Incidental Mutation 'IGL02108:Cecr2'
ID280056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cecr2
Ensembl Gene ENSMUSG00000071226
Gene NameCECR2, histone acetyl-lysine reader
SynonymsGtl4, 2610101O16Rik, 2810409N01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02108
Quality Score
Status
Chromosome6
Chromosomal Location120666369-120771190 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 120762558 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100993] [ENSMUST00000112686]
Predicted Effect probably null
Transcript: ENSMUST00000100993
SMART Domains Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
low complexity region 194 209 N/A INTRINSIC
low complexity region 211 222 N/A INTRINSIC
Pfam:WHIM3 244 284 5.2e-11 PFAM
coiled coil region 322 382 N/A INTRINSIC
BROMO 416 520 5.09e-32 SMART
low complexity region 536 551 N/A INTRINSIC
low complexity region 781 796 N/A INTRINSIC
low complexity region 839 855 N/A INTRINSIC
low complexity region 890 907 N/A INTRINSIC
low complexity region 1173 1187 N/A INTRINSIC
low complexity region 1202 1223 N/A INTRINSIC
low complexity region 1355 1366 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112686
SMART Domains Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
low complexity region 194 209 N/A INTRINSIC
low complexity region 211 222 N/A INTRINSIC
coiled coil region 322 382 N/A INTRINSIC
BROMO 416 520 5.09e-32 SMART
low complexity region 536 551 N/A INTRINSIC
low complexity region 753 768 N/A INTRINSIC
low complexity region 811 827 N/A INTRINSIC
low complexity region 862 879 N/A INTRINSIC
low complexity region 1145 1159 N/A INTRINSIC
low complexity region 1174 1195 N/A INTRINSIC
low complexity region 1327 1338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143563
SMART Domains Protein: ENSMUSP00000116993
Gene: ENSMUSG00000071226

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
low complexity region 63 79 N/A INTRINSIC
low complexity region 114 131 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutant mice display varied penetrance of exencephaly depending on genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccdc190 A G 1: 169,933,986 D219G probably damaging Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Chid1 A T 7: 141,532,928 M1K probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Gpihbp1 T C 15: 75,597,612 V92A probably benign Het
Grsf1 C T 5: 88,665,903 R329Q probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Lcn2 A T 2: 32,387,605 L124Q probably damaging Het
Mbl1 T C 14: 41,153,651 S21P possibly damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Odf1 C A 15: 38,226,379 Y174* probably null Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Pde9a G A 17: 31,461,693 S316N probably benign Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tmem127 T A 2: 127,257,106 S132T probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P probably damaging Het
Other mutations in Cecr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Cecr2 APN 6 120756717 missense probably damaging 1.00
IGL00782:Cecr2 APN 6 120761621 missense probably benign 0.00
IGL01137:Cecr2 APN 6 120762028 missense probably damaging 1.00
IGL01446:Cecr2 APN 6 120758599 missense probably benign
IGL02195:Cecr2 APN 6 120731406 missense probably damaging 1.00
IGL02689:Cecr2 APN 6 120762167 missense probably damaging 1.00
IGL03189:Cecr2 APN 6 120762430 missense probably benign 0.13
PIT1430001:Cecr2 UTSW 6 120758479 missense probably benign 0.01
R0200:Cecr2 UTSW 6 120761797 missense probably damaging 1.00
R0586:Cecr2 UTSW 6 120757884 missense probably damaging 1.00
R0715:Cecr2 UTSW 6 120758198 missense probably benign 0.21
R0784:Cecr2 UTSW 6 120758149 missense possibly damaging 0.74
R1185:Cecr2 UTSW 6 120758205 nonsense probably null
R1185:Cecr2 UTSW 6 120758205 nonsense probably null
R1185:Cecr2 UTSW 6 120758205 nonsense probably null
R1343:Cecr2 UTSW 6 120754711 missense probably damaging 0.99
R1349:Cecr2 UTSW 6 120757603 missense probably damaging 0.99
R1386:Cecr2 UTSW 6 120762131 missense probably damaging 1.00
R1438:Cecr2 UTSW 6 120761472 nonsense probably null
R1602:Cecr2 UTSW 6 120755587 missense possibly damaging 0.52
R1664:Cecr2 UTSW 6 120762026 missense probably damaging 0.96
R1731:Cecr2 UTSW 6 120758180 missense possibly damaging 0.74
R1817:Cecr2 UTSW 6 120731267 missense probably damaging 1.00
R1818:Cecr2 UTSW 6 120731267 missense probably damaging 1.00
R1819:Cecr2 UTSW 6 120731267 missense probably damaging 1.00
R1862:Cecr2 UTSW 6 120757941 missense probably damaging 1.00
R1907:Cecr2 UTSW 6 120761160 missense probably benign 0.03
R1911:Cecr2 UTSW 6 120762565 unclassified probably benign
R2135:Cecr2 UTSW 6 120720962 missense probably damaging 1.00
R2273:Cecr2 UTSW 6 120756741 missense probably benign 0.00
R2275:Cecr2 UTSW 6 120756741 missense probably benign 0.00
R3713:Cecr2 UTSW 6 120758260 missense probably damaging 1.00
R4271:Cecr2 UTSW 6 120762475 missense probably damaging 1.00
R4706:Cecr2 UTSW 6 120755578 missense possibly damaging 0.73
R4873:Cecr2 UTSW 6 120750916 missense probably damaging 0.99
R4875:Cecr2 UTSW 6 120750916 missense probably damaging 0.99
R5137:Cecr2 UTSW 6 120755517 missense probably benign
R5153:Cecr2 UTSW 6 120734560 missense probably benign 0.03
R5377:Cecr2 UTSW 6 120756569 missense possibly damaging 0.87
R5598:Cecr2 UTSW 6 120731446 splice site probably null
R5651:Cecr2 UTSW 6 120755560 missense probably damaging 0.96
R5680:Cecr2 UTSW 6 120761426 missense probably benign
R5813:Cecr2 UTSW 6 120762208 missense probably damaging 0.99
R5970:Cecr2 UTSW 6 120720907 missense probably damaging 0.98
R6255:Cecr2 UTSW 6 120758050 missense probably damaging 1.00
R6266:Cecr2 UTSW 6 120761686 missense probably benign
R6630:Cecr2 UTSW 6 120762178 missense probably damaging 1.00
R6737:Cecr2 UTSW 6 120737123 missense possibly damaging 0.86
R6754:Cecr2 UTSW 6 120757578 missense probably damaging 0.98
R6807:Cecr2 UTSW 6 120734542 intron probably null
R7187:Cecr2 UTSW 6 120756686 missense probably benign
R7256:Cecr2 UTSW 6 120762529 missense probably benign
R7282:Cecr2 UTSW 6 120761621 missense
R7548:Cecr2 UTSW 6 120761714 missense
R7596:Cecr2 UTSW 6 120762206 missense probably benign
R7802:Cecr2 UTSW 6 120743847 missense probably benign 0.45
X0012:Cecr2 UTSW 6 120733774 missense probably damaging 0.99
X0063:Cecr2 UTSW 6 120762071 missense probably benign 0.01
Z1177:Cecr2 UTSW 6 120720962 missense probably damaging 1.00
Posted On2015-04-16