Incidental Mutation 'IGL01615:Adnp2'
ID |
92358 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adnp2
|
Ensembl Gene |
ENSMUSG00000053950 |
Gene Name |
ADNP homeobox 2 |
Synonyms |
8430420L05Rik, Zfp508 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01615
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
80169526-80194697 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80171692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 906
(T906A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066743]
|
AlphaFold |
Q8CHC8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066743
AA Change: T906A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068560 Gene: ENSMUSG00000053950 AA Change: T906A
Domain | Start | End | E-Value | Type |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,347,141 (GRCm39) |
S1731G |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,465,044 (GRCm39) |
V650A |
probably benign |
Het |
Appl1 |
A |
G |
14: 26,681,427 (GRCm39) |
|
probably benign |
Het |
Avpr1b |
T |
G |
1: 131,527,885 (GRCm39) |
V136G |
probably damaging |
Het |
C6 |
T |
C |
15: 4,811,378 (GRCm39) |
F409L |
probably benign |
Het |
Ccdc121rt3 |
A |
G |
5: 112,503,696 (GRCm39) |
S3P |
possibly damaging |
Het |
Cdk20 |
A |
G |
13: 64,584,124 (GRCm39) |
|
probably benign |
Het |
Cenpf |
T |
C |
1: 189,385,381 (GRCm39) |
K2300E |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,457,993 (GRCm39) |
R399Q |
probably damaging |
Het |
Cimap3 |
G |
T |
3: 105,904,523 (GRCm39) |
|
probably null |
Het |
Cnnm1 |
A |
T |
19: 43,460,375 (GRCm39) |
S706C |
probably benign |
Het |
Cr1l |
T |
C |
1: 194,812,189 (GRCm39) |
I45V |
possibly damaging |
Het |
D130043K22Rik |
A |
T |
13: 25,083,779 (GRCm39) |
R1081S |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,416,774 (GRCm39) |
H573L |
probably null |
Het |
Eif5b |
T |
C |
1: 38,084,787 (GRCm39) |
L878S |
probably damaging |
Het |
Ets1 |
T |
C |
9: 32,644,235 (GRCm39) |
|
probably benign |
Het |
Evi5 |
A |
G |
5: 107,912,573 (GRCm39) |
L696P |
probably damaging |
Het |
Fbh1 |
C |
A |
2: 11,762,334 (GRCm39) |
E12* |
probably null |
Het |
Gabpb1 |
C |
A |
2: 126,495,520 (GRCm39) |
M77I |
possibly damaging |
Het |
Glul |
T |
A |
1: 153,782,222 (GRCm39) |
N152K |
probably benign |
Het |
Gm45234 |
T |
C |
6: 124,723,394 (GRCm39) |
Y613C |
probably damaging |
Het |
Gm5611 |
A |
G |
9: 16,941,647 (GRCm39) |
|
noncoding transcript |
Het |
Gpr156 |
T |
A |
16: 37,808,953 (GRCm39) |
I225K |
probably damaging |
Het |
Herc4 |
T |
C |
10: 63,126,461 (GRCm39) |
|
probably benign |
Het |
Iqsec3 |
C |
T |
6: 121,387,580 (GRCm39) |
V720M |
probably damaging |
Het |
Itgam |
A |
T |
7: 127,715,939 (GRCm39) |
H1104L |
possibly damaging |
Het |
Itgb3 |
T |
A |
11: 104,534,791 (GRCm39) |
D549E |
probably damaging |
Het |
Kctd7 |
A |
T |
5: 130,176,976 (GRCm39) |
M76L |
probably damaging |
Het |
Kdm3b |
T |
G |
18: 34,962,284 (GRCm39) |
N1523K |
probably damaging |
Het |
Map3k12 |
T |
A |
15: 102,412,186 (GRCm39) |
E318D |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,789 (GRCm39) |
Y181H |
probably damaging |
Het |
Mex3c |
G |
A |
18: 73,706,703 (GRCm39) |
A197T |
unknown |
Het |
Mvk |
A |
G |
5: 114,584,353 (GRCm39) |
D71G |
probably benign |
Het |
Ndufb3 |
T |
A |
1: 58,634,912 (GRCm39) |
L88* |
probably null |
Het |
Or56a4 |
A |
G |
7: 104,806,667 (GRCm39) |
V74A |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,567,144 (GRCm39) |
D180G |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,201 (GRCm39) |
R227S |
possibly damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Slc5a3 |
C |
T |
16: 91,876,000 (GRCm39) |
Q686* |
probably null |
Het |
Vmn2r75 |
T |
C |
7: 85,797,681 (GRCm39) |
I711V |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
Zfp354c |
A |
G |
11: 50,708,732 (GRCm39) |
S22P |
possibly damaging |
Het |
|
Other mutations in Adnp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00546:Adnp2
|
APN |
18 |
80,172,082 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00730:Adnp2
|
APN |
18 |
80,171,247 (GRCm39) |
missense |
probably benign |
|
IGL01681:Adnp2
|
APN |
18 |
80,171,103 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02549:Adnp2
|
APN |
18 |
80,172,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Adnp2
|
UTSW |
18 |
80,174,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Adnp2
|
UTSW |
18 |
80,174,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013:Adnp2
|
UTSW |
18 |
80,172,960 (GRCm39) |
missense |
probably damaging |
0.99 |
R0013:Adnp2
|
UTSW |
18 |
80,172,960 (GRCm39) |
missense |
probably damaging |
0.99 |
R0325:Adnp2
|
UTSW |
18 |
80,173,868 (GRCm39) |
missense |
probably benign |
0.06 |
R0478:Adnp2
|
UTSW |
18 |
80,172,549 (GRCm39) |
missense |
probably benign |
0.31 |
R0545:Adnp2
|
UTSW |
18 |
80,172,616 (GRCm39) |
missense |
probably benign |
0.31 |
R0788:Adnp2
|
UTSW |
18 |
80,173,219 (GRCm39) |
missense |
probably benign |
|
R1756:Adnp2
|
UTSW |
18 |
80,170,912 (GRCm39) |
makesense |
probably null |
|
R2043:Adnp2
|
UTSW |
18 |
80,171,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R2121:Adnp2
|
UTSW |
18 |
80,172,385 (GRCm39) |
missense |
probably benign |
0.00 |
R2260:Adnp2
|
UTSW |
18 |
80,171,664 (GRCm39) |
missense |
probably benign |
0.01 |
R2374:Adnp2
|
UTSW |
18 |
80,174,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R3416:Adnp2
|
UTSW |
18 |
80,171,373 (GRCm39) |
missense |
possibly damaging |
0.55 |
R3607:Adnp2
|
UTSW |
18 |
80,172,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R4012:Adnp2
|
UTSW |
18 |
80,174,036 (GRCm39) |
missense |
probably benign |
0.01 |
R4260:Adnp2
|
UTSW |
18 |
80,180,742 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4588:Adnp2
|
UTSW |
18 |
80,171,863 (GRCm39) |
missense |
probably benign |
0.22 |
R5158:Adnp2
|
UTSW |
18 |
80,180,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R5652:Adnp2
|
UTSW |
18 |
80,174,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R5717:Adnp2
|
UTSW |
18 |
80,171,479 (GRCm39) |
missense |
probably benign |
0.13 |
R6743:Adnp2
|
UTSW |
18 |
80,171,274 (GRCm39) |
missense |
probably benign |
0.00 |
R6786:Adnp2
|
UTSW |
18 |
80,172,960 (GRCm39) |
missense |
probably benign |
0.03 |
R6903:Adnp2
|
UTSW |
18 |
80,173,305 (GRCm39) |
missense |
probably benign |
|
R7105:Adnp2
|
UTSW |
18 |
80,171,366 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7507:Adnp2
|
UTSW |
18 |
80,174,068 (GRCm39) |
missense |
probably benign |
0.22 |
R7620:Adnp2
|
UTSW |
18 |
80,173,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R7914:Adnp2
|
UTSW |
18 |
80,174,056 (GRCm39) |
missense |
probably damaging |
0.96 |
R7991:Adnp2
|
UTSW |
18 |
80,172,537 (GRCm39) |
missense |
probably damaging |
0.97 |
R8290:Adnp2
|
UTSW |
18 |
80,185,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R8366:Adnp2
|
UTSW |
18 |
80,173,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R8712:Adnp2
|
UTSW |
18 |
80,174,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R8742:Adnp2
|
UTSW |
18 |
80,171,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R8932:Adnp2
|
UTSW |
18 |
80,185,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R9108:Adnp2
|
UTSW |
18 |
80,185,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R9163:Adnp2
|
UTSW |
18 |
80,172,200 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9378:Adnp2
|
UTSW |
18 |
80,172,637 (GRCm39) |
missense |
probably benign |
0.00 |
R9567:Adnp2
|
UTSW |
18 |
80,174,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R9664:Adnp2
|
UTSW |
18 |
80,185,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |