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: 0.187)
|
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 |