Incidental Mutation 'R6675:Zeb2'
ID 527234
Institutional Source Beutler Lab
Gene Symbol Zeb2
Ensembl Gene ENSMUSG00000026872
Gene Name zinc finger E-box binding homeobox 2
Synonyms SIP1, D130016B08Rik, 9130203F04Rik, Zfhx1b, Zfx1b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6675 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 44873644-45007407 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 44887457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 518 (Y518*)
Ref Sequence ENSEMBL: ENSMUSP00000144637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028229] [ENSMUST00000068415] [ENSMUST00000076836] [ENSMUST00000176438] [ENSMUST00000176732] [ENSMUST00000177302] [ENSMUST00000200844] [ENSMUST00000201804] [ENSMUST00000201211] [ENSMUST00000201623]
AlphaFold Q9R0G7
Predicted Effect probably null
Transcript: ENSMUST00000028229
AA Change: Y533*
SMART Domains Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: Y533*

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
ZnF_C2H2 211 234 2.09e-3 SMART
ZnF_C2H2 241 263 9.88e-5 SMART
ZnF_C2H2 282 304 4.87e-4 SMART
ZnF_C2H2 310 330 1.86e1 SMART
low complexity region 352 364 N/A INTRINSIC
ZnF_C2H2 581 601 5.54e1 SMART
HOX 644 706 2.05e-3 SMART
low complexity region 778 808 N/A INTRINSIC
low complexity region 841 856 N/A INTRINSIC
low complexity region 870 881 N/A INTRINSIC
ZnF_C2H2 999 1021 4.47e-3 SMART
ZnF_C2H2 1027 1049 2.17e-1 SMART
ZnF_C2H2 1055 1076 1.89e-1 SMART
low complexity region 1083 1097 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1158 1168 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000068415
AA Change: Y489*
SMART Domains Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: Y489*

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
ZnF_C2H2 211 234 2.09e-3 SMART
ZnF_C2H2 241 263 9.88e-5 SMART
ZnF_C2H2 282 304 4.87e-4 SMART
ZnF_C2H2 310 330 1.86e1 SMART
low complexity region 352 364 N/A INTRINSIC
ZnF_C2H2 581 601 5.54e1 SMART
HOX 644 706 2.05e-3 SMART
low complexity region 778 808 N/A INTRINSIC
low complexity region 841 856 N/A INTRINSIC
low complexity region 870 881 N/A INTRINSIC
ZnF_C2H2 999 1021 4.47e-3 SMART
ZnF_C2H2 1027 1049 2.17e-1 SMART
ZnF_C2H2 1055 1076 1.89e-1 SMART
low complexity region 1083 1097 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1158 1168 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000076836
AA Change: Y488*
SMART Domains Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: Y488*

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
ZnF_C2H2 210 233 2.09e-3 SMART
ZnF_C2H2 240 262 9.88e-5 SMART
ZnF_C2H2 281 303 4.87e-4 SMART
ZnF_C2H2 309 329 1.86e1 SMART
low complexity region 351 363 N/A INTRINSIC
ZnF_C2H2 580 600 5.54e1 SMART
HOX 643 705 2.05e-3 SMART
low complexity region 777 807 N/A INTRINSIC
low complexity region 840 855 N/A INTRINSIC
low complexity region 869 880 N/A INTRINSIC
ZnF_C2H2 998 1020 4.47e-3 SMART
ZnF_C2H2 1026 1048 2.17e-1 SMART
ZnF_C2H2 1054 1075 1.89e-1 SMART
low complexity region 1082 1096 N/A INTRINSIC
low complexity region 1133 1149 N/A INTRINSIC
low complexity region 1157 1167 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000176438
AA Change: Y489*
SMART Domains Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: Y489*

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
ZnF_C2H2 211 234 2.09e-3 SMART
ZnF_C2H2 241 263 9.88e-5 SMART
ZnF_C2H2 282 304 4.87e-4 SMART
ZnF_C2H2 310 330 1.86e1 SMART
low complexity region 352 364 N/A INTRINSIC
ZnF_C2H2 581 601 5.54e1 SMART
HOX 644 706 2.05e-3 SMART
low complexity region 778 808 N/A INTRINSIC
low complexity region 841 856 N/A INTRINSIC
low complexity region 870 881 N/A INTRINSIC
ZnF_C2H2 999 1021 4.47e-3 SMART
ZnF_C2H2 1027 1049 2.17e-1 SMART
ZnF_C2H2 1055 1076 1.89e-1 SMART
low complexity region 1083 1097 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1158 1168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176732
SMART Domains Protein: ENSMUSP00000135393
Gene: ENSMUSG00000026872

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
ZnF_C2H2 60 83 2.09e-3 SMART
ZnF_C2H2 90 112 9.88e-5 SMART
ZnF_C2H2 131 153 4.87e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000177302
AA Change: Y489*
SMART Domains Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: Y489*

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
ZnF_C2H2 211 234 2.09e-3 SMART
ZnF_C2H2 241 263 9.88e-5 SMART
ZnF_C2H2 282 304 4.87e-4 SMART
ZnF_C2H2 310 330 1.86e1 SMART
low complexity region 352 364 N/A INTRINSIC
ZnF_C2H2 581 601 5.54e1 SMART
HOX 644 706 2.05e-3 SMART
low complexity region 778 808 N/A INTRINSIC
low complexity region 841 856 N/A INTRINSIC
low complexity region 870 881 N/A INTRINSIC
ZnF_C2H2 999 1021 4.47e-3 SMART
ZnF_C2H2 1027 1049 2.17e-1 SMART
ZnF_C2H2 1055 1076 1.89e-1 SMART
low complexity region 1083 1097 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1158 1168 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000200844
AA Change: Y465*
SMART Domains Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: Y465*

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
ZnF_C2H2 187 210 9.2e-6 SMART
ZnF_C2H2 217 239 4.2e-7 SMART
ZnF_C2H2 258 280 2e-6 SMART
ZnF_C2H2 286 306 8e-2 SMART
low complexity region 328 340 N/A INTRINSIC
ZnF_C2H2 557 577 2.4e-1 SMART
HOX 620 682 1.1e-5 SMART
low complexity region 754 784 N/A INTRINSIC
low complexity region 817 832 N/A INTRINSIC
low complexity region 846 857 N/A INTRINSIC
ZnF_C2H2 975 997 1.9e-5 SMART
ZnF_C2H2 1003 1025 9.6e-4 SMART
ZnF_C2H2 1031 1052 7.9e-4 SMART
low complexity region 1059 1073 N/A INTRINSIC
low complexity region 1110 1126 N/A INTRINSIC
low complexity region 1134 1144 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000201804
AA Change: Y518*
SMART Domains Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872
AA Change: Y518*

DomainStartEndE-ValueType
low complexity region 107 119 N/A INTRINSIC
ZnF_C2H2 240 263 9.2e-6 SMART
ZnF_C2H2 270 292 4.2e-7 SMART
ZnF_C2H2 311 333 2e-6 SMART
ZnF_C2H2 339 359 8e-2 SMART
low complexity region 381 393 N/A INTRINSIC
ZnF_C2H2 610 630 2.4e-1 SMART
HOX 673 731 1.2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209076
Predicted Effect probably benign
Transcript: ENSMUST00000201211
SMART Domains Protein: ENSMUSP00000144406
Gene: ENSMUSG00000026872

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202432
Predicted Effect probably benign
Transcript: ENSMUST00000201623
SMART Domains Protein: ENSMUSP00000144075
Gene: ENSMUSG00000026872

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
ZnF_C2H2 187 210 9.2e-6 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous null mutants exhibit a variety of defects at embryonic day 8.5 and die between embryonic days 9.5 and 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,006,302 (GRCm39) T1268A probably benign Het
Adamts20 A G 15: 94,229,197 (GRCm39) probably null Het
Arhgap45 G T 10: 79,853,938 (GRCm39) D151Y probably null Het
Arhgef40 C A 14: 52,229,098 (GRCm39) L592I probably damaging Het
Ascc3 G T 10: 50,626,659 (GRCm39) E1720* probably null Het
Atp2c1 C T 9: 105,330,732 (GRCm39) probably null Het
Avpi1 G A 19: 42,112,183 (GRCm39) P125L probably benign Het
Cers3 A T 7: 66,435,844 (GRCm39) T232S possibly damaging Het
Cfap53 T C 18: 74,440,447 (GRCm39) probably null Het
Col4a3 T C 1: 82,646,646 (GRCm39) S386P unknown Het
Dhtkd1 A T 2: 5,908,889 (GRCm39) M735K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Gad2 T C 2: 22,563,997 (GRCm39) V400A possibly damaging Het
Gm10801 TC TCGCC 2: 98,494,151 (GRCm39) probably benign Het
Hmgxb3 T G 18: 61,270,648 (GRCm39) D892A possibly damaging Het
Hsd3b2 G A 3: 98,620,788 (GRCm39) T89I probably benign Het
Iars1 C A 13: 49,873,054 (GRCm39) A713D probably damaging Het
Itih1 G A 14: 30,651,798 (GRCm39) T848I possibly damaging Het
Kcne2 A G 16: 92,093,512 (GRCm39) D13G probably benign Het
Klra17 T A 6: 129,849,286 (GRCm39) N96I probably damaging Het
Lrig2 T C 3: 104,365,251 (GRCm39) N634D probably benign Het
Mrc2 T A 11: 105,233,906 (GRCm39) probably null Het
Mroh3 A T 1: 136,118,550 (GRCm39) S558T possibly damaging Het
Ncapg2 G T 12: 116,398,281 (GRCm39) K627N possibly damaging Het
Ncstn A T 1: 171,899,095 (GRCm39) D345E probably damaging Het
Nkx1-1 G T 5: 33,591,223 (GRCm39) A33E unknown Het
Or2n1 T A 17: 38,486,905 (GRCm39) M310K probably benign Het
Or51f2 A G 7: 102,526,480 (GRCm39) E51G possibly damaging Het
Osbpl9 G T 4: 108,991,025 (GRCm39) probably null Het
P2rx6 T C 16: 17,380,032 (GRCm39) V52A probably benign Het
Pcdhgb5 C T 18: 37,864,255 (GRCm39) L17F probably damaging Het
Pdk2 T C 11: 94,919,568 (GRCm39) I273V probably benign Het
Pdpr C T 8: 111,828,532 (GRCm39) Q12* probably null Het
Plxdc2 A G 2: 16,716,932 (GRCm39) T339A probably benign Het
Pramel27 G A 4: 143,579,828 (GRCm39) C471Y probably damaging Het
Retsat T C 6: 72,578,672 (GRCm39) V128A probably benign Het
Rnf17 A G 14: 56,697,432 (GRCm39) E442G probably damaging Het
Sec31b T C 19: 44,512,214 (GRCm39) N560S probably benign Het
Slc22a16 C T 10: 40,449,836 (GRCm39) Q91* probably null Het
Slc24a5 G T 2: 124,922,615 (GRCm39) A126S possibly damaging Het
Slc26a4 A T 12: 31,590,512 (GRCm39) D380E possibly damaging Het
Stc2 T A 11: 31,310,307 (GRCm39) D243V probably benign Het
Tshz2 G T 2: 169,727,965 (GRCm39) A385S probably damaging Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Vmn1r77 A G 7: 11,775,382 (GRCm39) T53A probably damaging Het
Zfp760 T A 17: 21,941,991 (GRCm39) S389T possibly damaging Het
Other mutations in Zeb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Zeb2 APN 2 44,887,287 (GRCm39) missense probably damaging 1.00
IGL01639:Zeb2 APN 2 44,887,269 (GRCm39) missense probably benign
IGL02016:Zeb2 APN 2 44,878,886 (GRCm39) missense possibly damaging 0.71
IGL02337:Zeb2 APN 2 44,887,242 (GRCm39) missense probably damaging 0.96
IGL02745:Zeb2 APN 2 44,884,487 (GRCm39) unclassified probably benign
IGL02893:Zeb2 APN 2 44,886,619 (GRCm39) missense probably benign 0.03
IGL03412:Zeb2 APN 2 44,892,720 (GRCm39) intron probably benign
Blight UTSW 2 45,000,040 (GRCm39) missense possibly damaging 0.95
Dropped UTSW 2 45,000,053 (GRCm39) missense possibly damaging 0.66
Okapi UTSW 2 44,887,168 (GRCm39) missense probably damaging 1.00
sable UTSW 2 44,887,330 (GRCm39) missense probably damaging 1.00
R0514:Zeb2 UTSW 2 44,892,659 (GRCm39) missense possibly damaging 0.52
R0603:Zeb2 UTSW 2 44,907,438 (GRCm39) missense probably benign 0.45
R0608:Zeb2 UTSW 2 44,886,138 (GRCm39) missense possibly damaging 0.87
R1236:Zeb2 UTSW 2 44,884,658 (GRCm39) missense probably damaging 1.00
R1529:Zeb2 UTSW 2 44,887,206 (GRCm39) missense probably damaging 1.00
R1581:Zeb2 UTSW 2 44,887,012 (GRCm39) missense probably damaging 0.99
R1636:Zeb2 UTSW 2 44,892,623 (GRCm39) missense probably damaging 1.00
R1924:Zeb2 UTSW 2 44,892,624 (GRCm39) missense probably damaging 1.00
R2012:Zeb2 UTSW 2 44,887,962 (GRCm39) missense probably damaging 1.00
R2097:Zeb2 UTSW 2 44,887,168 (GRCm39) missense probably damaging 1.00
R2156:Zeb2 UTSW 2 44,878,821 (GRCm39) missense probably benign 0.20
R4385:Zeb2 UTSW 2 44,913,074 (GRCm39) missense probably damaging 1.00
R4472:Zeb2 UTSW 2 44,913,023 (GRCm39) missense probably damaging 1.00
R4678:Zeb2 UTSW 2 44,886,353 (GRCm39) missense probably damaging 0.99
R4769:Zeb2 UTSW 2 44,886,447 (GRCm39) missense probably damaging 1.00
R4816:Zeb2 UTSW 2 44,887,780 (GRCm39) missense probably damaging 0.99
R4918:Zeb2 UTSW 2 44,886,894 (GRCm39) missense probably damaging 1.00
R4969:Zeb2 UTSW 2 44,888,931 (GRCm39) missense probably damaging 1.00
R5191:Zeb2 UTSW 2 44,892,612 (GRCm39) missense probably benign 0.00
R5195:Zeb2 UTSW 2 44,891,647 (GRCm39) missense probably damaging 1.00
R5322:Zeb2 UTSW 2 44,887,107 (GRCm39) missense probably damaging 1.00
R5699:Zeb2 UTSW 2 44,887,800 (GRCm39) missense probably damaging 1.00
R5750:Zeb2 UTSW 2 44,887,530 (GRCm39) missense probably damaging 0.96
R5764:Zeb2 UTSW 2 44,886,931 (GRCm39) missense possibly damaging 0.89
R5914:Zeb2 UTSW 2 44,887,064 (GRCm39) missense probably benign 0.00
R5918:Zeb2 UTSW 2 45,001,271 (GRCm39) intron probably benign
R6037:Zeb2 UTSW 2 44,878,652 (GRCm39) nonsense probably null
R6037:Zeb2 UTSW 2 44,878,652 (GRCm39) nonsense probably null
R6302:Zeb2 UTSW 2 44,887,771 (GRCm39) missense probably benign 0.18
R6372:Zeb2 UTSW 2 44,892,551 (GRCm39) missense probably damaging 1.00
R6402:Zeb2 UTSW 2 44,886,987 (GRCm39) missense probably damaging 1.00
R6492:Zeb2 UTSW 2 45,000,508 (GRCm39) intron probably benign
R6554:Zeb2 UTSW 2 44,887,524 (GRCm39) missense probably damaging 1.00
R6735:Zeb2 UTSW 2 45,000,028 (GRCm39) missense probably null 0.99
R6870:Zeb2 UTSW 2 44,878,922 (GRCm39) missense probably damaging 0.98
R6925:Zeb2 UTSW 2 44,884,541 (GRCm39) missense probably damaging 1.00
R6963:Zeb2 UTSW 2 44,878,811 (GRCm39) missense probably damaging 0.97
R6972:Zeb2 UTSW 2 44,887,330 (GRCm39) missense probably damaging 1.00
R7144:Zeb2 UTSW 2 45,000,053 (GRCm39) missense possibly damaging 0.66
R7178:Zeb2 UTSW 2 44,887,006 (GRCm39) missense probably damaging 0.97
R7379:Zeb2 UTSW 2 44,891,829 (GRCm39) splice site probably null
R7419:Zeb2 UTSW 2 44,886,359 (GRCm39) missense probably benign 0.20
R7580:Zeb2 UTSW 2 44,884,544 (GRCm39) missense probably damaging 1.00
R7599:Zeb2 UTSW 2 44,884,625 (GRCm39) missense probably damaging 1.00
R7625:Zeb2 UTSW 2 44,892,584 (GRCm39) missense probably damaging 1.00
R7917:Zeb2 UTSW 2 44,886,421 (GRCm39) missense possibly damaging 0.50
R8132:Zeb2 UTSW 2 44,879,142 (GRCm39) missense probably damaging 1.00
R8412:Zeb2 UTSW 2 44,888,964 (GRCm39) missense probably damaging 1.00
R8413:Zeb2 UTSW 2 44,886,183 (GRCm39) missense probably damaging 0.99
R8417:Zeb2 UTSW 2 44,913,008 (GRCm39) missense probably damaging 0.99
R8750:Zeb2 UTSW 2 44,887,939 (GRCm39) missense probably damaging 1.00
R8865:Zeb2 UTSW 2 44,886,139 (GRCm39) missense probably benign 0.02
R8916:Zeb2 UTSW 2 44,886,796 (GRCm39) missense probably damaging 0.99
R9068:Zeb2 UTSW 2 45,000,040 (GRCm39) missense possibly damaging 0.95
R9094:Zeb2 UTSW 2 45,003,136 (GRCm39) intron probably benign
R9139:Zeb2 UTSW 2 44,878,637 (GRCm39) missense possibly damaging 0.52
R9187:Zeb2 UTSW 2 45,000,040 (GRCm39) missense possibly damaging 0.95
R9309:Zeb2 UTSW 2 44,892,575 (GRCm39) missense probably damaging 0.99
R9310:Zeb2 UTSW 2 44,886,988 (GRCm39) missense probably benign 0.01
R9337:Zeb2 UTSW 2 44,912,912 (GRCm39) missense probably benign 0.35
R9350:Zeb2 UTSW 2 44,887,158 (GRCm39) missense possibly damaging 0.79
R9371:Zeb2 UTSW 2 44,888,912 (GRCm39) missense probably damaging 1.00
R9389:Zeb2 UTSW 2 44,887,920 (GRCm39) missense probably damaging 1.00
R9509:Zeb2 UTSW 2 44,887,876 (GRCm39) missense possibly damaging 0.74
R9600:Zeb2 UTSW 2 44,987,180 (GRCm39) missense unknown
R9674:Zeb2 UTSW 2 44,891,725 (GRCm39) missense probably damaging 1.00
R9756:Zeb2 UTSW 2 44,887,414 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TTGAGTCGGTGGTCAAGCTC -3'
(R):5'- AGTCCCTTTATGAACGGTGG -3'

Sequencing Primer
(F):5'- CAAGCTCTGGAGGCAAGCTTTG -3'
(R):5'- GTGTACACCCATCTGCTCAGAG -3'
Posted On 2018-07-23