Incidental Mutation 'R2244:Nyap1'
| ID |
240602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nyap1
|
| Ensembl Gene |
ENSMUSG00000045348 |
| Gene Name |
neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1 |
| Synonyms |
6430598A04Rik, Nyap1 |
| MMRRC Submission |
040244-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R2244 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137729144-137739430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137733576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 486
(T486A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061789]
[ENSMUST00000118326]
[ENSMUST00000149512]
[ENSMUST00000212152]
|
| AlphaFold |
Q6PFX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061789
AA Change: T486A
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: T486A
| 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 benign
Transcript: ENSMUST00000118326
AA Change: T486A
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: T486A
| 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 benign
Transcript: ENSMUST00000119498
AA Change: T486A
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112894
Gene: ENSMUSG00000045348
AA Change: T486A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
1 |
410 |
1.2e-104 |
PFAM |
|
low complexity region
|
431 |
452 |
N/A |
INTRINSIC |
|
Pfam:NYAP_C
|
571 |
833 |
4e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149512
AA Change: T486A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348
AA Change: T486A
| 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 benign
Transcript: ENSMUST00000212152
AA Change: T486A
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
G |
7: 132,484,940 (GRCm39) |
T328A |
probably benign |
Het |
| Aen |
T |
C |
7: 78,557,045 (GRCm39) |
Y156H |
probably damaging |
Het |
| Aip |
T |
C |
19: 4,164,796 (GRCm39) |
D263G |
probably benign |
Het |
| Car1 |
T |
A |
3: 14,835,912 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,889,775 (GRCm39) |
F1357Y |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,064,564 (GRCm39) |
E482G |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,117 (GRCm39) |
T398A |
possibly damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,449 (GRCm39) |
F240S |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,575,602 (GRCm39) |
R208* |
probably null |
Het |
| Itsn1 |
A |
G |
16: 91,650,659 (GRCm39) |
N928S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,180,257 (GRCm39) |
D640G |
probably benign |
Het |
| Mfsd4a |
T |
A |
1: 131,956,243 (GRCm39) |
E507V |
probably benign |
Het |
| Or11g2 |
G |
A |
14: 50,856,114 (GRCm39) |
C145Y |
probably damaging |
Het |
| Pgam2 |
T |
C |
11: 5,751,723 (GRCm39) |
T238A |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,264,045 (GRCm39) |
D343G |
probably benign |
Het |
| Rbpjl |
G |
T |
2: 164,245,137 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
| Selp |
G |
T |
1: 163,964,855 (GRCm39) |
E506* |
probably null |
Het |
| Sgo2a |
T |
C |
1: 58,056,213 (GRCm39) |
I799T |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,003,087 (GRCm39) |
T187A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,755,689 (GRCm39) |
L103H |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Usp20 |
T |
C |
2: 30,900,343 (GRCm39) |
S286P |
possibly 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 |
|
IGL02658:Nyap1
|
APN |
5 |
137,733,746 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGGATCTTGACCATGGG -3'
(R):5'- CCGAACTCTCACAGCATGATCTG -3'
Sequencing Primer
(F):5'- TCTTGAGCCCAGCTGCTGTG -3'
(R):5'- GCATGATCTGCCCCAAGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation