Incidental Mutation 'R5158:Adnp2'
| ID |
396854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adnp2
|
| Ensembl Gene |
ENSMUSG00000053950 |
| Gene Name |
ADNP homeobox 2 |
| Synonyms |
8430420L05Rik, Zfp508 |
| MMRRC Submission |
042740-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5158 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
80169526-80194697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80180758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 47
(Y47H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066743]
|
| AlphaFold |
Q8CHC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066743
AA Change: Y47H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: Y47H
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
| Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
| Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,206,198 (GRCm39) |
F477S |
possibly damaging |
Het |
| Ctdspl2 |
T |
A |
2: 121,811,774 (GRCm39) |
V205E |
probably benign |
Het |
| Dhx37 |
A |
T |
5: 125,492,216 (GRCm39) |
Y1128N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
| Fam149a |
T |
G |
8: 45,803,472 (GRCm39) |
I340L |
possibly damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
| Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
| Kif3a |
T |
C |
11: 53,479,578 (GRCm39) |
F430L |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
| Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
| Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
| Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
| Ngf |
A |
T |
3: 102,427,445 (GRCm39) |
M65L |
possibly damaging |
Het |
| Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
| Pigb |
T |
C |
9: 72,929,683 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,731,684 (GRCm39) |
F164S |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
| Rdh10 |
A |
T |
1: 16,178,221 (GRCm39) |
R164S |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
| Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
| Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
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 |
|
|
IGL01615:Adnp2
|
APN |
18 |
80,171,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGACTCTAGTGCCACTTCC -3'
(R):5'- CGCTGAGCCTCATGGTCTAATG -3'
Sequencing Primer
(F):5'- AGTGCCACTTCCTCCCAC -3'
(R):5'- ACAAGGTGCTAAGTTGCCC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation