Incidental Mutation 'R1194:Nkapl'
| ID |
100997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkapl
|
| Ensembl Gene |
ENSMUSG00000059395 |
| Gene Name |
NFKB activating protein-like |
| Synonyms |
4921504I05Rik |
| MMRRC Submission |
039266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R1194 (G1)
|
| Quality Score |
140 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
21651217-21652671 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21652478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 45
(L45P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068235]
|
| AlphaFold |
Q5SZT7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000068235
AA Change: L45P
|
| SMART Domains |
Protein: ENSMUSP00000065168
Gene: ENSMUSG00000059395
AA Change: L45P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAP
|
112 |
185 |
1.4e-17 |
PFAM |
|
Pfam:SynMuv_product
|
286 |
387 |
5.7e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, male germ cell apoptosis and azzospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029F12Rik |
T |
C |
13: 97,166,873 (GRCm39) |
R48G |
unknown |
Het |
| Dock4 |
T |
C |
12: 40,879,615 (GRCm39) |
F1533S |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,658,277 (GRCm39) |
E296G |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,580,841 (GRCm39) |
K717R |
probably benign |
Het |
| Emx2 |
C |
T |
19: 59,447,984 (GRCm39) |
Q12* |
probably null |
Het |
| Fubp1 |
TA |
T |
3: 151,937,606 (GRCm39) |
|
probably null |
Het |
| Gtsf1 |
A |
G |
15: 103,333,901 (GRCm39) |
I25T |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,860,221 (GRCm39) |
S232P |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,146,560 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or2m13 |
T |
A |
16: 19,225,930 (GRCm39) |
T280S |
possibly damaging |
Het |
| Prkg2 |
A |
G |
5: 99,119,785 (GRCm39) |
S445P |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slc12a1 |
G |
A |
2: 125,026,687 (GRCm39) |
V441I |
probably benign |
Het |
| Slc7a15 |
T |
A |
12: 8,585,772 (GRCm39) |
T8S |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,486,031 (GRCm39) |
R194G |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,981,287 (GRCm39) |
Y1531H |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
|
| Other mutations in Nkapl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0718:Nkapl
|
UTSW |
13 |
21,652,610 (GRCm39) |
start codon destroyed |
probably null |
|
|
R1352:Nkapl
|
UTSW |
13 |
21,652,230 (GRCm39) |
missense |
unknown |
|
|
R2009:Nkapl
|
UTSW |
13 |
21,651,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Nkapl
|
UTSW |
13 |
21,651,512 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4755:Nkapl
|
UTSW |
13 |
21,652,457 (GRCm39) |
missense |
unknown |
|
|
R5388:Nkapl
|
UTSW |
13 |
21,651,740 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5748:Nkapl
|
UTSW |
13 |
21,651,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5822:Nkapl
|
UTSW |
13 |
21,652,593 (GRCm39) |
missense |
unknown |
|
|
R7381:Nkapl
|
UTSW |
13 |
21,651,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7408:Nkapl
|
UTSW |
13 |
21,652,013 (GRCm39) |
missense |
unknown |
|
|
R7838:Nkapl
|
UTSW |
13 |
21,651,437 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0011:Nkapl
|
UTSW |
13 |
21,651,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Nkapl
|
UTSW |
13 |
21,652,473 (GRCm39) |
missense |
unknown |
|
|
Z1176:Nkapl
|
UTSW |
13 |
21,652,473 (GRCm39) |
missense |
unknown |
|
|
Z1177:Nkapl
|
UTSW |
13 |
21,652,473 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACGGTATCCACCACAGATGGGAG -3'
(R):5'- AAGTGAAGTGACTGTCCACGCC -3'
Sequencing Primer
(F):5'- CACCACAGATGGGAGAGGAAG -3'
(R):5'- GGAATTGACCCGCCTACAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation