Incidental Mutation 'R2043:Adnp2'
| ID |
225254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adnp2
|
| Ensembl Gene |
ENSMUSG00000053950 |
| Gene Name |
ADNP homeobox 2 |
| Synonyms |
8430420L05Rik, Zfp508 |
| MMRRC Submission |
040050-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80169526-80194697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 80171541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 956
(M956R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066743]
|
| AlphaFold |
Q8CHC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066743
AA Change: M956R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: M956R
| 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 |
|
| Meta Mutation Damage Score |
0.2361 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
G |
8: 25,486,669 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
T |
A |
6: 90,534,314 (GRCm39) |
D36E |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,804,249 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,872,890 (GRCm39) |
D718G |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,576,616 (GRCm39) |
P857L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,738,271 (GRCm39) |
K60R |
possibly damaging |
Het |
| Bub1 |
A |
T |
2: 127,646,140 (GRCm39) |
C947S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,573,049 (GRCm39) |
G2017D |
probably benign |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,864 (GRCm39) |
M585T |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,234,224 (GRCm39) |
N51K |
possibly damaging |
Het |
| Cftr |
T |
C |
6: 18,320,934 (GRCm39) |
F1415L |
probably benign |
Het |
| Cln5 |
T |
C |
14: 103,313,380 (GRCm39) |
S211P |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,386,991 (GRCm39) |
D378E |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,560,509 (GRCm39) |
|
probably benign |
Het |
| Dsn1 |
G |
A |
2: 156,847,273 (GRCm39) |
S55L |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,900 (GRCm39) |
F747S |
probably damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,874 (GRCm39) |
Y251C |
probably damaging |
Het |
| Fbxo25 |
A |
G |
8: 13,971,905 (GRCm39) |
I86V |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Glcci1 |
T |
A |
6: 8,582,590 (GRCm39) |
I130K |
probably damaging |
Het |
| Gm5424 |
A |
G |
10: 61,906,990 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma |
G |
A |
11: 98,557,046 (GRCm39) |
V54M |
possibly damaging |
Het |
| H3c3 |
A |
G |
13: 23,929,278 (GRCm39) |
F68S |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,874,322 (GRCm39) |
|
probably benign |
Het |
| Hspa13 |
A |
G |
16: 75,555,156 (GRCm39) |
L310S |
probably benign |
Het |
| Il6st |
A |
C |
13: 112,616,753 (GRCm39) |
Q100P |
probably benign |
Het |
| Ly6g6e |
G |
A |
17: 35,296,840 (GRCm39) |
R27Q |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,196,192 (GRCm39) |
I524K |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,189 (GRCm39) |
I761T |
probably damaging |
Het |
| Mypop |
T |
C |
7: 18,734,944 (GRCm39) |
|
probably benign |
Het |
| Or51ag1 |
A |
G |
7: 103,156,150 (GRCm39) |
M1T |
probably null |
Het |
| Pcdh20 |
G |
A |
14: 88,704,591 (GRCm39) |
T903I |
probably benign |
Het |
| Pdk4 |
A |
T |
6: 5,485,502 (GRCm39) |
C396S |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,628,919 (GRCm39) |
V699A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,498,530 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,723,811 (GRCm39) |
I1572L |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,167,351 (GRCm39) |
M241L |
possibly damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,056 (GRCm39) |
R3374H |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 86,914,882 (GRCm39) |
M519K |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,105,001 (GRCm39) |
I67N |
possibly damaging |
Het |
| Spart |
G |
A |
3: 55,034,969 (GRCm39) |
A452T |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,648,453 (GRCm39) |
F4686Y |
probably benign |
Het |
| Zfp146 |
T |
C |
7: 29,861,664 (GRCm39) |
K126R |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,781 (GRCm39) |
D131E |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,509,246 (GRCm39) |
D366G |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,769,291 (GRCm39) |
K313E |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,461,527 (GRCm39) |
H202Y |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGCAGCTTTCTCTTTACAG -3'
(R):5'- TACACTCCAAGTCGCTGGTAC -3'
Sequencing Primer
(F):5'- CTCTTTACAGGAAAGGTGGACTC -3'
(R):5'- GCCTGAGGTTGCACCAAAGATAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation