 UTSW 7 6,192,554 (GRCm39) missense probably damaging 0.99
R2270:Zfp444 UTSW 7 6,192,554 (GRCm39) missense probably damaging 0.99
R2271:Zfp444 UTSW 7 6,192,554 (GRCm39) missense probably damaging 0.99
R5054:Zfp444 UTSW 7 6,192,792 (GRCm39) missense probably damaging 1.00
R6209:Zfp444 UTSW 7 6,192,948 (GRCm39) unclassified probably benign
R7951:Zfp444 UTSW 7 6,191,185 (GRCm39) missense probably benign 0.00
R8910:Zfp444 UTSW 7 6,187,026 (GRCm39) missense probably damaging 1.00
R9138:Zfp444 UTSW 7 6,192,690 (GRCm39) missense probably damaging 1.00
R9147:Zfp444 UTSW 7 6,192,678 (GRCm39) missense probably damaging 1.00
R9178:Zfp444 UTSW 7 6,191,157 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCACAGAAATGAGTCTTCAGTG -3'
(R):5'- CTGACTTAGCCTGGGAGACAAAG -3'

Sequencing Primer
(F):5'- GTGGCAGATCTCTAAATTCAAGGCC -3'
(R):5'- GCCTGGGAGACAAAGACTTCTTTC -3'
Posted On 2020-01-23