Incidental Mutation 'R0112:Zfp811'
ID 20554
Institutional Source Beutler Lab
Gene Symbol Zfp811
Ensembl Gene ENSMUSG00000055202
Gene Name zinc finger protein 811
Synonyms
MMRRC Submission 038398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R0112 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 33014650-33028905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33016738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 434 (R434Q)
Ref Sequence ENSEMBL: ENSMUSP00000144038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080905] [ENSMUST00000200914]
AlphaFold A0A0J9YU71
Predicted Effect possibly damaging
Transcript: ENSMUST00000080905
AA Change: R433Q

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079709
Gene: ENSMUSG00000055202
AA Change: R433Q

DomainStartEndE-ValueType
KRAB 3 62 6.26e-16 SMART
ZnF_C2H2 192 215 1.25e-1 SMART
ZnF_C2H2 220 242 1.79e-2 SMART
ZnF_C2H2 248 270 9.08e-4 SMART
ZnF_C2H2 276 298 7.78e-3 SMART
ZnF_C2H2 304 326 3.69e-4 SMART
ZnF_C2H2 332 354 8.47e-4 SMART
ZnF_C2H2 360 382 1.45e-2 SMART
ZnF_C2H2 388 410 6.42e-4 SMART
ZnF_C2H2 416 438 5.9e-3 SMART
ZnF_C2H2 444 466 1.08e-1 SMART
ZnF_C2H2 472 494 2.75e-3 SMART
ZnF_C2H2 500 522 9.44e-2 SMART
ZnF_C2H2 528 551 3.89e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104150
Predicted Effect probably damaging
Transcript: ENSMUST00000200914
AA Change: R434Q

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144038
Gene: ENSMUSG00000055202
AA Change: R434Q

DomainStartEndE-ValueType
KRAB 4 63 2.6e-18 SMART
ZnF_C2H2 193 216 5.4e-4 SMART
ZnF_C2H2 221 243 7.8e-5 SMART
ZnF_C2H2 249 271 3.8e-6 SMART
ZnF_C2H2 277 299 3.3e-5 SMART
ZnF_C2H2 305 327 1.6e-6 SMART
ZnF_C2H2 333 355 3.8e-6 SMART
ZnF_C2H2 361 383 6.1e-5 SMART
ZnF_C2H2 389 411 2.7e-6 SMART
ZnF_C2H2 417 439 2.5e-5 SMART
ZnF_C2H2 445 467 4.6e-4 SMART
ZnF_C2H2 473 495 1.2e-5 SMART
ZnF_C2H2 501 523 4e-4 SMART
ZnF_C2H2 529 552 1.7e-5 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (86/86)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,815 (GRCm39) Y179F probably benign Het
Abcd4 A G 12: 84,659,673 (GRCm39) probably benign Het
Abhd12b C T 12: 70,227,791 (GRCm39) T191M probably benign Het
Adcy5 A G 16: 34,976,548 (GRCm39) E27G possibly damaging Het
Adgb G A 10: 10,282,902 (GRCm39) probably benign Het
Afdn T C 17: 14,104,899 (GRCm39) S1186P probably damaging Het
Atf6b G T 17: 34,870,600 (GRCm39) R351L probably damaging Het
Axin2 T C 11: 108,830,223 (GRCm39) S348P possibly damaging Het
Bfsp1 A C 2: 143,669,563 (GRCm39) probably null Het
Brd1 A G 15: 88,614,586 (GRCm39) V103A probably benign Het
Ccdc13 C A 9: 121,642,547 (GRCm39) K392N probably damaging Het
Ccdc18 A G 5: 108,321,627 (GRCm39) K577R probably damaging Het
Csmd2 G T 4: 128,389,822 (GRCm39) G2186C probably damaging Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
Defb3 T A 8: 19,343,423 (GRCm39) L12Q probably null Het
Defb7 G T 8: 19,545,186 (GRCm39) probably null Het
Dhx35 T A 2: 158,682,540 (GRCm39) M491K probably damaging Het
Dnah17 T C 11: 117,965,260 (GRCm39) S2261G possibly damaging Het
Dnah5 A C 15: 28,263,825 (GRCm39) E853D probably benign Het
Dner C A 1: 84,560,774 (GRCm39) A23S probably benign Het
Dock5 A C 14: 68,057,090 (GRCm39) S539A probably benign Het
Dsg2 T A 18: 20,716,099 (GRCm39) F317I probably benign Het
Enox1 A T 14: 77,936,638 (GRCm39) I539F possibly damaging Het
Eogt G A 6: 97,112,245 (GRCm39) probably benign Het
Fbxo22 A G 9: 55,130,630 (GRCm39) T300A probably benign Het
Fes T C 7: 80,033,753 (GRCm39) D166G probably damaging Het
Fn1 A G 1: 71,648,812 (GRCm39) S1366P probably damaging Het
Fndc3a A T 14: 72,777,935 (GRCm39) probably benign Het
Foxh1 T C 15: 76,553,210 (GRCm39) H168R probably benign Het
Galnt14 T G 17: 73,881,979 (GRCm39) probably benign Het
Gdf6 A G 4: 9,844,482 (GRCm39) D2G probably damaging Het
Gp6 C A 7: 4,373,183 (GRCm39) A247S probably benign Het
Gp6 G C 7: 4,374,626 (GRCm39) P232A probably benign Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Gtf2h4 T C 17: 35,981,340 (GRCm39) T198A possibly damaging Het
Helz T C 11: 107,563,774 (GRCm39) probably benign Het
Htr1d A G 4: 136,170,311 (GRCm39) E180G probably benign Het
Igsf10 A G 3: 59,233,429 (GRCm39) V1768A probably benign Het
Ints10 A T 8: 69,279,954 (GRCm39) T694S probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lipc T A 9: 70,727,709 (GRCm39) Y131F probably damaging Het
Litaf G T 16: 10,784,375 (GRCm39) T45K probably damaging Het
Lmo7 A T 14: 102,124,629 (GRCm39) R363* probably null Het
Lrrc37a A T 11: 103,391,739 (GRCm39) Y1229N probably benign Het
Man2a2 C T 7: 80,008,024 (GRCm39) A943T probably damaging Het
Mtor A G 4: 148,565,380 (GRCm39) Y1030C probably damaging Het
Naalad2 G T 9: 18,262,743 (GRCm39) Y384* probably null Het
Nat2 C T 8: 67,954,378 (GRCm39) Q163* probably null Het
Nell2 A G 15: 95,329,562 (GRCm39) probably benign Het
Nphp3 C T 9: 103,914,547 (GRCm39) H102Y possibly damaging Het
Olr1 T C 6: 129,465,869 (GRCm39) S46G possibly damaging Het
Or2y13 A T 11: 49,414,961 (GRCm39) H137L possibly damaging Het
Or52x1 A T 7: 104,852,866 (GRCm39) M228K probably benign Het
Or5b94 C T 19: 12,652,121 (GRCm39) T184I probably benign Het
Parg C A 14: 31,924,390 (GRCm39) A63E probably damaging Het
Pik3cg A G 12: 32,245,714 (GRCm39) probably benign Het
Ripk4 A G 16: 97,544,761 (GRCm39) C629R probably benign Het
Rnf145 A G 11: 44,454,978 (GRCm39) T620A probably benign Het
Rskr T C 11: 78,182,507 (GRCm39) probably benign Het
Samd9l T G 6: 3,376,031 (GRCm39) D410A possibly damaging Het
Serpinb9f A T 13: 33,511,934 (GRCm39) probably benign Het
Slc19a1 T C 10: 76,877,999 (GRCm39) I178T probably benign Het
Slco1b2 A T 6: 141,616,837 (GRCm39) Y390F probably benign Het
Speg A G 1: 75,361,676 (GRCm39) E230G possibly damaging Het
Tbc1d9 C A 8: 83,991,466 (GRCm39) probably benign Het
Tmem131l G A 3: 83,847,894 (GRCm39) Q324* probably null Het
Trf A G 9: 103,104,155 (GRCm39) probably benign Het
Trp53 T G 11: 69,479,505 (GRCm39) Y202D probably damaging Het
Trpv1 T A 11: 73,144,098 (GRCm39) M618K probably damaging Het
Trrap C A 5: 144,759,571 (GRCm39) Y2250* probably null Het
Ttc3 A G 16: 94,186,181 (GRCm39) probably benign Het
Ubtfl1 T G 9: 18,321,083 (GRCm39) S204A probably benign Het
Uck2 A T 1: 167,055,340 (GRCm39) Y203N probably damaging Het
Utrn A T 10: 12,562,209 (GRCm39) L1280* probably null Het
Vmn1r178 A T 7: 23,593,609 (GRCm39) H146L possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r108 T C 17: 20,691,897 (GRCm39) M209V probably benign Het
Vmn2r9 G A 5: 108,990,991 (GRCm39) T790I probably damaging Het
Vmn2r94 C A 17: 18,463,866 (GRCm39) R808L probably benign Het
Zbtb7c A T 18: 76,269,962 (GRCm39) S17C probably damaging Het
Zkscan6 A T 11: 65,705,689 (GRCm39) probably benign Het
Other mutations in Zfp811
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Zfp811 APN 17 33,016,794 (GRCm39) missense probably damaging 1.00
IGL02227:Zfp811 APN 17 33,017,616 (GRCm39) nonsense probably null
IGL02529:Zfp811 APN 17 33,016,789 (GRCm39) missense probably damaging 1.00
IGL03190:Zfp811 APN 17 33,017,855 (GRCm39) splice site probably benign
R1025:Zfp811 UTSW 17 33,017,618 (GRCm39) missense probably benign 0.00
R1522:Zfp811 UTSW 17 33,016,622 (GRCm39) missense probably damaging 1.00
R1829:Zfp811 UTSW 17 33,017,116 (GRCm39) missense possibly damaging 0.72
R1861:Zfp811 UTSW 17 33,016,399 (GRCm39) missense probably damaging 1.00
R2181:Zfp811 UTSW 17 33,016,695 (GRCm39) missense probably damaging 0.96
R4360:Zfp811 UTSW 17 33,017,432 (GRCm39) missense probably benign 0.01
R4425:Zfp811 UTSW 17 33,016,521 (GRCm39) nonsense probably null
R4657:Zfp811 UTSW 17 33,019,897 (GRCm39) nonsense probably null
R6066:Zfp811 UTSW 17 33,017,801 (GRCm39) missense possibly damaging 0.73
R6109:Zfp811 UTSW 17 33,016,348 (GRCm39) splice site probably null
R6702:Zfp811 UTSW 17 33,016,816 (GRCm39) missense probably damaging 1.00
R6714:Zfp811 UTSW 17 33,016,736 (GRCm39) missense probably damaging 1.00
R6826:Zfp811 UTSW 17 33,016,762 (GRCm39) missense probably damaging 1.00
R6983:Zfp811 UTSW 17 33,016,406 (GRCm39) nonsense probably null
R7276:Zfp811 UTSW 17 33,017,755 (GRCm39) missense probably benign 0.00
R7343:Zfp811 UTSW 17 33,016,487 (GRCm39) missense probably damaging 0.98
R7432:Zfp811 UTSW 17 33,017,733 (GRCm39) missense possibly damaging 0.73
R7523:Zfp811 UTSW 17 33,016,726 (GRCm39) missense probably benign 0.10
R7894:Zfp811 UTSW 17 33,017,821 (GRCm39) missense possibly damaging 0.85
R8737:Zfp811 UTSW 17 33,017,197 (GRCm39) missense possibly damaging 0.92
R8962:Zfp811 UTSW 17 33,017,622 (GRCm39) missense probably benign
R8987:Zfp811 UTSW 17 33,017,801 (GRCm39) missense possibly damaging 0.53
R9612:Zfp811 UTSW 17 33,017,740 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- GACTAAGAGACCGAAAGCCTTTCCC -3'
(R):5'- TCACAGCGGTGTGAATCCCTTTG -3'

Sequencing Primer
(F):5'- gccacattgcttacagacac -3'
(R):5'- GTGAGAAGCCCTATGTGTGT -3'
Posted On 2013-04-11