Incidental Mutation 'R1055:Zfp280d'
ID 94281
Institutional Source Beutler Lab
Gene Symbol Zfp280d
Ensembl Gene ENSMUSG00000038535
Gene Name zinc finger protein 280D
Synonyms Suhw4
MMRRC Submission 039145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R1055 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72182142-72271059 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 72236449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098576] [ENSMUST00000183410] [ENSMUST00000183410] [ENSMUST00000183801] [ENSMUST00000184019] [ENSMUST00000184036] [ENSMUST00000184036] [ENSMUST00000184053] [ENSMUST00000184399] [ENSMUST00000184517]
AlphaFold Q68FE8
Predicted Effect probably null
Transcript: ENSMUST00000098576
SMART Domains Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535

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
SMART Domains Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535

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 probably null
Transcript: ENSMUST00000183410
SMART Domains Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535

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 benign
Transcript: ENSMUST00000184019
SMART Domains Protein: ENSMUSP00000138994
Gene: ENSMUSG00000038535

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
SMART Domains Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535

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: ENSMUST00000184036
SMART Domains Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535

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 noncoding transcript
Transcript: ENSMUST00000184141
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
Predicted Effect probably null
Transcript: ENSMUST00000184517
SMART Domains Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.3%
  • 20x: 87.5%
Validation Efficiency 100% (58/58)
Allele List at MGI

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

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 64,210,724 (GRCm39) V168A possibly damaging Het
A1cf C A 19: 31,909,919 (GRCm39) T237N probably benign Het
Actl10 A T 2: 154,394,588 (GRCm39) Q180L probably benign Het
Adcy1 T C 11: 7,059,075 (GRCm39) L327P probably damaging Het
Adcy7 T C 8: 89,044,685 (GRCm39) probably benign Het
Ahctf1 G A 1: 179,591,051 (GRCm39) T1243I possibly damaging Het
Akap6 C T 12: 52,927,455 (GRCm39) Q122* probably null Het
Apob G A 12: 8,044,963 (GRCm39) G861D probably damaging Het
Arhgef11 A C 3: 87,624,425 (GRCm39) T539P probably benign Het
Cd244a T A 1: 171,404,844 (GRCm39) V232E probably damaging Het
Chia1 A C 3: 106,038,199 (GRCm39) D365A probably damaging Het
Clpsl2 C T 17: 28,768,500 (GRCm39) Q5* probably null Het
Clrn1 T A 3: 58,772,531 (GRCm39) I117F probably benign Het
Csmd3 A G 15: 47,744,933 (GRCm39) L1354P probably damaging Het
Csn2 G A 5: 87,842,596 (GRCm39) P144S possibly damaging Het
Dcdc2a T A 13: 25,286,593 (GRCm39) M172K probably damaging Het
Dnah9 A T 11: 66,050,837 (GRCm39) W152R probably damaging Het
Dnmt3a T A 12: 3,922,864 (GRCm39) S82T probably benign Het
Ebf1 A G 11: 44,523,602 (GRCm39) K146E probably damaging Het
Gfpt2 A C 11: 49,718,038 (GRCm39) R504S probably damaging Het
Gpank1 T A 17: 35,343,284 (GRCm39) S255T probably damaging Het
Greb1 T C 12: 16,732,252 (GRCm39) M1570V probably damaging Het
Gtf2i A T 5: 134,292,478 (GRCm39) I403K probably damaging Het
Hoxc11 T A 15: 102,863,270 (GRCm39) C104S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ilrun T C 17: 27,986,910 (GRCm39) N272S probably damaging Het
Khdrbs2 A T 1: 32,683,238 (GRCm39) probably benign Het
Lix1l G T 3: 96,528,626 (GRCm39) G200V probably damaging Het
Lrrc23 T C 6: 124,755,114 (GRCm39) N141S probably damaging Het
Marchf11 A T 15: 26,309,748 (GRCm39) D134V probably damaging Het
Myo9a A T 9: 59,762,653 (GRCm39) T795S probably benign Het
Nhsl1 T A 10: 18,401,223 (GRCm39) D782E probably benign Het
Nptxr T C 15: 79,674,456 (GRCm39) probably benign Het
Nrp1 A G 8: 129,195,079 (GRCm39) M512V possibly damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or12e7 ATTGCTACTC A 2: 87,287,781 (GRCm39) probably benign Het
Or5b3 G A 19: 13,388,754 (GRCm39) A274T probably benign Het
Pard3 T C 8: 128,104,761 (GRCm39) F267S probably benign Het
Pomt2 G A 12: 87,194,254 (GRCm39) T50M possibly damaging Het
Qsox2 A G 2: 26,104,137 (GRCm39) Y298H probably damaging Het
Rabgap1 A G 2: 37,382,080 (GRCm39) K450E possibly damaging Het
Rpa1 A T 11: 75,193,558 (GRCm39) V591D probably damaging Het
Sall3 A C 18: 81,013,007 (GRCm39) M1143R probably benign Het
Scgb1b19 G T 7: 32,986,768 (GRCm39) A13S unknown Het
Scn1a T C 2: 66,168,340 (GRCm39) T89A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sdr42e1 T G 8: 118,390,323 (GRCm39) N106T probably damaging Het
Shpk A T 11: 73,105,945 (GRCm39) M266L probably benign Het
Slc34a1 G T 13: 55,550,846 (GRCm39) R139L probably benign Het
Smbd1 C A 16: 32,627,088 (GRCm39) D67Y probably damaging Het
Srd5a3 A G 5: 76,301,485 (GRCm39) N238S probably benign Het
Tmprss2 T C 16: 97,377,462 (GRCm39) N212D probably damaging Het
Uap1 G T 1: 169,984,480 (GRCm39) probably benign Het
Ugt1a6a A G 1: 88,066,736 (GRCm39) M181V probably benign Het
Vmn2r32 C T 7: 7,477,326 (GRCm39) W355* probably null Het
Vmn2r86 T A 10: 130,282,226 (GRCm39) S797C probably damaging Het
Wiz A G 17: 32,606,616 (GRCm39) S40P probably damaging Het
Zfand6 A G 7: 84,265,181 (GRCm39) probably benign 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
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
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'- ACCAGGTCTTTAAGCACTTGGCTTATAAAT -3'
(R):5'- GGAATACATCCAACACAGAACTCAAAACAC -3'

Sequencing Primer
(F):5'- ccagtgaccatttcttcaacc -3'
(R):5'- CAGAACTCAAAACACGCTTTTC -3'
Posted On 2014-01-05