Incidental Mutation 'R7450:Zfp644'
ID 577633
Institutional Source Beutler Lab
Gene Symbol Zfp644
Ensembl Gene ENSMUSG00000049606
Gene Name zinc finger protein 644
Synonyms BM-005, Zep-2, D5Ertd689e, 1110068L01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R7450 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 106764605-106844696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106786392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 52 (K52E)
Ref Sequence ENSEMBL: ENSMUSP00000038047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045466] [ENSMUST00000112695] [ENSMUST00000112696] [ENSMUST00000112698] [ENSMUST00000122980] [ENSMUST00000124263] [ENSMUST00000127434] [ENSMUST00000135108] [ENSMUST00000137285] [ENSMUST00000155495]
AlphaFold E9QA22
Predicted Effect probably benign
Transcript: ENSMUST00000045466
AA Change: K52E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: K52E

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 probably benign
Transcript: ENSMUST00000112696
AA Change: K52E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: K52E

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: K52E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: K52E

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 possibly damaging
Transcript: ENSMUST00000122980
AA Change: K52E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000124263
AA Change: K52E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000127434
AA Change: K52E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: K52E

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 possibly damaging
Transcript: ENSMUST00000135108
AA Change: K41E

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000137285
AA Change: K52E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000155495
AA Change: K27E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,331,977 (GRCm39) R746W possibly damaging Het
Abcc2 T C 19: 43,810,478 (GRCm39) L925P probably damaging Het
Abcc3 A T 11: 94,252,521 (GRCm39) H787Q probably damaging Het
Acly A T 11: 100,370,101 (GRCm39) V987E probably damaging Het
Afg2a T C 3: 37,510,934 (GRCm39) L697S probably damaging Het
Cacna1b A T 2: 24,525,147 (GRCm39) Y1676* probably null Het
Ccdc168 A G 1: 44,097,933 (GRCm39) V1055A probably benign Het
Ccdc175 T A 12: 72,202,447 (GRCm39) I283F possibly damaging Het
Cfap46 A T 7: 139,197,353 (GRCm39) F2173I unknown Het
Cln6 G A 9: 62,757,912 (GRCm39) E224K probably damaging Het
Cyp1a1 T A 9: 57,609,415 (GRCm39) L372Q probably damaging Het
Dnah8 T A 17: 31,006,165 (GRCm39) I3694N probably damaging Het
Dnal1 T C 12: 84,171,297 (GRCm39) Y31H probably benign Het
Eid3 T A 10: 82,702,737 (GRCm39) M66K probably benign Het
Epo T A 5: 137,481,497 (GRCm39) E143D probably damaging Het
Fbxo25 C A 8: 13,981,235 (GRCm39) N236K probably benign Het
Fsip2 A G 2: 82,782,024 (GRCm39) I266V probably benign Het
Galnt6 T C 15: 100,595,696 (GRCm39) Y444C probably damaging Het
Gna11 T C 10: 81,368,356 (GRCm39) Y160C Het
Hectd4 A T 5: 121,419,995 (GRCm39) T647S probably benign Het
Hgd T C 16: 37,444,686 (GRCm39) V316A possibly damaging Het
Idh3a T C 9: 54,503,367 (GRCm39) V142A probably damaging Het
Il3ra T A 14: 14,351,090 (GRCm38) I297N probably benign Het
Kcnj5 T G 9: 32,233,491 (GRCm39) I275L possibly damaging Het
Kdm7a A T 6: 39,120,185 (GRCm39) L928Q probably damaging Het
Kmo A G 1: 175,466,666 (GRCm39) I75V probably benign Het
Krtap1-3 C A 11: 99,481,697 (GRCm39) C150F unknown Het
Lingo3 C A 10: 80,670,671 (GRCm39) E420* probably null Het
Lrrc37a A G 11: 103,389,152 (GRCm39) V2091A probably benign Het
N4bp2 T A 5: 65,982,643 (GRCm39) Y1632* probably null Het
Nlrp1a C A 11: 70,998,484 (GRCm39) G905V probably damaging Het
Nlrp9c T A 7: 26,064,364 (GRCm39) E988V probably benign Het
Nol8 T G 13: 49,813,491 (GRCm39) H179Q probably benign Het
Notch3 G A 17: 32,360,365 (GRCm39) P1522L possibly damaging Het
Nup210l T C 3: 90,022,495 (GRCm39) probably null Het
Oas1b T A 5: 120,959,321 (GRCm39) Y234* probably null Het
Or10al7 T C 17: 38,366,000 (GRCm39) I152M probably benign Het
Or12d17 C A 17: 37,777,507 (GRCm39) Q137K probably benign Het
Or12e14 A C 2: 87,676,803 (GRCm39) K63Q probably damaging Het
Or13c9 T A 4: 52,936,113 (GRCm39) K57* probably null Het
Or6c1b A C 10: 129,273,298 (GRCm39) M206L probably benign Het
Pag1 T C 3: 9,764,599 (GRCm39) T185A probably damaging Het
Palmd A T 3: 116,721,292 (GRCm39) S100T probably damaging Het
Papln C A 12: 83,826,945 (GRCm39) A690E probably benign Het
Pcdhga7 C T 18: 37,849,079 (GRCm39) T362M probably benign Het
Pmpcb T A 5: 21,951,983 (GRCm39) V286E possibly damaging Het
Pon3 T C 6: 5,236,940 (GRCm39) I142M possibly damaging Het
Prdx6 A G 1: 161,069,386 (GRCm39) S194P probably benign Het
Rapgef2 T C 3: 79,080,366 (GRCm39) E112G probably benign Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rps6kb1 T A 11: 86,393,657 (GRCm39) E491V probably benign Het
Sema3d C T 5: 12,634,901 (GRCm39) Q656* probably null Het
Shisa6 A T 11: 66,108,832 (GRCm39) D348E probably benign Het
Slc16a7 G T 10: 125,063,920 (GRCm39) H472Q probably benign Het
Slc49a4 T C 16: 35,589,344 (GRCm39) I90V possibly damaging Het
Slc9a2 A G 1: 40,720,995 (GRCm39) probably benign Het
Smad4 A G 18: 73,810,924 (GRCm39) V20A probably damaging Het
Sstr3 G A 15: 78,424,043 (GRCm39) R235W probably damaging Het
Svep1 T A 4: 58,064,248 (GRCm39) H3245L possibly damaging Het
Tra2a G A 6: 49,227,919 (GRCm39) R70* probably null Het
Trav7-4 G T 14: 53,698,924 (GRCm39) V24L probably benign Het
Tsc2 C A 17: 24,819,005 (GRCm39) S1278I probably damaging Het
Ubtf A G 11: 102,197,475 (GRCm39) S726P unknown Het
Vmn2r42 A T 7: 8,187,220 (GRCm39) Y851N probably benign Het
Wwp1 A G 4: 19,640,016 (GRCm39) Y509H probably damaging Het
Xirp2 A C 2: 67,340,159 (GRCm39) Q800P possibly damaging Het
Zc3h7b T C 15: 81,667,281 (GRCm39) F609L probably benign Het
Zdhhc8 G T 16: 18,043,035 (GRCm39) H388Q probably benign Het
Zfp1004 A G 2: 150,035,046 (GRCm39) T456A probably benign Het
Zfp82 T G 7: 29,756,320 (GRCm39) E254A probably 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
R2021:Zfp644 UTSW 5 106,783,548 (GRCm39) missense possibly damaging 0.84
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
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'- AGTTTTCAGTAGGAACAGCAGG -3'
(R):5'- TGTAAGTGTATGCTGCCTTTCC -3'

Sequencing Primer
(F):5'- TTTCAGTAGGAACAGCAGGAGTGC -3'
(R):5'- ATGCTGCCTTTCCTTGGTAG -3'
Posted On 2019-10-07