Incidental Mutation 'R1015:Ezhip'
ID 96244
Institutional Source Beutler Lab
Gene Symbol Ezhip
Ensembl Gene ENSMUSG00000073294
Gene Name EZH inhibitory protein
Synonyms AU022751
MMRRC Submission 039119-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1015 (G1)
Quality Score 217
Status Not validated
Chromosome X
Chromosomal Location 5993273-5995473 bp(-) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) GTCATCATCATCATC to GTCATCATCATCATCATC at 5994645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101698] [ENSMUST00000117544]
AlphaFold B1B0V2
Predicted Effect probably benign
Transcript: ENSMUST00000101698
SMART Domains Protein: ENSMUSP00000099222
Gene: ENSMUSG00000073294

DomainStartEndE-ValueType
low complexity region 19 42 N/A INTRINSIC
low complexity region 113 134 N/A INTRINSIC
low complexity region 174 190 N/A INTRINSIC
low complexity region 200 216 N/A INTRINSIC
low complexity region 226 242 N/A INTRINSIC
low complexity region 252 292 N/A INTRINSIC
low complexity region 314 344 N/A INTRINSIC
low complexity region 388 407 N/A INTRINSIC
low complexity region 412 426 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117544
SMART Domains Protein: ENSMUSP00000114041
Gene: ENSMUSG00000073294

DomainStartEndE-ValueType
low complexity region 19 42 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
low complexity region 106 123 N/A INTRINSIC
low complexity region 147 161 N/A INTRINSIC
low complexity region 234 255 N/A INTRINSIC
low complexity region 295 311 N/A INTRINSIC
low complexity region 321 337 N/A INTRINSIC
low complexity region 347 363 N/A INTRINSIC
low complexity region 373 413 N/A INTRINSIC
low complexity region 435 465 N/A INTRINSIC
low complexity region 509 528 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181123
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3d1 A G 10: 80,552,323 (GRCm39) V615A probably damaging Het
Atp6v1d A G 12: 78,896,543 (GRCm39) V108A possibly damaging Het
B3gnt6 C A 7: 97,843,802 (GRCm39) V53L probably benign Het
C8b A G 4: 104,644,157 (GRCm39) K275E probably benign Het
Cage1 T A 13: 38,200,451 (GRCm39) N683I possibly damaging Het
Celsr3 T C 9: 108,710,375 (GRCm39) V1535A probably benign Het
Cep120 C T 18: 53,836,193 (GRCm39) probably null Het
Cep135 T C 5: 76,788,844 (GRCm39) probably null Het
Chd9 T A 8: 91,659,206 (GRCm39) H55Q probably damaging Het
Dmxl2 G A 9: 54,275,049 (GRCm39) T2915I probably benign Het
Eps8l1 A T 7: 4,472,932 (GRCm39) D118V probably damaging Het
Galnt2 C T 8: 125,063,356 (GRCm39) H359Y probably benign Het
Kdm5d T C Y: 941,687 (GRCm39) V1296A possibly damaging Het
Kif27 T A 13: 58,468,029 (GRCm39) K849N probably damaging Het
Kif5c T A 2: 49,634,377 (GRCm39) D736E probably benign Het
Krt18 T C 15: 101,939,735 (GRCm39) I311T probably benign Het
Lamc2 A T 1: 153,041,945 (GRCm39) V63D possibly damaging Het
Lmbrd1 T A 1: 24,770,959 (GRCm39) C295* probably null Het
Lrrc37 T C 11: 103,436,622 (GRCm39) H754R probably benign Het
Map3k14 T A 11: 103,116,126 (GRCm39) Q767H probably damaging Het
Mapkapk5 T C 5: 121,671,425 (GRCm39) K203E probably benign Het
Mcc C A 18: 44,857,736 (GRCm39) L126F probably benign Het
Mib1 T A 18: 10,726,409 (GRCm39) H35Q probably damaging Het
Myo16 A G 8: 10,440,183 (GRCm39) N412D probably benign Het
Ndst2 T C 14: 20,780,132 (GRCm39) Y36C probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nwd2 T C 5: 63,964,154 (GRCm39) I1246T probably damaging Het
Or5d47 T C 2: 87,804,431 (GRCm39) T193A probably benign Het
Or5m9 T C 2: 85,877,426 (GRCm39) I200T possibly damaging Het
Patl1 T C 19: 11,897,737 (GRCm39) V108A probably benign Het
Pdzd2 T C 15: 12,374,594 (GRCm39) E1847G probably damaging Het
Pla2g2f C T 4: 138,481,579 (GRCm39) V57I probably benign Het
Prag1 T C 8: 36,613,697 (GRCm39) V1083A probably damaging Het
Slc3a2 C T 19: 8,685,319 (GRCm39) W227* probably null Het
Snx9 A G 17: 5,970,402 (GRCm39) I379M probably benign Het
Spata31e4 T G 13: 50,855,664 (GRCm39) V434G possibly damaging Het
Tacc2 A G 7: 130,225,795 (GRCm39) K846E probably benign Het
Taf4b T A 18: 14,946,155 (GRCm39) V326E probably damaging Het
Tnrc6c C T 11: 117,612,748 (GRCm39) S462F possibly damaging Het
Trim66 C T 7: 109,054,440 (GRCm39) V1257I probably damaging Het
Urb2 T C 8: 124,756,173 (GRCm39) Y627H probably damaging Het
Usp53 A G 3: 122,727,408 (GRCm39) L1058P probably benign Het
Wdr24 A G 17: 26,047,212 (GRCm39) S702G probably benign Het
Other mutations in Ezhip
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1102:Ezhip UTSW X 5,994,645 (GRCm39) small insertion probably benign
R1513:Ezhip UTSW X 5,994,645 (GRCm39) small insertion probably benign
R1885:Ezhip UTSW X 5,994,645 (GRCm39) small insertion probably benign
R1886:Ezhip UTSW X 5,994,645 (GRCm39) small insertion probably benign
R1887:Ezhip UTSW X 5,994,645 (GRCm39) small insertion probably benign
R1931:Ezhip UTSW X 5,994,817 (GRCm39) missense probably benign 0.07
R1996:Ezhip UTSW X 5,994,645 (GRCm39) small insertion probably benign
R2255:Ezhip UTSW X 5,994,754 (GRCm39) missense probably benign 0.03
R3857:Ezhip UTSW X 5,994,710 (GRCm39) missense possibly damaging 0.83
R3859:Ezhip UTSW X 5,994,710 (GRCm39) missense possibly damaging 0.83
X0018:Ezhip UTSW X 5,994,029 (GRCm39) missense unknown
Z1176:Ezhip UTSW X 5,994,375 (GRCm39) missense unknown
Z1176:Ezhip UTSW X 5,994,368 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGAGGACGTAAATTCCAGCCTGTG -3'
(R):5'- TGGACATGCAAGGCCCATGATGAG -3'

Sequencing Primer
(F):5'- TCCTACGACCGAAAGGTACA -3'
(R):5'- AGCCAGAGTCTTCTCTGAGC -3'
Posted On 2014-01-05