Incidental Mutation 'IGL02658:Nyap1'
| ID |
302437 |
| 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 # |
IGL02658
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137729144-137739430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137733746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 429
(I429T)
|
| 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: I429T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: I429T
| 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: I429T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: I429T
| 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: I429T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348
AA Change: I429T
| 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: I429T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,843,386 (GRCm39) |
Y946F |
probably benign |
Het |
| Abcb4 |
T |
G |
5: 8,984,240 (GRCm39) |
W657G |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,088,279 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
A |
G |
18: 38,124,047 (GRCm39) |
V351A |
probably benign |
Het |
| Bpifb9b |
A |
C |
2: 154,153,201 (GRCm39) |
Y89S |
probably benign |
Het |
| Carns1 |
C |
T |
19: 4,223,083 (GRCm39) |
C47Y |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,445,050 (GRCm39) |
H344Y |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,957,807 (GRCm39) |
T481A |
probably benign |
Het |
| Cyth1 |
T |
A |
11: 118,073,072 (GRCm39) |
D264V |
probably damaging |
Het |
| Dph1 |
C |
A |
11: 75,071,461 (GRCm39) |
L311F |
probably benign |
Het |
| Eif3l |
A |
G |
15: 78,961,142 (GRCm39) |
D65G |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 88,976,146 (GRCm39) |
F3Y |
probably benign |
Het |
| Hcn4 |
A |
T |
9: 58,766,748 (GRCm39) |
T770S |
unknown |
Het |
| Hydin |
A |
T |
8: 111,139,908 (GRCm39) |
I726F |
possibly damaging |
Het |
| Klf2 |
A |
G |
8: 73,072,940 (GRCm39) |
I7V |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,212,662 (GRCm39) |
L633H |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,893,313 (GRCm39) |
D206G |
probably benign |
Het |
| Nlrp4a |
T |
G |
7: 26,149,138 (GRCm39) |
D248E |
probably benign |
Het |
| Or1j10 |
T |
A |
2: 36,267,072 (GRCm39) |
C95S |
probably damaging |
Het |
| Or2p2 |
G |
A |
13: 21,256,982 (GRCm39) |
T163I |
probably damaging |
Het |
| Or2t6 |
T |
A |
14: 14,175,732 (GRCm38) |
M117L |
possibly damaging |
Het |
| Or51g1 |
A |
G |
7: 102,633,537 (GRCm39) |
M278T |
probably benign |
Het |
| Or8s16 |
A |
G |
15: 98,211,237 (GRCm39) |
S65P |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,296,254 (GRCm39) |
E1322G |
probably damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,792,689 (GRCm39) |
F217I |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,162,346 (GRCm39) |
I1389N |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,174,091 (GRCm39) |
Y239C |
probably benign |
Het |
| Psma6 |
A |
G |
12: 55,458,996 (GRCm39) |
E126G |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,551,141 (GRCm39) |
V46E |
probably damaging |
Het |
| Rap1gds1 |
G |
T |
3: 138,663,240 (GRCm39) |
H320N |
probably damaging |
Het |
| Sdhaf3 |
A |
G |
6: 7,038,992 (GRCm39) |
M105V |
probably damaging |
Het |
| Slc22a26 |
T |
A |
19: 7,765,613 (GRCm39) |
N345I |
probably benign |
Het |
| Sncaip |
T |
C |
18: 53,028,027 (GRCm39) |
I412T |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,178,530 (GRCm39) |
I864N |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,212,157 (GRCm39) |
Q1062* |
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Szrd1 |
A |
G |
4: 140,867,057 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
A |
15: 102,016,231 (GRCm39) |
|
probably benign |
Het |
| Trcg1 |
C |
A |
9: 57,149,511 (GRCm39) |
S361* |
probably null |
Het |
| Tshz3 |
T |
C |
7: 36,468,583 (GRCm39) |
F191L |
probably damaging |
Het |
| Ttc39a |
T |
C |
4: 109,280,090 (GRCm39) |
V124A |
probably damaging |
Het |
| Ttf1 |
T |
C |
2: 28,964,023 (GRCm39) |
I633T |
probably damaging |
Het |
| Zfp691 |
A |
G |
4: 119,027,704 (GRCm39) |
F176S |
probably damaging |
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 |
|
IGL03493:Nyap1
|
APN |
5 |
137,733,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation