Incidental Mutation 'R0491:Zfp595'
ID42494
Institutional Source Beutler Lab
Gene Symbol Zfp595
Ensembl Gene ENSMUSG00000057842
Gene Namezinc finger protein 595
Synonyms
MMRRC Submission 038689-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0491 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location67312998-67332570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 67317305 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 298 (G298E)
Ref Sequence ENSEMBL: ENSMUSP00000127010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044819] [ENSMUST00000109735] [ENSMUST00000168892] [ENSMUST00000169142] [ENSMUST00000171466]
Predicted Effect probably benign
Transcript: ENSMUST00000044819
SMART Domains Protein: ENSMUSP00000049225
Gene: ENSMUSG00000098781

DomainStartEndE-ValueType
KRAB 5 65 1.15e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109735
AA Change: G301E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: G301E

DomainStartEndE-ValueType
KRAB 5 65 1.57e-30 SMART
ZnF_C2H2 81 103 2.09e-3 SMART
ZnF_C2H2 109 131 6.57e-1 SMART
ZnF_C2H2 137 159 4.38e1 SMART
ZnF_C2H2 165 187 2.91e-2 SMART
ZnF_C2H2 193 215 2.36e-2 SMART
ZnF_C2H2 221 243 2.79e-4 SMART
PHD 222 283 4.64e0 SMART
ZnF_C2H2 249 271 4.47e-3 SMART
ZnF_C2H2 277 299 7.26e-3 SMART
ZnF_C2H2 305 327 4.54e-4 SMART
ZnF_C2H2 333 355 8.94e-3 SMART
PHD 334 395 1.2e1 SMART
ZnF_C2H2 361 383 2.02e-1 SMART
ZnF_C2H2 389 411 2.75e-3 SMART
ZnF_C2H2 417 439 1.26e-2 SMART
ZnF_C2H2 445 467 1.04e-3 SMART
PHD 446 507 1.12e0 SMART
ZnF_C2H2 473 495 4.79e-3 SMART
ZnF_C2H2 501 523 2.09e-3 SMART
ZnF_C2H2 529 551 2.95e-3 SMART
ZnF_C2H2 557 579 5.14e-3 SMART
ZnF_C2H2 585 607 2.95e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133177
Predicted Effect probably damaging
Transcript: ENSMUST00000168892
AA Change: G301E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: G301E

DomainStartEndE-ValueType
KRAB 5 65 1.57e-30 SMART
ZnF_C2H2 81 103 2.09e-3 SMART
ZnF_C2H2 109 131 6.57e-1 SMART
ZnF_C2H2 137 159 4.38e1 SMART
ZnF_C2H2 165 187 2.91e-2 SMART
ZnF_C2H2 193 215 2.36e-2 SMART
ZnF_C2H2 221 243 2.79e-4 SMART
PHD 222 283 4.64e0 SMART
ZnF_C2H2 249 271 4.47e-3 SMART
ZnF_C2H2 277 299 7.26e-3 SMART
ZnF_C2H2 305 327 4.54e-4 SMART
ZnF_C2H2 333 355 8.94e-3 SMART
PHD 334 395 1.2e1 SMART
ZnF_C2H2 361 383 2.02e-1 SMART
ZnF_C2H2 389 411 2.75e-3 SMART
ZnF_C2H2 417 439 1.26e-2 SMART
ZnF_C2H2 445 467 1.04e-3 SMART
PHD 446 507 1.12e0 SMART
ZnF_C2H2 473 495 4.79e-3 SMART
ZnF_C2H2 501 523 2.09e-3 SMART
ZnF_C2H2 529 551 2.95e-3 SMART
ZnF_C2H2 557 579 5.14e-3 SMART
ZnF_C2H2 585 607 2.95e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169142
AA Change: G301E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: G301E

DomainStartEndE-ValueType
KRAB 5 65 1.57e-30 SMART
ZnF_C2H2 81 103 2.09e-3 SMART
ZnF_C2H2 109 131 6.57e-1 SMART
ZnF_C2H2 137 159 4.38e1 SMART
ZnF_C2H2 165 187 2.91e-2 SMART
ZnF_C2H2 193 215 2.36e-2 SMART
ZnF_C2H2 221 243 2.79e-4 SMART
PHD 222 283 4.64e0 SMART
ZnF_C2H2 249 271 4.47e-3 SMART
ZnF_C2H2 277 299 7.26e-3 SMART
ZnF_C2H2 305 327 4.54e-4 SMART
ZnF_C2H2 333 355 8.94e-3 SMART
PHD 334 395 1.2e1 SMART
ZnF_C2H2 361 383 2.02e-1 SMART
ZnF_C2H2 389 411 2.75e-3 SMART
ZnF_C2H2 417 439 1.26e-2 SMART
ZnF_C2H2 445 467 1.04e-3 SMART
PHD 446 507 1.12e0 SMART
ZnF_C2H2 473 495 4.79e-3 SMART
ZnF_C2H2 501 523 2.09e-3 SMART
ZnF_C2H2 529 551 2.95e-3 SMART
ZnF_C2H2 557 579 5.14e-3 SMART
ZnF_C2H2 585 607 2.95e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170543
Predicted Effect probably damaging
Transcript: ENSMUST00000171466
AA Change: G298E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: G298E

DomainStartEndE-ValueType
KRAB 2 62 1.57e-30 SMART
ZnF_C2H2 78 100 2.09e-3 SMART
ZnF_C2H2 106 128 6.57e-1 SMART
ZnF_C2H2 134 156 4.38e1 SMART
ZnF_C2H2 162 184 2.91e-2 SMART
ZnF_C2H2 190 212 2.36e-2 SMART
ZnF_C2H2 218 240 2.79e-4 SMART
PHD 219 280 4.64e0 SMART
ZnF_C2H2 246 268 4.47e-3 SMART
ZnF_C2H2 274 296 7.26e-3 SMART
ZnF_C2H2 302 324 4.54e-4 SMART
ZnF_C2H2 330 352 8.94e-3 SMART
PHD 331 392 1.2e1 SMART
ZnF_C2H2 358 380 2.02e-1 SMART
ZnF_C2H2 386 408 2.75e-3 SMART
ZnF_C2H2 414 436 1.26e-2 SMART
ZnF_C2H2 442 464 1.04e-3 SMART
PHD 443 504 1.12e0 SMART
ZnF_C2H2 470 492 4.79e-3 SMART
ZnF_C2H2 498 520 2.09e-3 SMART
ZnF_C2H2 526 548 2.95e-3 SMART
ZnF_C2H2 554 576 5.14e-3 SMART
ZnF_C2H2 582 604 2.95e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,182,243 S356T probably damaging Het
Abca13 T C 11: 9,298,235 F2661L probably benign Het
Acadsb A G 7: 131,430,107 D224G probably benign Het
Acsm1 A G 7: 119,640,697 H288R probably damaging Het
Adamts2 A G 11: 50,776,630 D465G probably damaging Het
Akap9 A T 5: 3,972,851 probably benign Het
Alms1 A G 6: 85,702,600 T3240A probably damaging Het
Ap3d1 A G 10: 80,719,241 W417R probably damaging Het
Arfgef1 C A 1: 10,179,987 probably benign Het
Atf6 A G 1: 170,787,344 probably null Het
Cacna1s T A 1: 136,089,008 probably benign Het
Clcn1 T C 6: 42,310,581 F740L probably benign Het
Clec12a T A 6: 129,364,053 D265E probably benign Het
Clic3 T A 2: 25,457,785 probably benign Het
Cntnap3 T G 13: 64,762,045 T749P probably benign Het
Col11a2 T A 17: 34,042,212 D45E probably null Het
Crxos T A 7: 15,898,535 S89T probably benign Het
Cxcr1 G T 1: 74,192,309 P185T possibly damaging Het
Cyp20a1 T A 1: 60,371,327 N262K possibly damaging Het
Dpy19l2 T C 9: 24,696,028 R46G probably benign Het
Dpysl2 A T 14: 66,807,962 L454Q probably damaging Het
Dvl3 C T 16: 20,527,423 probably benign Het
Eppin T A 2: 164,589,412 E98V possibly damaging Het
Fancm A T 12: 65,106,061 H1097L probably benign Het
Fkbp4 A G 6: 128,435,742 I75T probably damaging Het
Fmn2 A G 1: 174,581,959 H586R unknown Het
Gm973 C T 1: 59,558,234 probably benign Het
Haus6 A C 4: 86,602,846 V185G possibly damaging Het
Herc2 T A 7: 56,122,366 C1098S possibly damaging Het
Hic1 C A 11: 75,166,310 L584F possibly damaging Het
Itgb1bp1 C A 12: 21,276,895 probably benign Het
Kbtbd2 G A 6: 56,780,389 R121* probably null Het
Lgr4 C T 2: 110,007,281 probably benign Het
Lrrc55 T C 2: 85,191,920 E309G probably damaging Het
Mertk T C 2: 128,793,107 probably null Het
Micu3 A G 8: 40,366,253 probably benign Het
Mmp11 G A 10: 75,926,758 A287V probably benign Het
Mpzl2 A G 9: 45,042,741 Y47C probably damaging Het
Muc5b A C 7: 141,862,015 R2899S probably benign Het
Myo1b A G 1: 51,755,698 Y1078H probably benign Het
Naip1 A T 13: 100,423,219 D1092E probably benign Het
Ncapd3 T G 9: 27,057,883 V611G probably damaging Het
Ntpcr C T 8: 125,737,354 R73* probably null Het
Olfr1225 A T 2: 89,170,360 V284E probably benign Het
Olfr1475 G A 19: 13,479,493 A235V probably damaging Het
Osbp2 A G 11: 3,714,709 F88S probably damaging Het
Pkn3 A T 2: 30,089,877 T711S probably damaging Het
Plekhm1 T C 11: 103,394,776 K278E probably benign Het
Ppp1r36 A G 12: 76,439,291 T408A probably benign Het
Prss41 T C 17: 23,842,503 T105A possibly damaging Het
Psme1 G T 14: 55,579,921 probably benign Het
Ptprq A T 10: 107,608,175 Y1523N probably damaging Het
Ric8b A G 10: 84,992,222 D470G probably damaging Het
Scarb1 A G 5: 125,298,731 probably benign Het
Slc25a54 G A 3: 109,102,796 A204T probably damaging Het
Spink10 T C 18: 62,659,965 C67R probably damaging Het
St5 T A 7: 109,557,204 Q113L probably benign Het
Tmtc1 A T 6: 148,412,640 probably null Het
Tprkb A G 6: 85,924,464 D28G probably benign Het
Ttll13 A G 7: 80,260,350 H747R probably benign Het
Usp24 A G 4: 106,402,105 S1608G probably benign Het
Utp20 A T 10: 88,760,912 F2115L probably damaging Het
Vmn1r200 A T 13: 22,395,191 I46L probably benign Het
Zdhhc8 A T 16: 18,228,390 M103K probably damaging Het
Zfp738 T G 13: 67,670,021 H617P possibly damaging Het
Zfp9 A T 6: 118,465,202 H166Q probably damaging Het
Zp3r C A 1: 130,618,334 D80Y probably damaging Het
Other mutations in Zfp595
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Zfp595 APN 13 67316685 nonsense probably null
IGL01572:Zfp595 APN 13 67317401 missense possibly damaging 0.58
IGL01836:Zfp595 APN 13 67332461 utr 5 prime probably benign
IGL01924:Zfp595 APN 13 67317783 missense possibly damaging 0.93
IGL02171:Zfp595 APN 13 67316655 missense possibly damaging 0.61
IGL02376:Zfp595 APN 13 67316450 missense possibly damaging 0.80
IGL02651:Zfp595 APN 13 67320953 missense probably benign 0.00
PIT4581001:Zfp595 UTSW 13 67317885 missense probably benign 0.00
R0071:Zfp595 UTSW 13 67316853 missense possibly damaging 0.55
R0111:Zfp595 UTSW 13 67320920 missense possibly damaging 0.90
R0319:Zfp595 UTSW 13 67316513 missense possibly damaging 0.92
R1162:Zfp595 UTSW 13 67317195 missense probably damaging 1.00
R1559:Zfp595 UTSW 13 67317063 missense possibly damaging 0.93
R3118:Zfp595 UTSW 13 67320899 missense probably benign 0.00
R3901:Zfp595 UTSW 13 67317315 missense probably benign 0.13
R4738:Zfp595 UTSW 13 67317165 missense probably benign 0.11
R4866:Zfp595 UTSW 13 67317696 missense probably damaging 1.00
R4993:Zfp595 UTSW 13 67316401 missense probably damaging 0.99
R5987:Zfp595 UTSW 13 67317624 missense probably damaging 1.00
R6684:Zfp595 UTSW 13 67320277 missense probably damaging 1.00
R7099:Zfp595 UTSW 13 67317647 missense probably damaging 1.00
R7593:Zfp595 UTSW 13 67316759 missense probably benign 0.00
R7657:Zfp595 UTSW 13 67317753 missense probably damaging 1.00
R7828:Zfp595 UTSW 13 67317705 missense probably damaging 1.00
Predicted Primers
Posted On2013-05-23