Incidental Mutation 'IGL01681:Adnp2'
ID103791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adnp2
Ensembl Gene ENSMUSG00000053950
Gene NameADNP homeobox 2
SynonymsZfp508, 8430420L05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01681
Quality Score
Status
Chromosome18
Chromosomal Location80126311-80151482 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80127888 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 1102 (E1102V)
Ref Sequence ENSEMBL: ENSMUSP00000068560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066743]
Predicted Effect probably damaging
Transcript: ENSMUST00000066743
AA Change: E1102V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: E1102V

DomainStartEndE-ValueType
ZnF_C2H2 73 96 4.57e0 SMART
ZnF_C2H2 106 128 1.06e2 SMART
ZnF_C2H2 155 178 5.48e0 SMART
ZnF_C2H2 215 240 7.29e0 SMART
low complexity region 277 290 N/A INTRINSIC
low complexity region 298 318 N/A INTRINSIC
low complexity region 333 355 N/A INTRINSIC
low complexity region 545 567 N/A INTRINSIC
low complexity region 625 648 N/A INTRINSIC
low complexity region 656 674 N/A INTRINSIC
ZnF_C2H2 696 718 9.96e0 SMART
ZnF_C2H2 724 746 4.99e1 SMART
low complexity region 747 761 N/A INTRINSIC
ZnF_C2H2 777 798 1.93e2 SMART
ZnF_C2H2 800 823 4.34e0 SMART
ZnF_C2H2 905 928 5.81e-2 SMART
HOX 1073 1135 3.25e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appl2 T A 10: 83,614,301 I236F possibly damaging Het
Asb15 C A 6: 24,567,138 T486K probably damaging Het
Bsdc1 T C 4: 129,465,348 probably null Het
Cts8 G T 13: 61,253,619 Q61K probably benign Het
Cyp2d34 C T 15: 82,617,131 probably null Het
Dnah12 A G 14: 26,722,160 T575A probably benign Het
Dync2h1 T C 9: 7,142,196 probably null Het
Fam170a A G 18: 50,282,235 D316G possibly damaging Het
Gtf2h3 T A 5: 124,594,791 L216Q probably damaging Het
Heatr6 T A 11: 83,765,000 S306T probably benign Het
Hey2 A G 10: 30,834,137 S207P probably benign Het
Kng2 T A 16: 22,997,017 probably benign Het
Lama2 C T 10: 27,265,045 E653K probably benign Het
Lrrcc1 T C 3: 14,548,226 V37A probably benign Het
Neb T C 2: 52,201,486 D5085G probably damaging Het
Nexn T C 3: 152,243,870 M321V possibly damaging Het
Nsmce3 A G 7: 64,872,473 I149T probably benign Het
Oxct1 T G 15: 4,101,844 S405A possibly damaging Het
Pdpr T A 8: 111,132,936 N703K probably damaging Het
Scn10a A T 9: 119,694,077 D83E probably damaging Het
Slc47a2 C T 11: 61,338,040 A104T probably damaging Het
Slc4a2 A G 5: 24,434,187 I393V probably damaging Het
Thoc6 A T 17: 23,669,883 L184M possibly damaging Het
Tjp2 C T 19: 24,134,849 probably null Het
Tmem63b A G 17: 45,663,571 L591P probably damaging Het
Tnrc6b A G 15: 80,879,311 probably null Het
Trmt5 G T 12: 73,282,603 probably benign Het
Ubap1l T A 9: 65,373,919 M293K probably benign Het
Yars A G 4: 129,206,142 E211G probably damaging Het
Zbbx A C 3: 75,052,478 Y595D probably damaging Het
Zc3h10 G A 10: 128,545,240 Q83* probably null Het
Zcchc3 T C 2: 152,414,005 N258S probably damaging Het
Other mutations in Adnp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Adnp2 APN 18 80128867 missense probably benign 0.00
IGL00730:Adnp2 APN 18 80128032 missense probably benign
IGL01615:Adnp2 APN 18 80128477 missense probably damaging 1.00
IGL02549:Adnp2 APN 18 80129118 missense probably damaging 1.00
R0003:Adnp2 UTSW 18 80130990 missense probably damaging 1.00
R0003:Adnp2 UTSW 18 80130990 missense probably damaging 1.00
R0013:Adnp2 UTSW 18 80129745 missense probably damaging 0.99
R0013:Adnp2 UTSW 18 80129745 missense probably damaging 0.99
R0325:Adnp2 UTSW 18 80130653 missense probably benign 0.06
R0478:Adnp2 UTSW 18 80129334 missense probably benign 0.31
R0545:Adnp2 UTSW 18 80129401 missense probably benign 0.31
R0788:Adnp2 UTSW 18 80130004 missense probably benign
R1756:Adnp2 UTSW 18 80127697 makesense probably null
R2043:Adnp2 UTSW 18 80128326 missense probably damaging 1.00
R2121:Adnp2 UTSW 18 80129170 missense probably benign 0.00
R2260:Adnp2 UTSW 18 80128449 missense probably benign 0.01
R2374:Adnp2 UTSW 18 80130987 missense probably damaging 1.00
R3416:Adnp2 UTSW 18 80128158 missense possibly damaging 0.55
R3607:Adnp2 UTSW 18 80129069 missense probably damaging 1.00
R4012:Adnp2 UTSW 18 80130821 missense probably benign 0.01
R4260:Adnp2 UTSW 18 80137527 missense possibly damaging 0.85
R4588:Adnp2 UTSW 18 80128648 missense probably benign 0.22
R5158:Adnp2 UTSW 18 80137543 missense probably damaging 0.99
R5652:Adnp2 UTSW 18 80130850 missense probably damaging 1.00
R5717:Adnp2 UTSW 18 80128264 missense probably benign 0.13
R6743:Adnp2 UTSW 18 80128059 missense probably benign 0.00
R6786:Adnp2 UTSW 18 80129745 missense probably benign 0.03
R6903:Adnp2 UTSW 18 80130090 missense probably benign
R7105:Adnp2 UTSW 18 80128151 missense possibly damaging 0.94
R7507:Adnp2 UTSW 18 80130853 missense probably benign 0.22
R7620:Adnp2 UTSW 18 80130487 missense probably damaging 1.00
R7914:Adnp2 UTSW 18 80130841 missense probably damaging 0.96
R7991:Adnp2 UTSW 18 80129322 missense probably damaging 0.97
R8290:Adnp2 UTSW 18 80142733 missense probably damaging 1.00
R8366:Adnp2 UTSW 18 80130510 missense probably damaging 1.00
Posted On2014-01-21