Incidental Mutation 'R5839:Zeb1'
ID 449830
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 044059-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5839 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 5591860-5775467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5767507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 673 (M673V)
Ref Sequence ENSEMBL: ENSMUSP00000025081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025081] [ENSMUST00000159390] [ENSMUST00000175925]
AlphaFold Q64318
Predicted Effect probably benign
Transcript: ENSMUST00000025081
AA Change: M673V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: M673V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 94% (62/66)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T A 5: 8,186,861 (GRCm39) Y420F probably damaging Het
Adcy8 A G 15: 64,588,031 (GRCm39) Y919H probably damaging Het
Afg2a A G 3: 37,518,803 (GRCm39) D779G probably damaging Het
Ampd1 A T 3: 102,992,744 (GRCm39) N162I possibly damaging Het
Arhgef15 G A 11: 68,844,982 (GRCm39) A205V probably benign Het
Ash1l A G 3: 88,890,658 (GRCm39) K846E probably damaging Het
Azi2 C T 9: 117,888,187 (GRCm39) T250I probably damaging Het
Btbd16 G A 7: 130,417,538 (GRCm39) probably null Het
Ceacam16 T A 7: 19,590,008 (GRCm39) K52* probably null Het
Cfap74 T C 4: 155,507,207 (GRCm39) probably null Het
Cgn A C 3: 94,681,703 (GRCm39) L464R probably damaging Het
Chpt1 T A 10: 88,339,625 (GRCm39) H32L probably damaging Het
Clk1 G A 1: 58,461,074 (GRCm39) T7I probably benign Het
Col6a5 C T 9: 105,822,592 (GRCm39) probably null Het
Cpne4 C A 9: 104,803,027 (GRCm39) R224S probably damaging Het
Cysltr2 T C 14: 73,267,623 (GRCm39) Y29C probably damaging Het
Ddx5 A G 11: 106,673,032 (GRCm39) S498P probably damaging Het
Dgkg A G 16: 22,385,244 (GRCm39) Y382H possibly damaging Het
Efemp1 A G 11: 28,871,418 (GRCm39) E339G possibly damaging Het
Focad T A 4: 88,115,083 (GRCm39) probably benign Het
Gabbr1 G A 17: 37,378,760 (GRCm39) G650D probably damaging Het
Galnt9 A G 5: 110,725,386 (GRCm39) S108G probably benign Het
Igkv8-28 T A 6: 70,121,145 (GRCm39) M1L probably benign Het
Iqca1l T C 5: 24,757,024 (GRCm39) K218E probably damaging Het
Kcnq2 T C 2: 180,751,544 (GRCm39) Y284C probably damaging Het
Macf1 A G 4: 123,275,117 (GRCm39) F6299S probably damaging Het
Magi3 G A 3: 104,127,047 (GRCm39) T79M probably damaging Het
Mdh2 T A 5: 135,812,146 (GRCm39) probably null Het
Mgam A C 6: 40,716,998 (GRCm39) N108T possibly damaging Het
N4bp3 A T 11: 51,536,909 (GRCm39) F55I probably benign Het
Nasp C T 4: 116,459,288 (GRCm39) probably null Het
Ncapg T A 5: 45,829,620 (GRCm39) H107Q probably damaging Het
Ofcc1 T C 13: 40,434,021 (GRCm39) K28R probably damaging Het
Opn1sw C T 6: 29,379,829 (GRCm39) C135Y probably damaging Het
Pigo T C 4: 43,022,104 (GRCm39) M346V probably damaging Het
Pkn2 A T 3: 142,527,290 (GRCm39) D386E probably benign Het
Psd2 G T 18: 36,140,577 (GRCm39) V617L probably damaging Het
Rab39 C T 9: 53,617,387 (GRCm39) R10H probably damaging Het
Slc6a6 T A 6: 91,700,298 (GRCm39) C9S probably damaging Het
Slc8a2 A T 7: 15,868,412 (GRCm39) I215F probably damaging Het
Slitrk5 T C 14: 111,917,030 (GRCm39) V218A probably benign Het
Smchd1 A T 17: 71,701,857 (GRCm39) V1045E probably damaging Het
Smoc1 T C 12: 81,214,359 (GRCm39) I247T probably damaging Het
Snapc4 G C 2: 26,255,546 (GRCm39) Q993E probably benign Het
Spidr A T 16: 15,855,366 (GRCm39) I383N probably damaging Het
Stab2 A G 10: 86,708,555 (GRCm39) V219A probably damaging Het
Tas2r103 T C 6: 133,013,779 (GRCm39) T96A probably benign Het
Tcaf3 T C 6: 42,570,783 (GRCm39) E323G possibly damaging Het
Tecta T C 9: 42,284,272 (GRCm39) T938A possibly damaging Het
Tecta C T 9: 42,242,319 (GRCm39) D2085N probably benign Het
Tekt2 T A 4: 126,216,629 (GRCm39) E328V probably damaging Het
Tgfb1i1 A G 7: 127,852,537 (GRCm39) *462W probably null Het
Tnip2 T C 5: 34,653,976 (GRCm39) probably benign Het
Tpd52l2 G A 2: 181,141,691 (GRCm39) V25I probably benign Het
Traj15 T A 14: 54,441,926 (GRCm39) probably benign Het
Trpm8 A T 1: 88,253,228 (GRCm39) I106F possibly damaging Het
Ttc22 T C 4: 106,495,717 (GRCm39) L357P probably damaging Het
Ttn T C 2: 76,739,772 (GRCm39) H3589R probably benign Het
Vmn1r28 T A 6: 58,242,280 (GRCm39) I41N possibly damaging Het
Wasf1 T A 10: 40,812,315 (GRCm39) V368E unknown Het
Zfp799 T C 17: 33,041,086 (GRCm39) D31G probably null 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
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'- GACAGATTCCAGGACAGTCTC -3'
(R):5'- TCAAGGGTTCTTCCTGGACAG -3'

Sequencing Primer
(F):5'- GACAGTCTCCTGACCCCC -3'
(R):5'- TGGTAAACGCTACTGACTGTCGAC -3'
Posted On 2016-12-20