Incidental Mutation 'R3086:Zfp780b'
ID 265634
Institutional Source Beutler Lab
Gene Symbol Zfp780b
Ensembl Gene ENSMUSG00000063047
Gene Name zinc finger protein 780B
Synonyms B230208L21Rik
MMRRC Submission 040575-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R3086 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 27658560-27678596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27663055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 500 (I500T)
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: I500T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080324
Gene: ENSMUSG00000063047
AA Change: I500T

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: I500T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.3207 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 47,083,881 (GRCm39) L48P probably damaging Het
Adgra3 A T 5: 50,170,733 (GRCm39) probably null Het
Alms1 A G 6: 85,655,122 (GRCm39) R3223G probably benign Het
Bltp1 A G 3: 37,065,852 (GRCm39) D3483G possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Ces2b A T 8: 105,559,401 (GRCm39) D89V possibly damaging Het
Dhrs2 G T 14: 55,477,301 (GRCm39) V179L probably benign Het
Dlg5 T C 14: 24,216,258 (GRCm39) T595A probably damaging Het
Dock10 T C 1: 80,510,074 (GRCm39) N1585D possibly damaging Het
Dock4 T C 12: 40,781,862 (GRCm39) I689T probably benign Het
Fgfr4 G T 13: 55,315,205 (GRCm39) probably benign Het
Frk G A 10: 34,483,950 (GRCm39) G437D probably damaging Het
Frzb T G 2: 80,248,858 (GRCm39) I199L possibly damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Helq A G 5: 100,921,858 (GRCm39) L782S probably benign Het
Kif20b T C 19: 34,907,115 (GRCm39) F128S probably damaging Het
Kifc2 T C 15: 76,551,452 (GRCm39) F725L probably benign Het
Lekr1 A G 3: 65,634,581 (GRCm39) noncoding transcript Het
Macf1 T A 4: 123,328,901 (GRCm39) M2490L probably benign Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
N4bp2 A G 5: 65,948,396 (GRCm39) Y342C probably damaging Het
Nf1 T C 11: 79,437,812 (GRCm39) C2057R probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or6c88 G A 10: 129,407,276 (GRCm39) G251S probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdha1 G C 18: 37,064,001 (GRCm39) E222Q possibly damaging Het
Prune2 A T 19: 17,098,777 (GRCm39) D1427V possibly damaging Het
Rnps1 C T 17: 24,631,393 (GRCm39) probably benign Het
Rsph4a G C 10: 33,785,198 (GRCm39) V370L probably damaging Het
Sema5b T A 16: 35,443,093 (GRCm39) S33T probably benign Het
Stk-ps2 A C 1: 46,068,236 (GRCm39) noncoding transcript Het
Tep1 A T 14: 51,064,511 (GRCm39) probably null Het
Tet1 T C 10: 62,715,400 (GRCm39) K132E probably benign Het
Tiam2 A G 17: 3,471,857 (GRCm39) K500E probably damaging Het
Tmem131l G T 3: 83,839,046 (GRCm39) R635S probably benign Het
Tmem68 T C 4: 3,569,594 (GRCm39) E32G possibly damaging Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Zfyve26 G T 12: 79,312,457 (GRCm39) probably benign 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
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
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 PCR Primer
(F):5'- TACCTTGCACTCAAAGGGTC -3'
(R):5'- CCACACAAGTGTAATGAGTGTGG -3'

Sequencing Primer
(F):5'- TGCACTCAAAGGGTCTGTTAC -3'
(R):5'- TTTAAAAGAAGCAAAAGCCTCATGC -3'
Posted On 2015-02-05