Incidental Mutation 'R7914:Adnp2'
| ID |
647980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adnp2
|
| Ensembl Gene |
ENSMUSG00000053950 |
| Gene Name |
ADNP homeobox 2 |
| Synonyms |
8430420L05Rik, Zfp508 |
| MMRRC Submission |
045962-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80169526-80194697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80174056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 118
(R118W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066743]
|
| AlphaFold |
Q8CHC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066743
AA Change: R118W
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: R118W
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
G |
T |
10: 100,428,538 (GRCm39) |
V12F |
probably benign |
Het |
| Apaf1 |
G |
A |
10: 90,896,095 (GRCm39) |
R337C |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,225,032 (GRCm39) |
L59P |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,729,162 (GRCm39) |
E223G |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,788,761 (GRCm39) |
R536G |
possibly damaging |
Het |
| Bltp1 |
A |
T |
3: 37,000,432 (GRCm39) |
N1204Y |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,894,851 (GRCm39) |
E582G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,419,306 (GRCm39) |
N942S |
probably damaging |
Het |
| Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,953,672 (GRCm39) |
E283G |
probably benign |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
C |
A |
18: 36,828,605 (GRCm39) |
R24S |
possibly damaging |
Het |
| Epb41l1 |
T |
A |
2: 156,364,128 (GRCm39) |
M879K |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,065,760 (GRCm39) |
Y1226C |
probably damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,320,031 (GRCm39) |
E151G |
|
Het |
| Herc6 |
A |
G |
6: 57,584,106 (GRCm39) |
T322A |
probably benign |
Het |
| Inka1 |
T |
C |
9: 107,862,761 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,849,122 (GRCm39) |
Q2110L |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,526,537 (GRCm39) |
H340L |
probably damaging |
Het |
| Mkks |
A |
T |
2: 136,722,876 (GRCm39) |
F94I |
probably damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,013 (GRCm39) |
F155L |
probably benign |
Het |
| Pdlim1 |
T |
A |
19: 40,240,445 (GRCm39) |
I53F |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,316,421 (GRCm39) |
L26Q |
probably benign |
Het |
| Rasa4 |
T |
A |
5: 136,130,510 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
A |
G |
5: 21,110,896 (GRCm39) |
S481P |
probably damaging |
Het |
| Sae1 |
C |
A |
7: 16,121,648 (GRCm39) |
G10C |
unknown |
Het |
| Samd15 |
T |
C |
12: 87,248,559 (GRCm39) |
S415P |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,530,294 (GRCm39) |
I684F |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,406,565 (GRCm39) |
M120K |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,947,499 (GRCm39) |
M821K |
possibly damaging |
Het |
| Suv39h2 |
G |
A |
2: 3,465,453 (GRCm39) |
R301* |
probably null |
Het |
| Tgfbi |
A |
G |
13: 56,777,502 (GRCm39) |
T329A |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,183,111 (GRCm39) |
F151S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,747,525 (GRCm39) |
D4508G |
probably benign |
Het |
| Tyk2 |
C |
A |
9: 21,032,851 (GRCm39) |
C304F |
probably benign |
Het |
| Vmn1r121 |
T |
A |
7: 20,831,589 (GRCm39) |
T284S |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,100 (GRCm39) |
I708T |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,041,526 (GRCm39) |
D396E |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,239,062 (GRCm39) |
|
probably null |
Het |
| Zic4 |
T |
G |
9: 91,266,181 (GRCm39) |
V275G |
probably 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 |
|
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 |
|
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'- CACGTGCTTCTTCATGCTGTAG -3'
(R):5'- GGATCTTGGCAGTGAAGCAC -3'
Sequencing Primer
(F):5'- GTACAGAGTGTTGGAAAAGTTACAC -3'
(R):5'- GGTGACTTGTTCCTCTGTCTAAGAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation