Incidental Mutation 'R4260:Adnp2'
ID |
322634 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adnp2
|
Ensembl Gene |
ENSMUSG00000053950 |
Gene Name |
ADNP homeobox 2 |
Synonyms |
8430420L05Rik, Zfp508 |
MMRRC Submission |
041073-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4260 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
80169526-80194697 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80180742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 52
(S52L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066743]
|
AlphaFold |
Q8CHC8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066743
AA Change: S52L
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000068560 Gene: ENSMUSG00000053950 AA Change: S52L
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 |
0.1613 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Best3 |
A |
T |
10: 116,860,131 (GRCm39) |
M464L |
probably benign |
Het |
Ccdc83 |
T |
G |
7: 89,877,599 (GRCm39) |
D281A |
possibly damaging |
Het |
Ccnf |
G |
A |
17: 24,445,741 (GRCm39) |
P502S |
probably damaging |
Het |
Cd109 |
T |
A |
9: 78,543,745 (GRCm39) |
S96R |
possibly damaging |
Het |
Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
Cntnap5a |
G |
T |
1: 116,374,325 (GRCm39) |
A946S |
probably benign |
Het |
Csnk2a2 |
A |
T |
8: 96,184,027 (GRCm39) |
D177E |
probably benign |
Het |
Cyld |
T |
C |
8: 89,468,019 (GRCm39) |
S551P |
probably damaging |
Het |
Degs1 |
A |
T |
1: 182,106,806 (GRCm39) |
I151N |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
Eif2ak3 |
G |
A |
6: 70,866,497 (GRCm39) |
R597H |
probably damaging |
Het |
Epg5 |
A |
T |
18: 78,002,336 (GRCm39) |
H585L |
possibly damaging |
Het |
Epg5 |
G |
C |
18: 78,058,914 (GRCm39) |
W1889C |
probably damaging |
Het |
Fam220a |
G |
C |
5: 143,548,762 (GRCm39) |
R58P |
possibly damaging |
Het |
Gemin5 |
G |
A |
11: 58,059,185 (GRCm39) |
A32V |
probably damaging |
Het |
Gm11189 |
A |
C |
11: 53,091,703 (GRCm39) |
|
noncoding transcript |
Het |
Grb2 |
A |
G |
11: 115,540,642 (GRCm39) |
I85T |
probably damaging |
Het |
Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
Kel |
A |
T |
6: 41,663,357 (GRCm39) |
|
probably benign |
Het |
Kifap3 |
C |
A |
1: 163,689,597 (GRCm39) |
T527K |
probably damaging |
Het |
Klra10 |
A |
G |
6: 130,249,644 (GRCm39) |
W214R |
probably damaging |
Het |
Luc7l3 |
A |
T |
11: 94,186,876 (GRCm39) |
|
probably benign |
Het |
Mrpl4 |
A |
G |
9: 20,918,988 (GRCm39) |
E211G |
possibly damaging |
Het |
Or4k39 |
T |
A |
2: 111,238,850 (GRCm39) |
|
noncoding transcript |
Het |
Or52n5 |
A |
C |
7: 104,587,803 (GRCm39) |
E23D |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,860,186 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,593,627 (GRCm39) |
|
probably null |
Het |
Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
Ptpdc1 |
A |
G |
13: 48,733,234 (GRCm39) |
M802T |
probably benign |
Het |
Ptprf |
A |
G |
4: 118,083,280 (GRCm39) |
F909S |
possibly damaging |
Het |
Raph1 |
A |
T |
1: 60,542,124 (GRCm39) |
M330K |
possibly damaging |
Het |
Rprd1a |
G |
A |
18: 24,621,352 (GRCm39) |
R276C |
possibly damaging |
Het |
Scg3 |
A |
G |
9: 75,558,979 (GRCm39) |
Y406H |
probably damaging |
Het |
Setdb1 |
G |
A |
3: 95,234,808 (GRCm39) |
S965F |
probably damaging |
Het |
Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
Spata17 |
T |
A |
1: 186,780,677 (GRCm39) |
T357S |
possibly damaging |
Het |
Tmt1a |
A |
G |
15: 100,210,951 (GRCm39) |
D141G |
probably benign |
Het |
Zap70 |
T |
A |
1: 36,818,189 (GRCm39) |
|
probably benign |
Het |
Zfp985 |
G |
A |
4: 147,668,029 (GRCm39) |
C299Y |
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 |
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'- GTGACTCTAGTGCCACTTCC -3'
(R):5'- TGAGCCTCATGGTCTAATGTTTCC -3'
Sequencing Primer
(F):5'- AGTGCCACTTCCTCCCAC -3'
(R):5'- ACAAGGTGCTAAGTTGCCC -3'
|
Posted On |
2015-06-20 |