Incidental Mutation 'IGL01346:Zfp595'
ID 75064
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp595
Ensembl Gene ENSMUSG00000057842
Gene Name zinc finger protein 595
Synonyms A230042K10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01346
Quality Score
Status
Chromosome 13
Chromosomal Location 67461062-67480634 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 67464749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 505 (K505*)
Ref Sequence ENSEMBL: ENSMUSP00000127010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044819] [ENSMUST00000109735] [ENSMUST00000168892] [ENSMUST00000169142] [ENSMUST00000171466]
AlphaFold Q8BIN6
Predicted Effect probably benign
Transcript: ENSMUST00000044819
SMART Domains Protein: ENSMUSP00000049225
Gene: ENSMUSG00000098781

DomainStartEndE-ValueType
KRAB 5 65 1.15e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109735
AA Change: K508*
SMART Domains Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: K508*

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 null
Transcript: ENSMUST00000168892
AA Change: K508*
SMART Domains Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: K508*

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 null
Transcript: ENSMUST00000169142
AA Change: K508*
SMART Domains Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: K508*

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 null
Transcript: ENSMUST00000171466
AA Change: K505*
SMART Domains Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: K505*

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
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Other mutations in Zfp595
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01572:Zfp595 APN 13 67,465,465 (GRCm39) missense possibly damaging 0.58
IGL01836:Zfp595 APN 13 67,480,525 (GRCm39) utr 5 prime probably benign
IGL01924:Zfp595 APN 13 67,465,847 (GRCm39) missense possibly damaging 0.93
IGL02171:Zfp595 APN 13 67,464,719 (GRCm39) missense possibly damaging 0.61
IGL02376:Zfp595 APN 13 67,464,514 (GRCm39) missense possibly damaging 0.80
IGL02651:Zfp595 APN 13 67,469,017 (GRCm39) missense probably benign 0.00
PIT4581001:Zfp595 UTSW 13 67,465,949 (GRCm39) missense probably benign 0.00
R0071:Zfp595 UTSW 13 67,464,917 (GRCm39) missense possibly damaging 0.55
R0111:Zfp595 UTSW 13 67,468,984 (GRCm39) missense possibly damaging 0.90
R0319:Zfp595 UTSW 13 67,464,577 (GRCm39) missense possibly damaging 0.92
R0491:Zfp595 UTSW 13 67,465,369 (GRCm39) missense probably damaging 0.99
R1162:Zfp595 UTSW 13 67,465,259 (GRCm39) missense probably damaging 1.00
R1559:Zfp595 UTSW 13 67,465,127 (GRCm39) missense possibly damaging 0.93
R3118:Zfp595 UTSW 13 67,468,963 (GRCm39) missense probably benign 0.00
R3901:Zfp595 UTSW 13 67,465,379 (GRCm39) missense probably benign 0.13
R4738:Zfp595 UTSW 13 67,465,229 (GRCm39) missense probably benign 0.11
R4866:Zfp595 UTSW 13 67,465,760 (GRCm39) missense probably damaging 1.00
R4993:Zfp595 UTSW 13 67,464,465 (GRCm39) missense probably damaging 0.99
R5987:Zfp595 UTSW 13 67,465,688 (GRCm39) missense probably damaging 1.00
R6684:Zfp595 UTSW 13 67,468,341 (GRCm39) missense probably damaging 1.00
R7099:Zfp595 UTSW 13 67,465,711 (GRCm39) missense probably damaging 1.00
R7593:Zfp595 UTSW 13 67,464,823 (GRCm39) missense probably benign 0.00
R7657:Zfp595 UTSW 13 67,465,817 (GRCm39) missense probably damaging 1.00
R7828:Zfp595 UTSW 13 67,465,769 (GRCm39) missense probably damaging 1.00
R8295:Zfp595 UTSW 13 67,464,764 (GRCm39) missense possibly damaging 0.64
R8544:Zfp595 UTSW 13 67,465,244 (GRCm39) missense probably damaging 1.00
R9029:Zfp595 UTSW 13 67,468,989 (GRCm39) missense probably benign 0.00
R9103:Zfp595 UTSW 13 67,464,676 (GRCm39) missense probably damaging 0.99
R9332:Zfp595 UTSW 13 67,465,463 (GRCm39) missense probably damaging 0.99
R9432:Zfp595 UTSW 13 67,465,407 (GRCm39) nonsense probably null
R9499:Zfp595 UTSW 13 67,465,067 (GRCm39) missense probably damaging 1.00
R9551:Zfp595 UTSW 13 67,465,067 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07