Incidental Mutation 'R6288:Zfp473'
ID 509233
Institutional Source Beutler Lab
Gene Symbol Zfp473
Ensembl Gene ENSMUSG00000048012
Gene Name zinc finger protein 473
Synonyms D030014N22Rik
MMRRC Submission 044458-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R6288 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44380904-44398041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44382958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 457 (K457N)
Ref Sequence ENSEMBL: ENSMUSP00000113789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060270] [ENSMUST00000118162] [ENSMUST00000120074] [ENSMUST00000120798] [ENSMUST00000126366] [ENSMUST00000140599] [ENSMUST00000149011]
AlphaFold Q8BI67
Predicted Effect probably damaging
Transcript: ENSMUST00000060270
AA Change: K458N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: K458N

DomainStartEndE-ValueType
KRAB 23 84 8.77e-3 SMART
ZnF_C2H2 209 231 1.18e-2 SMART
ZnF_C2H2 265 287 8.47e-4 SMART
ZnF_C2H2 377 399 2.4e-3 SMART
ZnF_C2H2 404 426 8.31e0 SMART
ZnF_C2H2 432 454 1.64e-1 SMART
ZnF_C2H2 460 482 1.98e-4 SMART
ZnF_C2H2 488 510 3.44e-4 SMART
ZnF_C2H2 516 538 2.57e-3 SMART
ZnF_C2H2 544 566 3.29e-1 SMART
ZnF_C2H2 572 594 2.29e0 SMART
ZnF_C2H2 697 719 1.47e1 SMART
ZnF_C2H2 725 747 1.04e-3 SMART
ZnF_C2H2 753 775 3.39e-3 SMART
ZnF_C2H2 781 803 2.24e-3 SMART
ZnF_C2H2 809 831 5.99e-4 SMART
ZnF_C2H2 837 859 1.36e-2 SMART
ZnF_C2H2 865 887 2.57e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118162
AA Change: K457N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: K457N

DomainStartEndE-ValueType
KRAB 23 83 7.75e-3 SMART
ZnF_C2H2 208 230 1.18e-2 SMART
ZnF_C2H2 264 286 8.47e-4 SMART
ZnF_C2H2 376 398 2.4e-3 SMART
ZnF_C2H2 403 425 8.31e0 SMART
ZnF_C2H2 431 453 1.64e-1 SMART
ZnF_C2H2 459 481 1.98e-4 SMART
ZnF_C2H2 487 509 3.44e-4 SMART
ZnF_C2H2 515 537 2.57e-3 SMART
ZnF_C2H2 543 565 3.29e-1 SMART
ZnF_C2H2 571 593 2.29e0 SMART
ZnF_C2H2 696 718 1.47e1 SMART
ZnF_C2H2 724 746 1.04e-3 SMART
ZnF_C2H2 752 774 3.39e-3 SMART
ZnF_C2H2 780 802 2.24e-3 SMART
ZnF_C2H2 808 830 5.99e-4 SMART
ZnF_C2H2 836 858 1.36e-2 SMART
ZnF_C2H2 864 886 2.57e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120074
AA Change: K458N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: K458N

DomainStartEndE-ValueType
KRAB 23 84 8.77e-3 SMART
ZnF_C2H2 209 231 1.18e-2 SMART
ZnF_C2H2 265 287 8.47e-4 SMART
ZnF_C2H2 377 399 2.4e-3 SMART
ZnF_C2H2 404 426 8.31e0 SMART
ZnF_C2H2 432 454 1.64e-1 SMART
ZnF_C2H2 460 482 1.98e-4 SMART
ZnF_C2H2 488 510 3.44e-4 SMART
ZnF_C2H2 516 538 2.57e-3 SMART
ZnF_C2H2 544 566 3.29e-1 SMART
ZnF_C2H2 572 594 2.29e0 SMART
ZnF_C2H2 697 719 1.47e1 SMART
ZnF_C2H2 725 747 1.04e-3 SMART
ZnF_C2H2 753 775 3.39e-3 SMART
ZnF_C2H2 781 803 2.24e-3 SMART
ZnF_C2H2 809 831 5.99e-4 SMART
ZnF_C2H2 837 859 1.36e-2 SMART
ZnF_C2H2 865 887 2.57e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120798
AA Change: K457N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: K457N

DomainStartEndE-ValueType
KRAB 23 83 7.75e-3 SMART
ZnF_C2H2 208 230 1.18e-2 SMART
ZnF_C2H2 264 286 8.47e-4 SMART
ZnF_C2H2 376 398 2.4e-3 SMART
ZnF_C2H2 403 425 8.31e0 SMART
ZnF_C2H2 431 453 1.64e-1 SMART
ZnF_C2H2 459 481 1.98e-4 SMART
ZnF_C2H2 487 509 3.44e-4 SMART
ZnF_C2H2 515 537 2.57e-3 SMART
ZnF_C2H2 543 565 3.29e-1 SMART
ZnF_C2H2 571 593 2.29e0 SMART
ZnF_C2H2 696 718 1.47e1 SMART
ZnF_C2H2 724 746 1.04e-3 SMART
ZnF_C2H2 752 774 3.39e-3 SMART
ZnF_C2H2 780 802 2.24e-3 SMART
ZnF_C2H2 808 830 5.99e-4 SMART
ZnF_C2H2 836 858 1.36e-2 SMART
ZnF_C2H2 864 886 2.57e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126366
SMART Domains Protein: ENSMUSP00000127101
Gene: ENSMUSG00000048012

DomainStartEndE-ValueType
KRAB 23 84 8.77e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140599
SMART Domains Protein: ENSMUSP00000127738
Gene: ENSMUSG00000048012

DomainStartEndE-ValueType
KRAB 23 84 8.77e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149011
SMART Domains Protein: ENSMUSP00000130689
Gene: ENSMUSG00000048012

DomainStartEndE-ValueType
KRAB 23 84 8.77e-3 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (32/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G T 11: 58,184,421 (GRCm39) D380Y probably damaging Het
4931406B18Rik T A 7: 43,147,549 (GRCm39) E274V probably damaging Het
Ankrd44 A G 1: 54,802,922 (GRCm39) L192P probably damaging Het
Apbb1 T A 7: 105,208,434 (GRCm39) I624F probably damaging Het
Asxl2 A G 12: 3,526,040 (GRCm39) K219E possibly damaging Het
Bean1 T A 8: 104,937,622 (GRCm39) L33Q probably damaging Het
Cdhr17 T A 5: 17,061,283 (GRCm39) C738S possibly damaging Het
Col22a1 T C 15: 71,766,718 (GRCm39) probably null Het
Col6a4 T C 9: 105,945,462 (GRCm39) D884G probably damaging Het
Crocc2 A G 1: 93,122,227 (GRCm39) R707G probably benign Het
Cts7 C T 13: 61,500,584 (GRCm39) G321E probably damaging Het
Cyp2d9 C T 15: 82,340,616 (GRCm39) H422Y probably damaging Het
Epha2 C T 4: 141,044,344 (GRCm39) A382V probably benign Het
Fam151a A C 4: 106,605,341 (GRCm39) T568P probably damaging Het
Fbln2 A T 6: 91,210,263 (GRCm39) Y69F probably damaging Het
Flg2 A T 3: 93,111,092 (GRCm39) H1040L unknown Het
Gucy2g T C 19: 55,215,945 (GRCm39) T476A probably benign Het
H3c7 A G 13: 23,728,664 (GRCm39) T4A probably benign Het
Ighv1-20 C T 12: 114,687,519 (GRCm39) G75D probably benign Het
Inpp5b G A 4: 124,679,020 (GRCm39) V476I probably benign Het
Nrxn2 T A 19: 6,540,591 (GRCm39) L855Q probably damaging Het
Or52ab2 A G 7: 102,970,286 (GRCm39) I223V probably damaging Het
Or8h7 A G 2: 86,721,226 (GRCm39) F98L probably benign Het
Pcolce2 T A 9: 95,563,646 (GRCm39) Y211N probably damaging Het
Phf21b A C 15: 84,739,272 (GRCm39) probably benign Het
Rbm8a2 T C 1: 175,806,111 (GRCm39) E122G probably benign Het
Rimbp3 C T 16: 17,030,772 (GRCm39) P1399S probably benign Het
Slc38a1 A G 15: 96,484,759 (GRCm39) V267A probably benign Het
Sox11 A G 12: 27,392,332 (GRCm39) F26L possibly damaging Het
Ssbp3 T A 4: 106,903,277 (GRCm39) probably null Het
Trim12c C T 7: 103,995,936 (GRCm39) V146I probably benign Het
Trrap C A 5: 144,748,802 (GRCm39) T1543K probably damaging Het
Other mutations in Zfp473
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Zfp473 APN 7 44,383,992 (GRCm39) missense probably damaging 1.00
IGL01443:Zfp473 APN 7 44,388,987 (GRCm39) missense probably damaging 0.99
IGL01459:Zfp473 APN 7 44,388,987 (GRCm39) missense probably damaging 0.99
IGL01905:Zfp473 APN 7 44,383,151 (GRCm39) missense probably benign 0.00
IGL02027:Zfp473 APN 7 44,387,462 (GRCm39) splice site probably benign
IGL02314:Zfp473 APN 7 44,383,353 (GRCm39) missense probably benign 0.00
IGL02445:Zfp473 APN 7 44,383,107 (GRCm39) missense probably damaging 1.00
IGL03033:Zfp473 APN 7 44,382,522 (GRCm39) missense probably benign 0.05
R0037:Zfp473 UTSW 7 44,383,324 (GRCm39) missense probably damaging 0.96
R0054:Zfp473 UTSW 7 44,383,899 (GRCm39) missense probably damaging 0.99
R0054:Zfp473 UTSW 7 44,383,899 (GRCm39) missense probably damaging 0.99
R0190:Zfp473 UTSW 7 44,382,612 (GRCm39) missense probably damaging 1.00
R1178:Zfp473 UTSW 7 44,384,018 (GRCm39) missense probably benign 0.00
R1387:Zfp473 UTSW 7 44,382,365 (GRCm39) missense probably benign 0.00
R2141:Zfp473 UTSW 7 44,382,501 (GRCm39) missense possibly damaging 0.57
R2142:Zfp473 UTSW 7 44,382,501 (GRCm39) missense possibly damaging 0.57
R4194:Zfp473 UTSW 7 44,381,676 (GRCm39) missense probably benign 0.08
R4453:Zfp473 UTSW 7 44,382,678 (GRCm39) missense probably damaging 0.99
R4585:Zfp473 UTSW 7 44,382,376 (GRCm39) nonsense probably null
R4586:Zfp473 UTSW 7 44,382,376 (GRCm39) nonsense probably null
R4945:Zfp473 UTSW 7 44,383,988 (GRCm39) missense probably benign 0.00
R5072:Zfp473 UTSW 7 44,381,943 (GRCm39) missense probably damaging 0.98
R5429:Zfp473 UTSW 7 44,382,272 (GRCm39) missense possibly damaging 0.69
R5464:Zfp473 UTSW 7 44,382,062 (GRCm39) missense probably damaging 1.00
R5551:Zfp473 UTSW 7 44,383,575 (GRCm39) missense probably benign 0.03
R5618:Zfp473 UTSW 7 44,391,156 (GRCm39) missense probably benign 0.08
R5985:Zfp473 UTSW 7 44,382,752 (GRCm39) missense probably damaging 1.00
R6701:Zfp473 UTSW 7 44,382,218 (GRCm39) missense possibly damaging 0.58
R7069:Zfp473 UTSW 7 44,381,798 (GRCm39) missense probably damaging 1.00
R7284:Zfp473 UTSW 7 44,382,627 (GRCm39) missense not run
R7361:Zfp473 UTSW 7 44,382,563 (GRCm39) missense probably damaging 1.00
R7495:Zfp473 UTSW 7 44,387,368 (GRCm39) missense probably benign 0.04
R7631:Zfp473 UTSW 7 44,383,128 (GRCm39) missense possibly damaging 0.62
R7940:Zfp473 UTSW 7 44,384,000 (GRCm39) missense probably damaging 1.00
R7957:Zfp473 UTSW 7 44,381,916 (GRCm39) missense probably damaging 1.00
R8480:Zfp473 UTSW 7 44,382,323 (GRCm39) missense probably damaging 1.00
R9464:Zfp473 UTSW 7 44,383,766 (GRCm39) missense probably benign 0.00
R9569:Zfp473 UTSW 7 44,388,971 (GRCm39) missense probably damaging 1.00
X0027:Zfp473 UTSW 7 44,382,842 (GRCm39) missense probably damaging 1.00
Z1177:Zfp473 UTSW 7 44,381,732 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCGGTGTCGAACTAAGTGTG -3'
(R):5'- ACTCTACAAGTGCGCTTCG -3'

Sequencing Primer
(F):5'- TCGGTTAAAAGTCCTGGCAC -3'
(R):5'- AAGTGCGCTTCGTGCCC -3'
Posted On 2018-04-02