Incidental Mutation 'R1215:Nyap1'
| ID |
99572 |
| 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 |
039284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R1215 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137729144-137739430 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 137733395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 546
(W546*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061789]
[ENSMUST00000118326]
[ENSMUST00000149512]
[ENSMUST00000212152]
|
| AlphaFold |
Q6PFX7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061789
AA Change: W546*
|
| SMART Domains |
Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: W546*
| 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 null
Transcript: ENSMUST00000118326
AA Change: W546*
|
| SMART Domains |
Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: W546*
| 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 null
Transcript: ENSMUST00000119498
AA Change: W546*
|
| SMART Domains |
Protein: ENSMUSP00000112894
Gene: ENSMUSG00000045348
AA Change: W546*
| 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 null
Transcript: ENSMUST00000149512
AA Change: W546*
|
| SMART Domains |
Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348
AA Change: W546*
| 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 null
Transcript: ENSMUST00000212152
AA Change: W546*
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Art5 |
C |
T |
7: 101,747,116 (GRCm39) |
R123H |
probably damaging |
Het |
| Azin2 |
A |
G |
4: 128,843,489 (GRCm39) |
S66P |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,239,178 (GRCm39) |
E1865G |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,759,318 (GRCm39) |
C273R |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,239,666 (GRCm39) |
Y571C |
probably damaging |
Het |
| Cntfr |
C |
A |
4: 41,662,064 (GRCm39) |
W226L |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,868,227 (GRCm39) |
|
probably null |
Het |
| Cyp2a4 |
C |
T |
7: 26,014,226 (GRCm39) |
P468S |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,690,743 (GRCm39) |
D192E |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,741,520 (GRCm39) |
R237H |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,523,375 (GRCm39) |
Y1247* |
probably null |
Het |
| Grb14 |
T |
C |
2: 64,747,608 (GRCm39) |
S18G |
probably benign |
Het |
| Hs2st1 |
G |
A |
3: 144,170,902 (GRCm39) |
T90I |
possibly damaging |
Het |
| Mcc |
A |
T |
18: 44,601,561 (GRCm39) |
N589K |
possibly damaging |
Het |
| Mff |
T |
A |
1: 82,719,609 (GRCm39) |
S196T |
probably benign |
Het |
| Or13p10 |
A |
T |
4: 118,523,496 (GRCm39) |
M261L |
possibly damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,089,883 (GRCm39) |
S147P |
probably benign |
Het |
| Rsph14 |
T |
C |
10: 74,860,898 (GRCm39) |
H134R |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 90,953,170 (GRCm39) |
A274V |
possibly damaging |
Het |
| Slc43a2 |
T |
A |
11: 75,453,688 (GRCm39) |
W229R |
probably damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,756,596 (GRCm39) |
L575F |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,121 (GRCm39) |
I198N |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,773,862 (GRCm39) |
D413G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,689,479 (GRCm39) |
T33A |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,994,946 (GRCm39) |
D57E |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,507,426 (GRCm39) |
Q1176R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGCAATGACATGGGCACAG -3'
(R):5'- TGCGGTAAAAGTGACCACACACTC -3'
Sequencing Primer
(F):5'- TGGGCACAGGAGATGCTG -3'
(R):5'- GTGACCACACACTCGGTCC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation