Incidental Mutation 'R4769:Zeb2'
ID 366313
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 # R4769 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 44873644-45007407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44886447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 825 (E825A)
Ref Sequence ENSEMBL: ENSMUSP00000076111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028229] [ENSMUST00000068415] [ENSMUST00000076836] [ENSMUST00000176438] [ENSMUST00000176732] [ENSMUST00000177302] [ENSMUST00000200844] [ENSMUST00000201804]
AlphaFold Q9R0G7
Predicted Effect probably damaging
Transcript: ENSMUST00000028229
AA Change: E870A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: E870A

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 damaging
Transcript: ENSMUST00000068415
AA Change: E826A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: E826A

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 damaging
Transcript: ENSMUST00000076836
AA Change: E825A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: E825A

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 damaging
Transcript: ENSMUST00000176438
AA Change: E826A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: E826A

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 damaging
Transcript: ENSMUST00000177302
AA Change: E826A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: E826A

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: ENSMUST00000200844
AA Change: E802A

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: E802A

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 benign
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A C 14: 32,382,174 (GRCm39) S1264A probably benign Het
Adamts13 T G 2: 26,898,723 (GRCm39) Y1361* probably null Het
Ahrr A T 13: 74,362,331 (GRCm39) D389E probably damaging Het
Alx3 T C 3: 107,508,007 (GRCm39) F172S probably damaging Het
Antxrl A G 14: 33,795,027 (GRCm39) H485R possibly damaging Het
Aox4 A G 1: 58,298,307 (GRCm39) D1091G probably null Het
Btbd1 T A 7: 81,455,558 (GRCm39) Q271L probably benign Het
Cd209c A T 8: 3,994,953 (GRCm39) N70K probably benign Het
Cdc14a C T 3: 116,088,399 (GRCm39) probably null Het
Cenpe A G 3: 134,953,912 (GRCm39) M1641V probably benign Het
Clec2e G A 6: 129,077,790 (GRCm39) T16I probably benign Het
Clp1 T C 2: 84,556,219 (GRCm39) D87G possibly damaging Het
Dpy19l1 A T 9: 24,337,444 (GRCm39) F517I probably damaging Het
Dzip3 T C 16: 48,758,837 (GRCm39) N646S probably damaging Het
Ephx1 T A 1: 180,823,543 (GRCm39) Y188F possibly damaging Het
Etfa A T 9: 55,403,051 (GRCm39) H81Q possibly damaging Het
Gigyf2 T A 1: 87,368,571 (GRCm39) F1084I probably damaging Het
Heatr3 T C 8: 88,868,411 (GRCm39) probably null Het
Ift81 G T 5: 122,732,656 (GRCm39) H293N probably benign Het
Igkv9-120 G T 6: 68,027,351 (GRCm39) R88S possibly damaging Het
Il6 T G 5: 30,223,076 (GRCm39) L114* probably null Het
Ism2 A T 12: 87,346,355 (GRCm39) M42K probably benign Het
Lhx5 A G 5: 120,574,503 (GRCm39) E269G probably benign Het
Marveld1 T G 19: 42,136,434 (GRCm39) M116R possibly damaging Het
Micall2 A G 5: 139,692,641 (GRCm39) S911P probably damaging Het
Mier1 G A 4: 102,997,417 (GRCm39) R195H probably benign Het
Muc2 T A 7: 141,286,260 (GRCm39) probably null Het
Mybbp1a A G 11: 72,336,466 (GRCm39) K486R probably damaging Het
Ncapd2 A C 6: 125,162,708 (GRCm39) L179R probably damaging Het
Nos1 C T 5: 118,081,310 (GRCm39) Q1171* probably null Het
Nrg1 T A 8: 32,408,000 (GRCm39) I78F probably damaging Het
Or5d36 T G 2: 87,901,073 (GRCm39) T218P probably benign Het
Or6y1 T G 1: 174,276,524 (GRCm39) F112V possibly damaging Het
Plek2 C T 12: 78,953,664 (GRCm39) probably null Het
Plod2 A G 9: 92,477,325 (GRCm39) H339R probably damaging Het
Pold1 C T 7: 44,184,495 (GRCm39) C835Y probably damaging Het
Polr1a A G 6: 71,927,852 (GRCm39) I868V probably benign Het
Prss54 C A 8: 96,286,003 (GRCm39) V357L probably benign Het
Rbbp8 T A 18: 11,855,727 (GRCm39) S625T probably damaging Het
Rgs1 A T 1: 144,123,667 (GRCm39) L86Q probably damaging Het
Ripk4 T A 16: 97,545,262 (GRCm39) N462Y probably damaging Het
Rsf1 C T 7: 97,325,429 (GRCm39) L1011F probably damaging Het
Slc19a3 G A 1: 82,997,062 (GRCm39) T382I probably damaging Het
Slc9a2 G A 1: 40,765,534 (GRCm39) R308Q probably damaging Het
Top2b T A 14: 16,398,991 (GRCm38) L537Q probably damaging Het
Trim45 C A 3: 100,839,050 (GRCm39) probably benign Het
Umodl1 G T 17: 31,202,976 (GRCm39) R443M possibly damaging Het
Vmn1r11 G A 6: 57,114,597 (GRCm39) R87K probably damaging Het
Vmn1r78 T A 7: 11,886,725 (GRCm39) I112N probably damaging Het
Zfp930 A T 8: 69,679,344 (GRCm39) I50F probably benign 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
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
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'- ATGCCGAACACAGGGTTGTTG -3'
(R):5'- GTTGTGATCCTCCTCTCAGG -3'

Sequencing Primer
(F):5'- AACACAGGGTTGTTGCTTTTATTGTC -3'
(R):5'- TCAGGCTAACAAAATCTTCCCATTTC -3'
Posted On 2015-12-21