Incidental Mutation 'R7263:Zfp800'
ID564744
Institutional Source Beutler Lab
Gene Symbol Zfp800
Ensembl Gene ENSMUSG00000039841
Gene Namezinc finger protein 800
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.661) question?
Stock #R7263 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location28239927-28398005 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 28243663 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 434 (H434Q)
Ref Sequence ENSEMBL: ENSMUSP00000039222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035930] [ENSMUST00000115320] [ENSMUST00000115321] [ENSMUST00000123098] [ENSMUST00000155494]
Predicted Effect probably benign
Transcript: ENSMUST00000035930
AA Change: H434Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000039222
Gene: ENSMUSG00000039841
AA Change: H434Q

DomainStartEndE-ValueType
ZnF_C2H2 69 89 8.18e1 SMART
low complexity region 203 217 N/A INTRINSIC
ZnF_C2H2 231 254 3.83e-2 SMART
ZnF_C2H2 288 311 1.76e-1 SMART
ZnF_C2H2 359 382 1.76e-1 SMART
low complexity region 455 469 N/A INTRINSIC
ZnF_C2H2 484 506 2.36e-2 SMART
ZnF_C2H2 517 540 5.14e-3 SMART
ZnF_C2H2 616 638 1.67e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115320
AA Change: H434Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000110975
Gene: ENSMUSG00000039841
AA Change: H434Q

DomainStartEndE-ValueType
ZnF_C2H2 69 89 8.18e1 SMART
low complexity region 203 217 N/A INTRINSIC
ZnF_C2H2 231 254 3.83e-2 SMART
ZnF_C2H2 288 311 1.76e-1 SMART
ZnF_C2H2 359 382 1.76e-1 SMART
Pfam:zf-C2H2_assoc2 391 483 2.9e-38 PFAM
ZnF_C2H2 484 506 2.36e-2 SMART
ZnF_C2H2 517 540 5.14e-3 SMART
ZnF_C2H2 616 638 1.67e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115321
AA Change: H434Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000110976
Gene: ENSMUSG00000039841
AA Change: H434Q

DomainStartEndE-ValueType
ZnF_C2H2 69 89 8.18e1 SMART
low complexity region 203 217 N/A INTRINSIC
ZnF_C2H2 231 254 3.83e-2 SMART
ZnF_C2H2 288 311 1.76e-1 SMART
ZnF_C2H2 359 382 1.76e-1 SMART
low complexity region 455 469 N/A INTRINSIC
ZnF_C2H2 484 506 2.36e-2 SMART
ZnF_C2H2 517 540 5.14e-3 SMART
ZnF_C2H2 616 638 1.67e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123098
AA Change: H434Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000114604
Gene: ENSMUSG00000039841
AA Change: H434Q

DomainStartEndE-ValueType
ZnF_C2H2 69 89 8.18e1 SMART
low complexity region 203 217 N/A INTRINSIC
ZnF_C2H2 231 254 3.83e-2 SMART
ZnF_C2H2 288 311 1.76e-1 SMART
ZnF_C2H2 359 382 1.76e-1 SMART
low complexity region 455 469 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155494
SMART Domains Protein: ENSMUSP00000120392
Gene: ENSMUSG00000039841

DomainStartEndE-ValueType
Pfam:zf-C2H2_6 68 94 1.9e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 96% (67/70)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C A 3: 122,054,194 H55N probably damaging Het
Acan G T 7: 79,092,318 V488L probably damaging Het
Adam12 T C 7: 133,919,511 E638G possibly damaging Het
Adamts20 T A 15: 94,322,891 Q1387L possibly damaging Het
Adamts3 G T 5: 89,677,742 D1079E probably benign Het
Barx1 G T 13: 48,665,079 G93C probably damaging Het
Carmil2 C T 8: 105,693,045 R828C probably damaging Het
Catsper4 TTCTC TTC 4: 134,227,112 probably null Het
Ccdc159 T C 9: 21,931,711 M148T probably benign Het
Cdk5rap1 T A 2: 154,360,732 N193Y probably benign Het
Csnk1g2 G A 10: 80,634,498 G15D probably damaging Het
Dach1 T C 14: 98,168,859 S151G probably benign Het
Elf5 C A 2: 103,439,300 N75K probably benign Het
Elp3 T C 14: 65,565,333 D272G probably damaging Het
Epb41l1 T A 2: 156,495,123 probably null Het
Epha6 A G 16: 59,775,665 Y888H probably damaging Het
Fibcd1 T C 2: 31,817,210 Y345C probably damaging Het
Gjc1 C T 11: 102,800,137 E347K possibly damaging Het
Gm16486 A G 8: 70,710,776 N873D possibly damaging Het
Gse1 A G 8: 120,574,171 D892G unknown Het
Gtpbp6 A T 5: 110,104,049 I506N probably benign Het
Hivep1 T A 13: 42,158,192 F1303I possibly damaging Het
Il21r A G 7: 125,632,905 T502A probably benign Het
Ints1 T C 5: 139,764,079 T997A possibly damaging Het
Invs C A 4: 48,396,381 N351K probably damaging Het
Iqcm A G 8: 75,763,073 T390A probably benign Het
Kcnh4 C T 11: 100,741,817 G948D probably benign Het
Kcnh7 T A 2: 62,735,970 probably null Het
Lrrc72 A G 12: 36,208,612 V82A probably damaging Het
Macf1 A T 4: 123,378,150 L6535Q probably damaging Het
Ncor2 G C 5: 125,032,132 L585V Het
Nipal2 G C 15: 34,578,758 Y298* probably null Het
Nipsnap1 C T 11: 4,882,960 probably benign Het
Olfr1112 T A 2: 87,192,132 C148* probably null Het
Olfr1267-ps1 T C 2: 90,085,988 I158V not run Het
Olfr578 A T 7: 102,984,317 Y282* probably null Het
Pcdhga4 C T 18: 37,686,820 T474I probably benign Het
Pdp1 G T 4: 11,960,821 Q516K possibly damaging Het
Pik3c2b C T 1: 133,090,202 P934L probably damaging Het
Pp2d1 A G 17: 53,515,330 I236T probably benign Het
Pygm G A 19: 6,388,327 R278H probably damaging Het
Rb1 A T 14: 73,282,923 C215* probably null Het
Rgs22 A G 15: 36,015,643 S1156P possibly damaging Het
Rgs9bp T C 7: 35,584,701 T174A probably damaging Het
Rnf133 A T 6: 23,649,668 Y130* probably null Het
Sctr G A 1: 120,022,225 R48Q probably benign Het
Serpinb6e A T 13: 33,838,940 F153L probably benign Het
Slc22a1 A T 17: 12,666,700 Y200N probably damaging Het
Slc22a22 C A 15: 57,249,711 M377I probably benign Het
Slc36a4 A G 9: 15,722,156 probably null Het
Slc39a6 A G 18: 24,601,203 V143A probably benign Het
Slf2 G A 19: 44,938,424 probably null Het
Sowaha T C 11: 53,479,658 K84E probably benign Het
Spef2 T G 15: 9,653,012 probably null Het
Sphkap A T 1: 83,276,678 F1117I probably damaging Het
Tas2r113 T C 6: 132,893,576 I189T possibly damaging Het
Tescl T C 7: 24,333,822 E26G possibly damaging Het
Trpm6 A T 19: 18,876,786 I1847F probably damaging Het
Uba1y T A Y: 822,200 C178S possibly damaging Het
Ush2a T A 1: 188,443,329 V1208D possibly damaging Het
Usp13 G C 3: 32,894,851 A446P probably damaging Het
Usp7 A T 16: 8,696,724 C722S possibly damaging Het
Vmn1r52 A G 6: 90,179,553 S280G probably benign Het
Vmn2r84 T C 10: 130,389,208 K478E probably damaging Het
Zfp112 C A 7: 24,125,527 L311I probably benign Het
Zfp180 G T 7: 24,105,700 E515* probably null Het
Zfp518b A G 5: 38,672,328 I778T probably damaging Het
Other mutations in Zfp800
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Zfp800 APN 6 28243038 missense probably benign
IGL01446:Zfp800 APN 6 28242984 missense possibly damaging 0.87
IGL01462:Zfp800 APN 6 28242984 missense possibly damaging 0.87
R0195:Zfp800 UTSW 6 28243847 missense probably damaging 0.99
R1942:Zfp800 UTSW 6 28243273 missense probably benign 0.00
R4204:Zfp800 UTSW 6 28243181 missense probably benign
R4981:Zfp800 UTSW 6 28247191 missense probably damaging 1.00
R5281:Zfp800 UTSW 6 28243166 missense probably benign 0.05
R5339:Zfp800 UTSW 6 28256473 missense probably damaging 1.00
R5391:Zfp800 UTSW 6 28242993 missense probably damaging 0.97
R5614:Zfp800 UTSW 6 28243136 missense probably damaging 1.00
R5665:Zfp800 UTSW 6 28244513 missense probably null 0.10
R6349:Zfp800 UTSW 6 28244602 nonsense probably null
R6458:Zfp800 UTSW 6 28244216 missense probably damaging 1.00
R7219:Zfp800 UTSW 6 28243663 missense probably benign 0.00
R7420:Zfp800 UTSW 6 28243719 missense probably benign
R7457:Zfp800 UTSW 6 28244229 missense probably benign 0.00
R7582:Zfp800 UTSW 6 28244090 missense probably damaging 1.00
R7597:Zfp800 UTSW 6 28260765 missense probably damaging 1.00
R7685:Zfp800 UTSW 6 28244194 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACTGGCGTTTACAGAGTTTACAG -3'
(R):5'- ATGCCTCCTTTGCAAGAGG -3'

Sequencing Primer
(F):5'- GGCGTTTACAGAGTTTACAGTAAAG -3'
(R):5'- TGCCTCCTTTGCAAGAGGAAATAC -3'
Posted On2019-06-26