Incidental Mutation 'R1367:Nlrp14'
ID |
156072 |
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 |
039432-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R1367 (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 106782018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 405
(D405G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
[ENSMUST00000142623]
|
AlphaFold |
Q6B966 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084763
AA Change: D405G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000081819 Gene: ENSMUSG00000016626 AA Change: D405G
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 |
probably benign
Transcript: ENSMUST00000142623
|
SMART Domains |
Protein: ENSMUSP00000145427 Gene: ENSMUSG00000016626
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: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 86.6%
|
Validation Efficiency |
98% (48/49) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
C |
16: 14,261,250 (GRCm39) |
V676A |
probably damaging |
Het |
Acvr1b |
T |
C |
15: 101,091,819 (GRCm39) |
L33P |
possibly damaging |
Het |
Adamts12 |
T |
G |
15: 11,256,980 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
A |
8: 23,601,819 (GRCm39) |
|
probably benign |
Het |
Arhgef10 |
T |
A |
8: 14,990,225 (GRCm39) |
D233E |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,899,084 (GRCm39) |
*209W |
probably null |
Het |
Cebpz |
A |
G |
17: 79,230,742 (GRCm39) |
V825A |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,563,290 (GRCm39) |
F1575L |
probably damaging |
Het |
Exoc2 |
A |
T |
13: 31,066,256 (GRCm39) |
Y473* |
probably null |
Het |
F3 |
A |
G |
3: 121,523,023 (GRCm39) |
T78A |
probably damaging |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Gga2 |
G |
A |
7: 121,598,138 (GRCm39) |
R319* |
probably null |
Het |
Gid8 |
A |
G |
2: 180,355,025 (GRCm39) |
I10M |
probably benign |
Het |
Glrb |
A |
G |
3: 80,769,311 (GRCm39) |
W139R |
probably damaging |
Het |
H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
Hectd3 |
G |
T |
4: 116,854,367 (GRCm39) |
V310L |
probably null |
Het |
Insyn1 |
G |
T |
9: 58,406,263 (GRCm39) |
D58Y |
probably damaging |
Het |
Kif17 |
C |
A |
4: 138,005,305 (GRCm39) |
S290* |
probably null |
Het |
Kif26b |
A |
G |
1: 178,744,028 (GRCm39) |
N1375D |
probably damaging |
Het |
Lgr4 |
C |
G |
2: 109,821,480 (GRCm39) |
P121A |
probably damaging |
Het |
Ly75 |
A |
G |
2: 60,124,102 (GRCm39) |
|
probably null |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Nek3 |
T |
C |
8: 22,650,377 (GRCm39) |
|
probably benign |
Het |
Nin |
A |
T |
12: 70,090,703 (GRCm39) |
L904Q |
probably damaging |
Het |
Nuak1 |
C |
T |
10: 84,228,192 (GRCm39) |
|
probably benign |
Het |
Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
Plcg2 |
T |
A |
8: 118,341,977 (GRCm39) |
W1113R |
probably damaging |
Het |
Pms2 |
G |
A |
5: 143,862,731 (GRCm39) |
V613M |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Pxk |
T |
G |
14: 8,150,915 (GRCm38) |
|
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,820,119 (GRCm39) |
|
probably benign |
Het |
Slc41a1 |
A |
G |
1: 131,771,746 (GRCm39) |
T387A |
probably benign |
Het |
Slc44a2 |
T |
C |
9: 21,254,322 (GRCm39) |
V228A |
probably benign |
Het |
Slpi |
A |
G |
2: 164,196,787 (GRCm39) |
|
probably benign |
Het |
Tkfc |
A |
G |
19: 10,570,838 (GRCm39) |
S481P |
probably benign |
Het |
Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
Tns3 |
T |
C |
11: 8,398,704 (GRCm39) |
H1216R |
probably benign |
Het |
Ugt2b38 |
A |
T |
5: 87,571,973 (GRCm39) |
S20T |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
Usp48 |
T |
A |
4: 137,371,774 (GRCm39) |
S967T |
probably damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Zdhhc23 |
A |
G |
16: 43,794,513 (GRCm39) |
S54P |
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 |
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 |
R4368:Nlrp14
|
UTSW |
7 |
106,797,012 (GRCm39) |
missense |
probably benign |
0.01 |
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'- AGGCTGCTGTTGAAGGCATCTG -3'
(R):5'- ATACGCAACTGGGGTTCTTCGTC -3'
Sequencing Primer
(F):5'- GTGCTTTACCAGCAAAATCTCCG -3'
(R):5'- CAGTGGAGCAAGTCTTGAAATCTC -3'
|
Posted On |
2014-02-11 |