Incidental Mutation 'R2021:Zfp644'
ID 223975
Institutional Source Beutler Lab
Gene Symbol Zfp644
Ensembl Gene ENSMUSG00000049606
Gene Name zinc finger protein 644
Synonyms BM-005, Zep-2, D5Ertd689e, 1110068L01Rik
MMRRC Submission 040030-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R2021 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 106764605-106844696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106783548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1000 (I1000V)
Ref Sequence ENSEMBL: ENSMUSP00000108316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045466] [ENSMUST00000112695] [ENSMUST00000112696] [ENSMUST00000112698] [ENSMUST00000122980] [ENSMUST00000124263] [ENSMUST00000135108] [ENSMUST00000127434] [ENSMUST00000137285] [ENSMUST00000155495]
AlphaFold E9QA22
Predicted Effect probably benign
Transcript: ENSMUST00000045466
AA Change: I969V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: I969V

DomainStartEndE-ValueType
ZnF_C2H2 411 433 1.89e-1 SMART
ZnF_C2H2 449 471 6.52e-5 SMART
ZnF_C2H2 497 519 1.99e0 SMART
ZnF_C2H2 526 549 6.4e0 SMART
ZnF_C2H2 587 610 3.72e0 SMART
low complexity region 668 676 N/A INTRINSIC
low complexity region 771 788 N/A INTRINSIC
ZnF_C2H2 928 950 1.07e0 SMART
ZnF_C2H2 1003 1025 1.43e-1 SMART
low complexity region 1199 1212 N/A INTRINSIC
ZnF_C2H2 1226 1252 5.4e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112695
SMART Domains Protein: ENSMUSP00000108315
Gene: ENSMUSG00000049606

DomainStartEndE-ValueType
low complexity region 12 25 N/A INTRINSIC
Blast:ZnF_C2H2 39 65 2e-14 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000112696
AA Change: I1000V

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: I1000V

DomainStartEndE-ValueType
ZnF_C2H2 411 433 1.89e-1 SMART
ZnF_C2H2 449 471 6.52e-5 SMART
ZnF_C2H2 497 519 1.99e0 SMART
ZnF_C2H2 526 549 6.4e0 SMART
ZnF_C2H2 587 610 3.72e0 SMART
low complexity region 668 676 N/A INTRINSIC
low complexity region 767 783 N/A INTRINSIC
low complexity region 802 819 N/A INTRINSIC
ZnF_C2H2 959 981 1.07e0 SMART
ZnF_C2H2 1034 1056 1.43e-1 SMART
low complexity region 1230 1243 N/A INTRINSIC
ZnF_C2H2 1257 1283 5.4e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112698
AA Change: I969V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: I969V

DomainStartEndE-ValueType
ZnF_C2H2 411 433 1.89e-1 SMART
ZnF_C2H2 449 471 6.52e-5 SMART
ZnF_C2H2 497 519 1.99e0 SMART
ZnF_C2H2 526 549 6.4e0 SMART
ZnF_C2H2 587 610 3.72e0 SMART
low complexity region 668 676 N/A INTRINSIC
low complexity region 771 788 N/A INTRINSIC
ZnF_C2H2 928 950 1.07e0 SMART
ZnF_C2H2 1003 1025 1.43e-1 SMART
low complexity region 1199 1212 N/A INTRINSIC
ZnF_C2H2 1226 1252 5.4e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122980
Predicted Effect probably benign
Transcript: ENSMUST00000124263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125895
Predicted Effect probably benign
Transcript: ENSMUST00000135108
Predicted Effect probably benign
Transcript: ENSMUST00000127434
SMART Domains Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606

DomainStartEndE-ValueType
ZnF_C2H2 411 433 1.89e-1 SMART
ZnF_C2H2 449 471 6.52e-5 SMART
ZnF_C2H2 497 519 1.99e0 SMART
ZnF_C2H2 526 549 6.4e0 SMART
ZnF_C2H2 587 610 3.72e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137285
Predicted Effect probably benign
Transcript: ENSMUST00000155495
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.2%
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 is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,035,450 (GRCm39) S316T probably damaging Het
Alox8 C T 11: 69,077,114 (GRCm39) V460I probably damaging Het
Aoc1l2 T C 6: 48,908,385 (GRCm39) S462P probably damaging Het
Arvcf G A 16: 18,218,482 (GRCm39) A491T probably damaging Het
Asnsd1 A G 1: 53,386,386 (GRCm39) S414P possibly damaging Het
Btbd7 A G 12: 102,756,968 (GRCm39) L706P probably damaging Het
Camk2d T A 3: 126,574,105 (GRCm39) W171R probably damaging Het
Casc3 T A 11: 98,712,332 (GRCm39) S124T probably benign Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc182 T C 11: 88,184,962 (GRCm39) V14A possibly damaging Het
Ccdc80 A T 16: 44,943,275 (GRCm39) Q795L probably damaging Het
Ccdc88a T G 11: 29,453,480 (GRCm39) S1614R probably damaging Het
Cemip2 G A 19: 21,822,114 (GRCm39) A1170T possibly damaging Het
Clcn6 A G 4: 148,095,109 (GRCm39) probably null Het
Cubn A G 2: 13,313,360 (GRCm39) V3070A probably benign Het
Dst G A 1: 34,205,372 (GRCm39) V1025I possibly damaging Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Elk3 T A 10: 93,101,539 (GRCm39) I71F probably damaging Het
Flt3 A T 5: 147,306,300 (GRCm39) I276N probably damaging Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Golph3l T A 3: 95,524,668 (GRCm39) D306E probably benign Het
Grk2 T A 19: 4,340,698 (GRCm39) I254F probably damaging Het
Hgf C T 5: 16,781,919 (GRCm39) T214I probably benign Het
Hoxc5 C A 15: 102,922,814 (GRCm39) probably null Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Ipp A G 4: 116,372,565 (GRCm39) Y198C probably benign Het
Ism1 T A 2: 139,582,047 (GRCm39) probably null Het
Klhl42 A G 6: 146,993,394 (GRCm39) Y122C possibly damaging Het
Klk1b21 A T 7: 43,755,418 (GRCm39) K206* probably null Het
Lcn11 A G 2: 25,668,097 (GRCm39) K85R probably benign Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Matn4 A G 2: 164,242,573 (GRCm39) V175A probably damaging Het
Myh2 A T 11: 67,082,545 (GRCm39) N1372Y probably damaging Het
Ncl A G 1: 86,284,677 (GRCm39) probably null Het
Nudt2 A G 4: 41,480,255 (GRCm39) D46G probably damaging Het
Obscn C T 11: 58,958,000 (GRCm39) D3567N probably benign Het
Or1j17 G C 2: 36,578,487 (GRCm39) V158L probably benign Het
Or2z9 G T 8: 72,853,930 (GRCm39) V109F possibly damaging Het
Or4a72 A T 2: 89,405,305 (GRCm39) M255K possibly damaging Het
Pamr1 T A 2: 102,464,880 (GRCm39) M343K probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Ppm1h T A 10: 122,714,433 (GRCm39) L324* probably null Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Prkdc G A 16: 15,494,873 (GRCm39) V748I probably benign Het
Prss47 A G 13: 65,199,591 (GRCm39) V96A probably benign Het
Rsbn1 C T 3: 103,821,789 (GRCm39) T8I probably benign Het
Rsf1 GGCG GGCGACGGCGGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpinb3d A G 1: 107,006,182 (GRCm39) V302A probably benign Het
Sfrp4 A T 13: 19,816,496 (GRCm39) I177F probably benign Het
Sh3bp2 A G 5: 34,701,569 (GRCm39) probably benign Het
Slc7a12 A G 3: 14,562,393 (GRCm39) T257A probably damaging Het
Spata31e5 A T 1: 28,817,234 (GRCm39) V266D probably damaging Het
Specc1l T C 10: 75,103,425 (GRCm39) probably null Het
Stard9 A G 2: 120,534,716 (GRCm39) T3658A probably benign Het
Styxl2 A T 1: 165,928,392 (GRCm39) W407R probably benign Het
Tmem30c T C 16: 57,101,725 (GRCm39) T68A probably damaging Het
Tnr A G 1: 159,679,592 (GRCm39) I189V probably benign Het
Trrap A G 5: 144,790,298 (GRCm39) N3586S possibly damaging Het
Usp14 T C 18: 10,024,632 (GRCm39) T22A probably damaging Het
Vmn1r68 A G 7: 10,261,918 (GRCm39) L60P probably damaging Het
Vmn2r108 G A 17: 20,691,252 (GRCm39) H424Y probably benign Het
Wdr81 C A 11: 75,336,788 (GRCm39) E1534* probably null Het
Zc3h13 A G 14: 75,567,635 (GRCm39) E976G probably damaging Het
Zfp128 T C 7: 12,623,956 (GRCm39) L108P possibly damaging Het
Other mutations in Zfp644
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Zfp644 APN 5 106,786,503 (GRCm39) critical splice acceptor site probably null
IGL01654:Zfp644 APN 5 106,783,796 (GRCm39) missense probably damaging 1.00
IGL01967:Zfp644 APN 5 106,786,109 (GRCm39) missense probably damaging 1.00
IGL02132:Zfp644 APN 5 106,783,760 (GRCm39) missense probably benign 0.22
IGL02164:Zfp644 APN 5 106,785,965 (GRCm39) missense probably benign 0.01
IGL02303:Zfp644 APN 5 106,785,180 (GRCm39) missense probably damaging 1.00
IGL03091:Zfp644 APN 5 106,784,724 (GRCm39) missense probably damaging 1.00
IGL03102:Zfp644 APN 5 106,785,134 (GRCm39) missense probably damaging 0.99
IGL03298:Zfp644 APN 5 106,782,967 (GRCm39) missense possibly damaging 0.93
PIT4466001:Zfp644 UTSW 5 106,784,343 (GRCm39) missense probably damaging 0.99
R0012:Zfp644 UTSW 5 106,782,909 (GRCm39) missense probably benign 0.11
R0012:Zfp644 UTSW 5 106,782,909 (GRCm39) missense probably benign 0.11
R0038:Zfp644 UTSW 5 106,782,909 (GRCm39) missense probably benign 0.11
R0038:Zfp644 UTSW 5 106,782,909 (GRCm39) missense probably benign 0.11
R0058:Zfp644 UTSW 5 106,784,869 (GRCm39) missense possibly damaging 0.69
R0058:Zfp644 UTSW 5 106,784,869 (GRCm39) missense possibly damaging 0.69
R0178:Zfp644 UTSW 5 106,784,771 (GRCm39) missense probably damaging 1.00
R0497:Zfp644 UTSW 5 106,786,199 (GRCm39) missense probably damaging 0.99
R1302:Zfp644 UTSW 5 106,782,765 (GRCm39) missense probably damaging 1.00
R1337:Zfp644 UTSW 5 106,785,420 (GRCm39) missense probably damaging 0.99
R1400:Zfp644 UTSW 5 106,785,336 (GRCm39) splice site probably null
R1597:Zfp644 UTSW 5 106,786,199 (GRCm39) missense probably damaging 0.99
R1911:Zfp644 UTSW 5 106,783,137 (GRCm39) missense possibly damaging 0.95
R2196:Zfp644 UTSW 5 106,786,469 (GRCm39) start codon destroyed probably null 0.02
R2256:Zfp644 UTSW 5 106,783,711 (GRCm39) missense probably damaging 1.00
R2311:Zfp644 UTSW 5 106,782,822 (GRCm39) missense probably benign 0.21
R2420:Zfp644 UTSW 5 106,785,110 (GRCm39) missense possibly damaging 0.95
R2421:Zfp644 UTSW 5 106,785,110 (GRCm39) missense possibly damaging 0.95
R2422:Zfp644 UTSW 5 106,785,110 (GRCm39) missense possibly damaging 0.95
R3752:Zfp644 UTSW 5 106,784,249 (GRCm39) missense probably benign
R4207:Zfp644 UTSW 5 106,766,142 (GRCm39) missense probably damaging 1.00
R4285:Zfp644 UTSW 5 106,782,984 (GRCm39) missense probably damaging 1.00
R4874:Zfp644 UTSW 5 106,783,279 (GRCm39) missense probably damaging 1.00
R4961:Zfp644 UTSW 5 106,766,081 (GRCm39) utr 3 prime probably benign
R4984:Zfp644 UTSW 5 106,784,783 (GRCm39) missense possibly damaging 0.96
R5007:Zfp644 UTSW 5 106,783,867 (GRCm39) missense probably benign
R5358:Zfp644 UTSW 5 106,783,541 (GRCm39) missense probably damaging 1.00
R5382:Zfp644 UTSW 5 106,782,735 (GRCm39) missense possibly damaging 0.88
R5416:Zfp644 UTSW 5 106,766,294 (GRCm39) splice site silent
R5641:Zfp644 UTSW 5 106,767,461 (GRCm39) missense probably damaging 1.00
R5656:Zfp644 UTSW 5 106,785,848 (GRCm39) missense probably benign 0.12
R5732:Zfp644 UTSW 5 106,784,989 (GRCm39) missense probably damaging 1.00
R6039:Zfp644 UTSW 5 106,783,291 (GRCm39) missense possibly damaging 0.93
R6039:Zfp644 UTSW 5 106,783,291 (GRCm39) missense possibly damaging 0.93
R6306:Zfp644 UTSW 5 106,785,990 (GRCm39) missense probably damaging 0.99
R6317:Zfp644 UTSW 5 106,783,711 (GRCm39) missense probably damaging 1.00
R6354:Zfp644 UTSW 5 106,784,619 (GRCm39) missense probably benign 0.23
R6886:Zfp644 UTSW 5 106,785,777 (GRCm39) missense possibly damaging 0.53
R7223:Zfp644 UTSW 5 106,785,448 (GRCm39) nonsense probably null
R7326:Zfp644 UTSW 5 106,786,143 (GRCm39) missense probably benign 0.12
R7450:Zfp644 UTSW 5 106,786,392 (GRCm39) missense probably benign 0.00
R8095:Zfp644 UTSW 5 106,766,280 (GRCm39) missense possibly damaging 0.93
R8710:Zfp644 UTSW 5 106,782,997 (GRCm39) missense probably damaging 0.99
R8822:Zfp644 UTSW 5 106,783,087 (GRCm39) missense possibly damaging 0.93
R8936:Zfp644 UTSW 5 106,783,503 (GRCm39) missense probably damaging 1.00
R8975:Zfp644 UTSW 5 106,785,467 (GRCm39) missense probably benign
R9056:Zfp644 UTSW 5 106,783,944 (GRCm39) nonsense probably null
R9192:Zfp644 UTSW 5 106,785,829 (GRCm39) missense probably benign
R9250:Zfp644 UTSW 5 106,784,699 (GRCm39) missense probably damaging 0.99
R9287:Zfp644 UTSW 5 106,785,774 (GRCm39) missense possibly damaging 0.94
R9313:Zfp644 UTSW 5 106,784,324 (GRCm39) missense probably benign 0.25
R9600:Zfp644 UTSW 5 106,783,909 (GRCm39) missense probably benign
R9766:Zfp644 UTSW 5 106,784,691 (GRCm39) missense probably damaging 1.00
R9789:Zfp644 UTSW 5 106,786,131 (GRCm39) missense possibly damaging 0.91
X0011:Zfp644 UTSW 5 106,766,293 (GRCm39) missense probably damaging 1.00
Z1176:Zfp644 UTSW 5 106,783,610 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GTTCGGAAGTAGTTTCAGACTTCTC -3'
(R):5'- AACCCAGAAACGCCTTTGTC -3'

Sequencing Primer
(F):5'- TTAGGCCCCAACTATCTCC -3'
(R):5'- ACGCCTTTGTCAAAGCATAGTTCTG -3'
Posted On 2014-08-25