Incidental Mutation 'R3607:Adnp2'
| ID |
269144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adnp2
|
| Ensembl Gene |
ENSMUSG00000053950 |
| Gene Name |
ADNP homeobox 2 |
| Synonyms |
8430420L05Rik, Zfp508 |
| MMRRC Submission |
040671-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3607 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80169526-80194697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80172284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 708
(N708K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066743]
|
| AlphaFold |
Q8CHC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066743
AA Change: N708K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: N708K
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930510E17Rik |
C |
A |
9: 53,191,083 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef17 |
C |
A |
7: 100,580,379 (GRCm39) |
G190W |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,406 (GRCm39) |
M2431K |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,005,859 (GRCm39) |
Y157C |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
| Cracr2b |
C |
T |
7: 141,046,059 (GRCm39) |
P370S |
possibly damaging |
Het |
| Etv1 |
A |
G |
12: 38,881,085 (GRCm39) |
Y66C |
probably damaging |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,780 (GRCm39) |
K288* |
probably null |
Het |
| Fam131a |
C |
T |
16: 20,520,345 (GRCm39) |
P181L |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,172,511 (GRCm39) |
E2734V |
probably damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gmfg |
T |
A |
7: 28,140,961 (GRCm39) |
|
probably null |
Het |
| Gtpbp8 |
T |
C |
16: 44,564,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,141,646 (GRCm39) |
E2G |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,129,099 (GRCm39) |
T2005P |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,886,552 (GRCm39) |
F112L |
probably damaging |
Het |
| Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
| Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,536,387 (GRCm39) |
D225E |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,119,775 (GRCm39) |
V177A |
probably damaging |
Het |
| Nkrf |
T |
G |
X: 36,153,730 (GRCm39) |
N184T |
probably benign |
Het |
| Nt5c1b |
A |
G |
12: 10,427,236 (GRCm39) |
N329D |
probably damaging |
Het |
| Ogdhl |
T |
A |
14: 32,057,318 (GRCm39) |
V308E |
probably damaging |
Het |
| Or14a258 |
A |
G |
7: 86,034,903 (GRCm39) |
C322R |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,975,066 (GRCm39) |
F791I |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,095,236 (GRCm39) |
T616K |
probably damaging |
Het |
| Psmd3 |
C |
T |
11: 98,581,780 (GRCm39) |
R302W |
probably damaging |
Het |
| Ptpn1 |
A |
G |
2: 167,817,427 (GRCm39) |
S355G |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,040,917 (GRCm39) |
N398D |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
| Rgl3 |
A |
G |
9: 21,898,987 (GRCm39) |
S151P |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,332,802 (GRCm39) |
C2670* |
probably null |
Het |
| Tex16 |
T |
A |
X: 111,003,667 (GRCm39) |
S159T |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,881,350 (GRCm39) |
I312T |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,427 (GRCm39) |
T141A |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,638,348 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
G |
X: 20,580,871 (GRCm39) |
F426L |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,420 (GRCm39) |
T1180K |
probably damaging |
Het |
| Wasf1 |
G |
C |
10: 40,812,380 (GRCm39) |
A390P |
unknown |
Het |
| Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
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 |
|
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'- TGCAGCAAGCTTTTCAGGC -3'
(R):5'- GGAATCCCCACGTATACACTGG -3'
Sequencing Primer
(F):5'- GCAAGCTTTTCAGGCTCAAG -3'
(R):5'- GCCTTGCAGCTGTTGGAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation