Incidental Mutation 'R5665:Zfp800'
ID 444331
Institutional Source Beutler Lab
Gene Symbol Zfp800
Ensembl Gene ENSMUSG00000039841
Gene Name zinc finger protein 800
Synonyms
MMRRC Submission 043308-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R5665 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 28239926-28398004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28244512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 151 (D151G)
Ref Sequence ENSEMBL: ENSMUSP00000120392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035930] [ENSMUST00000115320] [ENSMUST00000115321] [ENSMUST00000123098] [ENSMUST00000155494]
AlphaFold Q0VEE6
Predicted Effect probably benign
Transcript: ENSMUST00000035930
AA Change: D151G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000039222
Gene: ENSMUSG00000039841
AA Change: D151G

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: D151G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110975
Gene: ENSMUSG00000039841
AA Change: D151G

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: D151G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110976
Gene: ENSMUSG00000039841
AA Change: D151G

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 possibly damaging
Transcript: ENSMUST00000123098
AA Change: D151G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114604
Gene: ENSMUSG00000039841
AA Change: D151G

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 noncoding transcript
Transcript: ENSMUST00000143099
SMART Domains Protein: ENSMUSP00000133161
Gene: ENSMUSG00000043340

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000155494
AA Change: D151G

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120392
Gene: ENSMUSG00000039841
AA Change: D151G

DomainStartEndE-ValueType
Pfam:zf-C2H2_6 68 94 1.9e-10 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Acaca G T 11: 84,136,120 (GRCm39) E492* probably null Het
Acp7 T A 7: 28,315,968 (GRCm39) K206M probably benign Het
Agbl1 T A 7: 76,239,251 (GRCm39) F584I probably damaging Het
Ahi1 A G 10: 20,930,946 (GRCm39) I929V possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arhgef40 A G 14: 52,238,357 (GRCm39) I1279V possibly damaging Het
Arl14 A C 3: 69,130,371 (GRCm39) T173P probably damaging Het
Asap1 A G 15: 64,184,302 (GRCm39) S44P probably damaging Het
Btbd7 C A 12: 102,751,456 (GRCm39) A1103S probably benign Het
Capn10 T A 1: 92,865,653 (GRCm39) probably null Het
Capn7 T C 14: 31,091,759 (GRCm39) F719L probably benign Het
Casp7 G A 19: 56,429,414 (GRCm39) D267N probably benign Het
Ccdc13 C A 9: 121,643,356 (GRCm39) K348N probably damaging Het
Chchd1 T C 14: 20,753,178 (GRCm39) F13L probably benign Het
Clcn6 T A 4: 148,099,018 (GRCm39) M442L possibly damaging Het
Col6a3 T C 1: 90,755,602 (GRCm39) E229G probably benign Het
Cyb5r3 A G 15: 83,038,755 (GRCm39) F278S probably damaging Het
Dhx16 C T 17: 36,201,978 (GRCm39) Q1002* probably null Het
Dppa4 T C 16: 48,111,378 (GRCm39) L121P probably benign Het
Dpyd A G 3: 118,710,741 (GRCm39) E383G probably damaging Het
Eif4g3 A G 4: 137,853,900 (GRCm39) T489A probably benign Het
Elovl1 G T 4: 118,288,832 (GRCm39) V174L probably damaging Het
Elp3 T C 14: 65,788,851 (GRCm39) K392E possibly damaging Het
Fancd2os C A 6: 113,574,985 (GRCm39) W7L probably damaging Het
Fchsd2 A G 7: 100,759,991 (GRCm39) T23A possibly damaging Het
Gabrp C G 11: 33,504,308 (GRCm39) A336P possibly damaging Het
Gcm2 T A 13: 41,263,387 (GRCm39) Y15F possibly damaging Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Herc1 A G 9: 66,372,717 (GRCm39) E3091G probably damaging Het
Homer1 A T 13: 93,492,610 (GRCm39) M184L probably benign Het
Izumo1r T C 9: 14,812,145 (GRCm39) E117G probably damaging Het
Kcnt1 C T 2: 25,791,921 (GRCm39) Q590* probably null Het
Lama1 G T 17: 68,077,982 (GRCm39) C1139F probably damaging Het
Med29 C T 7: 28,086,239 (GRCm39) A190T probably benign Het
Muc4 T C 16: 32,569,600 (GRCm39) V220A probably benign Het
Mxra8 G T 4: 155,927,378 (GRCm39) V388L probably benign Het
Myo5a T C 9: 75,051,463 (GRCm39) probably null Het
Myrip A G 9: 120,290,499 (GRCm39) Y706C probably damaging Het
Nphp4 T C 4: 152,590,942 (GRCm39) V313A probably benign Het
Oga A C 19: 45,765,436 (GRCm39) S124A probably benign Het
Olfm2 T G 9: 20,579,840 (GRCm39) probably null Het
Or10ag52 T A 2: 87,044,072 (GRCm39) S279T probably benign Het
Or10x4 T C 1: 174,218,941 (GRCm39) F102S probably damaging Het
Pcdh15 C T 10: 74,462,620 (GRCm39) P1398L probably damaging Het
Pdpr A G 8: 111,841,443 (GRCm39) E225G possibly damaging Het
Pigs C A 11: 78,219,595 (GRCm39) probably null Het
Pkhd1 T A 1: 20,658,755 (GRCm39) T159S probably damaging Het
Plk4 A G 3: 40,768,021 (GRCm39) T87A possibly damaging Het
Plxna4 T C 6: 32,192,657 (GRCm39) Y768C probably damaging Het
Prl3d3 T A 13: 27,343,064 (GRCm39) probably null Het
Pygb T C 2: 150,662,808 (GRCm39) probably null Het
Rnf114 T C 2: 167,352,854 (GRCm39) I118T possibly damaging Het
Sbno2 A G 10: 79,894,287 (GRCm39) L1099P probably benign Het
Scaper T C 9: 55,714,916 (GRCm39) K791E probably damaging Het
Serping1 T C 2: 84,601,889 (GRCm39) T194A probably damaging Het
Slc12a9 A G 5: 137,319,665 (GRCm39) S617P possibly damaging Het
Slk G A 19: 47,624,896 (GRCm39) R1039H probably damaging Het
Sntb1 T A 15: 55,655,535 (GRCm39) E227V probably benign Het
Sostdc1 C A 12: 36,364,407 (GRCm39) P39T probably benign Het
Spred1 C T 2: 116,983,486 (GRCm39) R16* probably null Het
Srpk2 A G 5: 23,723,475 (GRCm39) I547T probably damaging Het
Stt3a A G 9: 36,670,610 (GRCm39) Y54H probably damaging Het
Stt3b A T 9: 115,095,215 (GRCm39) L272H probably damaging Het
Syne2 T A 12: 76,154,991 (GRCm39) probably null Het
Uso1 A T 5: 92,346,196 (GRCm39) E793V possibly damaging Het
Usp15 A T 10: 122,966,892 (GRCm39) L476* probably null Het
Vmn1r189 T C 13: 22,286,336 (GRCm39) Y167C probably damaging Het
Vmn2r24 A G 6: 123,763,938 (GRCm39) T272A possibly damaging Het
Vps13a A T 19: 16,646,054 (GRCm39) H1994Q probably damaging Het
Zbtb10 T C 3: 9,330,252 (GRCm39) S537P probably damaging Het
Zbtb12 T C 17: 35,114,859 (GRCm39) S215P possibly damaging Het
Zfp346 T C 13: 55,260,915 (GRCm39) M81T probably benign Het
Other mutations in Zfp800
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Zfp800 APN 6 28,243,037 (GRCm39) missense probably benign
IGL01446:Zfp800 APN 6 28,242,983 (GRCm39) missense possibly damaging 0.87
IGL01462:Zfp800 APN 6 28,242,983 (GRCm39) missense possibly damaging 0.87
R0195:Zfp800 UTSW 6 28,243,846 (GRCm39) missense probably damaging 0.99
R1942:Zfp800 UTSW 6 28,243,272 (GRCm39) missense probably benign 0.00
R4204:Zfp800 UTSW 6 28,243,180 (GRCm39) missense probably benign
R4981:Zfp800 UTSW 6 28,247,190 (GRCm39) missense probably damaging 1.00
R5281:Zfp800 UTSW 6 28,243,165 (GRCm39) missense probably benign 0.05
R5339:Zfp800 UTSW 6 28,256,472 (GRCm39) missense probably damaging 1.00
R5391:Zfp800 UTSW 6 28,242,992 (GRCm39) missense probably damaging 0.97
R5614:Zfp800 UTSW 6 28,243,135 (GRCm39) missense probably damaging 1.00
R6349:Zfp800 UTSW 6 28,244,601 (GRCm39) nonsense probably null
R6458:Zfp800 UTSW 6 28,244,215 (GRCm39) missense probably damaging 1.00
R7219:Zfp800 UTSW 6 28,243,662 (GRCm39) missense probably benign 0.00
R7263:Zfp800 UTSW 6 28,243,662 (GRCm39) missense probably benign 0.00
R7420:Zfp800 UTSW 6 28,243,718 (GRCm39) missense probably benign
R7457:Zfp800 UTSW 6 28,244,228 (GRCm39) missense probably benign 0.00
R7582:Zfp800 UTSW 6 28,244,089 (GRCm39) missense probably damaging 1.00
R7597:Zfp800 UTSW 6 28,260,764 (GRCm39) missense probably damaging 1.00
R7685:Zfp800 UTSW 6 28,244,193 (GRCm39) missense probably damaging 1.00
R8321:Zfp800 UTSW 6 28,242,992 (GRCm39) missense probably damaging 1.00
R8757:Zfp800 UTSW 6 28,244,270 (GRCm39) missense probably benign 0.14
R9076:Zfp800 UTSW 6 28,243,215 (GRCm39) missense probably benign 0.01
R9183:Zfp800 UTSW 6 28,243,172 (GRCm39) missense probably benign 0.00
R9372:Zfp800 UTSW 6 28,256,433 (GRCm39) missense possibly damaging 0.48
R9411:Zfp800 UTSW 6 28,243,430 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- CTGTGATTCCTGAGGTTGCTCC -3'
(R):5'- GGGTGAGAACAAGTTAATTCTTTCAGG -3'

Sequencing Primer
(F):5'- TCCTCAGTGGGAGCTGCAG -3'
(R):5'- AAGTGATCTCCTAGAAGCC -3'
Posted On 2016-11-09