Incidental Mutation 'IGL02615:Nckap5l'
| ID |
300618 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nckap5l
|
| Ensembl Gene |
ENSMUSG00000023009 |
| Gene Name |
NCK-associated protein 5-like |
| Synonyms |
C230021P08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
IGL02615
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99319916-99355629 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99327263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 142
(P142L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023747]
[ENSMUST00000161948]
|
| AlphaFold |
Q6GQX2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023747
AA Change: P142L
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: P142L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
817 |
N/A |
INTRINSIC |
|
Pfam:NCKAP5
|
871 |
1173 |
6.8e-89 |
PFAM |
|
low complexity region
|
1205 |
1217 |
N/A |
INTRINSIC |
|
low complexity region
|
1302 |
1318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161004
|
| SMART Domains |
Protein: ENSMUSP00000125080
Gene: ENSMUSG00000023009
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCKAP5
|
5 |
112 |
1.6e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161948
|
| SMART Domains |
Protein: ENSMUSP00000123858
Gene: ENSMUSG00000023009
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,644,402 (GRCm39) |
E96* |
probably null |
Het |
| Adck5 |
C |
T |
15: 76,473,367 (GRCm39) |
S72L |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,046,238 (GRCm39) |
H404R |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,726,688 (GRCm39) |
V222E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l13 |
A |
T |
6: 120,839,828 (GRCm39) |
D42V |
probably damaging |
Het |
| Bhlhe22 |
C |
T |
3: 18,109,064 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,918,503 (GRCm39) |
T31S |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,597,076 (GRCm39) |
I669T |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,739,704 (GRCm39) |
T998A |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,189,672 (GRCm39) |
Y410C |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,772,128 (GRCm39) |
N526Y |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,307 (GRCm39) |
I70T |
possibly damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,030,793 (GRCm39) |
|
probably benign |
Het |
| Mrps34 |
A |
G |
17: 25,114,767 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,823,630 (GRCm39) |
I1053L |
probably benign |
Het |
| Platr26 |
T |
A |
2: 71,560,770 (GRCm39) |
|
noncoding transcript |
Het |
| Rag2 |
T |
A |
2: 101,459,913 (GRCm39) |
Y74* |
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,615 (GRCm39) |
M2275L |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,861,068 (GRCm39) |
L498Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,964,828 (GRCm39) |
V62A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,401 (GRCm39) |
I1421V |
probably benign |
Het |
| Spata31f1e |
C |
T |
4: 42,793,027 (GRCm39) |
M368I |
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,484,216 (GRCm39) |
H138R |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,143,768 (GRCm39) |
M1045K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,800 (GRCm39) |
T349M |
probably damaging |
Het |
| U2surp |
T |
G |
9: 95,375,284 (GRCm39) |
D146A |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,711,780 (GRCm39) |
M752V |
probably benign |
Het |
|
| Other mutations in Nckap5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02407:Nckap5l
|
APN |
15 |
99,321,008 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02568:Nckap5l
|
APN |
15 |
99,323,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:Nckap5l
|
APN |
15 |
99,325,091 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0653:Nckap5l
|
UTSW |
15 |
99,321,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Nckap5l
|
UTSW |
15 |
99,325,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Nckap5l
|
UTSW |
15 |
99,320,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4434:Nckap5l
|
UTSW |
15 |
99,320,744 (GRCm39) |
missense |
probably benign |
|
|
R4490:Nckap5l
|
UTSW |
15 |
99,324,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4606:Nckap5l
|
UTSW |
15 |
99,327,204 (GRCm39) |
unclassified |
probably benign |
|
|
R4817:Nckap5l
|
UTSW |
15 |
99,321,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Nckap5l
|
UTSW |
15 |
99,323,731 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5011:Nckap5l
|
UTSW |
15 |
99,324,457 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5013:Nckap5l
|
UTSW |
15 |
99,324,457 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5503:Nckap5l
|
UTSW |
15 |
99,323,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Nckap5l
|
UTSW |
15 |
99,325,587 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5715:Nckap5l
|
UTSW |
15 |
99,321,457 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6000:Nckap5l
|
UTSW |
15 |
99,324,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6072:Nckap5l
|
UTSW |
15 |
99,324,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Nckap5l
|
UTSW |
15 |
99,321,869 (GRCm39) |
missense |
probably benign |
|
|
R6198:Nckap5l
|
UTSW |
15 |
99,323,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Nckap5l
|
UTSW |
15 |
99,325,905 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6529:Nckap5l
|
UTSW |
15 |
99,324,475 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6751:Nckap5l
|
UTSW |
15 |
99,321,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Nckap5l
|
UTSW |
15 |
99,324,349 (GRCm39) |
missense |
probably benign |
|
|
R6869:Nckap5l
|
UTSW |
15 |
99,324,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Nckap5l
|
UTSW |
15 |
99,331,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7174:Nckap5l
|
UTSW |
15 |
99,321,884 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7239:Nckap5l
|
UTSW |
15 |
99,324,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Nckap5l
|
UTSW |
15 |
99,325,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Nckap5l
|
UTSW |
15 |
99,321,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Nckap5l
|
UTSW |
15 |
99,324,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7554:Nckap5l
|
UTSW |
15 |
99,327,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7562:Nckap5l
|
UTSW |
15 |
99,321,166 (GRCm39) |
splice site |
probably null |
|
|
R8307:Nckap5l
|
UTSW |
15 |
99,321,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Nckap5l
|
UTSW |
15 |
99,325,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Nckap5l
|
UTSW |
15 |
99,323,930 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8754:Nckap5l
|
UTSW |
15 |
99,327,290 (GRCm39) |
missense |
probably benign |
|
|
R8914:Nckap5l
|
UTSW |
15 |
99,323,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Nckap5l
|
UTSW |
15 |
99,321,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Nckap5l
|
UTSW |
15 |
99,327,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Nckap5l
|
UTSW |
15 |
99,322,082 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation