Incidental Mutation 'IGL03493:Nyap1'
| ID |
490728 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nyap1
|
| Ensembl Gene |
ENSMUSG00000045348 |
| Gene Name |
neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1 |
| Synonyms |
6430598A04Rik, Nyap1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL03493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137729144-137739430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137733278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 585
(I585T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061789]
[ENSMUST00000118326]
[ENSMUST00000149512]
[ENSMUST00000212152]
|
| AlphaFold |
Q6PFX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061789
AA Change: I585T
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: I585T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
15 |
411 |
1.5e-127 |
PFAM |
|
low complexity region
|
431 |
452 |
N/A |
INTRINSIC |
|
Pfam:NYAP_C
|
528 |
833 |
1.7e-180 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118326
AA Change: I585T
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: I585T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
15 |
411 |
1.5e-127 |
PFAM |
|
low complexity region
|
431 |
452 |
N/A |
INTRINSIC |
|
Pfam:NYAP_C
|
528 |
833 |
1.7e-180 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149512
AA Change: I585T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348
AA Change: I585T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
15 |
411 |
7.1e-128 |
PFAM |
|
low complexity region
|
431 |
452 |
N/A |
INTRINSIC |
|
Pfam:NYAP_C
|
528 |
771 |
1.9e-121 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212152
AA Change: I585T
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Triple KO of Nyap1, Nyap2 and Myo16 results in decreased brain weight and cortex and striatum size and reduced neurite length in cortical neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart1 |
G |
A |
4: 72,769,884 (GRCm39) |
T253I |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
| Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
| C2cd2 |
T |
C |
16: 97,682,861 (GRCm39) |
D125G |
probably damaging |
Het |
| Col23a1 |
T |
C |
11: 51,455,632 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,094,617 (GRCm39) |
T392A |
probably benign |
Het |
| Hsd17b14 |
A |
T |
7: 45,205,515 (GRCm39) |
D42V |
probably damaging |
Het |
| Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,683,576 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
| Or13a27 |
A |
T |
7: 139,925,066 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
| Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Rad51c |
A |
T |
11: 87,288,579 (GRCm39) |
H201Q |
probably benign |
Het |
| Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
| Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
| Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
probably benign |
Het |
|
| Other mutations in Nyap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Nyap1
|
APN |
5 |
137,736,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02211:Nyap1
|
APN |
5 |
137,737,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02658:Nyap1
|
APN |
5 |
137,733,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0180:Nyap1
|
UTSW |
5 |
137,736,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Nyap1
|
UTSW |
5 |
137,733,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1215:Nyap1
|
UTSW |
5 |
137,733,395 (GRCm39) |
nonsense |
probably null |
|
|
R1741:Nyap1
|
UTSW |
5 |
137,731,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Nyap1
|
UTSW |
5 |
137,733,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2006:Nyap1
|
UTSW |
5 |
137,733,953 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2131:Nyap1
|
UTSW |
5 |
137,731,943 (GRCm39) |
intron |
probably null |
|
|
R2244:Nyap1
|
UTSW |
5 |
137,733,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4581:Nyap1
|
UTSW |
5 |
137,734,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Nyap1
|
UTSW |
5 |
137,733,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5151:Nyap1
|
UTSW |
5 |
137,734,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5533:Nyap1
|
UTSW |
5 |
137,733,726 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5695:Nyap1
|
UTSW |
5 |
137,733,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7201:Nyap1
|
UTSW |
5 |
137,734,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7210:Nyap1
|
UTSW |
5 |
137,736,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Nyap1
|
UTSW |
5 |
137,733,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7434:Nyap1
|
UTSW |
5 |
137,734,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Nyap1
|
UTSW |
5 |
137,731,236 (GRCm39) |
missense |
probably benign |
|
|
R7870:Nyap1
|
UTSW |
5 |
137,733,658 (GRCm39) |
nonsense |
probably null |
|
|
R7913:Nyap1
|
UTSW |
5 |
137,733,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8278:Nyap1
|
UTSW |
5 |
137,730,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8422:Nyap1
|
UTSW |
5 |
137,734,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9145:Nyap1
|
UTSW |
5 |
137,736,175 (GRCm39) |
missense |
probably benign |
|
|
R9367:Nyap1
|
UTSW |
5 |
137,734,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9441:Nyap1
|
UTSW |
5 |
137,733,194 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9568:Nyap1
|
UTSW |
5 |
137,733,394 (GRCm39) |
nonsense |
probably null |
|
|
R9680:Nyap1
|
UTSW |
5 |
137,733,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2017-10-20 |
Incidental Mutation