Incidental Mutation 'R0497:Zfp644'
ID 40522
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 038693-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R0497 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 106764605-106844696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106786199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 116 (V116D)
Ref Sequence ENSEMBL: ENSMUSP00000118856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045466] [ENSMUST00000112695] [ENSMUST00000112696] [ENSMUST00000112698] [ENSMUST00000122980] [ENSMUST00000124263] [ENSMUST00000137285] [ENSMUST00000127434] [ENSMUST00000155495] [ENSMUST00000135108]
AlphaFold E9QA22
Predicted Effect probably benign
Transcript: ENSMUST00000045466
AA Change: V116D

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: V116D

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: V116D

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: V116D

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: V116D

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: V116D

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 damaging
Transcript: ENSMUST00000122980
AA Change: V116D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000124263
AA Change: V116D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125895
Predicted Effect possibly damaging
Transcript: ENSMUST00000137285
AA Change: V116D

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000127434
AA Change: V116D

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: V116D

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: ENSMUST00000155495
AA Change: V91D

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149128
Predicted Effect probably benign
Transcript: ENSMUST00000135108
Meta Mutation Damage Score 0.0857 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A C 11: 119,909,606 (GRCm39) V110G probably damaging Het
Adcy6 A C 15: 98,495,606 (GRCm39) probably null Het
Adm A G 7: 110,228,328 (GRCm39) T170A probably benign Het
Afap1l2 G T 19: 56,918,641 (GRCm39) N171K probably benign Het
Aph1b G T 9: 66,697,900 (GRCm39) S112* probably null Het
Arhgap23 A G 11: 97,342,989 (GRCm39) S424G probably damaging Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Braf G A 6: 39,617,483 (GRCm39) probably benign Het
Brd2 C T 17: 34,333,334 (GRCm39) R47Q probably damaging Het
C2cd5 A G 6: 142,957,819 (GRCm39) V972A probably benign Het
Car9 T A 4: 43,511,881 (GRCm39) L300H probably damaging Het
Chmp3 T C 6: 71,529,395 (GRCm39) S20P probably damaging Het
Chp1 A G 2: 119,402,263 (GRCm39) N79S possibly damaging Het
Cnot2 A T 10: 116,334,260 (GRCm39) I335N probably damaging Het
Cntnap4 T C 8: 113,296,783 (GRCm39) V6A probably benign Het
Ctcf T A 8: 106,401,672 (GRCm39) probably benign Het
Dennd1b A G 1: 138,967,724 (GRCm39) probably benign Het
Dnmbp A G 19: 43,845,079 (GRCm39) probably benign Het
Eef2 T C 10: 81,017,420 (GRCm39) F782L probably benign Het
Eogt T A 6: 97,112,194 (GRCm39) Y153F probably benign Het
Fam81a G T 9: 70,003,401 (GRCm39) Q237K possibly damaging Het
Fat2 T A 11: 55,174,228 (GRCm39) T2162S probably benign Het
Fcgbpl1 T A 7: 27,846,890 (GRCm39) C1158S probably damaging Het
Gas6 T C 8: 13,520,387 (GRCm39) I434V possibly damaging Het
Gm42417 A T 1: 36,571,248 (GRCm39) L77Q probably damaging Het
Grik3 A T 4: 125,517,303 (GRCm39) N49Y possibly damaging Het
Gucy2e A T 11: 69,114,985 (GRCm39) V974E probably damaging Het
Helz2 A G 2: 180,871,449 (GRCm39) V2721A probably damaging Het
Klhl6 GT G 16: 19,775,716 (GRCm39) 279 probably null Het
Krt73 A G 15: 101,710,665 (GRCm39) L23P probably damaging Het
L3mbtl3 T C 10: 26,158,772 (GRCm39) probably benign Het
Lrrc15 A T 16: 30,091,710 (GRCm39) V543E probably damaging Het
Med13 G A 11: 86,167,809 (GRCm39) probably benign Het
Med25 T C 7: 44,541,524 (GRCm39) D60G probably damaging Het
Mgam T A 6: 40,641,826 (GRCm39) Y560N probably damaging Het
Mlkl A G 8: 112,054,505 (GRCm39) Y211H probably damaging Het
Msl2 A G 9: 100,978,493 (GRCm39) N289S probably benign Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Omt2b T C 9: 78,235,513 (GRCm39) probably benign Het
Or4k37 A G 2: 111,159,175 (GRCm39) D137G probably benign Het
Pald1 A G 10: 61,177,094 (GRCm39) L652P probably damaging Het
Pard3b T A 1: 62,479,167 (GRCm39) probably null Het
Prdm15 G A 16: 97,595,534 (GRCm39) T1098I possibly damaging Het
Rock2 A G 12: 17,004,954 (GRCm39) T436A probably benign Het
Sema4c A T 1: 36,588,689 (GRCm39) D812E probably benign Het
Sla A T 15: 66,664,098 (GRCm39) I91K probably benign Het
Slc22a16 T G 10: 40,460,963 (GRCm39) M255R probably damaging Het
Slc49a4 A T 16: 35,555,974 (GRCm39) V162D probably benign Het
Smg8 C T 11: 86,976,910 (GRCm39) D224N possibly damaging Het
Spdef A T 17: 27,937,032 (GRCm39) D190E probably benign Het
Taok1 A G 11: 77,464,630 (GRCm39) I152T probably damaging Het
Tmem220 A G 11: 66,916,748 (GRCm39) D36G probably damaging Het
Tmem235 A C 11: 117,755,177 (GRCm39) I210L probably benign Het
Tmem266 C T 9: 55,288,168 (GRCm39) probably null Het
Tmprss12 A G 15: 100,178,920 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Usp38 T A 8: 81,711,053 (GRCm39) probably benign Het
Usp44 C T 10: 93,682,668 (GRCm39) P373S possibly damaging Het
Vmn1r209 G T 13: 22,990,118 (GRCm39) Q191K probably damaging Het
Vmn1r70 T C 7: 10,367,953 (GRCm39) I147T probably benign Het
Vmn2r107 T A 17: 20,595,394 (GRCm39) I649N probably damaging Het
Vmn2r12 A T 5: 109,239,755 (GRCm39) Y269* probably null Het
Zan C T 5: 137,410,938 (GRCm39) probably benign Het
Zfp616 G T 11: 73,974,306 (GRCm39) V192L probably benign Het
Zgrf1 T C 3: 127,378,299 (GRCm39) probably benign Het
Zhx3 A T 2: 160,621,914 (GRCm39) L751* probably null Het
Znfx1 T A 2: 166,897,331 (GRCm39) Q531L probably benign 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
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
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'- GAAATCACTGCTAACGCGCTGAC -3'
(R):5'- ACACCGACATTACTGGTGCTAAAGAAG -3'

Sequencing Primer
(F):5'- CTGCTTGACTTAGTAAAGTGCTC -3'
(R):5'- TACTGGTGCTAAAGAAGAACTCC -3'
Posted On 2013-05-23