Incidental Mutation 'R1815:Zeb1'
ID 202680
Institutional Source Beutler Lab
Gene Symbol Zeb1
Ensembl Gene ENSMUSG00000024238
Gene Name zinc finger E-box binding homeobox 1
Synonyms Nil2, Tcf18, 3110032K11Rik, Zfhep, ZEB, AREB6, Tcf8, Zfhx1a, MEB1, Tw, [delta]EF1, Zfx1a
MMRRC Submission 039843-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R1815 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 5591860-5775467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5767898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 803 (C803Y)
Ref Sequence ENSEMBL: ENSMUSP00000025081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025081] [ENSMUST00000159390] [ENSMUST00000175925]
AlphaFold Q64318
Predicted Effect probably damaging
Transcript: ENSMUST00000025081
AA Change: C803Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: C803Y

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 benign
Transcript: ENSMUST00000159390
SMART Domains Protein: ENSMUSP00000124395
Gene: ENSMUSG00000024238

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 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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 90.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,083,905 (GRCm39) T492A probably damaging Het
Afg3l2 A T 18: 67,548,643 (GRCm39) L529* probably null Het
Ak9 A G 10: 41,213,572 (GRCm39) E259G probably damaging Het
Apol11b T A 15: 77,519,772 (GRCm39) I103F probably damaging Het
Atp7b T C 8: 22,501,667 (GRCm39) M864V possibly damaging Het
Atp8a2 A G 14: 60,324,073 (GRCm39) L60P probably damaging Het
Begain T C 12: 109,000,033 (GRCm39) Y451C probably damaging Het
Bmpr1b A T 3: 141,586,124 (GRCm39) I46N probably benign Het
Bms1 T A 6: 118,360,742 (GRCm39) K1242M probably damaging Het
Calcoco1 A G 15: 102,622,358 (GRCm39) L254P probably damaging Het
Ccdc112 A T 18: 46,424,173 (GRCm39) N188K possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdkal1 A G 13: 29,901,774 (GRCm39) V132A possibly damaging Het
Cdo1 A G 18: 46,853,369 (GRCm39) C130R probably damaging Het
Cep295nl G T 11: 118,223,474 (GRCm39) R457S probably damaging Het
Cntn1 A T 15: 92,148,829 (GRCm39) I359F probably benign Het
Csnk1g1 T C 9: 65,939,606 (GRCm39) V435A probably damaging Het
Csnka2ip A G 16: 64,298,855 (GRCm39) V59A probably benign Het
Ddr2 A T 1: 169,823,170 (GRCm39) Y371* probably null Het
Dicer1 T C 12: 104,688,410 (GRCm39) E389G probably damaging Het
Dnah2 T C 11: 69,366,400 (GRCm39) I1901V probably damaging Het
Fanci T A 7: 79,088,056 (GRCm39) I903N probably damaging Het
Fastk T C 5: 24,646,529 (GRCm39) Q471R probably damaging Het
Flvcr1 A T 1: 190,757,577 (GRCm39) N238K probably damaging Het
Gsdmc3 A T 15: 63,740,965 (GRCm39) L61H probably damaging Het
H2-M10.5 T A 17: 37,084,836 (GRCm39) C187S probably damaging Het
Hmcn2 T C 2: 31,283,055 (GRCm39) I1977T probably damaging Het
Itpr2 T A 6: 146,260,914 (GRCm39) I905F probably benign Het
Jmy C T 13: 93,590,585 (GRCm39) G506D probably damaging Het
Klf4 G T 4: 55,530,977 (GRCm39) R45S probably benign Het
Klhdc7b A G 15: 89,271,800 (GRCm39) E894G probably damaging Het
Klra7 T C 6: 130,201,070 (GRCm39) I229V probably benign Het
Krt35 T C 11: 99,986,565 (GRCm39) T150A probably benign Het
Krtap20-1 T C 16: 88,812,337 (GRCm39) probably benign Het
Lct T C 1: 128,227,896 (GRCm39) Y1199C probably damaging Het
Lmbrd1 T A 1: 24,724,642 (GRCm39) N75K possibly damaging Het
Lss T C 10: 76,388,798 (GRCm39) S700P probably damaging Het
Ltbp1 A T 17: 75,559,375 (GRCm39) Q288L probably benign Het
Mical2 A G 7: 112,012,109 (GRCm39) E653G probably damaging Het
Mphosph10 G T 7: 64,041,918 (GRCm39) Q9K probably benign Het
Muc15 T A 2: 110,561,603 (GRCm39) L13Q probably damaging Het
Ncf4 A G 15: 78,134,602 (GRCm39) D18G probably benign Het
Nipsnap1 A G 11: 4,839,101 (GRCm39) Y127C probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt12 G A 17: 59,317,131 (GRCm39) P172L probably damaging Het
Or8g18 T C 9: 39,149,286 (GRCm39) I145V probably benign Het
Otud4 T A 8: 80,366,618 (GRCm39) Y28* probably null Het
Pdcd2l G A 7: 33,885,826 (GRCm39) T286I probably benign Het
Pgbd1 A G 13: 21,607,342 (GRCm39) V284A probably damaging Het
Phlpp2 C A 8: 110,666,855 (GRCm39) T1128K probably damaging Het
Pik3cb A G 9: 98,975,148 (GRCm39) V244A possibly damaging Het
Pld1 A G 3: 28,163,917 (GRCm39) I783M probably benign Het
Plk5 T C 10: 80,199,855 (GRCm39) V454A probably benign Het
Prkci T C 3: 31,092,644 (GRCm39) S309P probably damaging Het
Prx A T 7: 27,216,090 (GRCm39) D197V probably damaging Het
Ptpn5 A G 7: 46,728,589 (GRCm39) L537P probably benign Het
Rev3l T A 10: 39,698,867 (GRCm39) N1121K probably benign Het
Rock2 T A 12: 17,022,727 (GRCm39) D1055E probably benign Het
Rrp1b T C 17: 32,275,785 (GRCm39) V444A probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsf1 CG CGACGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rsf1 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
S1pr2 G A 9: 20,879,388 (GRCm39) R147* probably null Het
Serpinb9b A T 13: 33,223,887 (GRCm39) I360F probably damaging Het
Smc6 T C 12: 11,344,602 (GRCm39) probably null Het
Srsf11 C T 3: 157,722,064 (GRCm39) probably benign Het
Sstr1 T C 12: 58,260,264 (GRCm39) F296L possibly damaging Het
Tecrl T A 5: 83,427,081 (GRCm39) I356L probably benign Het
Tln2 A G 9: 67,136,705 (GRCm39) I2348T probably damaging Het
Tmed11 T A 5: 108,925,291 (GRCm39) I174L probably benign Het
Tmem132a G A 19: 10,838,931 (GRCm39) Q504* probably null Het
Unc5c A T 3: 141,463,518 (GRCm39) D213V probably damaging Het
Utp25 A C 1: 192,800,591 (GRCm39) S410A probably benign Het
Vgll4 T C 6: 114,841,020 (GRCm39) D92G probably benign Het
Vps37a T C 8: 40,965,162 (GRCm39) F5L probably benign Het
Zdhhc20 A T 14: 58,127,600 (GRCm39) V13E probably benign Het
Zmym1 T C 4: 126,942,814 (GRCm39) T427A possibly damaging Het
Other mutations in Zeb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Zeb1 APN 18 5,767,774 (GRCm39) missense probably benign 0.00
IGL01139:Zeb1 APN 18 5,705,061 (GRCm39) missense possibly damaging 0.69
IGL01444:Zeb1 APN 18 5,767,138 (GRCm39) missense probably benign
IGL01444:Zeb1 APN 18 5,767,906 (GRCm39) missense probably damaging 1.00
IGL01806:Zeb1 APN 18 5,767,867 (GRCm39) missense possibly damaging 0.94
IGL01988:Zeb1 APN 18 5,759,037 (GRCm39) nonsense probably null
IGL02059:Zeb1 APN 18 5,766,892 (GRCm39) missense probably damaging 1.00
IGL03005:Zeb1 APN 18 5,767,150 (GRCm39) missense probably benign 0.03
IGL03153:Zeb1 APN 18 5,770,511 (GRCm39) missense probably damaging 1.00
Apes UTSW 18 5,761,394 (GRCm39) missense probably damaging 1.00
cellophane UTSW 18 5,770,554 (GRCm39) nonsense probably null
serpens UTSW 18 5,772,455 (GRCm39) missense probably damaging 1.00
N/A - 293:Zeb1 UTSW 18 5,767,076 (GRCm39) missense possibly damaging 0.68
R0184:Zeb1 UTSW 18 5,766,808 (GRCm39) missense probably damaging 1.00
R0488:Zeb1 UTSW 18 5,772,455 (GRCm39) missense probably damaging 1.00
R0622:Zeb1 UTSW 18 5,759,123 (GRCm39) nonsense probably null
R0646:Zeb1 UTSW 18 5,759,027 (GRCm39) missense probably damaging 1.00
R0881:Zeb1 UTSW 18 5,767,138 (GRCm39) missense probably benign
R1251:Zeb1 UTSW 18 5,705,089 (GRCm39) missense probably damaging 1.00
R1257:Zeb1 UTSW 18 5,772,699 (GRCm39) missense possibly damaging 0.53
R1501:Zeb1 UTSW 18 5,761,399 (GRCm39) missense possibly damaging 0.95
R1547:Zeb1 UTSW 18 5,767,450 (GRCm39) missense possibly damaging 0.50
R1797:Zeb1 UTSW 18 5,766,298 (GRCm39) nonsense probably null
R2090:Zeb1 UTSW 18 5,766,458 (GRCm39) missense possibly damaging 0.65
R2129:Zeb1 UTSW 18 5,767,681 (GRCm39) missense possibly damaging 0.92
R2875:Zeb1 UTSW 18 5,772,859 (GRCm39) small insertion probably benign
R3888:Zeb1 UTSW 18 5,748,743 (GRCm39) missense probably damaging 1.00
R3941:Zeb1 UTSW 18 5,767,799 (GRCm39) missense probably benign 0.06
R3952:Zeb1 UTSW 18 5,772,716 (GRCm39) missense probably benign 0.17
R4271:Zeb1 UTSW 18 5,758,985 (GRCm39) missense probably damaging 0.99
R4512:Zeb1 UTSW 18 5,759,007 (GRCm39) missense probably damaging 1.00
R4514:Zeb1 UTSW 18 5,759,007 (GRCm39) missense probably damaging 1.00
R4677:Zeb1 UTSW 18 5,766,775 (GRCm39) missense probably damaging 0.97
R4729:Zeb1 UTSW 18 5,767,286 (GRCm39) missense probably damaging 1.00
R5839:Zeb1 UTSW 18 5,767,507 (GRCm39) missense probably benign
R5913:Zeb1 UTSW 18 5,766,765 (GRCm39) missense possibly damaging 0.49
R6248:Zeb1 UTSW 18 5,766,962 (GRCm39) missense probably damaging 1.00
R6354:Zeb1 UTSW 18 5,772,743 (GRCm39) missense possibly damaging 0.64
R6429:Zeb1 UTSW 18 5,770,498 (GRCm39) missense probably damaging 1.00
R6819:Zeb1 UTSW 18 5,591,917 (GRCm39) missense probably damaging 1.00
R7180:Zeb1 UTSW 18 5,767,867 (GRCm39) missense possibly damaging 0.94
R7193:Zeb1 UTSW 18 5,772,756 (GRCm39) missense probably damaging 0.98
R7199:Zeb1 UTSW 18 5,767,703 (GRCm39) missense probably benign 0.00
R7397:Zeb1 UTSW 18 5,761,394 (GRCm39) missense probably damaging 1.00
R7534:Zeb1 UTSW 18 5,766,611 (GRCm39) missense probably damaging 1.00
R7702:Zeb1 UTSW 18 5,766,802 (GRCm39) missense probably damaging 1.00
R7703:Zeb1 UTSW 18 5,766,917 (GRCm39) missense probably benign
R7934:Zeb1 UTSW 18 5,748,703 (GRCm39) missense probably benign 0.00
R8504:Zeb1 UTSW 18 5,705,127 (GRCm39) missense possibly damaging 0.94
R8539:Zeb1 UTSW 18 5,748,784 (GRCm39) missense probably damaging 0.99
R8716:Zeb1 UTSW 18 5,767,958 (GRCm39) missense probably damaging 0.99
R8772:Zeb1 UTSW 18 5,770,382 (GRCm39) critical splice acceptor site probably null
R8824:Zeb1 UTSW 18 5,748,680 (GRCm39) splice site probably benign
R9082:Zeb1 UTSW 18 5,772,557 (GRCm39) missense probably damaging 0.98
R9085:Zeb1 UTSW 18 5,766,716 (GRCm39) missense probably damaging 1.00
R9456:Zeb1 UTSW 18 5,766,709 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTGTCCAGGAAGAACCCTTG -3'
(R):5'- ACATGGCAGCTGTAACAATCTGG -3'

Sequencing Primer
(F):5'- TGTCCAGGAAGAACCCTTGAACTTG -3'
(R):5'- TCTGGTTGATTCTACAGAGACAGAG -3'
Posted On 2014-06-23