Incidental Mutation 'R8413:Zeb2'
ID 652769
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 067767-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 44873644-45007407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44886183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 958 (Q958L)
Ref Sequence ENSEMBL: ENSMUSP00000028229 (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: Q958L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028229
Gene: ENSMUSG00000026872
AA Change: Q958L

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: Q914L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069685
Gene: ENSMUSG00000026872
AA Change: Q914L

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: Q913L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076111
Gene: ENSMUSG00000026872
AA Change: Q913L

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: Q914L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134849
Gene: ENSMUSG00000026872
AA Change: Q914L

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: Q914L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134747
Gene: ENSMUSG00000026872
AA Change: Q914L

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: Q890L

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144421
Gene: ENSMUSG00000026872
AA Change: Q890L

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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
Abca16 T A 7: 120,023,123 (GRCm39) D86E probably benign Het
Adamts5 A G 16: 85,663,506 (GRCm39) probably null Het
Arhgap31 T C 16: 38,423,283 (GRCm39) R928G possibly damaging Het
Birc6 T C 17: 74,853,388 (GRCm39) V164A possibly damaging Het
Cdh26 T A 2: 178,110,022 (GRCm39) H438Q probably damaging Het
Cfap65 T A 1: 74,956,328 (GRCm39) K1084* probably null Het
Csmd1 T C 8: 15,950,676 (GRCm39) H3511R probably damaging Het
Ebf1 T A 11: 44,534,274 (GRCm39) S178T possibly damaging Het
Efcab3 A C 11: 104,811,135 (GRCm39) K3192N unknown Het
Eln A G 5: 134,755,375 (GRCm39) V226A unknown Het
Fat4 A T 3: 39,063,128 (GRCm39) probably null Het
Gcn1 C T 5: 115,717,698 (GRCm39) T222I probably benign Het
Gm5624 T G 14: 44,799,347 (GRCm39) N70T Het
Gpc6 T A 14: 118,129,761 (GRCm39) V387E possibly damaging Het
Gyg1 C T 3: 20,179,619 (GRCm39) V255M probably damaging Het
Henmt1 T A 3: 108,864,965 (GRCm39) F146I probably damaging Het
Itpr3 T A 17: 27,330,900 (GRCm39) L1736Q probably damaging Het
Kcnh4 A G 11: 100,640,619 (GRCm39) V469A possibly damaging Het
Mybpc2 A G 7: 44,157,729 (GRCm39) L750P probably damaging Het
Naalad2 A G 9: 18,241,939 (GRCm39) V655A probably damaging Het
Nme8 C T 13: 19,858,689 (GRCm39) D289N probably benign Het
Or12k5 T G 2: 36,895,402 (GRCm39) T75P probably damaging Het
Or2t6 A G 14: 14,175,416 (GRCm38) V222A probably benign Het
Or4c104 T A 2: 88,587,024 (GRCm39) probably benign Het
Or4k15 C G 14: 50,364,827 (GRCm39) S264R probably benign Het
Or5aq6 T C 2: 86,923,502 (GRCm39) K80E probably benign Het
Or8g30 T A 9: 39,230,401 (GRCm39) K170* probably null Het
Phf24 T A 4: 42,937,906 (GRCm39) C173* probably null Het
Plcb2 A G 2: 118,549,304 (GRCm39) F353L probably damaging Het
Prss33 C A 17: 24,052,930 (GRCm39) W248L probably damaging Het
Rgs3 T G 4: 62,544,254 (GRCm39) L350R possibly damaging Het
Samd11 C T 4: 156,333,730 (GRCm39) G200D probably damaging Het
Sh3tc2 T A 18: 62,123,873 (GRCm39) V878E probably damaging Het
Sh3tc2 G C 18: 62,148,142 (GRCm39) G1284A probably benign Het
Skint5 A G 4: 113,572,900 (GRCm39) S780P unknown Het
Slc8a3 T C 12: 81,361,452 (GRCm39) K456E probably damaging Het
Smok2a T A 17: 13,444,499 (GRCm39) H25Q probably benign Het
Srrt A G 5: 137,298,589 (GRCm39) L225P possibly damaging Het
Stox1 C T 10: 62,500,754 (GRCm39) R602Q probably damaging Het
Tmem30a A T 9: 79,683,507 (GRCm39) C157S probably damaging Het
Tnks1bp1 T C 2: 84,892,622 (GRCm39) S850P probably damaging Het
Trpm6 A G 19: 18,809,849 (GRCm39) I1082V probably benign Het
Ttll5 T A 12: 85,965,895 (GRCm39) N646K probably benign Het
Vmn1r179 A T 7: 23,628,277 (GRCm39) Y156F probably benign Het
Vmn1r54 T A 6: 90,246,413 (GRCm39) L109H probably damaging Het
Wdr17 T C 8: 55,115,953 (GRCm39) I617V 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
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
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'- ACAACTAGGTTATCCTATGTGCC -3'
(R):5'- ACAGTGTTTCTTCATCGTCTGAG -3'

Sequencing Primer
(F):5'- ATGTGCCTTTCCTCAGAGCAAAG -3'
(R):5'- TGAGAATTCAGATGAGCCTCTG -3'
Posted On 2020-10-20