Incidental Mutation 'IGL02016:Zeb2'
ID 183771
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02016
Quality Score
Status
Chromosome 2
Chromosomal Location 44873644-45007407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44878886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1115 (I1115T)
Ref Sequence ENSEMBL: ENSMUSP00000076111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028229] [ENSMUST00000068415] [ENSMUST00000076836] [ENSMUST00000176438] [ENSMUST00000176732] [ENSMUST00000177302] [ENSMUST00000200844]
AlphaFold Q9R0G7
Predicted Effect possibly damaging
Transcript: ENSMUST00000028229
AA Change: I1160T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: I1160T

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 possibly damaging
Transcript: ENSMUST00000068415
AA Change: I1116T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: I1116T

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 possibly damaging
Transcript: ENSMUST00000076836
AA Change: I1115T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: I1115T

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 possibly damaging
Transcript: ENSMUST00000176438
AA Change: I1116T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: I1116T

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 possibly damaging
Transcript: ENSMUST00000177302
AA Change: I1116T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: I1116T

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 possibly damaging
Transcript: ENSMUST00000200844
AA Change: I1092T

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: I1092T

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
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik C A 2: 127,028,875 (GRCm39) G108V probably damaging Het
A2ml1 T C 6: 128,535,298 (GRCm39) E804G probably damaging Het
Abcg4 G A 9: 44,198,647 (GRCm39) T35M probably damaging Het
Acad9 A T 3: 36,142,635 (GRCm39) probably null Het
Adgrv1 T C 13: 81,545,572 (GRCm39) D5571G probably damaging Het
App T A 16: 84,853,409 (GRCm39) D223V unknown Het
Arhgap30 A G 1: 171,235,315 (GRCm39) E563G probably damaging Het
Atp6v1e2 A T 17: 87,251,822 (GRCm39) V192D probably damaging Het
Atr G A 9: 95,809,228 (GRCm39) V1969I probably benign Het
Bean1 T C 8: 104,937,550 (GRCm39) L43S possibly damaging Het
Cand1 A G 10: 119,048,473 (GRCm39) V436A probably damaging Het
Card6 T C 15: 5,137,738 (GRCm39) I39V probably damaging Het
Ccdc73 A G 2: 104,805,961 (GRCm39) T300A probably benign Het
Ccdc88c T C 12: 100,907,466 (GRCm39) T962A possibly damaging Het
Chd6 G T 2: 160,825,598 (GRCm39) L1169I probably damaging Het
Chrna7 A T 7: 62,753,583 (GRCm39) V312E probably damaging Het
Dna2 A G 10: 62,796,191 (GRCm39) N540S probably benign Het
Elavl2 T C 4: 91,149,172 (GRCm39) E209G probably damaging Het
Elmo2 A G 2: 165,136,932 (GRCm39) probably null Het
Fto A T 8: 92,393,034 (GRCm39) R494* probably null Het
Garre1 A G 7: 33,938,526 (GRCm39) M791T possibly damaging Het
Gm9966 A T 7: 95,608,014 (GRCm39) T112S unknown Het
Gtf3c1 A C 7: 125,267,211 (GRCm39) I940S probably damaging Het
Hecw2 C A 1: 53,870,702 (GRCm39) Q1426H possibly damaging Het
Iars2 A C 1: 185,035,503 (GRCm39) L579R probably damaging Het
Ifih1 A C 2: 62,437,328 (GRCm39) M537R probably benign Het
Kcnmb4 A G 10: 116,282,367 (GRCm39) probably benign Het
Large2 A G 2: 92,199,888 (GRCm39) V175A possibly damaging Het
Mad2l1bp A G 17: 46,464,428 (GRCm39) probably benign Het
Muc20 A T 16: 32,617,722 (GRCm39) F14Y possibly damaging Het
Myom2 A G 8: 15,175,195 (GRCm39) E1258G probably benign Het
Or8k28 A T 2: 86,285,841 (GRCm39) M258K probably damaging Het
Parp1 A T 1: 180,426,516 (GRCm39) probably null Het
Pramel22 T A 4: 143,381,889 (GRCm39) E269V possibly damaging Het
Prkra A T 2: 76,473,653 (GRCm39) probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scd1 C T 19: 44,388,746 (GRCm39) G235S probably benign Het
Sdk1 A G 5: 142,020,184 (GRCm39) H654R possibly damaging Het
Sesn3 A G 9: 14,231,633 (GRCm39) Y188C probably damaging Het
Slc26a4 T C 12: 31,585,666 (GRCm39) M461V probably damaging Het
Slc28a2 A G 2: 122,285,822 (GRCm39) I439V probably benign Het
Smc5 T A 19: 23,251,076 (GRCm39) N36I probably benign Het
Smurf2 A G 11: 106,713,504 (GRCm39) F745S probably damaging Het
Spata22 A G 11: 73,226,857 (GRCm39) N65S possibly damaging Het
Tanc1 A G 2: 59,673,934 (GRCm39) T1680A probably benign Het
Tnxb G A 17: 34,891,249 (GRCm39) V531M probably damaging Het
Trpm3 T G 19: 22,879,433 (GRCm39) Y727* probably null Het
Tssk1 A T 16: 17,712,758 (GRCm39) Y181F probably damaging Het
Ucp3 T A 7: 100,129,766 (GRCm39) V136E probably damaging Het
Uqcrfs1 A C 13: 30,729,097 (GRCm39) V45G probably benign Het
Uvrag A G 7: 98,748,649 (GRCm39) I101T probably benign Het
Vmn1r206 A T 13: 22,804,334 (GRCm39) L291Q probably damaging Het
Wnk2 T A 13: 49,210,381 (GRCm39) I1813F probably damaging Het
Zbtb3 T A 19: 8,780,579 (GRCm39) V64E probably damaging Het
Zfp280b C T 10: 75,874,945 (GRCm39) L275F 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
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
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
Posted On 2014-05-07