Incidental Mutation 'IGL02572:Nlrp14'
| ID |
299029 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlrp14
|
| Ensembl Gene |
ENSMUSG00000016626 |
| Gene Name |
NLR family, pyrin domain containing 14 |
| Synonyms |
GC-LRR, 4921520L01Rik, Nalp14, Nalp-iota |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
IGL02572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
106766197-106797309 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 106781929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 375
(Y375*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
[ENSMUST00000142623]
|
| AlphaFold |
Q6B966 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084763
AA Change: Y375*
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: Y375*
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
T |
C |
1: 85,652,892 (GRCm39) |
N92S |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,323,329 (GRCm39) |
L99P |
possibly damaging |
Het |
| Adam19 |
T |
A |
11: 46,022,548 (GRCm39) |
Y500* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,358,722 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,197,526 (GRCm39) |
I624T |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,838,041 (GRCm39) |
D244N |
possibly damaging |
Het |
| Atp5mf |
C |
A |
5: 145,124,047 (GRCm39) |
|
probably benign |
Het |
| Bbof1 |
G |
A |
12: 84,475,139 (GRCm39) |
D443N |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,978,573 (GRCm39) |
Q914* |
probably null |
Het |
| C330011M18Rik |
A |
G |
8: 84,793,208 (GRCm39) |
|
probably benign |
Het |
| Cgref1 |
A |
G |
5: 31,090,911 (GRCm39) |
V301A |
probably benign |
Het |
| Coa6 |
T |
C |
8: 127,149,480 (GRCm39) |
Y19H |
probably damaging |
Het |
| Cop1 |
T |
A |
1: 159,136,448 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,579,795 (GRCm39) |
S252P |
probably benign |
Het |
| Dnaaf5 |
T |
G |
5: 139,170,384 (GRCm39) |
S484A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,324,935 (GRCm39) |
S433C |
probably damaging |
Het |
| Efcab5 |
G |
A |
11: 77,028,714 (GRCm39) |
R206* |
probably null |
Het |
| Epop |
A |
T |
11: 97,519,027 (GRCm39) |
S361T |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,871,802 (GRCm39) |
T3530S |
probably benign |
Het |
| Flvcr1 |
A |
G |
1: 190,757,843 (GRCm39) |
Y108H |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,822,347 (GRCm39) |
S6027A |
probably benign |
Het |
| Galnt14 |
A |
G |
17: 73,842,262 (GRCm39) |
L209P |
probably damaging |
Het |
| Hif3a |
C |
A |
7: 16,784,513 (GRCm39) |
R25L |
probably null |
Het |
| Hsf5 |
A |
G |
11: 87,522,521 (GRCm39) |
|
probably benign |
Het |
| Il22ra2 |
A |
T |
10: 19,502,492 (GRCm39) |
T104S |
probably benign |
Het |
| Klrk1 |
A |
G |
6: 129,592,316 (GRCm39) |
S138P |
probably damaging |
Het |
| Lrp5 |
G |
T |
19: 3,664,283 (GRCm39) |
Q815K |
probably benign |
Het |
| Morn4 |
A |
G |
19: 42,064,886 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,443,943 (GRCm39) |
M1714K |
probably damaging |
Het |
| Or2aj6 |
T |
A |
16: 19,443,848 (GRCm39) |
M1L |
probably benign |
Het |
| Or5aq7 |
G |
A |
2: 86,938,710 (GRCm39) |
T7I |
possibly damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,735 (GRCm39) |
D17V |
possibly damaging |
Het |
| Pappa2 |
C |
T |
1: 158,678,786 (GRCm39) |
A877T |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,532,262 (GRCm39) |
A137T |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,212,044 (GRCm39) |
V2054A |
probably benign |
Het |
| Rad52 |
A |
G |
6: 119,892,188 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rusf1 |
A |
T |
7: 127,889,752 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,519,740 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
C |
T |
6: 54,489,186 (GRCm39) |
D312N |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,109 (GRCm39) |
Q352R |
probably benign |
Het |
| Slc25a28 |
A |
G |
19: 43,652,885 (GRCm39) |
Y259H |
probably damaging |
Het |
| Sppl2a |
T |
C |
2: 126,768,216 (GRCm39) |
M151V |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stra8 |
G |
A |
6: 34,916,094 (GRCm39) |
D280N |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,897,275 (GRCm39) |
D744E |
possibly damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,310 (GRCm39) |
T27A |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,333,818 (GRCm39) |
F99S |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,416,667 (GRCm39) |
T222A |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,913,677 (GRCm39) |
I1272T |
probably damaging |
Het |
| Tnpo1 |
A |
T |
13: 98,985,667 (GRCm39) |
I829N |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,641,613 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,598,215 (GRCm39) |
V19566A |
probably damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,040 (GRCm39) |
D81G |
probably damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,127,564 (GRCm39) |
V25A |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation