Incidental Mutation 'R4289:Zfp748'
ID 322350
Institutional Source Beutler Lab
Gene Symbol Zfp748
Ensembl Gene ENSMUSG00000095432
Gene Name zinc finger protein 748
Synonyms KRAB-O, mszf54, Zfp208, 2610014M12Rik
MMRRC Submission 041654-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R4289 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 67686758-67701257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67689202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 686 (H686L)
Ref Sequence ENSEMBL: ENSMUSP00000137928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000181892]
AlphaFold Q7TPL6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000053289
SMART Domains Protein: ENSMUSP00000080439
Gene: ENSMUSG00000095432

DomainStartEndE-ValueType
KRAB 5 65 3.39e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000181892
AA Change: H686L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137928
Gene: ENSMUSG00000095432
AA Change: H686L

DomainStartEndE-ValueType
KRAB 5 65 3.39e-35 SMART
ZnF_C2H2 81 101 1.59e1 SMART
low complexity region 133 144 N/A INTRINSIC
ZnF_C2H2 165 187 5.14e-3 SMART
ZnF_C2H2 193 215 2.71e-2 SMART
ZnF_C2H2 277 298 7.37e1 SMART
ZnF_C2H2 304 326 1.95e-3 SMART
ZnF_C2H2 332 354 8.94e-3 SMART
ZnF_C2H2 360 382 2.61e-4 SMART
ZnF_C2H2 388 410 5.9e-3 SMART
ZnF_C2H2 416 438 3.44e-4 SMART
ZnF_C2H2 444 466 3.89e-3 SMART
ZnF_C2H2 472 494 4.79e-3 SMART
ZnF_C2H2 500 522 1.6e-4 SMART
ZnF_C2H2 528 550 1.18e-2 SMART
ZnF_C2H2 556 578 1.12e-3 SMART
ZnF_C2H2 584 606 3.89e-3 SMART
ZnF_C2H2 612 634 2.95e-3 SMART
ZnF_C2H2 640 662 1.6e-4 SMART
ZnF_C2H2 668 690 2.95e-3 SMART
ZnF_C2H2 696 718 2.12e-4 SMART
ZnF_C2H2 724 746 4.47e-3 SMART
ZnF_C2H2 752 774 1.12e-3 SMART
ZnF_C2H2 780 802 3.89e-3 SMART
ZnF_C2H2 808 830 1.47e-3 SMART
ZnF_C2H2 836 858 4.87e-4 SMART
ZnF_C2H2 864 886 7.9e-4 SMART
Meta Mutation Damage Score 0.4999 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a C T 3: 32,766,263 (GRCm39) T39M possibly damaging Het
Arhgdib T C 6: 136,901,156 (GRCm39) N191S probably benign Het
Arhgef39 A G 4: 43,497,353 (GRCm39) probably benign Het
Baz1a G A 12: 54,947,233 (GRCm39) R1139C probably damaging Het
Cdhr5 A T 7: 140,852,752 (GRCm39) I78N probably damaging Het
Cfap97 T A 8: 46,645,698 (GRCm39) N525K probably benign Het
Cntn2 T A 1: 132,455,481 (GRCm39) Y252F probably benign Het
Cyp3a57 G A 5: 145,286,207 (GRCm39) G48S probably damaging Het
Cyp4v3 A C 8: 45,781,260 (GRCm39) F73V possibly damaging Het
Ear10 T C 14: 44,160,404 (GRCm39) D141G probably benign Het
Fbn2 T C 18: 58,168,411 (GRCm39) I2309V probably damaging Het
Fcrl5 A G 3: 87,349,531 (GRCm39) D102G probably benign Het
Fdxacb1 A T 9: 50,683,879 (GRCm39) Q614L probably damaging Het
Gm10267 T C 18: 44,290,331 (GRCm39) T59A probably damaging Het
Gm5581 C T 6: 131,144,519 (GRCm39) noncoding transcript Het
Gm5592 G T 7: 40,808,336 (GRCm39) probably benign Het
Gtf2a1l A G 17: 89,001,884 (GRCm39) T200A probably damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ift122 T C 6: 115,900,852 (GRCm39) C1057R probably damaging Het
Kirrel3 A T 9: 34,934,769 (GRCm39) N73I probably benign Het
Kndc1 A G 7: 139,490,798 (GRCm39) I433M probably benign Het
Mks1 T C 11: 87,747,530 (GRCm39) probably benign Het
Mmp14 A T 14: 54,673,665 (GRCm39) K110* probably null Het
Mms19 A G 19: 41,933,992 (GRCm39) L938P probably damaging Het
Mrpl36 A T 13: 73,479,777 (GRCm39) probably null Het
Mypn T C 10: 62,966,961 (GRCm39) E905G probably damaging Het
Ncam1 G T 9: 49,468,472 (GRCm39) T329N probably damaging Het
Nfkbie T C 17: 45,869,516 (GRCm39) L157P probably damaging Het
Or14c45 T A 7: 86,176,262 (GRCm39) I99N probably damaging Het
Or4f47 T A 2: 111,972,319 (GRCm39) S10T probably benign Het
Pappa C T 4: 65,074,100 (GRCm39) A218V probably benign Het
Plekhg5 T C 4: 152,196,884 (GRCm39) Y737H probably benign Het
Plod2 G A 9: 92,485,041 (GRCm39) R514Q possibly damaging Het
Plxnb1 C T 9: 108,943,420 (GRCm39) R1888W probably damaging Het
Prss45 A G 9: 110,669,997 (GRCm39) T269A probably benign Het
Ptpn13 A G 5: 103,681,151 (GRCm39) T784A probably damaging Het
Pycr3 T C 15: 75,790,655 (GRCm39) N68S probably benign Het
Rbis T C 3: 14,674,714 (GRCm39) M1V probably null Het
Rdh14 A T 12: 10,444,949 (GRCm39) N267Y probably benign Het
Rph3a G A 5: 121,111,368 (GRCm39) R71C probably damaging Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Spata13 T A 14: 60,928,523 (GRCm39) V27E probably damaging Het
Tbc1d1 T A 5: 64,417,771 (GRCm39) S312T probably damaging Het
Tcp11l2 T C 10: 84,440,937 (GRCm39) probably null Het
Trdn C T 10: 33,340,578 (GRCm39) S604L probably benign Het
Ttn T C 2: 76,640,742 (GRCm39) T13669A probably benign Het
Tyw3 A T 3: 154,302,645 (GRCm39) F30I probably damaging Het
Vmn1r227 G T 17: 20,956,092 (GRCm39) noncoding transcript Het
Vmn2r74 C T 7: 85,606,562 (GRCm39) M261I probably benign Het
Zfp217 C T 2: 169,956,707 (GRCm39) G764S probably benign Het
Zfp267 A G 3: 36,213,747 (GRCm39) N27S possibly damaging Het
Other mutations in Zfp748
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02366:Zfp748 APN 13 67,693,546 (GRCm39) splice site probably benign
R0440:Zfp748 UTSW 13 67,701,144 (GRCm39) splice site probably null
R0790:Zfp748 UTSW 13 67,693,481 (GRCm39) missense probably benign 0.03
R1760:Zfp748 UTSW 13 67,693,540 (GRCm39) critical splice acceptor site probably null
R2520:Zfp748 UTSW 13 67,694,781 (GRCm39) missense possibly damaging 0.84
R3711:Zfp748 UTSW 13 67,688,915 (GRCm39) missense probably damaging 1.00
R4157:Zfp748 UTSW 13 67,690,225 (GRCm39) missense possibly damaging 0.80
R4288:Zfp748 UTSW 13 67,689,202 (GRCm39) missense probably damaging 1.00
R5091:Zfp748 UTSW 13 67,689,638 (GRCm39) missense probably damaging 1.00
R5441:Zfp748 UTSW 13 67,688,737 (GRCm39) missense probably damaging 1.00
R5686:Zfp748 UTSW 13 67,690,647 (GRCm39) nonsense probably null
R5907:Zfp748 UTSW 13 67,689,292 (GRCm39) missense possibly damaging 0.87
R6210:Zfp748 UTSW 13 67,688,923 (GRCm39) missense possibly damaging 0.85
R6268:Zfp748 UTSW 13 67,690,705 (GRCm39) missense possibly damaging 0.77
R6639:Zfp748 UTSW 13 67,691,024 (GRCm39) missense probably damaging 1.00
R6810:Zfp748 UTSW 13 67,689,844 (GRCm39) missense probably damaging 1.00
R7148:Zfp748 UTSW 13 67,690,358 (GRCm39) missense possibly damaging 0.96
R7464:Zfp748 UTSW 13 67,690,091 (GRCm39) missense probably damaging 1.00
R7593:Zfp748 UTSW 13 67,690,638 (GRCm39) missense probably benign 0.20
R7644:Zfp748 UTSW 13 67,689,568 (GRCm39) missense probably damaging 0.99
R7799:Zfp748 UTSW 13 67,689,608 (GRCm39) missense probably benign 0.02
R8872:Zfp748 UTSW 13 67,689,914 (GRCm39) missense probably damaging 1.00
R9140:Zfp748 UTSW 13 67,689,073 (GRCm39) missense probably damaging 1.00
R9402:Zfp748 UTSW 13 67,693,511 (GRCm39) missense probably benign 0.33
R9649:Zfp748 UTSW 13 67,690,647 (GRCm39) nonsense probably null
R9687:Zfp748 UTSW 13 67,690,471 (GRCm39) missense probably benign 0.00
R9749:Zfp748 UTSW 13 67,690,573 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCCCAGTATGACCTAATTTGTG -3'
(R):5'- TCACACTGGGGAGAAACCTTA -3'

Sequencing Primer
(F):5'- CCCAGTATGACCTAATTTGTGCTGAG -3'
(R):5'- GGAACACCTAGCAATTCATTCTGG -3'
Posted On 2015-06-20