Incidental Mutation 'R8317:Zfp493'
ID641768
Institutional Source Beutler Lab
Gene Symbol Zfp493
Ensembl Gene ENSMUSG00000090659
Gene Namezinc finger protein 493
Synonyms2900054J07Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #R8317 (G1)
Quality Score225.009
Status Not validated
Chromosome13
Chromosomal Location67779693-67792512 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 67783839 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 19 (R19H)
Ref Sequence ENSEMBL: ENSMUSP00000132282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164936] [ENSMUST00000181319]
Predicted Effect probably benign
Transcript: ENSMUST00000164936
AA Change: R19H

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132282
Gene: ENSMUSG00000090659
AA Change: R19H

DomainStartEndE-ValueType
KRAB 5 65 3.47e-32 SMART
ZnF_C2H2 81 103 2.27e-4 SMART
ZnF_C2H2 109 131 3.95e-4 SMART
ZnF_C2H2 137 159 7.37e-4 SMART
ZnF_C2H2 165 187 6.32e-3 SMART
ZnF_C2H2 193 215 2.99e-4 SMART
ZnF_C2H2 221 243 9.73e-4 SMART
ZnF_C2H2 249 271 2.57e-3 SMART
ZnF_C2H2 277 299 1.53e-1 SMART
ZnF_C2H2 305 327 1.1e-2 SMART
ZnF_C2H2 333 355 5.42e-2 SMART
ZnF_C2H2 361 383 1.26e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181319
AA Change: R19H

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137936
Gene: ENSMUSG00000090659
AA Change: R19H

DomainStartEndE-ValueType
KRAB 5 65 3.47e-32 SMART
low complexity region 80 88 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik A C 5: 98,737,600 H122P probably benign Het
1700029P11Rik A G 15: 81,980,777 Y73C probably damaging Het
Adgrv1 C T 13: 81,575,117 V621M probably damaging Het
Adipor1 C T 1: 134,428,167 R235W probably benign Het
Agbl1 T A 7: 76,422,181 M594K unknown Het
Als2cr12 T C 1: 58,676,548 K170E possibly damaging Het
Ang2 A G 14: 51,195,892 V11A probably benign Het
BC027072 A C 17: 71,749,202 L1160R probably benign Het
Ccl25 A G 8: 4,354,138 N80S probably benign Het
Cd19 A T 7: 126,413,443 C259* probably null Het
Cd209b A T 8: 3,922,018 I177N probably damaging Het
Cdc20 C A 4: 118,437,126 probably benign Het
Cdh23 A T 10: 60,311,258 probably null Het
Cdh23 G A 10: 60,436,789 R536W probably damaging Het
Chd6 T C 2: 160,990,321 D977G probably damaging Het
Csl T G 10: 99,759,038 H55P probably damaging Het
Cstf2t G A 19: 31,084,248 A395T probably benign Het
Dhx58 A T 11: 100,703,562 I101N probably damaging Het
Dlg5 A C 14: 24,191,230 S200A probably damaging Het
Epb41 C A 4: 131,957,650 G86V Het
Fat4 T C 3: 38,958,510 V2318A possibly damaging Het
Fbxo32 A T 15: 58,205,230 F119I probably damaging Het
Fndc1 A T 17: 7,800,888 L153* probably null Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,075,905 probably benign Het
Gm4559 CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT 7: 142,273,816 probably benign Het
Gpr63 A T 4: 25,008,223 T316S probably damaging Het
Ick T A 9: 78,153,651 V193E probably damaging Het
Il16 T C 7: 83,655,330 T665A probably benign Het
Lama5 T C 2: 180,206,991 N272S probably damaging Het
Map3k1 T C 13: 111,758,162 Y660C probably damaging Het
Mbd3l1 C A 9: 18,484,821 L81I probably benign Het
Morc3 C A 16: 93,862,529 Q442K probably benign Het
Muc16 G A 9: 18,658,043 T1060I unknown Het
Myh11 T A 16: 14,208,077 D1343V Het
Myh15 C A 16: 49,120,018 T777N probably damaging Het
Nbn T G 4: 15,970,893 L292W probably damaging Het
Nebl A G 2: 17,350,757 M195T possibly damaging Het
Net1 T C 13: 3,907,856 K66E possibly damaging Het
Nod1 T C 6: 54,943,440 Y631C probably damaging Het
Nxf1 A G 19: 8,771,043 H12R probably benign Het
Onecut3 T C 10: 80,495,327 L107P unknown Het
Opa1 T G 16: 29,614,144 I512S probably damaging Het
P3h3 C T 6: 124,855,153 G257R probably damaging Het
Pappa2 A G 1: 158,764,960 C1616R probably damaging Het
Parn T G 16: 13,541,100 K593Q probably damaging Het
Polr3g T C 13: 81,678,183 K173R unknown Het
Prcp A G 7: 92,875,390 T18A probably benign Het
Sash1 G A 10: 8,729,386 T1080M possibly damaging Het
Skap2 A G 6: 51,907,885 probably null Het
Srebf1 C A 11: 60,200,657 S1014I possibly damaging Het
Stk32b C T 5: 37,454,975 E356K probably damaging Het
Tex37 C A 6: 70,913,292 W172L possibly damaging Het
Tjp3 T A 10: 81,280,490 T257S probably benign Het
Trf A G 9: 103,217,516 Y448H probably damaging Het
Tsnaxip1 G C 8: 105,827,806 R7P probably benign Het
Vmn1r208 G C 13: 22,772,777 I183M probably benign Het
Vmn2r67 T A 7: 85,136,626 M724L probably benign Het
Wdhd1 A T 14: 47,263,537 H469Q probably damaging Het
Zbtb7a G C 10: 81,144,950 G326A probably benign Het
Zfp932 A T 5: 110,009,056 K207* probably null Het
Other mutations in Zfp493
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Zfp493 APN 13 67786802 missense probably benign 0.06
IGL02367:Zfp493 APN 13 67786970 nonsense probably null
R0647:Zfp493 UTSW 13 67783875 missense possibly damaging 0.92
R1478:Zfp493 UTSW 13 67786561 missense probably damaging 1.00
R1617:Zfp493 UTSW 13 67783880 missense probably damaging 1.00
R1990:Zfp493 UTSW 13 67786269 missense probably damaging 1.00
R4007:Zfp493 UTSW 13 67783919 splice site probably benign
R4700:Zfp493 UTSW 13 67786617 missense probably damaging 1.00
R4782:Zfp493 UTSW 13 67786203 missense probably null 0.97
R5376:Zfp493 UTSW 13 67786318 missense possibly damaging 0.81
R5395:Zfp493 UTSW 13 67783846 nonsense probably null
R5909:Zfp493 UTSW 13 67786598 nonsense probably null
R6066:Zfp493 UTSW 13 67786950 missense possibly damaging 0.90
R6419:Zfp493 UTSW 13 67786407 missense probably benign 0.16
R6561:Zfp493 UTSW 13 67786219 missense possibly damaging 0.92
R6625:Zfp493 UTSW 13 67786395 nonsense probably null
R6714:Zfp493 UTSW 13 67786380 missense probably benign 0.06
R7678:Zfp493 UTSW 13 67779695 start gained probably benign
R7782:Zfp493 UTSW 13 67787004 missense probably benign 0.31
R8262:Zfp493 UTSW 13 67786857 missense probably damaging 1.00
X0021:Zfp493 UTSW 13 67786378 missense probably benign
Predicted Primers
Posted On2020-07-28