Incidental Mutation 'R6416:Zfp260'
ID517926
Institutional Source Beutler Lab
Gene Symbol Zfp260
Ensembl Gene ENSMUSG00000049421
Gene Namezinc finger protein 260
SynonymsZfp63, PEX1, Ozrf1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #R6416 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location30094777-30107622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 30104810 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 45 (H45L)
Ref Sequence ENSEMBL: ENSMUSP00000103835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050735] [ENSMUST00000108200] [ENSMUST00000130526]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050735
AA Change: H45L

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000052200
Gene: ENSMUSG00000049421
AA Change: H45L

DomainStartEndE-ValueType
ZnF_C2H2 23 45 6.78e-3 SMART
ZnF_C2H2 51 71 2.44e2 SMART
ZnF_C2H2 79 101 3.21e-4 SMART
ZnF_C2H2 131 153 5.59e-4 SMART
ZnF_C2H2 159 181 1.38e-3 SMART
ZnF_C2H2 187 209 9.88e-5 SMART
ZnF_C2H2 215 237 8.47e-4 SMART
ZnF_C2H2 243 265 1.6e-4 SMART
ZnF_C2H2 271 293 8.94e-3 SMART
ZnF_C2H2 299 321 3.21e-4 SMART
ZnF_C2H2 327 349 9.88e-5 SMART
ZnF_C2H2 355 377 1.38e-3 SMART
ZnF_C2H2 383 405 1.38e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108200
AA Change: H45L

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103835
Gene: ENSMUSG00000049421
AA Change: H45L

DomainStartEndE-ValueType
ZnF_C2H2 23 45 6.78e-3 SMART
ZnF_C2H2 51 71 2.44e2 SMART
ZnF_C2H2 79 101 3.21e-4 SMART
ZnF_C2H2 131 153 5.59e-4 SMART
ZnF_C2H2 159 181 1.38e-3 SMART
ZnF_C2H2 187 209 9.88e-5 SMART
ZnF_C2H2 215 237 8.47e-4 SMART
ZnF_C2H2 243 265 1.6e-4 SMART
ZnF_C2H2 271 293 8.94e-3 SMART
ZnF_C2H2 299 321 3.21e-4 SMART
ZnF_C2H2 327 349 9.88e-5 SMART
ZnF_C2H2 355 377 1.38e-3 SMART
ZnF_C2H2 383 405 1.38e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116939
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123095
Predicted Effect probably benign
Transcript: ENSMUST00000130526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182136
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.4%
  • 20x: 94.6%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik C A 16: 88,707,891 R6L unknown Het
Anxa11 A G 14: 25,874,270 Q235R possibly damaging Het
Ap2b1 T A 11: 83,308,239 M1K probably null Het
Atl2 G A 17: 79,850,223 T563I probably benign Het
Azin1 A T 15: 38,492,343 S307R possibly damaging Het
Ccdc153 A G 9: 44,245,780 T118A probably benign Het
Chac1 G A 2: 119,353,534 V206I probably damaging Het
Chrm3 A G 13: 9,877,662 V446A probably benign Het
Cped1 T C 6: 22,123,649 F467S probably damaging Het
Csmd3 G A 15: 48,673,560 P82L probably damaging Het
Ddx60 T A 8: 61,977,950 S840T probably benign Het
Ddx60 C T 8: 61,998,681 H1202Y probably benign Het
Dnah8 T A 17: 30,765,635 N3102K probably benign Het
Dst A T 1: 34,116,128 K85M probably damaging Het
Ehbp1l1 T C 19: 5,718,757 I839M probably benign Het
Fam184b T A 5: 45,537,653 M750L probably benign Het
Frem2 T C 3: 53,572,378 T1965A probably benign Het
Ftl1 A T 7: 45,459,210 D41E probably benign Het
Garem2 G A 5: 30,116,737 W698* probably null Het
Glt8d2 T C 10: 82,652,906 Y283C probably damaging Het
Hars T C 18: 36,773,590 E109G possibly damaging Het
Hspb9 T C 11: 100,714,210 S121P probably damaging Het
Hus1b A T 13: 30,947,205 L157Q probably damaging Het
Hykk A G 9: 54,946,359 M322V probably benign Het
Igkv4-61 C A 6: 69,417,154 A31S possibly damaging Het
Il17f T A 1: 20,777,907 M116L probably benign Het
Kif22 T C 7: 127,028,932 K9E possibly damaging Het
Krt90 T C 15: 101,559,244 E233G probably benign Het
Lipg T C 18: 74,957,236 M81V probably benign Het
Mocos C T 18: 24,701,456 S850L probably damaging Het
Mug2 T A 6: 122,082,754 S1364T probably damaging Het
Neb A T 2: 52,185,328 N208K probably benign Het
Oca2 G T 7: 56,328,767 R561L probably benign Het
Olfm5 A G 7: 104,154,053 L401P probably damaging Het
Olfr109 T A 17: 37,467,080 Y291* probably null Het
Olfr1238 C A 2: 89,406,522 A186S possibly damaging Het
Olfr331 T C 11: 58,502,340 D72G probably damaging Het
Olfr828 G A 9: 18,815,892 T134M probably benign Het
Olfr952 T A 9: 39,426,891 Y60F probably damaging Het
Oxgr1 T C 14: 120,022,448 N116D probably damaging Het
Pcdha11 G T 18: 37,012,169 probably null Het
Pi4ka T C 16: 17,358,322 I418V probably benign Het
Pih1d2 T C 9: 50,618,609 V62A probably benign Het
Pkib T A 10: 57,728,138 V46E probably damaging Het
Pum1 A G 4: 130,728,287 probably null Het
Rbak G T 5: 143,176,552 Q19K possibly damaging Het
Sema3c A G 5: 17,576,961 T32A probably damaging Het
Shprh T C 10: 11,167,873 W835R probably damaging Het
Sis T G 3: 72,911,854 K1456N probably damaging Het
Slc4a4 A T 5: 89,179,729 N675I probably benign Het
Slc8a3 C A 12: 81,315,627 M139I probably damaging Het
Sorcs3 T C 19: 48,802,759 F1182S probably damaging Het
St8sia2 A T 7: 73,971,921 I96N probably damaging Het
Stx19 T C 16: 62,822,057 S79P probably damaging Het
Tecta C T 9: 42,375,267 V698M probably damaging Het
Timm22 T C 11: 76,411,139 S150P probably damaging Het
Tjp1 C T 7: 65,313,205 D995N possibly damaging Het
Tmem135 T A 7: 89,147,794 T365S probably benign Het
Tmem174 T C 13: 98,636,981 T114A probably benign Het
Tnc A G 4: 64,007,816 I909T probably benign Het
Trcg1 A G 9: 57,241,330 I62V possibly damaging Het
Tulp1 A T 17: 28,356,031 *487K probably null Het
Unc79 T A 12: 103,131,646 V1826E possibly damaging Het
Vmn2r13 A T 5: 109,174,116 N238K probably damaging Het
Vmn2r22 T A 6: 123,637,738 N298Y probably damaging Het
Vmn2r23 T A 6: 123,712,902 F246I probably damaging Het
Vps9d1 A C 8: 123,248,639 V194G probably damaging Het
Zfp846 A T 9: 20,593,720 H292L possibly damaging Het
Other mutations in Zfp260
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1739:Zfp260 UTSW 7 30104806 missense probably benign 0.04
R2143:Zfp260 UTSW 7 30105340 missense probably damaging 1.00
R2144:Zfp260 UTSW 7 30105340 missense probably damaging 1.00
R2145:Zfp260 UTSW 7 30105340 missense probably damaging 1.00
R2400:Zfp260 UTSW 7 30104701 missense possibly damaging 0.83
R3802:Zfp260 UTSW 7 30105079 missense probably benign 0.01
R5250:Zfp260 UTSW 7 30104967 missense probably damaging 1.00
R6313:Zfp260 UTSW 7 30104842 missense possibly damaging 0.86
R7369:Zfp260 UTSW 7 30105325 missense probably damaging 1.00
R7507:Zfp260 UTSW 7 30104866 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTACTTAGTGAATGTGGCAAAGC -3'
(R):5'- GATTCACTGGGTCTCTCTTCGG -3'

Sequencing Primer
(F):5'- AATGTGGCAAAGCTTTCGTCCAG -3'
(R):5'- CGGTATGTTGTTTCTGATGAGAAAG -3'
Posted On2018-05-24