Incidental Mutation 'R6036:Zfp780b'
ID 479206
Institutional Source Beutler Lab
Gene Symbol Zfp780b
Ensembl Gene ENSMUSG00000063047
Gene Name zinc finger protein 780B
Synonyms B230208L21Rik
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27658560-27678596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27662993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 521 (Y521H)
Ref Sequence ENSEMBL: ENSMUSP00000146224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081618] [ENSMUST00000205874] [ENSMUST00000206685]
AlphaFold E9Q2S6
Predicted Effect probably damaging
Transcript: ENSMUST00000081618
AA Change: Y521H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080324
Gene: ENSMUSG00000063047
AA Change: Y521H

DomainStartEndE-ValueType
KRAB 14 75 8.48e-36 SMART
ZnF_C2H2 171 193 2.91e-2 SMART
ZnF_C2H2 199 221 3.44e-4 SMART
ZnF_C2H2 227 249 3.11e-2 SMART
ZnF_C2H2 255 277 2.4e-3 SMART
ZnF_C2H2 283 305 2.15e-5 SMART
ZnF_C2H2 311 333 1.18e-2 SMART
ZnF_C2H2 339 361 1.47e-3 SMART
ZnF_C2H2 367 389 1.79e-2 SMART
ZnF_C2H2 395 417 2.24e-3 SMART
ZnF_C2H2 423 445 7.9e-4 SMART
ZnF_C2H2 451 473 8.34e-3 SMART
ZnF_C2H2 479 501 7.9e-4 SMART
ZnF_C2H2 507 529 3.16e-3 SMART
ZnF_C2H2 535 557 1.58e-3 SMART
ZnF_C2H2 563 585 9.08e-4 SMART
ZnF_C2H2 591 613 1.36e-2 SMART
ZnF_C2H2 619 641 1.04e-3 SMART
ZnF_C2H2 647 669 1.2e-3 SMART
ZnF_C2H2 675 697 2.24e-3 SMART
ZnF_C2H2 703 725 1.03e-2 SMART
ZnF_C2H2 731 753 4.17e-3 SMART
ZnF_C2H2 759 781 1.78e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205874
Predicted Effect probably damaging
Transcript: ENSMUST00000206685
AA Change: Y521H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Alpk3 G A 7: 80,743,005 (GRCm39) V941M probably benign Het
Ano4 A G 10: 88,818,127 (GRCm39) W588R possibly damaging Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Eif4enif1 T C 11: 3,189,420 (GRCm39) S227P probably damaging Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Hp A G 8: 110,303,406 (GRCm39) probably null Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Pou4f2 A T 8: 79,162,103 (GRCm39) S167T probably damaging Het
Scd4 G A 19: 44,333,231 (GRCm39) D319N probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Stat6 A G 10: 127,491,313 (GRCm39) N485D possibly damaging Het
Tpcn2 T C 7: 144,822,606 (GRCm39) T280A possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ttll7 A G 3: 146,645,917 (GRCm39) I592V probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Other mutations in Zfp780b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Zfp780b APN 7 27,664,186 (GRCm39) missense probably benign
IGL03088:Zfp780b APN 7 27,662,417 (GRCm39) missense possibly damaging 0.84
IGL03211:Zfp780b APN 7 27,662,600 (GRCm39) missense possibly damaging 0.93
R0403:Zfp780b UTSW 7 27,671,114 (GRCm39) missense possibly damaging 0.47
R1458:Zfp780b UTSW 7 27,664,252 (GRCm39) missense probably damaging 0.99
R1550:Zfp780b UTSW 7 27,664,282 (GRCm39) missense probably benign
R1694:Zfp780b UTSW 7 27,663,808 (GRCm39) missense possibly damaging 0.86
R1823:Zfp780b UTSW 7 27,662,525 (GRCm39) missense possibly damaging 0.93
R2113:Zfp780b UTSW 7 27,663,298 (GRCm39) missense possibly damaging 0.85
R3086:Zfp780b UTSW 7 27,663,055 (GRCm39) missense probably damaging 0.96
R4620:Zfp780b UTSW 7 27,662,178 (GRCm39) nonsense probably null
R5023:Zfp780b UTSW 7 27,662,873 (GRCm39) missense possibly damaging 0.88
R5521:Zfp780b UTSW 7 27,674,173 (GRCm39) splice site probably null
R5582:Zfp780b UTSW 7 27,664,252 (GRCm39) missense probably damaging 0.99
R5677:Zfp780b UTSW 7 27,662,224 (GRCm39) missense probably benign 0.33
R5762:Zfp780b UTSW 7 27,664,243 (GRCm39) missense probably benign
R5998:Zfp780b UTSW 7 27,664,047 (GRCm39) missense probably benign 0.07
R6036:Zfp780b UTSW 7 27,662,993 (GRCm39) missense probably damaging 0.99
R6050:Zfp780b UTSW 7 27,663,727 (GRCm39) missense probably damaging 0.98
R6702:Zfp780b UTSW 7 27,671,066 (GRCm39) missense possibly damaging 0.91
R6703:Zfp780b UTSW 7 27,671,066 (GRCm39) missense possibly damaging 0.91
R7112:Zfp780b UTSW 7 27,662,566 (GRCm39) missense probably damaging 0.98
R7311:Zfp780b UTSW 7 27,662,588 (GRCm39) missense possibly damaging 0.92
R7469:Zfp780b UTSW 7 27,663,382 (GRCm39) missense probably benign 0.02
R7561:Zfp780b UTSW 7 27,664,037 (GRCm39) missense possibly damaging 0.92
R7847:Zfp780b UTSW 7 27,663,843 (GRCm39) missense probably benign 0.00
R8412:Zfp780b UTSW 7 27,662,551 (GRCm39) missense possibly damaging 0.64
R8824:Zfp780b UTSW 7 27,662,893 (GRCm39) missense probably benign 0.45
R9219:Zfp780b UTSW 7 27,663,806 (GRCm39) missense probably benign 0.24
R9248:Zfp780b UTSW 7 27,673,143 (GRCm39) critical splice donor site probably null
R9642:Zfp780b UTSW 7 27,664,135 (GRCm39) missense probably benign 0.37
X0024:Zfp780b UTSW 7 27,662,675 (GRCm39) missense probably damaging 0.99
Z1186:Zfp780b UTSW 7 27,664,082 (GRCm39) missense probably benign
Z1186:Zfp780b UTSW 7 27,663,968 (GRCm39) missense possibly damaging 0.73
Z1186:Zfp780b UTSW 7 27,663,250 (GRCm39) missense probably benign
Z1186:Zfp780b UTSW 7 27,674,203 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2017-06-26