Incidental Mutation 'R2269:Zkscan5'
ID 242309
Institutional Source Beutler Lab
Gene Symbol Zkscan5
Ensembl Gene ENSMUSG00000055991
Gene Name zinc finger with KRAB and SCAN domains 5
Synonyms hKraba1, Zfp95
MMRRC Submission 040269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R2269 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 145141372-145158560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145142277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 58 (Y58C)
Ref Sequence ENSEMBL: ENSMUSP00000124838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031601] [ENSMUST00000031632] [ENSMUST00000085671] [ENSMUST00000161896] [ENSMUST00000162220] [ENSMUST00000198959]
AlphaFold Q9Z1D8
Predicted Effect probably damaging
Transcript: ENSMUST00000031601
AA Change: Y58C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991
AA Change: Y58C

DomainStartEndE-ValueType
SCAN 46 155 2.18e-69 SMART
ZnF_C2H2 268 290 3.58e-2 SMART
ZnF_C2H2 296 318 9.73e-4 SMART
ZnF_C2H2 324 346 1.45e-2 SMART
ZnF_C2H2 352 374 1.28e-3 SMART
ZnF_C2H2 467 489 1.82e-3 SMART
ZnF_C2H2 495 517 3.63e-3 SMART
ZnF_C2H2 523 545 7.78e-3 SMART
ZnF_C2H2 551 573 9.73e-4 SMART
ZnF_C2H2 579 601 1.08e-1 SMART
ZnF_C2H2 635 657 1.12e-3 SMART
ZnF_C2H2 691 713 5.14e-3 SMART
ZnF_C2H2 719 741 2.4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031632
SMART Domains Protein: ENSMUSP00000031632
Gene: ENSMUSG00000029627

DomainStartEndE-ValueType
SCAN 40 152 6.65e-65 SMART
KRAB 135 196 2.79e-13 SMART
low complexity region 258 269 N/A INTRINSIC
ZnF_C2H2 327 349 1.58e-3 SMART
ZnF_C2H2 355 377 4.01e-5 SMART
ZnF_C2H2 383 405 1.04e-3 SMART
ZnF_C2H2 411 432 2.82e0 SMART
ZnF_C2H2 438 460 4.54e-4 SMART
ZnF_C2H2 466 488 1.95e-3 SMART
ZnF_C2H2 494 516 1.69e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000085671
AA Change: Y58C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991
AA Change: Y58C

DomainStartEndE-ValueType
SCAN 46 155 2.18e-69 SMART
KRAB 216 276 5.35e-3 SMART
ZnF_C2H2 341 363 3.58e-2 SMART
ZnF_C2H2 369 391 9.73e-4 SMART
ZnF_C2H2 397 419 1.45e-2 SMART
ZnF_C2H2 425 447 1.28e-3 SMART
ZnF_C2H2 540 562 1.82e-3 SMART
ZnF_C2H2 568 590 3.63e-3 SMART
ZnF_C2H2 596 618 7.78e-3 SMART
ZnF_C2H2 624 646 9.73e-4 SMART
ZnF_C2H2 652 674 1.08e-1 SMART
ZnF_C2H2 708 730 1.12e-3 SMART
ZnF_C2H2 764 786 5.14e-3 SMART
ZnF_C2H2 792 814 2.4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160162
Predicted Effect probably benign
Transcript: ENSMUST00000161881
SMART Domains Protein: ENSMUSP00000124544
Gene: ENSMUSG00000055991

DomainStartEndE-ValueType
KRAB 59 118 2.71e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161896
AA Change: Y58C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124838
Gene: ENSMUSG00000055991
AA Change: Y58C

DomainStartEndE-ValueType
SCAN 46 155 1.59e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162168
Predicted Effect probably benign
Transcript: ENSMUST00000162220
SMART Domains Protein: ENSMUSP00000124196
Gene: ENSMUSG00000029627

DomainStartEndE-ValueType
KRAB 1 62 2.79e-13 SMART
low complexity region 124 135 N/A INTRINSIC
ZnF_C2H2 193 215 1.58e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198959
SMART Domains Protein: ENSMUSP00000143630
Gene: ENSMUSG00000029627

DomainStartEndE-ValueType
SCAN 40 143 4.29e-59 SMART
Meta Mutation Damage Score 0.7563 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (79/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Abca8a A C 11: 109,917,718 (GRCm39) F1574V probably damaging Het
Adh6a A T 3: 138,034,857 (GRCm39) I329L probably benign Het
Agap2 T A 10: 126,918,297 (GRCm39) probably benign Het
Ager A T 17: 34,818,124 (GRCm39) I185F probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Arhgef16 T A 4: 154,369,490 (GRCm39) H329L probably damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Banp A G 8: 122,702,662 (GRCm39) T70A probably benign Het
Bcl11b T C 12: 107,881,910 (GRCm39) T802A possibly damaging Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Cflar G A 1: 58,780,206 (GRCm39) probably null Het
Clec16a G A 16: 10,462,650 (GRCm39) R656H probably damaging Het
Cntn1 A G 15: 92,192,863 (GRCm39) probably benign Het
Coasy A G 11: 100,976,708 (GRCm39) T493A probably benign Het
Col16a1 C A 4: 129,946,711 (GRCm39) H111Q probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp3a41b A T 5: 145,514,976 (GRCm39) V83D probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Decr2 C A 17: 26,302,858 (GRCm39) V173L probably benign Het
Defb11 A G 8: 22,395,444 (GRCm39) *78Q probably null Het
Dock3 C A 9: 106,818,525 (GRCm39) V1190F probably damaging Het
Dusp1 A T 17: 26,726,093 (GRCm39) I200N probably damaging Het
Efna1 G A 3: 89,183,646 (GRCm39) A60V possibly damaging Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Epb41 T A 4: 131,691,458 (GRCm39) N623I probably benign Het
Fbxw22 C T 9: 109,213,062 (GRCm39) R295K probably benign Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gbe1 C T 16: 70,233,840 (GRCm39) A239V probably damaging Het
Gpatch3 C T 4: 133,311,118 (GRCm39) A518V possibly damaging Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hnrnpul1 A G 7: 25,450,299 (GRCm39) Y138H probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Klhl31 A G 9: 77,557,440 (GRCm39) D52G possibly damaging Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lrrc43 A T 5: 123,641,354 (GRCm39) T513S probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh5 T C 15: 73,664,997 (GRCm39) N258D probably benign Het
Mrpl28 T C 17: 26,345,285 (GRCm39) V235A probably benign Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or1e23 A G 11: 73,407,309 (GRCm39) S239P probably damaging Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Pkhd1 C T 1: 20,604,759 (GRCm39) probably null Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Pxdn T A 12: 30,055,774 (GRCm39) V1220E probably damaging Het
Robo1 T A 16: 72,775,660 (GRCm39) F728L probably benign Het
Rtel1 G T 2: 180,977,796 (GRCm39) Q292H probably benign Het
Sh3bp4 G A 1: 89,073,314 (GRCm39) V721I possibly damaging Het
Slc2a10 T A 2: 165,356,701 (GRCm39) C120* probably null Het
Srd5a2 T C 17: 74,331,485 (GRCm39) R171G probably damaging Het
Srsf4 T C 4: 131,624,993 (GRCm39) V130A probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbx1 T C 16: 18,400,744 (GRCm39) probably null Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tmem252 T C 19: 24,651,455 (GRCm39) I8T probably benign Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r107 T C 17: 20,595,817 (GRCm39) I790T possibly damaging Het
Vmn2r77 T C 7: 86,460,897 (GRCm39) V741A probably benign Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Ylpm1 T A 12: 85,061,824 (GRCm39) V575E unknown Het
Zbp1 T A 2: 173,060,616 (GRCm39) probably benign Het
Zfp280d C A 9: 72,209,052 (GRCm39) probably benign Het
Other mutations in Zkscan5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03080:Zkscan5 APN 5 145,155,460 (GRCm39) missense probably damaging 0.99
R0401:Zkscan5 UTSW 5 145,149,385 (GRCm39) missense probably damaging 0.99
R0458:Zkscan5 UTSW 5 145,142,281 (GRCm39) missense probably damaging 0.97
R1456:Zkscan5 UTSW 5 145,157,798 (GRCm39) missense probably benign 0.03
R1801:Zkscan5 UTSW 5 145,157,015 (GRCm39) missense probably damaging 1.00
R2426:Zkscan5 UTSW 5 145,157,750 (GRCm39) missense probably benign
R3085:Zkscan5 UTSW 5 145,157,889 (GRCm39) missense probably damaging 1.00
R3153:Zkscan5 UTSW 5 145,149,437 (GRCm39) missense probably benign
R3725:Zkscan5 UTSW 5 145,157,723 (GRCm39) missense probably damaging 0.98
R4479:Zkscan5 UTSW 5 145,147,984 (GRCm39) intron probably benign
R4647:Zkscan5 UTSW 5 145,155,640 (GRCm39) missense possibly damaging 0.71
R5292:Zkscan5 UTSW 5 145,155,451 (GRCm39) missense probably damaging 1.00
R5872:Zkscan5 UTSW 5 145,156,898 (GRCm39) missense probably benign
R5873:Zkscan5 UTSW 5 145,157,204 (GRCm39) missense possibly damaging 0.71
R5916:Zkscan5 UTSW 5 145,142,112 (GRCm39) missense possibly damaging 0.90
R6692:Zkscan5 UTSW 5 145,157,894 (GRCm39) splice site probably null
R7092:Zkscan5 UTSW 5 145,156,899 (GRCm39) missense probably benign
R7114:Zkscan5 UTSW 5 145,147,988 (GRCm39) intron probably benign
R7403:Zkscan5 UTSW 5 145,155,403 (GRCm39) missense probably benign 0.31
R7719:Zkscan5 UTSW 5 145,157,676 (GRCm39) missense probably damaging 1.00
R7741:Zkscan5 UTSW 5 145,157,847 (GRCm39) missense possibly damaging 0.51
R7751:Zkscan5 UTSW 5 145,157,676 (GRCm39) missense probably damaging 1.00
R7829:Zkscan5 UTSW 5 145,155,513 (GRCm39) nonsense probably null
R7874:Zkscan5 UTSW 5 145,157,676 (GRCm39) missense probably damaging 1.00
R7875:Zkscan5 UTSW 5 145,157,676 (GRCm39) missense probably damaging 1.00
R7876:Zkscan5 UTSW 5 145,157,676 (GRCm39) missense probably damaging 1.00
R7879:Zkscan5 UTSW 5 145,157,676 (GRCm39) missense probably damaging 1.00
R7884:Zkscan5 UTSW 5 145,157,676 (GRCm39) missense probably damaging 1.00
R7899:Zkscan5 UTSW 5 145,157,676 (GRCm39) missense probably damaging 1.00
R7902:Zkscan5 UTSW 5 145,157,676 (GRCm39) missense probably damaging 1.00
R7974:Zkscan5 UTSW 5 145,144,502 (GRCm39) missense unknown
R8729:Zkscan5 UTSW 5 145,157,071 (GRCm39) missense probably benign 0.01
R8778:Zkscan5 UTSW 5 145,155,142 (GRCm39) missense probably benign 0.12
R9569:Zkscan5 UTSW 5 145,144,419 (GRCm39) missense probably benign 0.03
R9669:Zkscan5 UTSW 5 145,142,136 (GRCm39) missense probably benign 0.07
R9737:Zkscan5 UTSW 5 145,142,136 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GTGTAACGGGCTAGAGTCTAG -3'
(R):5'- ATACTCTCTATCACAGCCACGG -3'

Sequencing Primer
(F):5'- TCTAGAGACTCTTCAGTTGGAATG -3'
(R):5'- CCCACTCTCGGGGTGATG -3'
Posted On 2014-10-16