Incidental Mutation 'R6210:Zfp748'
ID 503419
Institutional Source Beutler Lab
Gene Symbol Zfp748
Ensembl Gene ENSMUSG00000095432
Gene Name zinc finger protein 748
Synonyms KRAB-O, mszf54, Zfp208, 2610014M12Rik
MMRRC Submission 044344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6210 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 67686758-67701257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67688923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 779 (P779L)
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 possibly damaging
Transcript: ENSMUST00000181892
AA Change: P779L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137928
Gene: ENSMUSG00000095432
AA Change: P779L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T A 18: 10,706,032 (GRCm39) I94F probably damaging Het
Bbox1 A T 2: 110,100,422 (GRCm39) D258E probably benign Het
Catsperb A G 12: 101,378,827 (GRCm39) probably null Het
Ccdc127 T C 13: 74,505,040 (GRCm39) V196A probably benign Het
Cd101 A T 3: 100,925,959 (GRCm39) D253E probably damaging Het
Ceacam15 T C 7: 16,407,214 (GRCm39) Y101C probably damaging Het
Cep135 C T 5: 76,772,570 (GRCm39) L652F probably benign Het
Col5a1 G T 2: 27,922,633 (GRCm39) V234L probably benign Het
Cxcr6 T C 9: 123,639,073 (GRCm39) S25P possibly damaging Het
Dctn4 C T 18: 60,679,865 (GRCm39) Q258* probably null Het
Fmnl2 A T 2: 53,020,457 (GRCm39) N1067I possibly damaging Het
Frrs1 A T 3: 116,672,080 (GRCm39) K59N probably benign Het
Gpr157 T C 4: 150,186,055 (GRCm39) Y206H probably damaging Het
Hephl1 A G 9: 15,001,860 (GRCm39) Y161H possibly damaging Het
Hinfp C T 9: 44,210,169 (GRCm39) probably null Het
Igf2r A T 17: 12,933,838 (GRCm39) N805K probably damaging Het
Ilrun A T 17: 27,986,960 (GRCm39) D255E probably benign Het
Itga3 T C 11: 94,959,717 (GRCm39) probably benign Het
Itga6 A G 2: 71,664,351 (GRCm39) probably null Het
Kcnip1 G A 11: 33,595,600 (GRCm39) T30I possibly damaging Het
Lig4 T C 8: 10,021,585 (GRCm39) T732A probably benign Het
Lmod3 T A 6: 97,224,262 (GRCm39) T520S probably damaging Het
Megf8 G A 7: 25,043,145 (GRCm39) V1356I possibly damaging Het
Mical3 C T 6: 121,017,478 (GRCm39) probably null Het
Msi1 T C 5: 115,573,535 (GRCm39) I8T probably damaging Het
Mug4-ps A T 6: 121,927,276 (GRCm39) noncoding transcript Het
Myo1f T A 17: 33,820,044 (GRCm39) I783N probably damaging Het
Nr6a1 A C 2: 38,619,509 (GRCm39) I462S probably damaging Het
Or2t48 C T 11: 58,420,090 (GRCm39) A241T probably damaging Het
Or8k23 A G 2: 86,186,702 (GRCm39) V8A probably benign Het
Pah C A 10: 87,419,423 (GRCm39) Q449K probably benign Het
Pced1a A G 2: 130,263,839 (GRCm39) V271A probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Psg21 A G 7: 18,386,270 (GRCm39) Y239H probably damaging Het
Ptprt T C 2: 162,109,949 (GRCm39) Y180C probably damaging Het
Raet1d T A 10: 22,246,849 (GRCm39) I59N probably damaging Het
Rfx1 T C 8: 84,819,647 (GRCm39) L653P probably damaging Het
Rnase2a A G 14: 51,493,131 (GRCm39) V78A possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Serbp1 T C 6: 67,249,851 (GRCm39) probably benign Het
Tlr1 A T 5: 65,082,629 (GRCm39) H649Q probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 T A 9: 8,656,731 (GRCm39) D719E probably benign Het
Ttc21b A T 2: 66,066,698 (GRCm39) S318R probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Uhmk1 T C 1: 170,039,806 (GRCm39) Q187R probably damaging Het
Ung C T 5: 114,269,438 (GRCm39) A50V probably benign Het
Upk3bl C T 5: 136,088,674 (GRCm39) Q103* probably null Het
Usp17le C A 7: 104,418,350 (GRCm39) C264F probably damaging Het
Vmn2r105 T A 17: 20,448,758 (GRCm39) N140Y probably damaging Het
Vmn2r84 C T 10: 130,222,114 (GRCm39) C702Y probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign 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
R4289: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
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'- CTTTGATGCTCCTTAAGTCGAGAAG -3'
(R):5'- CTCAAGAGAATCCTTACAAGTGTG -3'

Sequencing Primer
(F):5'- ACACTCTTCACACTTGTAGGG -3'
(R):5'- CCTTACAAGTGTGAAATATGTGGC -3'
Posted On 2018-02-27