Incidental Mutation 'IGL02896:Nckap5l'
| ID |
363398 |
| 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? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
IGL02896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99319916-99355629 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 99325091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 471
(Q471K)
|
| 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: Q471K
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: Q471K
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
G |
8: 88,315,648 (GRCm39) |
D246G |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 68,875,991 (GRCm39) |
S504P |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,668,858 (GRCm39) |
I2566K |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,222,946 (GRCm39) |
V1108A |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,008,151 (GRCm39) |
F466I |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,635,886 (GRCm39) |
M226V |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,771,326 (GRCm39) |
D1023G |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,205 (GRCm39) |
I232V |
probably benign |
Het |
| Dolpp1 |
T |
C |
2: 30,286,242 (GRCm39) |
S114P |
probably damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,825 (GRCm39) |
S105T |
probably benign |
Het |
| Fndc7 |
T |
C |
3: 108,770,247 (GRCm39) |
I560V |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,757,707 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,810,058 (GRCm39) |
L113P |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,675,382 (GRCm39) |
H1066Q |
probably damaging |
Het |
| Katnb1 |
A |
G |
8: 95,822,656 (GRCm39) |
|
probably benign |
Het |
| Lrrd1 |
T |
A |
5: 3,901,473 (GRCm39) |
S593T |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,021,779 (GRCm39) |
R713G |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,489,164 (GRCm39) |
D373G |
probably damaging |
Het |
| Mrgpra6 |
T |
A |
7: 46,838,655 (GRCm39) |
D181V |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,557,013 (GRCm39) |
V828I |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,468,360 (GRCm39) |
|
probably null |
Het |
| Or12j5 |
T |
C |
7: 140,083,968 (GRCm39) |
|
probably null |
Het |
| Or1j15 |
A |
T |
2: 36,459,217 (GRCm39) |
L202F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,353 (GRCm39) |
L224* |
probably null |
Het |
| Pfn4 |
A |
G |
12: 4,825,451 (GRCm39) |
N96S |
probably benign |
Het |
| Ppp1r3c |
G |
A |
19: 36,710,865 (GRCm39) |
P302S |
probably benign |
Het |
| Senp2 |
T |
G |
16: 21,837,118 (GRCm39) |
Y122* |
probably null |
Het |
| Slc5a7 |
C |
A |
17: 54,600,045 (GRCm39) |
G123* |
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tent2 |
A |
T |
13: 93,304,945 (GRCm39) |
N280K |
probably damaging |
Het |
| Th |
C |
T |
7: 142,449,168 (GRCm39) |
R289Q |
probably damaging |
Het |
| Tigit |
C |
T |
16: 43,482,561 (GRCm39) |
V58I |
probably benign |
Het |
| Ush1c |
C |
A |
7: 45,847,839 (GRCm39) |
V810L |
probably benign |
Het |
| Vmn2r120 |
C |
A |
17: 57,816,008 (GRCm39) |
K782N |
probably damaging |
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 |
|
IGL02615:Nckap5l
|
APN |
15 |
99,327,263 (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 |
2015-12-18 |
Incidental Mutation