Incidental Mutation 'R0288:Zfp280d'
ID 24735
Institutional Source Beutler Lab
Gene Symbol Zfp280d
Ensembl Gene ENSMUSG00000038535
Gene Name zinc finger protein 280D
Synonyms Suhw4
MMRRC Submission 038507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.245) question?
Stock # R0288 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72182142-72271059 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 72238621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 646 (K646*)
Ref Sequence ENSEMBL: ENSMUSP00000138970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098576] [ENSMUST00000183410] [ENSMUST00000183801] [ENSMUST00000184019] [ENSMUST00000184036] [ENSMUST00000184517] [ENSMUST00000184053] [ENSMUST00000184399]
AlphaFold Q68FE8
Predicted Effect probably null
Transcript: ENSMUST00000098576
AA Change: K646*
SMART Domains Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535
AA Change: K646*

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 null
Transcript: ENSMUST00000183410
AA Change: K646*
SMART Domains Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
AA Change: K646*

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: ENSMUST00000183459
Predicted Effect probably benign
Transcript: ENSMUST00000183801
SMART Domains Protein: ENSMUSP00000139091
Gene: ENSMUSG00000038535

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 null
Transcript: ENSMUST00000184019
AA Change: K32*
SMART Domains Protein: ENSMUSP00000138994
Gene: ENSMUSG00000038535
AA Change: K32*

DomainStartEndE-ValueType
ZnF_C2H2 42 65 1.23e1 SMART
ZnF_C2H2 88 112 1.34e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184025
Predicted Effect probably null
Transcript: ENSMUST00000184036
AA Change: K621*
SMART Domains Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535
AA Change: K621*

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 null
Transcript: ENSMUST00000184517
AA Change: K646*
SMART Domains Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535
AA Change: K646*

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 noncoding transcript
Transcript: ENSMUST00000184141
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: 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 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.7%
Validation Efficiency 98% (62/63)
Allele List at MGI

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

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,766,568 (GRCm39) E413G possibly damaging Het
Amigo2 G T 15: 97,143,560 (GRCm39) N287K probably damaging Het
Ankle2 T A 5: 110,384,256 (GRCm39) I260K probably damaging Het
Apob C T 12: 8,040,779 (GRCm39) R635* probably null Het
Camkv A G 9: 107,823,555 (GRCm39) Y153C probably damaging Het
Capn9 A G 8: 125,327,230 (GRCm39) probably benign Het
Ces2c A G 8: 105,576,376 (GRCm39) I130V probably benign Het
Cfap44 T A 16: 44,236,257 (GRCm39) probably benign Het
Cfhr3 A G 1: 139,525,425 (GRCm39) noncoding transcript Het
Chmp1a G T 8: 123,934,745 (GRCm39) D70E probably damaging Het
Coil G A 11: 88,872,694 (GRCm39) G352R probably damaging Het
Colq T C 14: 31,265,949 (GRCm39) E188G possibly damaging Het
Cyfip2 A G 11: 46,144,799 (GRCm39) F685S possibly damaging Het
Cyp4f39 A G 17: 32,711,410 (GRCm39) N519S probably benign Het
Dennd1c A T 17: 57,383,870 (GRCm39) probably null Het
Dnah9 A T 11: 65,915,960 (GRCm39) probably null Het
Dnmbp T C 19: 43,890,898 (GRCm39) T290A possibly damaging Het
Dsc2 T C 18: 20,166,177 (GRCm39) D818G probably damaging Het
Gnptab G A 10: 88,268,967 (GRCm39) V557I probably benign Het
Hdac4 A T 1: 91,898,728 (GRCm39) H675Q probably damaging Het
Kcnk3 T C 5: 30,745,764 (GRCm39) M35T probably benign Het
Kif1b A T 4: 149,283,795 (GRCm39) I1290N probably damaging Het
Klhl14 G A 18: 21,698,620 (GRCm39) R398W probably damaging Het
Marveld1 T C 19: 42,136,265 (GRCm39) F60L probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Ndst3 A T 3: 123,465,843 (GRCm39) V43D probably benign Het
Nhsl1 A G 10: 18,399,794 (GRCm39) D306G probably damaging Het
Nlrp2 A G 7: 5,331,544 (GRCm39) V284A probably benign Het
Pcdhb15 T C 18: 37,608,451 (GRCm39) V561A probably damaging Het
Pdcl2 T C 5: 76,460,344 (GRCm39) I177V possibly damaging Het
Pkd1l3 G A 8: 110,373,131 (GRCm39) probably null Het
Pla2g6 A C 15: 79,171,106 (GRCm39) probably benign Het
Plekhj1 A T 10: 80,632,444 (GRCm39) I122N probably damaging Het
Pmel T C 10: 128,550,175 (GRCm39) I70T probably benign Het
Psip1 T C 4: 83,383,196 (GRCm39) D273G probably damaging Het
Rictor A G 15: 6,816,021 (GRCm39) I1098V probably benign Het
Rif1 T C 2: 52,000,025 (GRCm39) S1160P probably damaging Het
Rsbn1l T C 5: 21,125,038 (GRCm39) I255V probably damaging Het
Slc15a5 A G 6: 137,994,914 (GRCm39) probably benign Het
Slc29a1 G A 17: 45,900,730 (GRCm39) R111W probably damaging Het
Slc36a1 G A 11: 55,109,913 (GRCm39) A74T probably damaging Het
Slc5a7 A T 17: 54,600,046 (GRCm39) Y122* probably null Het
Slc6a3 G T 13: 73,709,047 (GRCm39) G324W probably damaging Het
Sltm T C 9: 70,486,633 (GRCm39) S433P probably damaging Het
Spta1 T C 1: 174,070,745 (GRCm39) S2190P probably damaging Het
Sry A T Y: 2,662,818 (GRCm39) F281I unknown Het
Stk32a T A 18: 43,438,060 (GRCm39) probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbl3 G A 17: 24,920,781 (GRCm39) H612Y probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Top2a A G 11: 98,907,249 (GRCm39) probably benign Het
Usp9y A T Y: 1,333,606 (GRCm39) probably benign Het
Vldlr G A 19: 27,218,051 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r28 A G 7: 5,491,020 (GRCm39) L409P probably damaging Het
Vps13c T C 9: 67,834,648 (GRCm39) V1659A probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zfp36 A G 7: 28,077,666 (GRCm39) S81P probably benign Het
Zfp618 A T 4: 63,051,171 (GRCm39) T651S 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
R0419:Zfp280d UTSW 9 72,219,519 (GRCm39) missense probably benign 0.02
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'- TCTGACCCCAGTAAAGCTAATGAGACC -3'
(R):5'- TGTTGCCAGCATCACTGAAAATCCTC -3'

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