Incidental Mutation 'R0537:Zfp30'
ID49499
Institutional Source Beutler Lab
Gene Symbol Zfp30
Ensembl Gene ENSMUSG00000047473
Gene Namezinc finger protein 30
SynonymsZfp-30, 2610306P15Rik
MMRRC Submission 038729-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R0537 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location29783998-29794702 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 29792735 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 138 (E138V)
Ref Sequence ENSEMBL: ENSMUSP00000113426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032803] [ENSMUST00000122387]
Predicted Effect probably benign
Transcript: ENSMUST00000032803
AA Change: E219V

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032803
Gene: ENSMUSG00000047473
AA Change: E219V

DomainStartEndE-ValueType
KRAB 21 82 4.61e-37 SMART
ZnF_C2H2 187 209 5.9e-3 SMART
ZnF_C2H2 215 237 7.78e-3 SMART
ZnF_C2H2 243 265 5.06e-2 SMART
ZnF_C2H2 271 293 1.47e-3 SMART
ZnF_C2H2 299 319 3.72e0 SMART
ZnF_C2H2 327 349 3.24e0 SMART
ZnF_C2H2 355 377 3.89e-3 SMART
ZnF_C2H2 383 405 4.79e-3 SMART
ZnF_C2H2 411 433 1.36e-2 SMART
ZnF_C2H2 439 461 1.36e-2 SMART
ZnF_C2H2 467 489 7.26e-3 SMART
ZnF_C2H2 495 517 2.09e-3 SMART
ZnF_C2H2 523 545 6.78e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122387
AA Change: E138V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113426
Gene: ENSMUSG00000047473
AA Change: E138V

DomainStartEndE-ValueType
ZnF_C2H2 106 128 5.9e-3 SMART
ZnF_C2H2 134 156 7.78e-3 SMART
ZnF_C2H2 162 184 5.06e-2 SMART
ZnF_C2H2 190 212 1.47e-3 SMART
ZnF_C2H2 218 238 3.72e0 SMART
ZnF_C2H2 246 268 3.24e0 SMART
ZnF_C2H2 274 296 3.89e-3 SMART
ZnF_C2H2 302 324 4.79e-3 SMART
ZnF_C2H2 330 352 1.36e-2 SMART
ZnF_C2H2 358 380 1.36e-2 SMART
ZnF_C2H2 386 408 7.26e-3 SMART
ZnF_C2H2 414 436 2.09e-3 SMART
ZnF_C2H2 442 464 6.78e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126504
Meta Mutation Damage Score 0.5322 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A T 14: 36,096,700 K218N probably benign Het
Acot11 T C 4: 106,762,455 E156G probably benign Het
Arhgef28 A T 13: 97,957,716 N973K probably damaging Het
B4galt3 T C 1: 171,274,251 probably benign Het
Bmpr1a T C 14: 34,443,812 probably benign Het
Camkmt A T 17: 85,394,659 I184F probably benign Het
Ccdc33 T C 9: 58,117,454 Y163C probably damaging Het
Ccdc9 A G 7: 16,280,776 probably benign Het
Dars2 A T 1: 161,060,748 C201S possibly damaging Het
Dnajc1 A T 2: 18,307,956 S194R possibly damaging Het
Dock8 A G 19: 25,171,577 D1473G probably benign Het
Dpm2 T A 2: 32,572,949 probably null Het
Dsg4 T C 18: 20,458,571 S456P probably damaging Het
Gm10260 A T 13: 97,760,563 F9Y probably benign Het
Gys1 T C 7: 45,440,001 S195P probably damaging Het
Heatr6 G T 11: 83,779,464 E948* probably null Het
Itgal G A 7: 127,311,273 R518Q possibly damaging Het
Klhdc8b G C 9: 108,449,223 R158G possibly damaging Het
Klhl41 G A 2: 69,670,210 R5Q probably benign Het
Lrrtm4 A T 6: 80,022,120 T172S probably benign Het
Lypd1 A G 1: 125,912,867 probably benign Het
Mei1 T C 15: 82,091,361 F121S possibly damaging Het
Mtor C T 4: 148,538,360 R1966W probably damaging Het
Myh7 A G 14: 54,990,799 F247L possibly damaging Het
Nebl G T 2: 17,404,215 D392E possibly damaging Het
Notch2 C A 3: 98,116,741 N840K possibly damaging Het
Nubp1 T C 16: 10,422,814 probably benign Het
Olfr1140 A T 2: 87,746,673 Q159L probably benign Het
Olfr832 T C 9: 18,945,148 S167P probably damaging Het
Pcdh17 T A 14: 84,447,457 S455T probably damaging Het
Picalm C A 7: 90,130,668 H32Q probably benign Het
Pold1 T C 7: 44,535,092 E828G probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rala A T 13: 17,888,648 N119K probably benign Het
Rasal2 A T 1: 157,147,792 V1149E possibly damaging Het
Rd3 A G 1: 191,983,540 Y92C probably damaging Het
Sart1 A T 19: 5,381,724 D635E probably damaging Het
Sec16b A G 1: 157,537,546 T335A possibly damaging Het
Slc11a2 C T 15: 100,405,798 G185R probably damaging Het
Slc2a12 G A 10: 22,665,068 R274H probably damaging Het
Spag17 T C 3: 100,125,302 V2276A probably damaging Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tenm2 T C 11: 36,163,730 D601G probably damaging Het
Tmem168 C A 6: 13,603,361 C2F probably damaging Het
Tmem80 A G 7: 141,333,696 Y13C probably damaging Het
Try4 T A 6: 41,304,362 N79K probably benign Het
Vldlr C A 19: 27,247,918 N798K probably damaging Het
Wdr41 A G 13: 94,995,305 probably benign Het
Zfp366 A C 13: 99,229,278 T316P probably damaging Het
Zfp563 A T 17: 33,104,685 S85C possibly damaging Het
Znfx1 T C 2: 167,041,701 H162R probably damaging Het
Other mutations in Zfp30
AlleleSourceChrCoordTypePredicted EffectPPH Score
elo UTSW 7 29793066 nonsense probably null
R0022:Zfp30 UTSW 7 29792435 missense possibly damaging 0.68
R0218:Zfp30 UTSW 7 29793638 missense probably damaging 1.00
R0349:Zfp30 UTSW 7 29793604 missense probably damaging 1.00
R0653:Zfp30 UTSW 7 29792753 missense probably damaging 1.00
R1836:Zfp30 UTSW 7 29793380 missense probably damaging 0.96
R1966:Zfp30 UTSW 7 29792452 missense probably benign
R2100:Zfp30 UTSW 7 29793526 missense probably benign 0.30
R3696:Zfp30 UTSW 7 29793390 missense probably damaging 1.00
R3723:Zfp30 UTSW 7 29793353 missense probably damaging 0.97
R4571:Zfp30 UTSW 7 29793202 missense probably damaging 1.00
R5027:Zfp30 UTSW 7 29793066 nonsense probably null
R5070:Zfp30 UTSW 7 29786266 utr 5 prime probably benign
R6013:Zfp30 UTSW 7 29789421 missense possibly damaging 0.79
R7274:Zfp30 UTSW 7 29792618 missense probably benign
R7484:Zfp30 UTSW 7 29792806 missense probably benign 0.01
R8181:Zfp30 UTSW 7 29793655 missense probably benign 0.03
R8255:Zfp30 UTSW 7 29789401 missense probably benign
Predicted Primers PCR Primer
(F):5'- CGAAGACTCCCTTTTGGGGAAAGAC -3'
(R):5'- CCGCACTCTTTACAATCGTAGGGC -3'

Sequencing Primer
(F):5'- CTCTCATAGGGTATATTTCAGACACG -3'
(R):5'- ACAATCGTAGGGCTTCTCG -3'
Posted On2013-06-12