Incidental Mutation 'R9766:Zfp644'
ID 733266
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R9766 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 106764605-106844696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106784691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 619 (G619C)
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 damaging
Transcript: ENSMUST00000045466
AA Change: G619C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: G619C

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 damaging
Transcript: ENSMUST00000112696
AA Change: G619C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: G619C

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 damaging
Transcript: ENSMUST00000112698
AA Change: G619C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: G619C

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 probably damaging
Transcript: ENSMUST00000127434
AA Change: G619C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: G619C

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 probably benign
Transcript: ENSMUST00000137285
Predicted Effect probably benign
Transcript: ENSMUST00000155495
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.5%
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
3425401B19Rik A G 14: 32,385,788 (GRCm39) V59A probably benign Het
Aatk A T 11: 119,902,565 (GRCm39) H610Q probably benign Het
Acox1 G A 11: 116,071,867 (GRCm39) A187V probably damaging Het
Acsbg3 A G 17: 57,189,177 (GRCm39) Y195C probably benign Het
AI661453 C T 17: 47,757,570 (GRCm39) R76W probably damaging Het
Anapc1 C T 2: 128,500,221 (GRCm39) R808Q probably damaging Het
Ankrd26 T C 6: 118,500,067 (GRCm39) T1135A possibly damaging Het
Arhgap17 A G 7: 122,921,148 (GRCm39) V113A probably benign Het
Art3 T C 5: 92,562,138 (GRCm39) C379R unknown Het
Bltp3a T C 17: 28,105,799 (GRCm39) L775P probably damaging Het
Bmp5 A G 9: 75,800,982 (GRCm39) I371V probably damaging Het
Ccdc88b T A 19: 6,833,096 (GRCm39) E281V probably damaging Het
Ces1e A T 8: 93,946,031 (GRCm39) Y171N probably damaging Het
Cib3 A T 8: 72,961,034 (GRCm39) F68I possibly damaging Het
Crtac1 A T 19: 42,402,557 (GRCm39) L17Q possibly damaging Het
Crybg3 A T 16: 59,376,207 (GRCm39) S1682R probably benign Het
Ddx60 G A 8: 62,465,312 (GRCm39) G1323D probably damaging Het
Dock3 A C 9: 106,788,483 (GRCm39) D161E probably benign Het
Dpep3 A C 8: 106,705,369 (GRCm39) L127R probably damaging Het
Dus2 A G 8: 106,772,568 (GRCm39) D226G probably damaging Het
Ebna1bp2 T C 4: 118,480,821 (GRCm39) V184A possibly damaging Het
Edem1 T A 6: 108,823,648 (GRCm39) I348N probably damaging Het
Efcab8 A T 2: 153,656,362 (GRCm39) M599L unknown Het
Eif2ak4 A T 2: 118,261,313 (GRCm39) K618* probably null Het
Fbxw27 T C 9: 109,602,215 (GRCm39) K253E possibly damaging Het
Fgf5 A G 5: 98,423,113 (GRCm39) E166G possibly damaging Het
Flot1 G T 17: 36,141,555 (GRCm39) E321* probably null Het
Gm14443 T C 2: 175,012,248 (GRCm39) E66G probably benign Het
Gprc6a G A 10: 51,491,884 (GRCm39) P622S probably damaging Het
Gsta2 A T 9: 78,244,876 (GRCm39) Y79* probably null Het
Hecw2 A G 1: 53,904,287 (GRCm39) S1154P probably damaging Het
Hrob A T 11: 102,146,586 (GRCm39) Q287H possibly damaging Het
Kcnd2 T C 6: 21,216,367 (GRCm39) S24P probably benign Het
Knl1 A G 2: 118,900,381 (GRCm39) D694G probably damaging Het
L1td1 T C 4: 98,624,753 (GRCm39) I316T probably benign Het
Lrsam1 G T 2: 32,818,077 (GRCm39) Q660K probably benign Het
Muc16 T A 9: 18,548,153 (GRCm39) T6047S probably benign Het
Muc16 T A 9: 18,552,383 (GRCm39) T4637S probably benign Het
Myo5a T C 9: 75,078,914 (GRCm39) Y891H probably damaging Het
Nkd2 G T 13: 73,995,131 (GRCm39) D22E possibly damaging Het
Patl2 A T 2: 121,954,212 (GRCm39) V453E probably damaging Het
Pcnx2 A G 8: 126,488,313 (GRCm39) Y1744H probably damaging Het
Phf8-ps T G 17: 33,285,647 (GRCm39) N385T probably damaging Het
Pira2 T A 7: 3,845,517 (GRCm39) H289L possibly damaging Het
Pitpnm1 T C 19: 4,158,117 (GRCm39) I569T probably benign Het
Ppp4r4 T C 12: 103,562,735 (GRCm39) V568A probably benign Het
Ptf1a G A 2: 19,451,062 (GRCm39) G131S probably benign Het
Rasgrf2 G T 13: 92,160,188 (GRCm39) H396N probably damaging Het
Rfx1 C T 8: 84,814,376 (GRCm39) T315M probably damaging Het
Rnf207 C A 4: 152,400,402 (GRCm39) R148L probably damaging Het
Scn11a T G 9: 119,584,181 (GRCm39) N1478T probably damaging Het
Sdr39u1 C T 14: 56,135,194 (GRCm39) V250I probably benign Het
Serinc3 T C 2: 163,471,095 (GRCm39) T276A probably damaging Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Stambp C A 6: 83,534,469 (GRCm39) A273S probably benign Het
Taf2 T C 15: 54,910,881 (GRCm39) probably null Het
Tex26 A T 5: 149,386,642 (GRCm39) Y232F probably damaging Het
Tmem258 T C 19: 10,184,578 (GRCm39) L55P probably damaging Het
Trappc8 A G 18: 20,979,630 (GRCm39) I755T possibly damaging Het
Ubr4 T C 4: 139,194,595 (GRCm39) Y1163H unknown Het
Usp14 G A 18: 10,005,630 (GRCm39) T254I probably benign Het
Vcan A G 13: 89,839,247 (GRCm39) L2099P probably benign Het
Wdfy3 C T 5: 102,042,866 (GRCm39) V1962I possibly damaging Het
Zfp407 T C 18: 84,577,574 (GRCm39) T1180A 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
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
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'- ATTGGGCAATGCTTTTCCGG -3'
(R):5'- AGCAGTGAAGTGTCCTGTTG -3'

Sequencing Primer
(F):5'- CTATGTGGCCGCTTATGAAATTTTG -3'
(R):5'- CCTGTTGTGAGTTCAGAAGTAACTC -3'
Posted On 2022-11-14