Incidental Mutation 'IGL02879:Nkapd1'
| ID |
362756 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nkapd1
|
| Ensembl Gene |
ENSMUSG00000059820 |
| Gene Name |
NKAP domain containing 1 |
| Synonyms |
LOC270156, AU019823 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.801)
|
| Stock # |
IGL02879
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
50516542-50528567 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 50520671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044051]
[ENSMUST00000131351]
[ENSMUST00000145139]
[ENSMUST00000147671]
[ENSMUST00000155435]
[ENSMUST00000171462]
|
| AlphaFold |
E9PUQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044051
|
| SMART Domains |
Protein: ENSMUSP00000039335
Gene: ENSMUSG00000039016
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-Tim10_DDP
|
14 |
76 |
5.1e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131351
|
| SMART Domains |
Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000145139
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147671
|
| SMART Domains |
Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155435
|
| SMART Domains |
Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171462
|
| SMART Domains |
Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAP
|
86 |
163 |
5.2e-26 |
PFAM |
|
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
G |
5: 81,659,966 (GRCm39) |
Y245C |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 31,051,067 (GRCm39) |
R507H |
probably damaging |
Het |
| Cacna1g |
A |
C |
11: 94,300,431 (GRCm39) |
I2118S |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,380,119 (GRCm39) |
|
probably benign |
Het |
| Ecscr |
T |
C |
18: 35,846,731 (GRCm39) |
N221S |
possibly damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,841 (GRCm39) |
D231G |
probably benign |
Het |
| Fastkd5 |
A |
G |
2: 130,456,341 (GRCm39) |
Y750H |
probably damaging |
Het |
| Gm42688 |
A |
G |
6: 83,084,125 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gtse1 |
T |
C |
15: 85,753,264 (GRCm39) |
|
probably benign |
Het |
| Il4ra |
A |
G |
7: 125,176,069 (GRCm39) |
E759G |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,885,178 (GRCm39) |
D1019G |
probably benign |
Het |
| Kcnh1 |
T |
C |
1: 191,959,223 (GRCm39) |
V259A |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,965,270 (GRCm39) |
L15F |
probably damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,993,422 (GRCm39) |
T1686S |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,146,697 (GRCm39) |
L2856V |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,498,796 (GRCm39) |
C1568S |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,798,157 (GRCm39) |
K352I |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,467,811 (GRCm39) |
D339G |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,534,054 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,163,873 (GRCm39) |
D847G |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,101,383 (GRCm39) |
T89I |
probably damaging |
Het |
| Runx1t1 |
T |
C |
4: 13,889,868 (GRCm39) |
I599T |
unknown |
Het |
| Serinc3 |
A |
G |
2: 163,474,172 (GRCm39) |
|
probably benign |
Het |
| Slc27a5 |
C |
T |
7: 12,728,971 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
C |
T |
8: 107,803,329 (GRCm39) |
S417N |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,325,612 (GRCm39) |
V500A |
probably damaging |
Het |
| Upk1b |
G |
A |
16: 38,596,640 (GRCm39) |
|
probably benign |
Het |
| Vmn1r81 |
C |
T |
7: 11,994,319 (GRCm39) |
M96I |
probably benign |
Het |
| Vmn2r11 |
A |
T |
5: 109,201,704 (GRCm39) |
Y267N |
possibly damaging |
Het |
|
| Other mutations in Nkapd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03182:Nkapd1
|
APN |
9 |
50,523,698 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0021:Nkapd1
|
UTSW |
9 |
50,521,725 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0021:Nkapd1
|
UTSW |
9 |
50,521,725 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0280:Nkapd1
|
UTSW |
9 |
50,520,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Nkapd1
|
UTSW |
9 |
50,519,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1438:Nkapd1
|
UTSW |
9 |
50,518,972 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1613:Nkapd1
|
UTSW |
9 |
50,519,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Nkapd1
|
UTSW |
9 |
50,518,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5983:Nkapd1
|
UTSW |
9 |
50,519,142 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6226:Nkapd1
|
UTSW |
9 |
50,519,070 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6228:Nkapd1
|
UTSW |
9 |
50,518,971 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6318:Nkapd1
|
UTSW |
9 |
50,518,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6923:Nkapd1
|
UTSW |
9 |
50,521,610 (GRCm39) |
missense |
probably benign |
|
|
R7841:Nkapd1
|
UTSW |
9 |
50,521,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8325:Nkapd1
|
UTSW |
9 |
50,521,608 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation