Incidental Mutation 'IGL01988:Zeb1'
ID181986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zeb1
Ensembl Gene ENSMUSG00000024238
Gene Namezinc finger E-box binding homeobox 1
Synonyms3110032K11Rik, Tw, MEB1, Zfhx1a, Zfhep, ZEB, AREB6, Zfx1a, Tcf18, Nil2, Tcf8, [delta]EF1
Accession Numbers

Genbank: NM_011546; MGI: 1344313

Is this an essential gene? Probably essential (E-score: 0.788) question?
Stock #IGL01988
Quality Score
Status
Chromosome18
Chromosomal Location5591860-5775467 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 5759037 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 148 (L148*)
Ref Sequence ENSEMBL: ENSMUSP00000124815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025081] [ENSMUST00000159390] [ENSMUST00000160910] [ENSMUST00000175925]
Predicted Effect probably null
Transcript: ENSMUST00000025081
AA Change: L165*
SMART Domains Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: L165*

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
ZnF_C2H2 150 173 3.16e-3 SMART
ZnF_C2H2 180 202 3.21e-4 SMART
ZnF_C2H2 220 242 4.87e-4 SMART
ZnF_C2H2 248 268 1.86e1 SMART
low complexity region 288 304 N/A INTRINSIC
low complexity region 532 555 N/A INTRINSIC
HOX 559 621 7.53e-3 SMART
low complexity region 730 742 N/A INTRINSIC
low complexity region 766 783 N/A INTRINSIC
ZnF_C2H2 882 904 1.18e-2 SMART
ZnF_C2H2 910 932 4.4e-2 SMART
ZnF_C2H2 938 959 1.89e-1 SMART
coiled coil region 1006 1077 N/A INTRINSIC
low complexity region 1096 1112 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159390
AA Change: L111*
SMART Domains Protein: ENSMUSP00000124395
Gene: ENSMUSG00000024238
AA Change: L111*

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
ZnF_C2H2 96 119 3.16e-3 SMART
ZnF_C2H2 126 148 3.21e-4 SMART
ZnF_C2H2 166 188 4.87e-4 SMART
ZnF_C2H2 194 214 1.86e1 SMART
low complexity region 234 250 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000160910
AA Change: L148*
SMART Domains Protein: ENSMUSP00000124815
Gene: ENSMUSG00000024238
AA Change: L148*

DomainStartEndE-ValueType
ZnF_C2H2 133 153 1.2e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162892
SMART Domains Protein: ENSMUSP00000124677
Gene: ENSMUSG00000024238

DomainStartEndE-ValueType
ZnF_C2H2 94 117 1.3e-5 SMART
ZnF_C2H2 124 146 1.3e-6 SMART
ZnF_C2H2 164 186 2e-6 SMART
ZnF_C2H2 192 212 7.8e-2 SMART
low complexity region 232 248 N/A INTRINSIC
low complexity region 476 499 N/A INTRINSIC
HOX 503 565 3.9e-5 SMART
low complexity region 674 686 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175925
SMART Domains Protein: ENSMUSP00000135125
Gene: ENSMUSG00000024238

DomainStartEndE-ValueType
ZnF_C2H2 130 153 3.16e-3 SMART
ZnF_C2H2 160 182 3.21e-4 SMART
ZnF_C2H2 200 222 4.87e-4 SMART
ZnF_C2H2 228 248 1.86e1 SMART
low complexity region 268 284 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177030
SMART Domains Protein: ENSMUSP00000135865
Gene: ENSMUSG00000024238

DomainStartEndE-ValueType
ZnF_C2H2 22 44 4.87e-4 SMART
low complexity region 277 300 N/A INTRINSIC
HOX 304 366 7.53e-3 SMART
low complexity region 475 487 N/A INTRINSIC
low complexity region 511 528 N/A INTRINSIC
ZnF_C2H2 627 649 1.18e-2 SMART
ZnF_C2H2 655 677 4.4e-2 SMART
ZnF_C2H2 683 704 1.89e-1 SMART
low complexity region 758 775 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177070
SMART Domains Protein: ENSMUSP00000135543
Gene: ENSMUSG00000024238

DomainStartEndE-ValueType
ZnF_C2H2 130 153 3.16e-3 SMART
ZnF_C2H2 160 182 3.21e-4 SMART
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 zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mutations at this locus affect thymus organization and homozygotes exhibit severe thymic T cell deficiency. Some mutations result in eye anomalies and extensive skeletal abnormalities. Homozygotes generally die at birth due to respiratory failure. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,225,111 S493R probably benign Het
Abca17 T C 17: 24,334,255 N161D probably damaging Het
Ace2 C A X: 164,163,992 N290K possibly damaging Het
Adam26a G A 8: 43,569,170 P428S possibly damaging Het
Adgrv1 T C 13: 81,557,309 R1461G probably damaging Het
Arhgef10l T C 4: 140,578,361 probably benign Het
Bicc1 A G 10: 70,956,176 V334A probably damaging Het
C8a T C 4: 104,826,694 Y408C probably damaging Het
Col24a1 T C 3: 145,524,167 probably null Het
Copa T A 1: 172,118,264 N931K probably benign Het
Cr1l A G 1: 195,117,550 M272T probably damaging Het
Dcaf12 T C 4: 41,298,299 N283S probably benign Het
Dnttip2 T A 3: 122,276,295 S386R probably benign Het
Fbll1 G T 11: 35,797,901 D178E probably benign Het
Fgd6 A G 10: 94,074,335 probably benign Het
Fyn T A 10: 39,533,921 L408* probably null Het
Gkn2 T C 6: 87,379,275 V176A probably benign Het
Gm10764 G A 10: 87,291,091 C120Y unknown Het
Gpr19 A T 6: 134,869,284 F442I probably damaging Het
Herc1 A G 9: 66,488,075 probably benign Het
Il7 A G 3: 7,604,066 Y37H possibly damaging Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Kif1c A G 11: 70,704,936 D156G probably damaging Het
Lrch1 T C 14: 74,795,373 probably benign Het
Nedd1 G T 10: 92,714,159 T88K probably benign Het
Nlrc3 T G 16: 3,953,939 S875R probably benign Het
Olfr1251 T A 2: 89,667,080 I269F probably benign Het
Optc A G 1: 133,906,929 probably null Het
Pcdh17 T A 14: 84,446,622 D176E probably damaging Het
Pde1b A G 15: 103,524,856 probably null Het
Phf11a A T 14: 59,277,358 D291E probably damaging Het
Slc30a8 A T 15: 52,335,205 I349L probably benign Het
Spty2d1 T A 7: 46,997,610 S524C probably damaging Het
Syndig1 T C 2: 150,003,170 probably benign Het
Syvn1 G A 19: 6,052,407 A502T probably benign Het
Tenm2 A G 11: 36,027,251 L1894P probably damaging Het
Tmem176a T A 6: 48,842,620 V11E possibly damaging Het
Tpr G T 1: 150,426,999 probably null Het
Txnrd2 T C 16: 18,456,018 probably benign Het
Ubqln3 G A 7: 104,142,882 probably benign Het
Vmn1r6 C T 6: 57,002,665 T82I probably damaging Het
Wdfy4 C T 14: 33,076,480 E1990K possibly damaging Het
Zdhhc7 T C 8: 120,082,590 R293G probably benign Het
Other mutations in Zeb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Zeb1 APN 18 5767774 missense probably benign 0.00
IGL01139:Zeb1 APN 18 5705061 missense possibly damaging 0.69
IGL01444:Zeb1 APN 18 5767906 missense probably damaging 1.00
IGL01444:Zeb1 APN 18 5767138 missense probably benign
IGL01806:Zeb1 APN 18 5767867 missense possibly damaging 0.94
IGL02059:Zeb1 APN 18 5766892 missense probably damaging 1.00
IGL03005:Zeb1 APN 18 5767150 missense probably benign 0.03
IGL03153:Zeb1 APN 18 5770511 missense probably damaging 1.00
cellophane UTSW 18 5770554 nonsense probably null
serpens UTSW 18 5772455 missense probably damaging 1.00
N/A - 293:Zeb1 UTSW 18 5767076 missense possibly damaging 0.68
R0184:Zeb1 UTSW 18 5766808 missense probably damaging 1.00
R0488:Zeb1 UTSW 18 5772455 missense probably damaging 1.00
R0622:Zeb1 UTSW 18 5759123 nonsense probably null
R0646:Zeb1 UTSW 18 5759027 missense probably damaging 1.00
R0881:Zeb1 UTSW 18 5767138 missense probably benign
R1251:Zeb1 UTSW 18 5705089 missense probably damaging 1.00
R1257:Zeb1 UTSW 18 5772699 missense possibly damaging 0.53
R1501:Zeb1 UTSW 18 5761399 missense possibly damaging 0.95
R1547:Zeb1 UTSW 18 5767450 missense possibly damaging 0.50
R1797:Zeb1 UTSW 18 5766298 nonsense probably null
R1815:Zeb1 UTSW 18 5767898 missense probably damaging 1.00
R2090:Zeb1 UTSW 18 5766458 missense possibly damaging 0.65
R2129:Zeb1 UTSW 18 5767681 missense possibly damaging 0.92
R2875:Zeb1 UTSW 18 5772859 small insertion probably benign
R3888:Zeb1 UTSW 18 5748743 missense probably damaging 1.00
R3941:Zeb1 UTSW 18 5767799 missense probably benign 0.06
R3952:Zeb1 UTSW 18 5772716 missense probably benign 0.17
R4271:Zeb1 UTSW 18 5758985 missense probably damaging 0.99
R4512:Zeb1 UTSW 18 5759007 missense probably damaging 1.00
R4514:Zeb1 UTSW 18 5759007 missense probably damaging 1.00
R4677:Zeb1 UTSW 18 5766775 missense probably damaging 0.97
R4729:Zeb1 UTSW 18 5767286 missense probably damaging 1.00
R5839:Zeb1 UTSW 18 5767507 missense probably benign
R5913:Zeb1 UTSW 18 5766765 missense possibly damaging 0.49
R6248:Zeb1 UTSW 18 5766962 missense probably damaging 1.00
R6354:Zeb1 UTSW 18 5772743 missense possibly damaging 0.64
R6429:Zeb1 UTSW 18 5770498 missense probably damaging 1.00
R6819:Zeb1 UTSW 18 5591917 missense probably damaging 1.00
Posted On2014-05-07