Incidental Mutation 'R0190:Zfp473'
ID 23168
Institutional Source Beutler Lab
Gene Symbol Zfp473
Ensembl Gene ENSMUSG00000048012
Gene Name zinc finger protein 473
Synonyms D030014N22Rik
MMRRC Submission 038451-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R0190 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44380904-44398041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44382612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 574 (C574S)
Ref Sequence ENSEMBL: ENSMUSP00000113774 (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: C574S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: C574S

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: C573S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: C573S

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: C574S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: C574S

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: C573S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: C573S

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 91.6%
  • 20x: 72.5%
Validation Efficiency 75% (45/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,429 (GRCm39) probably null Het
Aff2 CA CAAA X: 68,892,711 (GRCm39) probably null Het
Ankrd34a A G 3: 96,505,105 (GRCm39) D103G probably damaging Het
Atp1b2 T C 11: 69,492,388 (GRCm39) D224G probably damaging Het
Atxn10 A G 15: 85,220,730 (GRCm39) D22G possibly damaging Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Caskin1 C T 17: 24,723,596 (GRCm39) L795F possibly damaging Het
Cdk12 T C 11: 98,132,657 (GRCm39) probably null Het
Crtc2 A G 3: 90,166,716 (GRCm39) H91R probably damaging Het
Dbt A G 3: 116,332,736 (GRCm39) probably null Het
Dda1 C A 8: 71,924,877 (GRCm39) Y41* probably null Het
Dnah2 T A 11: 69,326,075 (GRCm39) D3692V probably damaging Het
Dpep1 A G 8: 123,927,447 (GRCm39) T334A probably benign Het
Enthd1 C T 15: 80,418,695 (GRCm39) probably null Het
Fpr-rs6 T A 17: 20,402,741 (GRCm39) I207F probably benign Het
Fsip2 T A 2: 82,815,521 (GRCm39) S3751R possibly damaging Het
Gigyf2 A T 1: 87,356,410 (GRCm39) probably benign Het
Gtf3c4 C A 2: 28,730,140 (GRCm39) D34Y probably benign Het
Iftap G A 2: 101,416,775 (GRCm39) S58L probably benign Het
Igfn1 A T 1: 135,889,790 (GRCm39) V2419E probably damaging Het
Kank1 A T 19: 25,386,647 (GRCm39) I79L probably benign Het
Kif21b A G 1: 136,098,957 (GRCm39) H1415R probably benign Het
Mad2l1 T C 6: 66,516,862 (GRCm39) S185P possibly damaging Het
Mettl18 A G 1: 163,823,991 (GRCm39) E104G probably damaging Het
Mrgprb2 G A 7: 48,202,525 (GRCm39) H67Y possibly damaging Het
Mrgprd G A 7: 144,875,439 (GRCm39) M103I probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Npc1 G A 18: 12,324,887 (GRCm39) T1202I probably damaging Het
Nucks1 A G 1: 131,852,329 (GRCm39) D60G probably damaging Het
Or10g7 A G 9: 39,905,840 (GRCm39) I245V probably benign Het
Or13f5 G C 4: 52,825,613 (GRCm39) W72S probably damaging Het
Or4a72 T A 2: 89,405,302 (GRCm39) Y256F probably damaging Het
Paqr8 A G 1: 21,005,271 (GRCm39) T142A probably benign Het
Pdss1 T C 2: 22,796,843 (GRCm39) S119P probably damaging Het
Plcl2 A G 17: 50,914,671 (GRCm39) D560G probably benign Het
Ppm1b T A 17: 85,301,531 (GRCm39) V137E probably damaging Het
Ppp1r16b A C 2: 158,537,983 (GRCm39) K35Q probably damaging Het
Prkd2 A T 7: 16,603,815 (GRCm39) E832V probably damaging Het
Rab34 G T 11: 78,082,232 (GRCm39) K191N possibly damaging Het
Rad51ap2 A C 12: 11,508,540 (GRCm39) T821P probably benign Het
Rbm19 A G 5: 120,282,111 (GRCm39) T823A probably benign Het
Rpf2 T G 10: 40,103,597 (GRCm39) H106P probably damaging Het
Schip1 A G 3: 68,533,177 (GRCm39) M453V probably benign Het
Sema5a T A 15: 32,562,920 (GRCm39) N310K possibly damaging Het
Sf3b1 T C 1: 55,029,465 (GRCm39) D1179G probably damaging Het
Skint2 A T 4: 112,473,729 (GRCm39) T4S possibly damaging Het
Slc22a5 A T 11: 53,760,241 (GRCm39) Y358* probably null Het
Slc34a1 T C 13: 55,556,914 (GRCm39) M251T probably benign Het
Slc44a5 A G 3: 153,944,755 (GRCm39) D124G probably null Het
Slc9b1 G A 3: 135,063,434 (GRCm39) E73K unknown Het
Ssbp2 T C 13: 91,817,829 (GRCm39) L156P probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Trim47 A G 11: 115,997,053 (GRCm39) V568A probably damaging Het
Ttn A T 2: 76,718,324 (GRCm39) probably benign Het
Ttpa A T 4: 20,021,260 (GRCm39) I74F probably damaging Het
Vmn2r52 T C 7: 9,905,315 (GRCm39) I175V probably benign Het
Wrn C T 8: 33,731,011 (GRCm39) C1350Y probably benign Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp422 A T 6: 116,603,572 (GRCm39) D142E probably damaging Het
Zfp638 T A 6: 83,905,946 (GRCm39) M37K probably damaging Het
Zfp976 C A 7: 42,291,948 (GRCm39) probably benign 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
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
R6288:Zfp473 UTSW 7 44,382,958 (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'- TGATGGCAAATGGGCTGCACAC -3'
(R):5'- GCCAGGACTTTTAACCGACCTTCAC -3'

Sequencing Primer
(F):5'- ATGTCACCTGGGCATGAATC -3'
(R):5'- CACTTAGTTCGACACCGGC -3'
Posted On 2013-04-16