Incidental Mutation 'R4571:Zfp30'
ID 342139
Institutional Source Beutler Lab
Gene Symbol Zfp30
Ensembl Gene ENSMUSG00000047473
Gene Name zinc finger protein 30
Synonyms Zfp-30, 2610306P15Rik
MMRRC Submission 041795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R4571 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 29483423-29494127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29492627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 294 (R294G)
Ref Sequence ENSEMBL: ENSMUSP00000113426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032803] [ENSMUST00000122387]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032803
AA Change: R375G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032803
Gene: ENSMUSG00000047473
AA Change: R375G

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: R294G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113426
Gene: ENSMUSG00000047473
AA Change: R294G

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 0.4115 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,920,884 (GRCm39) C1497S probably damaging Het
Acoxl G T 2: 127,719,727 (GRCm39) G163W probably damaging Het
Apbb1 T A 7: 105,222,969 (GRCm39) N214I probably damaging Het
Apol7b T C 15: 77,307,734 (GRCm39) K254E probably benign Het
Arl4d T A 11: 101,557,969 (GRCm39) V165E possibly damaging Het
Brca1 C A 11: 101,408,192 (GRCm39) R1377L probably benign Het
Btf3 A G 13: 98,449,792 (GRCm39) F65L probably benign Het
C2 T C 17: 35,082,635 (GRCm39) N495D probably benign Het
Cacna1c T C 6: 118,607,341 (GRCm39) T1188A probably benign Het
Chd7 C A 4: 8,866,217 (GRCm39) D796E probably benign Het
Clasp2 G T 9: 113,676,789 (GRCm39) L173F probably damaging Het
Clec4g A T 8: 3,768,766 (GRCm39) probably null Het
Col9a3 T C 2: 180,258,159 (GRCm39) probably benign Het
Csmd2 T A 4: 128,373,888 (GRCm39) probably null Het
Ddx11 T C 17: 66,437,768 (GRCm39) C165R probably benign Het
Dnah7c A C 1: 46,572,376 (GRCm39) M950L probably damaging Het
Dusp23 A C 1: 172,460,181 (GRCm39) probably null Het
Ebag9 A T 15: 44,500,158 (GRCm39) probably null Het
Edn3 G A 2: 174,623,697 (GRCm39) A211T probably benign Het
Eif3e G A 15: 43,129,558 (GRCm39) T190I possibly damaging Het
Fam76a T C 4: 132,648,208 (GRCm39) H3R possibly damaging Het
Gabbr1 G T 17: 37,365,128 (GRCm39) E138* probably null Het
Galc T C 12: 98,188,876 (GRCm39) T412A probably benign Het
Gimap3 T C 6: 48,742,654 (GRCm39) D92G possibly damaging Het
Gin1 T C 1: 97,712,801 (GRCm39) Y285H probably damaging Het
Gm4868 A G 5: 125,925,782 (GRCm39) noncoding transcript Het
Gm7052 T A 17: 22,259,405 (GRCm39) probably benign Het
Gpcpd1 T A 2: 132,392,270 (GRCm39) E226D probably benign Het
Hoxb4 T C 11: 96,209,992 (GRCm39) S133P possibly damaging Het
Hrg C T 16: 22,779,972 (GRCm39) probably benign Het
Insrr A G 3: 87,708,194 (GRCm39) K212R probably benign Het
Ipp A G 4: 116,387,655 (GRCm39) D411G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 A G 15: 65,902,461 (GRCm39) F172L probably damaging Het
Kdm5d T C Y: 927,110 (GRCm39) F616S probably damaging Het
Lars1 T C 18: 42,361,295 (GRCm39) probably null Het
Lmo7 G T 14: 102,125,030 (GRCm39) Q496H probably damaging Het
Map3k9 C A 12: 81,780,865 (GRCm39) A432S probably benign Het
Nop2 T G 6: 125,117,844 (GRCm39) probably null Het
Nup50l T A 6: 96,141,862 (GRCm39) N394I probably damaging Het
Or10ag53 C A 2: 87,082,802 (GRCm39) Q174K possibly damaging Het
Or2h2 T C 17: 37,396,471 (GRCm39) I195M probably damaging Het
Or5m11b A T 2: 85,806,175 (GRCm39) E196V probably damaging Het
Or6k2 A T 1: 173,986,494 (GRCm39) N52Y possibly damaging Het
Pan2 A G 10: 128,144,512 (GRCm39) T187A probably benign Het
Pcmtd2 A G 2: 181,484,217 (GRCm39) E9G possibly damaging Het
Pik3cb T A 9: 98,972,310 (GRCm39) I283F possibly damaging Het
Pkhd1 G A 1: 20,683,633 (GRCm39) T40I probably damaging Het
Plxna2 T C 1: 194,493,296 (GRCm39) V1857A possibly damaging Het
Polg T C 7: 79,110,127 (GRCm39) S334G probably damaging Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rpl5-ps2 G T 2: 154,546,156 (GRCm39) noncoding transcript Het
Slc6a18 A T 13: 73,814,489 (GRCm39) N468K possibly damaging Het
Slco4a1 A T 2: 180,106,171 (GRCm39) T118S probably benign Het
Smg1 A T 7: 117,738,688 (GRCm39) N3520K possibly damaging Het
Tapbp C A 17: 34,145,427 (GRCm39) D415E probably damaging Het
Topaz1 A G 9: 122,576,501 (GRCm39) T31A probably benign Het
Trpv6 C T 6: 41,598,678 (GRCm39) R649H probably damaging Het
Vmn1r188 A G 13: 22,272,688 (GRCm39) Y214C probably benign Het
Vps8 T A 16: 21,254,525 (GRCm39) I59N probably damaging Het
Wnt9a T C 11: 59,222,163 (GRCm39) C354R probably damaging Het
Zcchc2 A G 1: 105,958,987 (GRCm39) T1153A possibly damaging Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Zfp62 A C 11: 49,106,568 (GRCm39) S220R probably damaging Het
Zfp62 G T 11: 49,106,569 (GRCm39) S220I probably damaging Het
Zp3r A G 1: 130,505,757 (GRCm39) S423P probably damaging Het
Other mutations in Zfp30
AlleleSourceChrCoordTypePredicted EffectPPH Score
elo UTSW 7 29,492,491 (GRCm39) nonsense probably null
R0022:Zfp30 UTSW 7 29,491,860 (GRCm39) missense possibly damaging 0.68
R0218:Zfp30 UTSW 7 29,493,063 (GRCm39) missense probably damaging 1.00
R0349:Zfp30 UTSW 7 29,493,029 (GRCm39) missense probably damaging 1.00
R0537:Zfp30 UTSW 7 29,492,160 (GRCm39) missense probably damaging 0.98
R0653:Zfp30 UTSW 7 29,492,178 (GRCm39) missense probably damaging 1.00
R1836:Zfp30 UTSW 7 29,492,805 (GRCm39) missense probably damaging 0.96
R1966:Zfp30 UTSW 7 29,491,877 (GRCm39) missense probably benign
R2100:Zfp30 UTSW 7 29,492,951 (GRCm39) missense probably benign 0.30
R3696:Zfp30 UTSW 7 29,492,815 (GRCm39) missense probably damaging 1.00
R3723:Zfp30 UTSW 7 29,492,778 (GRCm39) missense probably damaging 0.97
R5027:Zfp30 UTSW 7 29,492,491 (GRCm39) nonsense probably null
R5070:Zfp30 UTSW 7 29,485,691 (GRCm39) utr 5 prime probably benign
R6013:Zfp30 UTSW 7 29,488,846 (GRCm39) missense possibly damaging 0.79
R7274:Zfp30 UTSW 7 29,492,043 (GRCm39) missense probably benign
R7484:Zfp30 UTSW 7 29,492,231 (GRCm39) missense probably benign 0.01
R8181:Zfp30 UTSW 7 29,493,080 (GRCm39) missense probably benign 0.03
R8255:Zfp30 UTSW 7 29,488,826 (GRCm39) missense probably benign
R9730:Zfp30 UTSW 7 29,492,139 (GRCm39) missense probably damaging 1.00
Z1186:Zfp30 UTSW 7 29,492,004 (GRCm39) missense probably benign
Z1186:Zfp30 UTSW 7 29,491,932 (GRCm39) missense probably benign
Z1186:Zfp30 UTSW 7 29,491,902 (GRCm39) missense possibly damaging 0.86
Z1186:Zfp30 UTSW 7 29,492,196 (GRCm39) missense probably benign 0.02
Z1186:Zfp30 UTSW 7 29,492,021 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATCAGAGGCTCAACAGTGGC -3'
(R):5'- TGCAAGGCAAGGATTCGTAG -3'

Sequencing Primer
(F):5'- TCAACAGTGGCAGCTCACG -3'
(R):5'- CCAAAATGAATGCTCTGGTGCTG -3'
Posted On 2015-09-24