Incidental Mutation 'IGL02149:Aebp2'
ID281892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aebp2
Ensembl Gene ENSMUSG00000030232
Gene NameAE binding protein 2
SynonymsB230313N05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02149
Quality Score
Status
Chromosome6
Chromosomal Location140622663-140678472 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 140642284 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 360 (A360V)
Ref Sequence ENSEMBL: ENSMUSP00000092993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032359] [ENSMUST00000087614] [ENSMUST00000095350] [ENSMUST00000160836] [ENSMUST00000161335]
Predicted Effect probably benign
Transcript: ENSMUST00000032359
AA Change: A138V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232
AA Change: A138V

DomainStartEndE-ValueType
ZnF_C2H2 32 57 1.26e-2 SMART
ZnF_C2H2 66 93 5.92e0 SMART
ZnF_C2H2 99 123 2.2e-2 SMART
low complexity region 149 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000068583
AA Change: A159V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064302
Gene: ENSMUSG00000030232
AA Change: A159V

DomainStartEndE-ValueType
ZnF_C2H2 53 78 1.26e-2 SMART
ZnF_C2H2 87 114 5.92e0 SMART
ZnF_C2H2 120 144 2.2e-2 SMART
low complexity region 170 186 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087614
AA Change: A360V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
AA Change: A360V

DomainStartEndE-ValueType
low complexity region 1 71 N/A INTRINSIC
low complexity region 81 124 N/A INTRINSIC
low complexity region 128 199 N/A INTRINSIC
ZnF_C2H2 254 279 1.26e-2 SMART
ZnF_C2H2 288 315 5.92e0 SMART
ZnF_C2H2 321 345 2.2e-2 SMART
low complexity region 371 387 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095350
AA Change: A360V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
AA Change: A360V

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
ZnF_C2H2 77 102 1.26e-2 SMART
ZnF_C2H2 111 138 5.92e0 SMART
ZnF_C2H2 144 168 2.2e-2 SMART
low complexity region 194 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160772
Predicted Effect probably benign
Transcript: ENSMUST00000160836
AA Change: A138V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232
AA Change: A138V

DomainStartEndE-ValueType
ZnF_C2H2 32 57 1.26e-2 SMART
ZnF_C2H2 66 93 5.92e0 SMART
ZnF_C2H2 99 123 2.2e-2 SMART
low complexity region 149 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161335
AA Change: A138V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232
AA Change: A138V

DomainStartEndE-ValueType
ZnF_C2H2 32 57 1.26e-2 SMART
ZnF_C2H2 66 93 5.92e0 SMART
ZnF_C2H2 99 123 2.2e-2 SMART
low complexity region 149 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162100
Predicted Effect unknown
Transcript: ENSMUST00000162903
AA Change: A43V
SMART Domains Protein: ENSMUSP00000123897
Gene: ENSMUSG00000030232
AA Change: A43V

DomainStartEndE-ValueType
ZnF_C2H2 2 26 2.2e-2 SMART
low complexity region 52 68 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204724
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A T 9: 70,703,431 H67L probably damaging Het
Adgrb1 C T 15: 74,540,477 T435I probably damaging Het
Adgrd1 T A 5: 129,179,261 F652Y probably damaging Het
Adgrl4 T A 3: 151,500,354 F250Y possibly damaging Het
AW551984 A C 9: 39,592,924 M582R probably benign Het
B430306N03Rik T C 17: 48,316,992 V107A probably benign Het
Cage1 T C 13: 38,022,529 N447D probably damaging Het
Col17a1 T C 19: 47,668,632 D524G probably benign Het
Dpp6 A T 5: 27,538,024 I218F probably benign Het
Ep300 T G 15: 81,628,420 probably benign Het
Ephb2 C T 4: 136,693,914 C375Y probably damaging Het
Fastk A G 5: 24,444,053 V112A probably damaging Het
Fbxo11 T A 17: 87,993,759 R775S possibly damaging Het
Fbxw20 A G 9: 109,233,818 probably null Het
Hamp2 G T 7: 30,922,697 A50E probably damaging Het
Iltifb C A 10: 118,294,997 probably benign Het
Ints1 G A 5: 139,751,960 R2139C probably damaging Het
Itgae T A 11: 73,103,894 V24E probably benign Het
Jakmip3 G A 7: 139,007,346 V60M possibly damaging Het
Kcnk10 A C 12: 98,518,840 probably benign Het
Klra1 A T 6: 130,375,330 C150S probably damaging Het
Lhx9 A T 1: 138,831,434 V376E probably damaging Het
Mdm1 T A 10: 118,148,065 F199I probably damaging Het
Nipal3 G T 4: 135,466,852 T290K possibly damaging Het
Obsl1 C T 1: 75,503,820 E387K probably damaging Het
Olfr902 A G 9: 38,449,397 H175R probably damaging Het
Oxct1 A G 15: 4,091,229 Y265C probably damaging Het
Pccb G A 9: 100,985,190 H411Y probably damaging Het
Pkp1 A G 1: 135,886,747 S279P probably benign Het
Prdm14 C A 1: 13,125,439 G133C probably benign Het
Prkaa2 A T 4: 105,040,088 N309K probably benign Het
Shc2 T C 10: 79,622,268 D527G probably damaging Het
Shkbp1 C T 7: 27,342,639 probably benign Het
Skil T C 3: 31,097,707 V126A possibly damaging Het
Slc25a36 A T 9: 97,093,069 probably benign Het
Slc2a13 T C 15: 91,343,721 T423A probably benign Het
Spty2d1 A G 7: 47,008,144 probably benign Het
Stag1 A G 9: 100,887,389 D519G probably benign Het
Tmprss2 G T 16: 97,599,279 probably benign Het
Trim66 G T 7: 109,460,902 T759K possibly damaging Het
Trpc4ap C A 2: 155,639,547 A530S probably damaging Het
Ttn A T 2: 76,811,755 D11625E probably damaging Het
Ube4b T C 4: 149,398,684 I42M possibly damaging Het
Ubxn10 A G 4: 138,721,273 S31P probably benign Het
Ubxn7 A G 16: 32,375,270 Y220C probably damaging Het
Vmn1r234 A G 17: 21,229,007 Y61C probably benign Het
Other mutations in Aebp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Aebp2 APN 6 140642254 missense probably benign 0.29
IGL01935:Aebp2 APN 6 140637657 unclassified probably benign
floral UTSW 6 140637730 missense possibly damaging 0.90
Herbal UTSW 6 140637663 missense possibly damaging 0.91
Medicinal UTSW 6 140637726 nonsense probably null
PIT4453001:Aebp2 UTSW 6 140637686 nonsense probably null
R0030:Aebp2 UTSW 6 140637747 missense probably damaging 0.99
R0091:Aebp2 UTSW 6 140644074 critical splice donor site probably null
R0744:Aebp2 UTSW 6 140642364 splice site probably null
R1603:Aebp2 UTSW 6 140642253 missense probably damaging 0.98
R1990:Aebp2 UTSW 6 140633738 missense probably damaging 1.00
R2073:Aebp2 UTSW 6 140633694 missense probably benign 0.41
R2075:Aebp2 UTSW 6 140633694 missense probably benign 0.41
R2971:Aebp2 UTSW 6 140633898 critical splice donor site probably null
R3805:Aebp2 UTSW 6 140643949 frame shift probably null
R3911:Aebp2 UTSW 6 140647981 missense probably damaging 1.00
R3921:Aebp2 UTSW 6 140633735 missense probably damaging 1.00
R4020:Aebp2 UTSW 6 140642295 missense probably damaging 1.00
R4374:Aebp2 UTSW 6 140654258 utr 3 prime probably benign
R4856:Aebp2 UTSW 6 140644073 critical splice donor site probably null
R5022:Aebp2 UTSW 6 140637730 missense possibly damaging 0.90
R5140:Aebp2 UTSW 6 140633806 nonsense probably null
R5761:Aebp2 UTSW 6 140624217 unclassified probably benign
R6983:Aebp2 UTSW 6 140637663 missense possibly damaging 0.91
R7168:Aebp2 UTSW 6 140633700 missense probably damaging 0.98
R7259:Aebp2 UTSW 6 140633768 missense probably benign 0.03
R7463:Aebp2 UTSW 6 140637726 nonsense probably null
R7556:Aebp2 UTSW 6 140677411 missense probably benign 0.07
R7654:Aebp2 UTSW 6 140653748 splice site probably null
R7745:Aebp2 UTSW 6 140623858 missense unknown
R8258:Aebp2 UTSW 6 140637727 missense possibly damaging 0.82
R8259:Aebp2 UTSW 6 140637727 missense possibly damaging 0.82
Z1177:Aebp2 UTSW 6 140624094 missense unknown
Posted On2015-04-16