Incidental Mutation 'R5997:Nlrp14'
| ID |
480624 |
| 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 |
044176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R5997 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
106766197-106797309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106781703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 300
(T300K)
|
| 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: T300K
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: T300K
| 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 |
0.6205 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.5%
|
| Validation Efficiency |
100% (78/78) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
A |
T |
5: 124,227,878 (GRCm39) |
V121E |
possibly damaging |
Het |
| Acsbg3 |
A |
T |
17: 57,183,373 (GRCm39) |
D38V |
probably benign |
Het |
| Adamts20 |
T |
A |
15: 94,277,628 (GRCm39) |
Y278F |
probably damaging |
Het |
| Adcy7 |
A |
T |
8: 89,053,020 (GRCm39) |
D972V |
probably benign |
Het |
| Adgrf3 |
C |
A |
5: 30,403,360 (GRCm39) |
|
probably null |
Het |
| Ahdc1 |
G |
T |
4: 132,791,206 (GRCm39) |
G816C |
probably benign |
Het |
| Aifm3 |
A |
G |
16: 17,319,994 (GRCm39) |
K283E |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,984,016 (GRCm39) |
|
probably null |
Het |
| Ank1 |
T |
C |
8: 23,589,678 (GRCm39) |
L593P |
probably damaging |
Het |
| Apol11b |
T |
A |
15: 77,519,697 (GRCm39) |
T128S |
probably benign |
Het |
| C1qtnf7 |
C |
A |
5: 43,773,427 (GRCm39) |
T235K |
probably damaging |
Het |
| Camk2a |
A |
T |
18: 61,111,029 (GRCm39) |
I73F |
probably damaging |
Het |
| Ccdc121rt3 |
C |
T |
5: 112,502,874 (GRCm39) |
V277M |
possibly damaging |
Het |
| Cd109 |
G |
T |
9: 78,612,344 (GRCm39) |
V1244F |
possibly damaging |
Het |
| Cep164 |
A |
G |
9: 45,680,761 (GRCm39) |
L1240S |
possibly damaging |
Het |
| Cnga1 |
T |
A |
5: 72,761,918 (GRCm39) |
D532V |
probably damaging |
Het |
| Cyp4a14 |
A |
T |
4: 115,353,297 (GRCm39) |
L5* |
probably null |
Het |
| Cyp4a30b |
A |
T |
4: 115,316,588 (GRCm39) |
K405* |
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,403,302 (GRCm39) |
D3080G |
probably benign |
Het |
| Ddx1 |
T |
C |
12: 13,287,800 (GRCm39) |
D168G |
probably damaging |
Het |
| Dhx57 |
T |
G |
17: 80,553,235 (GRCm39) |
K1231Q |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,597,670 (GRCm39) |
N3640D |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,805,833 (GRCm39) |
L935Q |
probably damaging |
Het |
| Dus2 |
A |
T |
8: 106,772,698 (GRCm39) |
R269S |
probably benign |
Het |
| E230025N22Rik |
G |
A |
18: 36,822,161 (GRCm39) |
R201C |
possibly damaging |
Het |
| Erbb3 |
G |
A |
10: 128,419,054 (GRCm39) |
T269M |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,239 (GRCm39) |
R323G |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,735,061 (GRCm39) |
H233R |
probably benign |
Het |
| Ftsj3 |
A |
T |
11: 106,143,077 (GRCm39) |
D412E |
probably damaging |
Het |
| Fzd7 |
A |
T |
1: 59,523,703 (GRCm39) |
M529L |
probably benign |
Het |
| Fzr1 |
T |
A |
10: 81,206,660 (GRCm39) |
|
probably null |
Het |
| Ganc |
T |
G |
2: 120,261,086 (GRCm39) |
V257G |
possibly damaging |
Het |
| Garin1a |
T |
A |
6: 29,290,423 (GRCm39) |
L267* |
probably null |
Het |
| Gm4131 |
T |
C |
14: 62,702,207 (GRCm39) |
K254E |
probably damaging |
Het |
| Gm7347 |
G |
T |
5: 26,262,247 (GRCm39) |
Y91* |
probably null |
Het |
| Gm9857 |
G |
A |
3: 108,847,481 (GRCm39) |
|
probably benign |
Het |
| Grpel1 |
T |
C |
5: 36,622,592 (GRCm39) |
S19P |
probably benign |
Het |
| Gtf3c4 |
T |
C |
2: 28,723,723 (GRCm39) |
K670E |
possibly damaging |
Het |
| H2bc7 |
G |
A |
13: 23,758,277 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,579,924 (GRCm39) |
Q1938K |
possibly damaging |
Het |
| Hnrnpk |
T |
C |
13: 58,546,971 (GRCm39) |
D71G |
probably damaging |
Het |
| Hspa4l |
G |
A |
3: 40,722,411 (GRCm39) |
R311H |
probably damaging |
Het |
| Igkv3-5 |
T |
A |
6: 70,640,688 (GRCm39) |
F56L |
probably benign |
Het |
| Igkv6-20 |
T |
A |
6: 70,312,898 (GRCm39) |
T92S |
possibly damaging |
Het |
| Krt8 |
C |
T |
15: 101,909,029 (GRCm39) |
V200I |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,357,587 (GRCm39) |
T66S |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,778 (GRCm39) |
L135S |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,106,078 (GRCm39) |
Y701C |
probably damaging |
Het |
| Mcc |
G |
T |
18: 44,582,388 (GRCm39) |
L588M |
probably damaging |
Het |
| Mcidas |
T |
A |
13: 113,135,120 (GRCm39) |
L234Q |
probably damaging |
Het |
| Mtmr14 |
T |
A |
6: 113,257,575 (GRCm39) |
L208Q |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,893,747 (GRCm39) |
F1139L |
possibly damaging |
Het |
| Or2d36 |
A |
T |
7: 106,746,535 (GRCm39) |
E4V |
possibly damaging |
Het |
| Or2m13 |
T |
A |
16: 19,226,694 (GRCm39) |
H24L |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,448,870 (GRCm39) |
I179V |
probably benign |
Het |
| Or8b41 |
A |
T |
9: 38,055,097 (GRCm39) |
Y217F |
probably damaging |
Het |
| Orc2 |
A |
G |
1: 58,511,547 (GRCm39) |
I354T |
probably damaging |
Het |
| Pard3b |
G |
T |
1: 62,115,568 (GRCm39) |
S140I |
probably damaging |
Het |
| Pcgf5 |
A |
G |
19: 36,412,003 (GRCm39) |
D49G |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,609,041 (GRCm39) |
F388S |
probably damaging |
Het |
| Prokr2 |
A |
C |
2: 132,223,362 (GRCm39) |
I60S |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,391,900 (GRCm39) |
T50A |
possibly damaging |
Het |
| Rbms3 |
T |
C |
9: 116,548,457 (GRCm39) |
D61G |
probably damaging |
Het |
| Rhcg |
T |
A |
7: 79,250,262 (GRCm39) |
K274* |
probably null |
Het |
| Rnf112 |
C |
T |
11: 61,341,848 (GRCm39) |
V319M |
possibly damaging |
Het |
| Rnf44 |
A |
T |
13: 54,830,613 (GRCm39) |
S265T |
possibly damaging |
Het |
| Sf3a3 |
A |
G |
4: 124,615,851 (GRCm39) |
D168G |
probably damaging |
Het |
| Sik2 |
A |
G |
9: 50,806,642 (GRCm39) |
|
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,198,839 (GRCm39) |
L275F |
probably benign |
Het |
| Smtnl1 |
T |
C |
2: 84,645,722 (GRCm39) |
H383R |
probably damaging |
Het |
| Spns3 |
T |
G |
11: 72,429,904 (GRCm39) |
T175P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,042,312 (GRCm39) |
T1174A |
probably benign |
Het |
| Tradd |
C |
T |
8: 105,987,277 (GRCm39) |
E10K |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,339,819 (GRCm39) |
Y579N |
probably damaging |
Het |
| Uncx |
G |
A |
5: 139,533,344 (GRCm39) |
G470R |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,408,777 (GRCm39) |
M177K |
probably damaging |
Het |
| Wfs1 |
A |
T |
5: 37,125,094 (GRCm39) |
I599N |
probably damaging |
Het |
| Zfp454 |
G |
A |
11: 50,764,449 (GRCm39) |
H217Y |
probably damaging |
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 |
|
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 |
|
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'- AGCTGTCAGGGCTGTCTAAG -3'
(R):5'- AAAAGCAAAATGTCCTCTCTGG -3'
Sequencing Primer
(F):5'- TCAGGGCTGTCTAAGAATGC -3'
(R):5'- GCAAAATGTCCTCTCTGGTTAATTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation