Incidental Mutation 'R6886:Zfp644'
ID 536946
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 044980-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R6886 (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 106785777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 257 (T257A)
Ref Sequence ENSEMBL: ENSMUSP00000114698 (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: T257A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: T257A

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: T257A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: T257A

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: T257A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: T257A

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 possibly damaging
Transcript: ENSMUST00000127434
AA Change: T257A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: T257A

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: ENSMUST00000135108
Predicted Effect possibly damaging
Transcript: ENSMUST00000137285
AA Change: T257A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000155495
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,518,706 (GRCm39) M44K probably benign Het
Bad T C 19: 6,928,702 (GRCm39) probably benign Het
Bbs12 A G 3: 37,373,390 (GRCm39) D61G probably damaging Het
Bcr C T 10: 74,989,769 (GRCm39) R722C probably damaging Het
Carf C A 1: 60,175,413 (GRCm39) probably null Het
Ccdc181 A G 1: 164,107,665 (GRCm39) E116G probably damaging Het
Celsr1 A G 15: 85,915,855 (GRCm39) V706A probably benign Het
Col9a1 T A 1: 24,224,426 (GRCm39) S203T unknown Het
Ctsl T C 13: 64,512,961 (GRCm39) probably null Het
Exosc7 A T 9: 122,965,023 (GRCm39) E277D probably benign Het
Fam20b A T 1: 156,518,081 (GRCm39) W238R probably damaging Het
Fanci A T 7: 79,070,090 (GRCm39) H430L possibly damaging Het
Fstl4 A G 11: 53,077,277 (GRCm39) D678G probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gm11569 T A 11: 99,689,247 (GRCm39) probably benign Het
Igfn1 G A 1: 135,901,198 (GRCm39) R306W probably damaging Het
Il6 C T 5: 30,223,201 (GRCm39) probably benign Het
Khdc1c T C 1: 21,439,749 (GRCm39) L100P possibly damaging Het
Kif18a G A 2: 109,127,008 (GRCm39) R314H probably damaging Het
Kif26b A C 1: 178,701,703 (GRCm39) K694T probably damaging Het
Kndc1 A G 7: 139,493,485 (GRCm39) T484A probably benign Het
Lonrf1 T C 8: 36,696,191 (GRCm39) probably null Het
Man1a2 C T 3: 100,563,387 (GRCm39) G169D probably benign Het
Med6 G T 12: 81,638,159 (GRCm39) D17E probably damaging Het
Neb T C 2: 52,110,236 (GRCm39) K204R probably damaging Het
Nhlrc1 T A 13: 47,167,252 (GRCm39) N335I possibly damaging Het
Nlrp12 T C 7: 3,289,313 (GRCm39) M400V probably benign Het
Or7e173 G T 9: 19,938,428 (GRCm39) H269N probably benign Het
Or8k22 A T 2: 86,163,408 (GRCm39) C97* probably null Het
Pkhd1 C T 1: 20,417,504 (GRCm39) S2549N probably benign Het
Pramel26 A G 4: 143,539,332 (GRCm39) F54L probably benign Het
Rab4b A C 7: 26,872,381 (GRCm39) L145R probably damaging Het
Rad50 T C 11: 53,577,011 (GRCm39) I526V probably benign Het
Rel T C 11: 23,694,304 (GRCm39) H309R probably benign Het
Rnf2 G T 1: 151,349,017 (GRCm39) N34K possibly damaging Het
Serpina3m G T 12: 104,355,386 (GRCm39) V18F possibly damaging Het
Serpinb9c T C 13: 33,334,310 (GRCm39) K244R probably benign Het
Setbp1 T A 18: 78,900,715 (GRCm39) Y984F probably damaging Het
Slc12a5 T A 2: 164,824,825 (GRCm39) M410K probably benign Het
Smarca4 C T 9: 21,570,127 (GRCm39) A710V probably damaging Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Ssrp1 T A 2: 84,870,280 (GRCm39) D101E probably benign Het
Tax1bp1 A T 6: 52,710,208 (GRCm39) E162D probably benign Het
Tenm4 T A 7: 96,446,599 (GRCm39) M823K possibly damaging Het
Tesk1 A G 4: 43,443,592 (GRCm39) D53G possibly damaging Het
Tnrc6a T A 7: 122,786,668 (GRCm39) S1577T probably benign Het
Tpr A G 1: 150,299,716 (GRCm39) I1270V probably benign Het
Trp53bp2 T C 1: 182,256,608 (GRCm39) probably null Het
Ube4a A T 9: 44,860,141 (GRCm39) I307N probably damaging Het
Unc13b A G 4: 43,170,156 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,166,927 (GRCm39) K735E probably damaging Het
Vmn2r54 A G 7: 12,366,080 (GRCm39) F285L probably benign Het
Vmn2r81 T G 10: 79,103,988 (GRCm39) S204A possibly damaging Het
Washc1 A G 17: 66,426,061 (GRCm39) D453G probably damaging Het
Zfp329 T A 7: 12,544,025 (GRCm39) I500L probably benign Het
Zfp516 A G 18: 82,975,125 (GRCm39) D441G 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
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
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'- CTGAGTCACTGTAGCAGTCCTC -3'
(R):5'- GCAAGTCAACACCAAGTTCTG -3'

Sequencing Primer
(F):5'- CACTGTAGCAGTCCTCTGTGTAG -3'
(R):5'- AAAGTACCTACCTCTGCTTTAGTTGG -3'
Posted On 2018-10-18