Incidental Mutation 'R7180:Zeb1'
ID 558948
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 045233-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R7180 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 5591860-5775467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5767867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 793 (V793M)
Ref Sequence ENSEMBL: ENSMUSP00000025081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025081] [ENSMUST00000159390] [ENSMUST00000175925]
AlphaFold Q64318
Predicted Effect possibly damaging
Transcript: ENSMUST00000025081
AA Change: V793M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: V793M

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (80/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A C 4: 49,381,803 (GRCm39) Y196* probably null Het
Agrn C T 4: 156,256,296 (GRCm39) R1405H probably benign Het
Agtpbp1 G A 13: 59,613,852 (GRCm39) H1030Y probably benign Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Ap1g2 G C 14: 55,341,908 (GRCm39) P218R probably damaging Het
Ap2a1 C T 7: 44,573,228 (GRCm39) probably null Het
Apc2 T A 10: 80,146,990 (GRCm39) D681E possibly damaging Het
Arhgef5 T A 6: 43,252,142 (GRCm39) N964K possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
Ccnf T A 17: 24,442,889 (GRCm39) M773L probably benign Het
Ces1e A C 8: 93,941,772 (GRCm39) S234A probably damaging Het
Ces1g T A 8: 94,029,576 (GRCm39) E552V probably benign Het
Ctcfl A T 2: 172,947,770 (GRCm39) probably null Het
Dkk2 T A 3: 131,791,953 (GRCm39) S54T probably damaging Het
Dll1 A G 17: 15,595,131 (GRCm39) S49P probably benign Het
Dscam C A 16: 96,626,764 (GRCm39) A382S probably damaging Het
Eif4a3l1 T A 6: 136,306,535 (GRCm39) I332N probably damaging Het
Eif5b A T 1: 38,088,155 (GRCm39) M1020L probably damaging Het
Elp1 A T 4: 56,796,535 (GRCm39) S118R probably damaging Het
Enpp4 T C 17: 44,412,928 (GRCm39) D202G probably benign Het
Eps8 A T 6: 137,456,072 (GRCm39) I803N possibly damaging Het
Etv2 C A 7: 30,335,074 (GRCm39) G28V probably damaging Het
Fadd A T 7: 144,134,522 (GRCm39) V121E probably damaging Het
Fam149b T C 14: 20,431,853 (GRCm39) Y545H probably benign Het
Fbxl21 A T 13: 56,671,340 (GRCm39) M1L probably benign Het
Flg2 T C 3: 93,110,140 (GRCm39) S723P unknown Het
Gm4884 C T 7: 40,693,633 (GRCm39) T534I possibly damaging Het
Gpbar1 A T 1: 74,317,792 (GRCm39) I12F possibly damaging Het
Gpr151 A T 18: 42,712,021 (GRCm39) L219* probably null Het
Hdgfl2 T A 17: 56,404,532 (GRCm39) probably null Het
Hectd4 A G 5: 121,446,405 (GRCm39) M200V probably benign Het
Idua A G 5: 108,828,761 (GRCm39) N335S probably benign Het
Ifit1bl1 A T 19: 34,571,302 (GRCm39) F385Y probably damaging Het
Ift172 T C 5: 31,411,606 (GRCm39) D1624G probably damaging Het
Igsf9b A T 9: 27,233,964 (GRCm39) T388S possibly damaging Het
Insyn2b A G 11: 34,369,873 (GRCm39) K526E probably damaging Het
Jak2 A G 19: 29,259,811 (GRCm39) I237V probably benign Het
Kat5 C A 19: 5,653,989 (GRCm39) K398N probably damaging Het
Lmbrd2 T A 15: 9,175,283 (GRCm39) V398E possibly damaging Het
Lrp1 T C 10: 127,392,834 (GRCm39) N2744D probably damaging Het
Lrrd1 T C 5: 3,901,459 (GRCm39) I588T probably damaging Het
Ltn1 A G 16: 87,215,382 (GRCm39) F418L probably damaging Het
Magi1 T A 6: 93,792,731 (GRCm39) D169V probably benign Het
Mpdz T C 4: 81,253,988 (GRCm39) E1048G probably damaging Het
Myh9 T C 15: 77,692,110 (GRCm39) I150V probably benign Het
Nckap1 A T 2: 80,337,236 (GRCm39) M1006K probably benign Het
Nkain1 C T 4: 130,533,925 (GRCm38) V132I probably benign Het
Npy6r A T 18: 44,409,223 (GRCm39) M215L probably benign Het
Nr3c2 A T 8: 77,635,592 (GRCm39) Q231L probably damaging Het
Obox5 C T 7: 15,491,849 (GRCm39) P88L probably benign Het
Or10a48 A G 7: 108,425,186 (GRCm39) S7P probably damaging Het
Or9k7 T C 10: 130,046,811 (GRCm39) T63A probably benign Het
P2rx7 A G 5: 122,818,883 (GRCm39) D435G possibly damaging Het
Pdzd2 T A 15: 12,376,209 (GRCm39) S1309C probably damaging Het
Pex5l C T 3: 33,078,840 (GRCm39) probably null Het
Pip T A 6: 41,824,565 (GRCm39) C18S probably damaging Het
Pla2g7 C T 17: 43,909,967 (GRCm39) T157M probably damaging Het
Plce1 A G 19: 38,768,229 (GRCm39) Y2168C probably damaging Het
Rgs2 T C 1: 143,877,886 (GRCm39) T137A probably benign Het
Rpl32 T A 6: 115,784,768 (GRCm39) I31F possibly damaging Het
Ryr2 T C 13: 11,701,864 (GRCm39) Y2931C probably damaging Het
Slc4a4 G A 5: 89,194,095 (GRCm39) E192K probably damaging Het
Slc4a7 G A 14: 14,765,580 (GRCm38) A521T probably damaging Het
Smchd1 T C 17: 71,701,818 (GRCm39) E1058G probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Ssc5d A G 7: 4,939,600 (GRCm39) T679A probably benign Het
Tas2r130 A C 6: 131,607,211 (GRCm39) S195A probably benign Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Terf2ip G T 8: 112,738,052 (GRCm39) probably benign Het
Tm6sf2 G A 8: 70,528,656 (GRCm39) R136K probably benign Het
Tmprss15 A G 16: 78,764,886 (GRCm39) L858P probably damaging Het
Topaz1 A G 9: 122,626,770 (GRCm39) D1466G possibly damaging Het
Trip4 A T 9: 65,764,627 (GRCm39) L446Q probably damaging Het
Trpv3 G T 11: 73,168,818 (GRCm39) V93L probably benign Het
Ubl4b A T 3: 107,461,962 (GRCm39) H99Q probably damaging Het
Unc45a A T 7: 79,979,569 (GRCm39) probably null Het
Vmn1r47 G T 6: 89,999,335 (GRCm39) A156S probably damaging Het
Vmn2r33 T A 7: 7,566,896 (GRCm39) H72L probably benign Het
Zfp628 C A 7: 4,924,063 (GRCm39) Q762K probably benign 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
R1815:Zeb1 UTSW 18 5,767,898 (GRCm39) missense probably damaging 1.00
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
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'- CAGTGTTTATTCTGTCCAGGAAG -3'
(R):5'- TGGCAGCTGTAACAATCTGG -3'

Sequencing Primer
(F):5'- TGTCCAGGAAGAACCCTTGAACTTG -3'
(R):5'- TCTGGTTGATTCTACAGAGACAGAG -3'
Posted On 2019-06-26