Incidental Mutation 'R7379:Zeb2'
ID 596098
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
MMRRC Submission 045461-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7379 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 44873644-45007407 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 44891829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000028229] [ENSMUST00000068415] [ENSMUST00000076836] [ENSMUST00000176438] [ENSMUST00000176732] [ENSMUST00000177302] [ENSMUST00000200844] [ENSMUST00000201211] [ENSMUST00000201623] [ENSMUST00000201804] [ENSMUST00000201969]
AlphaFold Q9R0G7
Predicted Effect probably null
Transcript: ENSMUST00000028229
SMART Domains Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872

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
SMART Domains Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872

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
SMART Domains Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872

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
SMART Domains Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872

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: 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
SMART Domains Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872

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
SMART Domains Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872

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: ENSMUST00000201211
SMART Domains Protein: ENSMUSP00000144406
Gene: ENSMUSG00000026872

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
Predicted Effect probably null
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
Predicted Effect probably null
Transcript: ENSMUST00000201804
SMART Domains Protein: ENSMUSP00000144637
Gene: ENSMUSG00000026872

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 probably benign
Transcript: ENSMUST00000201969
SMART Domains Protein: ENSMUSP00000144141
Gene: ENSMUSG00000026872

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000202432
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (48/48)
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
Ankrd12 G A 17: 66,292,242 (GRCm39) R1064* probably null Het
Ccdc149 A G 5: 52,562,408 (GRCm39) I206T probably damaging Het
Ctu1 AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG AGGACCGGGCAGGAGCCACCTGTGTATCGCAG 7: 43,326,490 (GRCm39) probably benign Het
Cyp2j6 T C 4: 96,414,183 (GRCm39) T361A probably damaging Het
Cyp4a14 A T 4: 115,350,907 (GRCm39) probably null Het
Cyp7b1 A G 3: 18,151,538 (GRCm39) V225A probably benign Het
Esf1 A G 2: 139,996,854 (GRCm39) I503T probably benign Het
Flrt2 G A 12: 95,747,329 (GRCm39) V556I possibly damaging Het
Gaa T C 11: 119,174,525 (GRCm39) S791P probably benign Het
H2-T22 A G 17: 36,353,232 (GRCm39) probably null Het
Hexb A G 13: 97,317,672 (GRCm39) S342P probably damaging Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ift57 A G 16: 49,581,357 (GRCm39) E341G probably damaging Het
Itpkc A T 7: 26,927,194 (GRCm39) I240K probably benign Het
Kit A T 5: 75,808,412 (GRCm39) S719C probably damaging Het
Klf1 T A 8: 85,629,846 (GRCm39) Y224N possibly damaging Het
Krt77 T C 15: 101,769,709 (GRCm39) E387G probably damaging Het
L3mbtl1 T A 2: 162,802,899 (GRCm39) D347E probably damaging Het
Map1s A G 8: 71,366,219 (GRCm39) T375A possibly damaging Het
Mturn A G 6: 54,666,069 (GRCm39) T81A possibly damaging Het
Mug2 A G 6: 122,024,446 (GRCm39) E506G possibly damaging Het
Notch1 A G 2: 26,369,479 (GRCm39) F512S probably damaging Het
Or10g1 T C 14: 52,647,718 (GRCm39) T204A probably benign Het
Or12e13 T A 2: 87,664,123 (GRCm39) C247S probably damaging Het
Or4c12b T A 2: 89,647,033 (GRCm39) V115E probably benign Het
Or9s14 G T 1: 92,536,189 (GRCm39) C210F possibly damaging Het
Pcdhga10 A G 18: 37,880,619 (GRCm39) N127D probably damaging Het
Plb1 A G 5: 32,502,983 (GRCm39) I1148V probably damaging Het
Plcb1 A G 2: 135,212,430 (GRCm39) D1007G probably benign Het
Prdm16 T A 4: 154,613,316 (GRCm39) E37V probably damaging Het
Prss45 C A 9: 110,668,261 (GRCm39) N151K possibly damaging Het
Rngtt A T 4: 33,498,981 (GRCm39) K513* probably null Het
Serpinb10 T C 1: 107,460,117 (GRCm39) probably benign Het
Shc1 T C 3: 89,334,129 (GRCm39) V402A probably benign Het
Slc25a38 T A 9: 119,949,902 (GRCm39) L227Q probably benign Het
Slc6a13 A T 6: 121,313,798 (GRCm39) K514* probably null Het
Sorcs3 T C 19: 48,760,705 (GRCm39) V911A possibly damaging Het
Sptb A T 12: 76,657,651 (GRCm39) I1290N probably damaging Het
Sptbn1 T C 11: 30,089,292 (GRCm39) K657E possibly damaging Het
Stpg4 T A 17: 87,735,068 (GRCm39) probably null Het
Stx2 A G 5: 129,064,863 (GRCm39) V278A possibly damaging Het
Thoc1 A T 18: 9,992,902 (GRCm39) N558I probably benign Het
Trpm2 T C 10: 77,750,568 (GRCm39) T1343A probably benign Het
Usf3 T A 16: 44,040,939 (GRCm39) D1806E probably benign Het
Vmn2r106 C T 17: 20,488,037 (GRCm39) M787I possibly damaging Het
Wdfy4 A G 14: 32,873,566 (GRCm39) S248P 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
R6675:Zeb2 UTSW 2 44,887,457 (GRCm39) nonsense probably null
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
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'- ACCATATGCCTCTCGAGCTG -3'
(R):5'- AATTTTCGAGCGCAGTGTG -3'

Sequencing Primer
(F):5'- CCTCTCGAGCTGGGTGC -3'
(R):5'- TGAGCTGATTCGGACAAGCCTG -3'
Posted On 2019-11-18