Incidental Mutation 'R5548:Zfp600'
ID434980
Institutional Source Beutler Lab
Gene Symbol Zfp600
Ensembl Gene ENSMUSG00000066007
Gene Namezinc finger protein 600
SynonymsGm13164
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.305) question?
Stock #R5548 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location146156824-146198755 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 146196449 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 562 (S562R)
Ref Sequence ENSEMBL: ENSMUSP00000126879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092750] [ENSMUST00000131932] [ENSMUST00000168483]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092750
AA Change: S562R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090425
Gene: ENSMUSG00000066007
AA Change: S562R

DomainStartEndE-ValueType
KRAB 28 90 1.29e-17 SMART
ZnF_C2H2 251 273 7.9e-4 SMART
ZnF_C2H2 279 301 7.9e-4 SMART
ZnF_C2H2 307 329 3.49e-5 SMART
ZnF_C2H2 335 357 1.95e-3 SMART
ZnF_C2H2 363 385 7.9e-4 SMART
ZnF_C2H2 391 413 7.9e-4 SMART
ZnF_C2H2 419 441 3.49e-5 SMART
ZnF_C2H2 447 469 3.89e-3 SMART
ZnF_C2H2 475 497 2.75e-3 SMART
ZnF_C2H2 503 525 3.04e-5 SMART
ZnF_C2H2 531 553 8.34e-3 SMART
ZnF_C2H2 559 581 5.67e-5 SMART
ZnF_C2H2 587 609 1.98e-4 SMART
ZnF_C2H2 615 637 5.29e-5 SMART
ZnF_C2H2 643 665 1.58e-3 SMART
ZnF_C2H2 671 693 1.28e-3 SMART
ZnF_C2H2 699 721 1.6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131932
SMART Domains Protein: ENSMUSP00000117892
Gene: ENSMUSG00000066007

DomainStartEndE-ValueType
KRAB 28 90 1.29e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153595
Predicted Effect possibly damaging
Transcript: ENSMUST00000168483
AA Change: S562R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126879
Gene: ENSMUSG00000066007
AA Change: S562R

DomainStartEndE-ValueType
KRAB 28 90 1.29e-17 SMART
ZnF_C2H2 251 273 7.9e-4 SMART
ZnF_C2H2 279 301 7.9e-4 SMART
ZnF_C2H2 307 329 3.49e-5 SMART
ZnF_C2H2 335 357 1.95e-3 SMART
ZnF_C2H2 363 385 7.9e-4 SMART
ZnF_C2H2 391 413 7.9e-4 SMART
ZnF_C2H2 419 441 3.49e-5 SMART
ZnF_C2H2 447 469 3.89e-3 SMART
ZnF_C2H2 475 497 2.75e-3 SMART
ZnF_C2H2 503 525 3.04e-5 SMART
ZnF_C2H2 531 553 8.34e-3 SMART
ZnF_C2H2 559 581 5.67e-5 SMART
ZnF_C2H2 587 609 1.98e-4 SMART
ZnF_C2H2 615 637 5.29e-5 SMART
ZnF_C2H2 643 665 1.58e-3 SMART
ZnF_C2H2 671 693 1.28e-3 SMART
ZnF_C2H2 699 721 1.6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181199
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,973,867 D191G probably benign Het
Ankrd39 C T 1: 36,541,981 G96R probably damaging Het
C77080 GGTG GGTGTG 4: 129,223,980 probably null Het
Cdh12 C T 15: 21,492,654 T253I probably damaging Het
Cox4i2 C T 2: 152,757,091 T56I possibly damaging Het
Cpsf1 A C 15: 76,597,327 D1141E possibly damaging Het
D3Ertd254e C G 3: 36,165,491 H554Q possibly damaging Het
Dennd5b T C 6: 149,019,349 probably null Het
Dnah6 A T 6: 73,151,689 D1194E probably damaging Het
Dst C A 1: 34,189,328 H1676N probably benign Het
Fitm1 A G 14: 55,575,697 T6A probably benign Het
Galnt5 T A 2: 58,014,910 V495E probably damaging Het
Gm8994 T C 6: 136,329,570 V343A probably damaging Het
Gtf2h2 C A 13: 100,481,036 R206L possibly damaging Het
Heatr5a A T 12: 51,958,951 Y80* probably null Het
Il17ra A G 6: 120,478,473 R348G probably benign Het
Mmp28 A T 11: 83,443,907 Y340* probably null Het
Mrgprb8 A T 7: 48,389,030 T150S probably benign Het
Ms4a10 A T 19: 10,968,120 probably null Het
Muc5b A T 7: 141,863,942 I3542F probably benign Het
Mybbp1a T C 11: 72,446,172 L578P probably damaging Het
N4bp2l1 G A 5: 150,572,955 R65* probably null Het
Nup188 T A 2: 30,326,493 Y770N probably damaging Het
Olfr284 T A 15: 98,340,372 T206S probably benign Het
Olfr918 T C 9: 38,673,304 I60V probably benign Het
Pbrm1 T A 14: 31,105,424 C1257S probably damaging Het
Pcdh8 T C 14: 79,767,502 T1028A probably damaging Het
Pramef25 C T 4: 143,949,980 E185K probably benign Het
Qars C T 9: 108,512,918 P348S possibly damaging Het
Qrfpr T A 3: 36,221,926 Q105L possibly damaging Het
Slc10a5 A T 3: 10,334,317 Y428N probably benign Het
Slc16a5 A T 11: 115,469,804 Y271F probably benign Het
Slc1a4 T A 11: 20,304,429 Q479L possibly damaging Het
Slc38a1 C T 15: 96,590,474 G143S probably damaging Het
Susd1 G A 4: 59,369,577 T364M probably benign Het
Tmem132c T A 5: 127,551,523 Y496* probably null Het
Tmem63b A G 17: 45,664,958 I523T probably damaging Het
Tnrc6c T C 11: 117,760,843 S1731P possibly damaging Het
Ttll3 T A 6: 113,393,117 W139R probably damaging Het
Ubr4 C T 4: 139,460,090 T3823M probably damaging Het
Vangl1 T A 3: 102,184,446 D108V possibly damaging Het
Vmn1r120 T C 7: 21,053,557 I76M probably benign Het
Wdr17 A G 8: 54,703,851 Y17H probably damaging Het
Xkr4 C T 1: 3,216,930 A346T probably damaging Het
Other mutations in Zfp600
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4131001:Zfp600 UTSW 4 146195232 frame shift probably null
R1004:Zfp600 UTSW 4 146196533 unclassified probably benign
R1323:Zfp600 UTSW 4 146196691 missense probably damaging 1.00
R1323:Zfp600 UTSW 4 146196691 missense probably damaging 1.00
R1702:Zfp600 UTSW 4 146196927 missense probably benign 0.04
R2165:Zfp600 UTSW 4 146196918 nonsense probably null
R5238:Zfp600 UTSW 4 146195171 unclassified probably null
R5646:Zfp600 UTSW 4 146195100 missense probably damaging 1.00
R5948:Zfp600 UTSW 4 146195075 missense probably damaging 0.96
R6112:Zfp600 UTSW 4 146195131 missense probably benign 0.41
R7044:Zfp600 UTSW 4 146195322 nonsense probably null
R7836:Zfp600 UTSW 4 146196953 missense probably benign
R8080:Zfp600 UTSW 4 146196612 missense unknown
Z1176:Zfp600 UTSW 4 146196639 missense unknown
Z1177:Zfp600 UTSW 4 146196763 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAATGCAGTGAGTGTGACA -3'
(R):5'- CACTACATTTGTAAGGTTTCTCTCC -3'

Sequencing Primer
(F):5'- GTGAATGCGACAAATGCTTTACCC -3'
(R):5'- GTCAGTAAAGCATTTGCCGC -3'
Posted On2016-10-24