Incidental Mutation 'R0419:Zfp280d'
ID 36933
Institutional Source Beutler Lab
Gene Symbol Zfp280d
Ensembl Gene ENSMUSG00000038535
Gene Name zinc finger protein 280D
Synonyms Suhw4
MMRRC Submission 038621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.245) question?
Stock # R0419 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72182142-72271059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72219519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 32 (V32A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098576] [ENSMUST00000183410] [ENSMUST00000183801] [ENSMUST00000184036] [ENSMUST00000184053] [ENSMUST00000184517] [ENSMUST00000184399]
AlphaFold Q68FE8
Predicted Effect probably benign
Transcript: ENSMUST00000098576
AA Change: V232A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535
AA Change: V232A

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Pfam:DUF4195 57 241 6.8e-82 PFAM
ZnF_C2H2 252 272 1.24e2 SMART
ZnF_C2H2 333 355 6.92e0 SMART
ZnF_C2H2 370 393 3.99e0 SMART
ZnF_C2H2 400 423 1.08e-1 SMART
ZnF_C2H2 430 453 3.52e-1 SMART
ZnF_C2H2 459 481 2.41e1 SMART
ZnF_C2H2 487 509 3.38e1 SMART
low complexity region 539 561 N/A INTRINSIC
low complexity region 591 611 N/A INTRINSIC
ZnF_C2H2 656 679 1.23e1 SMART
ZnF_C2H2 702 726 1.34e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183410
AA Change: V232A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
AA Change: V232A

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Pfam:DUF4195 57 242 4.1e-98 PFAM
ZnF_C2H2 252 272 1.24e2 SMART
ZnF_C2H2 333 355 6.92e0 SMART
ZnF_C2H2 370 393 3.99e0 SMART
ZnF_C2H2 400 423 1.08e-1 SMART
ZnF_C2H2 430 453 3.52e-1 SMART
ZnF_C2H2 459 481 2.41e1 SMART
ZnF_C2H2 487 509 3.38e1 SMART
low complexity region 539 561 N/A INTRINSIC
low complexity region 591 611 N/A INTRINSIC
ZnF_C2H2 656 679 1.23e1 SMART
ZnF_C2H2 702 726 1.34e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183608
Predicted Effect probably benign
Transcript: ENSMUST00000183801
AA Change: V232A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000139091
Gene: ENSMUSG00000038535
AA Change: V232A

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Pfam:DUF4195 57 242 1.9e-98 PFAM
ZnF_C2H2 252 272 1.24e2 SMART
ZnF_C2H2 333 355 6.92e0 SMART
ZnF_C2H2 370 393 3.99e0 SMART
ZnF_C2H2 400 423 1.08e-1 SMART
ZnF_C2H2 430 453 3.52e-1 SMART
ZnF_C2H2 459 481 2.41e1 SMART
ZnF_C2H2 487 509 3.38e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184036
AA Change: V207A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535
AA Change: V207A

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 18 30 N/A INTRINSIC
Pfam:DUF4195 32 217 5.5e-98 PFAM
ZnF_C2H2 227 247 1.24e2 SMART
ZnF_C2H2 308 330 6.92e0 SMART
ZnF_C2H2 345 368 3.99e0 SMART
ZnF_C2H2 375 398 1.08e-1 SMART
ZnF_C2H2 405 428 3.52e-1 SMART
ZnF_C2H2 434 456 2.41e1 SMART
ZnF_C2H2 462 484 3.38e1 SMART
low complexity region 514 536 N/A INTRINSIC
low complexity region 566 586 N/A INTRINSIC
ZnF_C2H2 631 654 1.23e1 SMART
ZnF_C2H2 677 701 1.34e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184053
SMART Domains Protein: ENSMUSP00000138848
Gene: ENSMUSG00000038535

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Pfam:DUF4195 57 147 1e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184517
AA Change: V232A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535
AA Change: V232A

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Pfam:DUF4195 57 242 2.2e-98 PFAM
ZnF_C2H2 252 272 1.24e2 SMART
ZnF_C2H2 333 355 6.92e0 SMART
ZnF_C2H2 370 393 3.99e0 SMART
ZnF_C2H2 400 423 1.08e-1 SMART
ZnF_C2H2 430 453 3.52e-1 SMART
ZnF_C2H2 459 481 2.41e1 SMART
ZnF_C2H2 487 509 3.38e1 SMART
low complexity region 539 561 N/A INTRINSIC
low complexity region 591 611 N/A INTRINSIC
ZnF_C2H2 656 679 1.23e1 SMART
ZnF_C2H2 702 726 1.34e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185020
AA Change: V32A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184248
Predicted Effect probably benign
Transcript: ENSMUST00000184786
Predicted Effect probably benign
Transcript: ENSMUST00000184399
SMART Domains Protein: ENSMUSP00000138902
Gene: ENSMUSG00000038535

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Pfam:DUF4195 57 103 4.8e-23 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
Allele List at MGI

All alleles(100) : Targeted(2) Gene trapped(98)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,601,842 (GRCm39) probably benign Het
5730507C01Rik A T 12: 18,583,424 (GRCm39) R161S possibly damaging Het
Adamts5 T C 16: 85,663,530 (GRCm39) I735V probably benign Het
Arid1a G T 4: 133,408,435 (GRCm39) P2024Q unknown Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
B3galt4 T C 17: 34,169,764 (GRCm39) Y158C probably damaging Het
BC049715 A G 6: 136,817,143 (GRCm39) T128A possibly damaging Het
Btaf1 T A 19: 36,922,629 (GRCm39) I11N probably damaging Het
Cfb T C 17: 35,077,485 (GRCm39) I496V probably damaging Het
Chd8 A T 14: 52,441,517 (GRCm39) H858Q probably benign Het
Chrne T C 11: 70,506,549 (GRCm39) I324V probably benign Het
Clec14a T C 12: 58,314,451 (GRCm39) I390M probably damaging Het
Cpsf3 A G 12: 21,347,800 (GRCm39) Y207C probably damaging Het
Cubn A C 2: 13,474,574 (GRCm39) I410S possibly damaging Het
Cubn T A 2: 13,474,575 (GRCm39) I410F possibly damaging Het
Dlc1 T C 8: 37,050,740 (GRCm39) E997G possibly damaging Het
Emilin1 G T 5: 31,072,366 (GRCm39) V71F probably damaging Het
Esrp2 T C 8: 106,861,307 (GRCm39) E164G probably damaging Het
Fars2 A G 13: 36,721,285 (GRCm39) T410A probably benign Het
Fat3 A G 9: 15,903,552 (GRCm39) V2981A probably damaging Het
Fkbp15 G A 4: 62,244,373 (GRCm39) T472I probably benign Het
Gm6871 A G 7: 41,222,869 (GRCm39) V73A probably benign Het
Gnl2 T G 4: 124,947,320 (GRCm39) S647R probably benign Het
Grb10 T C 11: 11,884,207 (GRCm39) I500V possibly damaging Het
Herc1 T C 9: 66,353,356 (GRCm39) probably benign Het
Iqgap2 A C 13: 95,826,207 (GRCm39) probably null Het
Kcnu1 A T 8: 26,427,646 (GRCm39) N321I probably benign Het
Kif23 G A 9: 61,833,687 (GRCm39) R519* probably null Het
Klhl1 C T 14: 96,619,225 (GRCm39) R224Q probably benign Het
Lama1 T C 17: 68,098,605 (GRCm39) probably null Het
Lamp3 T C 16: 19,492,302 (GRCm39) Y314C probably damaging Het
Lamtor5 C A 3: 107,189,227 (GRCm39) R88S probably damaging Het
Nbea G T 3: 55,726,715 (GRCm39) A2088E probably benign Het
Neo1 A G 9: 58,897,463 (GRCm39) probably benign Het
Ntn4 A T 10: 93,518,291 (GRCm39) R199S probably benign Het
Or5ap2 A T 2: 85,680,311 (GRCm39) R172* probably null Het
Plekho2 A G 9: 65,464,334 (GRCm39) S172P possibly damaging Het
Pmp2 T C 3: 10,245,823 (GRCm39) Y129C probably damaging Het
Prss3b T C 6: 41,011,281 (GRCm39) N34D probably benign Het
Ralgapa2 A T 2: 146,270,592 (GRCm39) M578K possibly damaging Het
Ranbp3 C T 17: 57,015,219 (GRCm39) T307M possibly damaging Het
Serpinb11 G A 1: 107,304,590 (GRCm39) W185* probably null Het
Setdb2 A T 14: 59,644,193 (GRCm39) probably null Het
Sirpb1b A T 3: 15,613,656 (GRCm39) V75E probably damaging Het
Slc13a1 A T 6: 24,100,292 (GRCm39) L397Q probably damaging Het
Slc19a1 T A 10: 76,878,742 (GRCm39) I355N probably damaging Het
Slc51a T A 16: 32,295,254 (GRCm39) I275F possibly damaging Het
Spink14 T C 18: 44,164,934 (GRCm39) S84P probably damaging Het
Stx2 A G 5: 129,070,641 (GRCm39) probably benign Het
Tgfbi G T 13: 56,780,006 (GRCm39) probably benign Het
Tshr T A 12: 91,504,643 (GRCm39) M527K probably damaging Het
Upb1 T C 10: 75,248,717 (GRCm39) V79A probably damaging Het
Zdhhc5 A T 2: 84,521,587 (GRCm39) probably null Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Other mutations in Zfp280d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Zfp280d APN 9 72,229,853 (GRCm39) missense probably damaging 1.00
IGL00708:Zfp280d APN 9 72,219,417 (GRCm39) missense probably benign 0.19
IGL01333:Zfp280d APN 9 72,242,396 (GRCm39) splice site probably benign
IGL01453:Zfp280d APN 9 72,229,868 (GRCm39) missense possibly damaging 0.90
IGL02472:Zfp280d APN 9 72,208,993 (GRCm39) missense probably damaging 1.00
IGL02583:Zfp280d APN 9 72,229,727 (GRCm39) splice site probably benign
IGL02608:Zfp280d APN 9 72,215,261 (GRCm39) missense probably damaging 0.98
IGL02675:Zfp280d APN 9 72,219,504 (GRCm39) missense probably benign 0.33
IGL02676:Zfp280d APN 9 72,242,356 (GRCm39) missense probably damaging 1.00
IGL02931:Zfp280d APN 9 72,203,307 (GRCm39) missense probably benign 0.02
IGL03076:Zfp280d APN 9 72,219,944 (GRCm39) missense probably damaging 0.99
R0017:Zfp280d UTSW 9 72,246,292 (GRCm39) critical splice acceptor site probably null
R0017:Zfp280d UTSW 9 72,246,292 (GRCm39) critical splice acceptor site probably null
R0288:Zfp280d UTSW 9 72,238,621 (GRCm39) nonsense probably null
R0540:Zfp280d UTSW 9 72,215,247 (GRCm39) missense probably damaging 0.97
R0628:Zfp280d UTSW 9 72,269,230 (GRCm39) missense probably benign
R0722:Zfp280d UTSW 9 72,219,383 (GRCm39) missense possibly damaging 0.63
R1055:Zfp280d UTSW 9 72,236,449 (GRCm39) splice site probably null
R1786:Zfp280d UTSW 9 72,215,287 (GRCm39) missense probably damaging 1.00
R1826:Zfp280d UTSW 9 72,206,062 (GRCm39) missense probably damaging 1.00
R1962:Zfp280d UTSW 9 72,242,362 (GRCm39) nonsense probably null
R2130:Zfp280d UTSW 9 72,215,287 (GRCm39) missense probably damaging 1.00
R2132:Zfp280d UTSW 9 72,215,287 (GRCm39) missense probably damaging 1.00
R2133:Zfp280d UTSW 9 72,215,287 (GRCm39) missense probably damaging 1.00
R2143:Zfp280d UTSW 9 72,220,011 (GRCm39) missense probably damaging 1.00
R2162:Zfp280d UTSW 9 72,206,104 (GRCm39) missense probably damaging 1.00
R2266:Zfp280d UTSW 9 72,209,052 (GRCm39) splice site probably benign
R2269:Zfp280d UTSW 9 72,209,052 (GRCm39) splice site probably benign
R2278:Zfp280d UTSW 9 72,246,055 (GRCm39) nonsense probably null
R2850:Zfp280d UTSW 9 72,219,371 (GRCm39) missense probably benign 0.06
R3780:Zfp280d UTSW 9 72,229,806 (GRCm39) missense probably damaging 1.00
R3950:Zfp280d UTSW 9 72,203,301 (GRCm39) missense possibly damaging 0.49
R4330:Zfp280d UTSW 9 72,203,261 (GRCm39) missense possibly damaging 0.86
R4716:Zfp280d UTSW 9 72,219,947 (GRCm39) missense possibly damaging 0.94
R4876:Zfp280d UTSW 9 72,206,140 (GRCm39) splice site probably benign
R4909:Zfp280d UTSW 9 72,238,714 (GRCm39) missense probably damaging 1.00
R5214:Zfp280d UTSW 9 72,215,395 (GRCm39) unclassified probably benign
R5518:Zfp280d UTSW 9 72,231,417 (GRCm39) missense probably damaging 0.99
R5853:Zfp280d UTSW 9 72,238,224 (GRCm39) missense probably benign 0.20
R5945:Zfp280d UTSW 9 72,269,614 (GRCm39) nonsense probably null
R6033:Zfp280d UTSW 9 72,236,419 (GRCm39) missense probably damaging 1.00
R6033:Zfp280d UTSW 9 72,236,419 (GRCm39) missense probably damaging 1.00
R7043:Zfp280d UTSW 9 72,226,539 (GRCm39) missense probably damaging 1.00
R7501:Zfp280d UTSW 9 72,269,224 (GRCm39) missense possibly damaging 0.65
R7658:Zfp280d UTSW 9 72,231,354 (GRCm39) missense probably damaging 1.00
R7667:Zfp280d UTSW 9 72,209,247 (GRCm39) missense probably damaging 1.00
R7792:Zfp280d UTSW 9 72,238,601 (GRCm39) missense probably damaging 1.00
R7826:Zfp280d UTSW 9 72,219,953 (GRCm39) missense possibly damaging 0.68
R7964:Zfp280d UTSW 9 72,229,740 (GRCm39) missense probably damaging 1.00
R8096:Zfp280d UTSW 9 72,226,560 (GRCm39) missense probably damaging 1.00
R8188:Zfp280d UTSW 9 72,267,615 (GRCm39) missense probably benign 0.01
R9210:Zfp280d UTSW 9 72,269,789 (GRCm39) makesense probably null
R9212:Zfp280d UTSW 9 72,269,789 (GRCm39) makesense probably null
R9435:Zfp280d UTSW 9 72,226,599 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- caccacgcccagcAATGATTTCTAT -3'
(R):5'- ACACTTGGGACATGCTCTTGGAAAA -3'

Sequencing Primer
(F):5'- AGTTCCCACATATTTAGACTTAACTG -3'
(R):5'- gtgccagaggagaatgtcag -3'
Posted On 2013-05-09