Incidental Mutation 'R1797:Zeb1'
ID 202420
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 039827-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R1797 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 5591860-5775467 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 5766298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 216 (K216*)
Ref Sequence ENSEMBL: ENSMUSP00000124395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025081] [ENSMUST00000159390] [ENSMUST00000175925]
AlphaFold Q64318
Predicted Effect probably null
Transcript: ENSMUST00000025081
AA Change: K270*
SMART Domains Protein: ENSMUSP00000025081
Gene: ENSMUSG00000024238
AA Change: K270*

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: K216*
SMART Domains Protein: ENSMUSP00000124395
Gene: ENSMUSG00000024238
AA Change: K216*

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: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,089,285 (GRCm39) K200E possibly damaging Het
Abcc2 A G 19: 43,803,225 (GRCm39) E687G possibly damaging Het
Abcc2 A T 19: 43,822,426 (GRCm39) Q1421H probably damaging Het
Abcg3 C T 5: 105,087,030 (GRCm39) S534N possibly damaging Het
Acp1 A G 12: 30,946,113 (GRCm39) probably null Het
Adam12 C A 7: 133,569,590 (GRCm39) R295L probably benign Het
Albfm1 A T 5: 90,727,460 (GRCm39) E359D probably damaging Het
Alg1 C A 16: 5,057,007 (GRCm39) H213Q probably benign Het
Ap4b1 T A 3: 103,726,149 (GRCm39) W410R possibly damaging Het
As3mt A G 19: 46,713,373 (GRCm39) T307A possibly damaging Het
Cdc14a T C 3: 116,115,843 (GRCm39) I289V probably damaging Het
Cdk17 A G 10: 93,044,114 (GRCm39) I18V possibly damaging Het
Cep131 C T 11: 119,964,562 (GRCm39) probably null Het
Clca3a2 A G 3: 144,503,398 (GRCm39) Y851H probably benign Het
Cnih2 T C 19: 5,144,314 (GRCm39) K66E probably benign Het
Cpsf3 T A 12: 21,356,851 (GRCm39) N491K probably benign Het
Cux1 C T 5: 136,304,169 (GRCm39) E1253K probably benign Het
Dcc A C 18: 71,500,232 (GRCm39) L1005R probably damaging Het
Ddx19b A T 8: 111,739,439 (GRCm39) M200K probably damaging Het
Ech1 A G 7: 28,531,288 (GRCm39) Y292C probably damaging Het
Edc4 G T 8: 106,617,717 (GRCm39) A1121S probably benign Het
Eml6 T A 11: 29,832,041 (GRCm39) I210F probably benign Het
Fam135b T C 15: 71,324,290 (GRCm39) T1226A probably benign Het
Flg2 C T 3: 93,108,283 (GRCm39) R104C probably damaging Het
Frzb T C 2: 80,276,872 (GRCm39) I105V possibly damaging Het
Gli3 A G 13: 15,888,097 (GRCm39) D504G probably damaging Het
Gm42669 A T 5: 107,655,683 (GRCm39) K1161* probably null Het
Gm6665 T C 18: 31,953,186 (GRCm39) E63G possibly damaging Het
Gm9923 T C 10: 72,145,593 (GRCm39) V148A probably benign Het
Hoxc5 T C 15: 102,922,866 (GRCm39) I118T probably benign Het
Hsp90b1 A G 10: 86,537,609 (GRCm39) V232A possibly damaging Het
Impdh1 T A 6: 29,207,168 (GRCm39) I59F probably damaging Het
Iqch G A 9: 63,495,659 (GRCm39) P111S possibly damaging Het
Itih1 G T 14: 30,651,856 (GRCm39) Q829K probably damaging Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Kmt5b G T 19: 3,864,833 (GRCm39) E632D probably benign Het
L2hgdh C T 12: 69,746,340 (GRCm39) M373I probably benign Het
Map3k4 C T 17: 12,482,906 (GRCm39) E604K probably benign Het
Mok T A 12: 110,774,479 (GRCm39) Y420F probably benign Het
Nedd1 G A 10: 92,534,601 (GRCm39) T303I possibly damaging Het
Nipal4 T A 11: 46,042,160 (GRCm39) M174L probably benign Het
Or6c213 A C 10: 129,574,578 (GRCm39) I69M probably benign Het
Pag1 T A 3: 9,758,946 (GRCm39) T391S probably benign Het
Palm3 A G 8: 84,755,432 (GRCm39) R315G probably benign Het
Patj C T 4: 98,575,675 (GRCm39) R1177W probably damaging Het
Pbld2 G A 10: 62,910,903 (GRCm39) probably null Het
Phldb1 A T 9: 44,627,842 (GRCm39) M81K probably damaging Het
Pkn2 A G 3: 142,515,289 (GRCm39) F682L probably damaging Het
Plce1 T C 19: 38,747,392 (GRCm39) probably null Het
Plekha8 T A 6: 54,617,959 (GRCm39) V518E probably damaging Het
Ppp1r3a T A 6: 14,717,981 (GRCm39) M978L probably benign Het
Ppp4r4 T A 12: 103,564,410 (GRCm39) C592S possibly damaging Het
Prdx6b T A 2: 80,123,546 (GRCm39) D118E possibly damaging Het
Ptprg T C 14: 12,199,743 (GRCm38) V52A probably damaging Het
Rab27b A G 18: 70,122,617 (GRCm39) M114T probably damaging Het
Ralgps1 A G 2: 33,230,723 (GRCm39) probably null Het
Rasa3 G A 8: 13,632,372 (GRCm39) P506L probably benign Het
Rps6kb1 G A 11: 86,393,634 (GRCm39) R499* probably null Het
S1pr4 A G 10: 81,335,024 (GRCm39) M150T probably damaging Het
Scube2 T C 7: 109,430,882 (GRCm39) D439G probably damaging Het
Serpina1e T C 12: 103,917,150 (GRCm39) K173R probably benign Het
Serpina3m T A 12: 104,355,774 (GRCm39) I147N probably damaging Het
Sh3rf3 G T 10: 58,922,489 (GRCm39) G522* probably null Het
Smad1 A T 8: 80,070,473 (GRCm39) V355E probably damaging Het
Srsf11 A G 3: 157,725,065 (GRCm39) V211A possibly damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stt3a C T 9: 36,654,711 (GRCm39) probably null Het
Syne2 T C 12: 76,010,557 (GRCm39) V2488A probably benign Het
Tbc1d23 T C 16: 56,993,463 (GRCm39) T568A possibly damaging Het
Tnn A C 1: 159,968,258 (GRCm39) V378G probably damaging Het
Trim50 T C 5: 135,382,355 (GRCm39) V69A possibly damaging Het
Ttll10 A T 4: 156,132,024 (GRCm39) D19E probably damaging Het
Ushbp1 G A 8: 71,841,567 (GRCm39) R421C probably damaging Het
Vmn2r2 T C 3: 64,042,128 (GRCm39) T196A probably benign Het
Wdr64 G A 1: 175,639,585 (GRCm39) S1028N probably damaging Het
Wwtr1 T C 3: 57,369,996 (GRCm39) Y373C probably damaging Het
Zfp39 T C 11: 58,791,486 (GRCm39) D67G probably damaging Het
Zfp40 A G 17: 23,394,514 (GRCm39) I691T possibly damaging Het
Zfp532 T C 18: 65,758,215 (GRCm39) V716A probably benign Het
Zfp616 T A 11: 73,976,105 (GRCm39) C791* probably null Het
Zfp932 G A 5: 110,144,489 (GRCm39) 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
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
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'- CATGGGCATACAGAGGAGTC -3'
(R):5'- CCTGAAGCAACCACTATGGG -3'

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