Incidental Mutation 'R9411:Zfp800'
ID 711798
Institutional Source Beutler Lab
Gene Symbol Zfp800
Ensembl Gene ENSMUSG00000039841
Gene Name zinc finger protein 800
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R9411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 28239926-28398004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28243430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 512 (I512V)
Ref Sequence ENSEMBL: ENSMUSP00000039222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035930] [ENSMUST00000115320] [ENSMUST00000115321] [ENSMUST00000123098] [ENSMUST00000155494]
AlphaFold Q0VEE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000035930
AA Change: I512V

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039222
Gene: ENSMUSG00000039841
AA Change: I512V

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: ENSMUST00000115320
AA Change: I512V

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110975
Gene: ENSMUSG00000039841
AA Change: I512V

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 possibly damaging
Transcript: ENSMUST00000115321
AA Change: I512V

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110976
Gene: ENSMUSG00000039841
AA Change: I512V

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
SMART Domains Protein: ENSMUSP00000114604
Gene: ENSMUSG00000039841

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: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,919,919 (GRCm39) A285T probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg7 T A 6: 114,690,289 (GRCm39) M650K probably benign Het
B020011L13Rik G A 1: 117,729,246 (GRCm39) G251E probably benign Het
Bhlha9 T C 11: 76,564,018 (GRCm39) V215A probably benign Het
Bmal1 C A 7: 112,907,837 (GRCm39) S513* probably null Het
C2cd3 T C 7: 100,065,704 (GRCm39) V452A Het
Cd55 G A 1: 130,368,114 (GRCm39) H370Y probably benign Het
Col6a1 A G 10: 76,547,487 (GRCm39) V662A unknown Het
Crocc A G 4: 140,749,577 (GRCm39) probably null Het
Cspg4b T A 13: 113,504,767 (GRCm39) N1965K Het
Dnah1 C T 14: 31,018,256 (GRCm39) V1421M probably damaging Het
Eid3 T G 10: 82,703,652 (GRCm39) I371S probably damaging Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Fshr T C 17: 89,293,148 (GRCm39) Y510C probably damaging Het
Garem1 C T 18: 21,369,057 (GRCm39) probably null Het
Gcn1 C T 5: 115,733,098 (GRCm39) T1045M possibly damaging Het
Ggt6 T A 11: 72,326,560 (GRCm39) L39H probably damaging Het
Glrb T C 3: 80,767,610 (GRCm39) probably null Het
Gpr171 T A 3: 59,005,311 (GRCm39) K155* probably null Het
Has2 T A 15: 56,531,306 (GRCm39) T470S possibly damaging Het
Ighv1-34 C T 12: 114,815,070 (GRCm39) V31M probably damaging Het
Kdm2a A T 19: 4,412,835 (GRCm39) N50K probably damaging Het
Mfsd9 C T 1: 40,829,692 (GRCm39) V30M probably damaging Het
Msra A G 14: 64,471,331 (GRCm39) I126T probably benign Het
Nkd2 G A 13: 73,969,330 (GRCm39) L379F probably benign Het
Nr2f2 A C 7: 70,007,525 (GRCm39) V319G Het
Ntng2 A T 2: 29,138,048 (GRCm39) L2Q probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pcnt T C 10: 76,258,896 (GRCm39) E523G probably damaging Het
Pllp C T 8: 95,402,868 (GRCm39) A158T probably benign Het
Plxna4 A G 6: 32,159,682 (GRCm39) S1431P probably damaging Het
Pramel16 A T 4: 143,676,215 (GRCm39) F296L probably damaging Het
Pramel31 A G 4: 144,089,997 (GRCm39) I346V probably benign Het
Prpf40a T C 2: 53,029,200 (GRCm39) D951G unknown Het
Retn G A 8: 3,707,378 (GRCm39) A113T probably benign Het
Rexo1 G T 10: 80,397,248 (GRCm39) R3S Het
Rras T A 7: 44,669,979 (GRCm39) I137N possibly damaging Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Sntb2 A G 8: 107,737,931 (GRCm39) D493G probably damaging Het
Socs5 T C 17: 87,442,521 (GRCm39) I487T possibly damaging Het
Spryd3 A G 15: 102,027,843 (GRCm39) Y235H probably damaging Het
Suco T A 1: 161,666,356 (GRCm39) I515F probably damaging Het
Syn2 T C 6: 115,231,152 (GRCm39) V269A possibly damaging Het
Tmbim6 T C 15: 99,304,501 (GRCm39) L186P probably damaging Het
Tmem234 T C 4: 129,495,988 (GRCm39) Y57H probably damaging Het
Tnik C A 3: 28,684,754 (GRCm39) P861T probably damaging Het
Tns1 A G 1: 73,992,662 (GRCm39) L45P probably damaging Het
Veph1 T A 3: 65,995,238 (GRCm39) D671V possibly damaging Het
Vwc2l A T 1: 70,767,980 (GRCm39) I15F probably benign Het
Zdbf2 A T 1: 63,343,288 (GRCm39) N556Y probably damaging Het
Zfp202 T A 9: 40,118,878 (GRCm39) V97D probably damaging Het
Zkscan2 T C 7: 123,084,405 (GRCm39) D573G probably damaging 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
R5665:Zfp800 UTSW 6 28,244,512 (GRCm39) missense probably null 0.10
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
Predicted Primers PCR Primer
(F):5'- GGAAGTGCCATCCTGTTTTG -3'
(R):5'- AAATCAGCTAGCCCTTCGG -3'

Sequencing Primer
(F):5'- GCCATCCTGTTTTGAGTCATTATG -3'
(R):5'- CCTTCGGCTGCAGGTGG -3'
Posted On 2022-05-16