Incidental Mutation 'R4368:Nlrp14'
ID |
325851 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp14
|
Ensembl Gene |
ENSMUSG00000016626 |
Gene Name |
NLR family, pyrin domain containing 14 |
Synonyms |
GC-LRR, 4921520L01Rik, Nalp14, Nalp-iota |
MMRRC Submission |
041115-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R4368 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
106766197-106797309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106797012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 301
(K301E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
[ENSMUST00000142623]
|
AlphaFold |
Q6B966 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084763
AA Change: K960E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000081819 Gene: ENSMUSG00000016626 AA Change: K960E
Domain | Start | End | E-Value | Type |
Pfam:NACHT
|
81 |
249 |
1.6e-38 |
PFAM |
Blast:LRR
|
574 |
601 |
4e-6 |
BLAST |
LRR
|
629 |
656 |
1.67e0 |
SMART |
LRR
|
658 |
685 |
1.56e0 |
SMART |
LRR
|
686 |
713 |
2.05e-2 |
SMART |
LRR
|
715 |
742 |
7.9e-4 |
SMART |
LRR
|
743 |
770 |
1.25e-1 |
SMART |
LRR
|
772 |
799 |
4.68e-1 |
SMART |
LRR
|
800 |
827 |
9.08e-4 |
SMART |
LRR
|
829 |
856 |
1.59e1 |
SMART |
LRR
|
857 |
884 |
7.15e-1 |
SMART |
LRR
|
886 |
913 |
6.57e0 |
SMART |
LRR
|
914 |
941 |
3.36e1 |
SMART |
low complexity region
|
953 |
963 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130985
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142623
AA Change: K301E
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000145427 Gene: ENSMUSG00000016626 AA Change: K301E
Domain | Start | End | E-Value | Type |
LRR
|
27 |
54 |
9.1e-5 |
SMART |
LRR
|
56 |
83 |
3.4e-6 |
SMART |
LRR
|
84 |
111 |
5.4e-4 |
SMART |
LRR
|
113 |
140 |
2e-3 |
SMART |
LRR
|
141 |
168 |
4e-6 |
SMART |
LRR
|
170 |
197 |
6.7e-2 |
SMART |
LRR
|
198 |
225 |
3.1e-3 |
SMART |
LRR
|
227 |
254 |
2.8e-2 |
SMART |
LRR
|
255 |
282 |
1.4e-1 |
SMART |
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
98% (46/47) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
A |
G |
3: 59,754,199 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl2fm2 |
T |
C |
3: 59,659,387 (GRCm39) |
F280S |
probably damaging |
Het |
Adamts7 |
G |
A |
9: 90,077,904 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
C |
13: 81,641,029 (GRCm39) |
S3335R |
unknown |
Het |
Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,042,296 (GRCm39) |
Q2761* |
probably null |
Het |
Cdh19 |
G |
A |
1: 110,817,442 (GRCm39) |
Q767* |
probably null |
Het |
Cep120 |
G |
A |
18: 53,818,957 (GRCm39) |
|
probably null |
Het |
Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,738,629 (GRCm39) |
F753I |
possibly damaging |
Het |
Hspb7 |
A |
T |
4: 141,151,329 (GRCm39) |
E157V |
probably damaging |
Het |
Irx6 |
A |
G |
8: 93,405,029 (GRCm39) |
E299G |
probably damaging |
Het |
Jhy |
T |
A |
9: 40,828,440 (GRCm39) |
N489Y |
possibly damaging |
Het |
Klhl22 |
T |
C |
16: 17,607,137 (GRCm39) |
V481A |
possibly damaging |
Het |
Mapk13 |
A |
G |
17: 28,996,539 (GRCm39) |
|
probably null |
Het |
Meis1 |
A |
T |
11: 18,960,656 (GRCm39) |
|
probably benign |
Het |
Nol10 |
T |
C |
12: 17,429,293 (GRCm39) |
Y340H |
probably damaging |
Het |
Or2k2 |
T |
C |
4: 58,785,153 (GRCm39) |
S190G |
probably benign |
Het |
Paqr3 |
T |
C |
5: 97,256,150 (GRCm39) |
S75G |
probably damaging |
Het |
Pdgfa |
T |
C |
5: 138,972,061 (GRCm39) |
T113A |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
Psph |
T |
G |
5: 129,848,654 (GRCm39) |
K9T |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,644,852 (GRCm39) |
Y1163C |
probably damaging |
Het |
Scaf8 |
T |
C |
17: 3,221,470 (GRCm39) |
L319P |
unknown |
Het |
Slc4a7 |
C |
T |
14: 14,733,775 (GRCm38) |
R62W |
probably damaging |
Het |
Slc6a3 |
C |
A |
13: 73,709,031 (GRCm39) |
C318* |
probably null |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Taf1c |
A |
C |
8: 120,326,055 (GRCm39) |
S602R |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,464,958 (GRCm39) |
D229G |
probably benign |
Het |
Tor1a |
A |
G |
2: 30,857,382 (GRCm39) |
|
probably benign |
Het |
Trim45 |
T |
C |
3: 100,830,502 (GRCm39) |
I92T |
probably damaging |
Het |
Ttll8 |
G |
A |
15: 88,798,384 (GRCm39) |
P784S |
possibly damaging |
Het |
Tubg1 |
G |
T |
11: 101,016,190 (GRCm39) |
|
probably null |
Het |
Vmn1r178 |
A |
T |
7: 23,593,447 (GRCm39) |
N92I |
probably damaging |
Het |
Vmn2r87 |
A |
G |
10: 130,315,676 (GRCm39) |
V130A |
probably benign |
Het |
Wdr46 |
A |
G |
17: 34,160,120 (GRCm39) |
|
probably benign |
Het |
Yme1l1 |
A |
G |
2: 23,050,223 (GRCm39) |
H18R |
possibly damaging |
Het |
Zfp263 |
T |
A |
16: 3,562,770 (GRCm39) |
|
probably benign |
Het |
Zfp534 |
T |
C |
4: 147,760,015 (GRCm39) |
D218G |
probably benign |
Het |
Zscan12 |
T |
C |
13: 21,553,553 (GRCm39) |
V459A |
probably benign |
Het |
|
Other mutations in Nlrp14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Nlrp14
|
APN |
7 |
106,791,709 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL00337:Nlrp14
|
APN |
7 |
106,781,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00587:Nlrp14
|
APN |
7 |
106,780,974 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00654:Nlrp14
|
APN |
7 |
106,795,351 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00712:Nlrp14
|
APN |
7 |
106,796,448 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00765:Nlrp14
|
APN |
7 |
106,789,346 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01392:Nlrp14
|
APN |
7 |
106,797,120 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02325:Nlrp14
|
APN |
7 |
106,781,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02572:Nlrp14
|
APN |
7 |
106,781,929 (GRCm39) |
nonsense |
probably null |
|
IGL03180:Nlrp14
|
APN |
7 |
106,781,833 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03186:Nlrp14
|
APN |
7 |
106,785,877 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4403001:Nlrp14
|
UTSW |
7 |
106,784,099 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0025:Nlrp14
|
UTSW |
7 |
106,780,465 (GRCm39) |
splice site |
probably benign |
|
R0025:Nlrp14
|
UTSW |
7 |
106,780,465 (GRCm39) |
splice site |
probably benign |
|
R0148:Nlrp14
|
UTSW |
7 |
106,781,928 (GRCm39) |
missense |
probably benign |
|
R0720:Nlrp14
|
UTSW |
7 |
106,781,220 (GRCm39) |
missense |
probably benign |
0.19 |
R0842:Nlrp14
|
UTSW |
7 |
106,782,342 (GRCm39) |
missense |
probably benign |
0.08 |
R1367:Nlrp14
|
UTSW |
7 |
106,782,018 (GRCm39) |
missense |
probably benign |
0.01 |
R1472:Nlrp14
|
UTSW |
7 |
106,781,910 (GRCm39) |
missense |
probably benign |
0.33 |
R1483:Nlrp14
|
UTSW |
7 |
106,789,329 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1615:Nlrp14
|
UTSW |
7 |
106,795,370 (GRCm39) |
missense |
probably benign |
0.37 |
R1991:Nlrp14
|
UTSW |
7 |
106,795,407 (GRCm39) |
missense |
probably benign |
0.21 |
R2171:Nlrp14
|
UTSW |
7 |
106,781,709 (GRCm39) |
missense |
probably damaging |
0.99 |
R2287:Nlrp14
|
UTSW |
7 |
106,781,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R2394:Nlrp14
|
UTSW |
7 |
106,797,031 (GRCm39) |
missense |
probably benign |
0.13 |
R3151:Nlrp14
|
UTSW |
7 |
106,781,759 (GRCm39) |
missense |
probably benign |
0.32 |
R3732:Nlrp14
|
UTSW |
7 |
106,781,574 (GRCm39) |
missense |
probably benign |
0.00 |
R3793:Nlrp14
|
UTSW |
7 |
106,781,481 (GRCm39) |
missense |
probably benign |
0.00 |
R4652:Nlrp14
|
UTSW |
7 |
106,781,024 (GRCm39) |
missense |
probably benign |
0.05 |
R4772:Nlrp14
|
UTSW |
7 |
106,780,393 (GRCm39) |
missense |
probably benign |
0.07 |
R4886:Nlrp14
|
UTSW |
7 |
106,781,862 (GRCm39) |
missense |
probably benign |
0.02 |
R4896:Nlrp14
|
UTSW |
7 |
106,796,386 (GRCm39) |
frame shift |
probably null |
|
R4910:Nlrp14
|
UTSW |
7 |
106,785,790 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5925:Nlrp14
|
UTSW |
7 |
106,785,860 (GRCm39) |
missense |
probably benign |
0.35 |
R5997:Nlrp14
|
UTSW |
7 |
106,781,703 (GRCm39) |
missense |
probably benign |
0.11 |
R6192:Nlrp14
|
UTSW |
7 |
106,781,646 (GRCm39) |
missense |
probably benign |
0.00 |
R6230:Nlrp14
|
UTSW |
7 |
106,781,024 (GRCm39) |
missense |
probably benign |
0.05 |
R6799:Nlrp14
|
UTSW |
7 |
106,795,346 (GRCm39) |
missense |
probably benign |
0.37 |
R7116:Nlrp14
|
UTSW |
7 |
106,782,255 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7131:Nlrp14
|
UTSW |
7 |
106,784,021 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7387:Nlrp14
|
UTSW |
7 |
106,782,314 (GRCm39) |
missense |
probably damaging |
0.98 |
R7472:Nlrp14
|
UTSW |
7 |
106,789,251 (GRCm39) |
missense |
probably benign |
0.09 |
R7565:Nlrp14
|
UTSW |
7 |
106,781,094 (GRCm39) |
nonsense |
probably null |
|
R7810:Nlrp14
|
UTSW |
7 |
106,791,782 (GRCm39) |
nonsense |
probably null |
|
R8113:Nlrp14
|
UTSW |
7 |
106,791,715 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8551:Nlrp14
|
UTSW |
7 |
106,782,359 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8985:Nlrp14
|
UTSW |
7 |
106,796,436 (GRCm39) |
missense |
probably benign |
0.03 |
R9278:Nlrp14
|
UTSW |
7 |
106,797,049 (GRCm39) |
missense |
probably damaging |
0.99 |
R9436:Nlrp14
|
UTSW |
7 |
106,781,106 (GRCm39) |
missense |
probably benign |
0.07 |
R9625:Nlrp14
|
UTSW |
7 |
106,782,169 (GRCm39) |
missense |
probably benign |
0.20 |
R9715:Nlrp14
|
UTSW |
7 |
106,781,626 (GRCm39) |
missense |
probably benign |
|
R9744:Nlrp14
|
UTSW |
7 |
106,796,987 (GRCm39) |
missense |
probably damaging |
0.99 |
X0019:Nlrp14
|
UTSW |
7 |
106,782,134 (GRCm39) |
missense |
probably benign |
0.11 |
X0050:Nlrp14
|
UTSW |
7 |
106,795,370 (GRCm39) |
missense |
probably benign |
0.37 |
Z1088:Nlrp14
|
UTSW |
7 |
106,785,829 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Nlrp14
|
UTSW |
7 |
106,781,921 (GRCm39) |
missense |
probably benign |
0.17 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCCTTGTTAATATGCCACTTC -3'
(R):5'- AACCTACCCCTACTGAGTGC -3'
Sequencing Primer
(F):5'- AATATGCCACTTCTGTTTGCTG -3'
(R):5'- CAGTGCTTCTGGACATAAACAG -3'
|
Posted On |
2015-07-06 |