Incidental Mutation 'R4440:Adnp'
| ID |
329709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adnp
|
| Ensembl Gene |
ENSMUSG00000051149 |
| Gene Name |
activity-dependent neuroprotective protein |
| Synonyms |
|
| MMRRC Submission |
041705-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4440 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168022906-168049032 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 168026721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 191
(H191Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057793]
[ENSMUST00000088001]
[ENSMUST00000138667]
|
| AlphaFold |
Q9Z103 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057793
AA Change: H191Q
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000056809
Gene: ENSMUSG00000051149
AA Change: H191Q
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
74 |
97 |
6.57e0 |
SMART |
|
ZnF_C2H2
|
107 |
129 |
1.77e1 |
SMART |
|
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
165 |
188 |
1.29e1 |
SMART |
|
ZnF_C2H2
|
221 |
244 |
1.4e1 |
SMART |
|
low complexity region
|
423 |
437 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
446 |
468 |
8.62e1 |
SMART |
|
ZnF_C2H2
|
488 |
509 |
2.54e1 |
SMART |
|
ZnF_C2H2
|
511 |
534 |
1.03e-2 |
SMART |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
621 |
646 |
1.27e2 |
SMART |
|
HOX
|
756 |
817 |
2.95e-6 |
SMART |
|
low complexity region
|
957 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1023 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088001
AA Change: H191Q
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000085316
Gene: ENSMUSG00000051149
AA Change: H191Q
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
74 |
97 |
6.57e0 |
SMART |
|
ZnF_C2H2
|
107 |
129 |
1.77e1 |
SMART |
|
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
165 |
188 |
1.29e1 |
SMART |
|
ZnF_C2H2
|
221 |
244 |
1.4e1 |
SMART |
|
low complexity region
|
423 |
437 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
446 |
468 |
8.62e1 |
SMART |
|
ZnF_C2H2
|
488 |
509 |
2.54e1 |
SMART |
|
ZnF_C2H2
|
511 |
534 |
1.03e-2 |
SMART |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
621 |
646 |
1.27e2 |
SMART |
|
HOX
|
756 |
817 |
2.95e-6 |
SMART |
|
low complexity region
|
957 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1023 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138667
|
| SMART Domains |
Protein: ENSMUSP00000139070
Gene: ENSMUSG00000093752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_tranf_2_3
|
24 |
240 |
1.1e-13 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
28 |
153 |
8.4e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
28 |
199 |
3.8e-40 |
PFAM |
|
Pfam:Glyco_transf_21
|
87 |
200 |
1.5e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139984
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (46/49) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of a protein family characterized by nine zinc finger motifs followed by a homeobox domain. In vitro studies demonstrate that the encoded protein interacts with the brahma-related gene1-associated or hBRM factors (BAF) gene expression regulating complex, components of the protein translation machinery, and microtubule-associated proteins. This gene has been implicated in neuroprotection through various processes that include chromatin remodeling, splicing, cytoskeletal reorganization, and autophagy. Homozygous mutant knockout mice display embryonic lethality with defects in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Developmental defects including the failure of the cranial neural tube to close lead to embryonic death between E8.5 and E9. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
C |
17: 14,071,152 (GRCm39) |
W782R |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,475,124 (GRCm39) |
W270R |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,786,566 (GRCm39) |
G508C |
probably damaging |
Het |
| Armc8 |
T |
A |
9: 99,366,087 (GRCm39) |
H609L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,305,859 (GRCm39) |
|
probably null |
Het |
| Bicdl2 |
C |
T |
17: 23,886,590 (GRCm39) |
A393V |
probably benign |
Het |
| C6 |
A |
T |
15: 4,764,733 (GRCm39) |
K143M |
possibly damaging |
Het |
| Cfc1 |
T |
A |
1: 34,583,183 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,096,714 (GRCm39) |
I417M |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,345,935 (GRCm39) |
W2307* |
probably null |
Het |
| Dpysl5 |
T |
C |
5: 30,949,612 (GRCm39) |
F461L |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,697,446 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,550 (GRCm39) |
D5761G |
possibly damaging |
Het |
| Hdac4 |
C |
A |
1: 91,873,717 (GRCm39) |
G957C |
probably damaging |
Het |
| Klhl8 |
A |
G |
5: 104,015,433 (GRCm39) |
I421T |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,932,216 (GRCm39) |
C1337R |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,740,565 (GRCm39) |
N370S |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,001,463 (GRCm39) |
R1148L |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,201,785 (GRCm39) |
T1453I |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,225,011 (GRCm39) |
|
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,012,645 (GRCm39) |
V5D |
probably benign |
Het |
| Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
| Ntrk2 |
G |
C |
13: 59,208,126 (GRCm39) |
Q657H |
probably damaging |
Het |
| Or4a75 |
G |
T |
2: 89,448,512 (GRCm39) |
T8K |
probably damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,685 (GRCm39) |
E292K |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,927,832 (GRCm39) |
D861G |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,099,437 (GRCm39) |
F443I |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,835,555 (GRCm39) |
I332T |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,238,962 (GRCm39) |
V219A |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,355,686 (GRCm39) |
I245T |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,062,866 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,465,693 (GRCm39) |
R367Q |
possibly damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,254,752 (GRCm39) |
|
probably null |
Het |
| Tbr1 |
A |
T |
2: 61,635,182 (GRCm39) |
D44V |
possibly damaging |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,718 (GRCm39) |
R66G |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,666,353 (GRCm39) |
E185G |
probably benign |
Het |
|
| Other mutations in Adnp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Adnp
|
APN |
2 |
168,024,482 (GRCm39) |
missense |
probably benign |
|
|
IGL00500:Adnp
|
APN |
2 |
168,025,243 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01604:Adnp
|
APN |
2 |
168,026,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01967:Adnp
|
APN |
2 |
168,025,339 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02470:Adnp
|
APN |
2 |
168,025,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
C9142:Adnp
|
UTSW |
2 |
168,026,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0893:Adnp
|
UTSW |
2 |
168,025,647 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1167:Adnp
|
UTSW |
2 |
168,026,420 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1182:Adnp
|
UTSW |
2 |
168,026,716 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1480:Adnp
|
UTSW |
2 |
168,025,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1505:Adnp
|
UTSW |
2 |
168,025,661 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1906:Adnp
|
UTSW |
2 |
168,024,287 (GRCm39) |
missense |
probably benign |
|
|
R3711:Adnp
|
UTSW |
2 |
168,026,743 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3943:Adnp
|
UTSW |
2 |
168,026,980 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4686:Adnp
|
UTSW |
2 |
168,024,309 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4916:Adnp
|
UTSW |
2 |
168,029,537 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5072:Adnp
|
UTSW |
2 |
168,024,921 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5312:Adnp
|
UTSW |
2 |
168,026,108 (GRCm39) |
missense |
probably benign |
|
|
R5393:Adnp
|
UTSW |
2 |
168,024,869 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5598:Adnp
|
UTSW |
2 |
168,025,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6230:Adnp
|
UTSW |
2 |
168,024,452 (GRCm39) |
missense |
probably benign |
|
|
R7165:Adnp
|
UTSW |
2 |
168,024,287 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7176:Adnp
|
UTSW |
2 |
168,024,578 (GRCm39) |
missense |
probably benign |
|
|
R7238:Adnp
|
UTSW |
2 |
168,025,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7254:Adnp
|
UTSW |
2 |
168,025,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7581:Adnp
|
UTSW |
2 |
168,025,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7676:Adnp
|
UTSW |
2 |
168,025,367 (GRCm39) |
nonsense |
probably null |
|
|
R7863:Adnp
|
UTSW |
2 |
168,031,270 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8098:Adnp
|
UTSW |
2 |
168,024,452 (GRCm39) |
missense |
probably benign |
|
|
R8196:Adnp
|
UTSW |
2 |
168,025,092 (GRCm39) |
missense |
probably benign |
|
|
R8970:Adnp
|
UTSW |
2 |
168,031,290 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9153:Adnp
|
UTSW |
2 |
168,026,580 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9154:Adnp
|
UTSW |
2 |
168,026,580 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9228:Adnp
|
UTSW |
2 |
168,026,798 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9256:Adnp
|
UTSW |
2 |
168,025,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Adnp
|
UTSW |
2 |
168,031,233 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9434:Adnp
|
UTSW |
2 |
168,026,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9517:Adnp
|
UTSW |
2 |
168,024,866 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9621:Adnp
|
UTSW |
2 |
168,024,663 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9669:Adnp
|
UTSW |
2 |
168,026,918 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9737:Adnp
|
UTSW |
2 |
168,026,918 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACAACATTTGTGTGTCCGATC -3'
(R):5'- TTCATGCTCCAAACTCCAGC -3'
Sequencing Primer
(F):5'- ATGGCAGTGACCTGATAGCCTATC -3'
(R):5'- GCGCACCAAGTAGCAGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation