Incidental Mutation 'R0148:Nlrp14'
| ID |
22658 |
| 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 |
038432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R0148 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
106766197-106797309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106781928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 375
(Y375C)
|
| 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: Y375C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: Y375C
| 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 |
0.0786 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
86% (30/35) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,639,405 (GRCm39) |
|
probably null |
Het |
| Agtr1a |
T |
C |
13: 30,565,927 (GRCm39) |
S331P |
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,613,993 (GRCm39) |
N1545K |
probably damaging |
Het |
| Bahcc1 |
A |
T |
11: 120,159,230 (GRCm39) |
Q152H |
probably damaging |
Het |
| Bend3 |
T |
A |
10: 43,387,946 (GRCm39) |
Y780N |
probably damaging |
Het |
| Bod1l |
G |
T |
5: 41,976,040 (GRCm39) |
A1758E |
possibly damaging |
Het |
| Ctcfl |
T |
C |
2: 172,960,340 (GRCm39) |
D81G |
possibly damaging |
Het |
| Ddx39a |
C |
T |
8: 84,449,105 (GRCm39) |
R298C |
possibly damaging |
Het |
| Dock8 |
T |
C |
19: 25,096,823 (GRCm39) |
L577P |
probably benign |
Het |
| Drc1 |
A |
T |
5: 30,486,487 (GRCm39) |
N13I |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,320,878 (GRCm39) |
S104P |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,729,081 (GRCm39) |
N85K |
probably damaging |
Het |
| Epb41l4a |
T |
C |
18: 33,931,853 (GRCm39) |
T581A |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,433,307 (GRCm39) |
D446G |
possibly damaging |
Het |
| Fam209 |
G |
T |
2: 172,315,900 (GRCm39) |
G92C |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,115,027 (GRCm39) |
R193H |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,977,085 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
C |
T |
14: 70,876,313 (GRCm39) |
R49Q |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,939,077 (GRCm38) |
S2307P |
probably benign |
Het |
| Galr1 |
A |
G |
18: 82,423,695 (GRCm39) |
L194P |
probably benign |
Het |
| Gar1 |
T |
C |
3: 129,623,122 (GRCm39) |
H89R |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,267,362 (GRCm39) |
Y519F |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,396,554 (GRCm39) |
T601A |
probably benign |
Het |
| Gm10722 |
T |
"C,A" |
9: 3,001,405 (GRCm39) |
|
probably null |
Het |
| Gm5142 |
C |
T |
14: 59,416,119 (GRCm39) |
R13H |
possibly damaging |
Het |
| Gria2 |
A |
C |
3: 80,615,038 (GRCm39) |
W481G |
probably damaging |
Het |
| Homer2 |
T |
C |
7: 81,274,026 (GRCm39) |
T57A |
probably benign |
Het |
| Hpse2 |
A |
C |
19: 42,920,099 (GRCm39) |
|
probably null |
Het |
| Hspb7 |
T |
C |
4: 141,151,302 (GRCm39) |
I148T |
probably damaging |
Het |
| Htr1d |
C |
A |
4: 136,170,788 (GRCm39) |
T339K |
probably damaging |
Het |
| Il4ra |
T |
A |
7: 125,174,709 (GRCm39) |
C306S |
probably damaging |
Het |
| Kansl3 |
A |
T |
1: 36,392,897 (GRCm39) |
C225S |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,581,329 (GRCm39) |
C596Y |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,832,199 (GRCm39) |
H1714R |
probably benign |
Het |
| Marchf6 |
C |
T |
15: 31,490,758 (GRCm39) |
V293M |
probably damaging |
Het |
| Med12l |
A |
G |
3: 58,945,075 (GRCm39) |
D100G |
probably damaging |
Het |
| Mettl14 |
G |
A |
3: 123,165,043 (GRCm39) |
T316I |
probably damaging |
Het |
| Mmp15 |
A |
T |
8: 96,098,945 (GRCm39) |
N591Y |
probably benign |
Het |
| Mrpl53 |
T |
C |
6: 83,086,518 (GRCm39) |
L74P |
probably damaging |
Het |
| Mvp |
C |
T |
7: 126,589,037 (GRCm39) |
V577M |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,139,388 (GRCm39) |
K140E |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,706,026 (GRCm39) |
V48A |
possibly damaging |
Het |
| Ngf |
G |
T |
3: 102,417,119 (GRCm39) |
|
probably benign |
Het |
| Nipsnap3b |
C |
T |
4: 53,017,088 (GRCm39) |
A104V |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,915,202 (GRCm39) |
Y764H |
probably damaging |
Het |
| Or13d1 |
A |
T |
4: 52,971,232 (GRCm39) |
I204F |
probably benign |
Het |
| Or2w25 |
G |
A |
11: 59,504,320 (GRCm39) |
V177M |
probably damaging |
Het |
| Or7e177 |
T |
G |
9: 20,212,387 (GRCm39) |
M297R |
probably damaging |
Het |
| Pcdhb19 |
A |
T |
18: 37,630,235 (GRCm39) |
Q10L |
probably benign |
Het |
| Pdcl |
T |
C |
2: 37,242,142 (GRCm39) |
I203V |
probably benign |
Het |
| Peg10 |
C |
A |
6: 4,755,711 (GRCm39) |
R96S |
possibly damaging |
Het |
| Pknox1 |
T |
A |
17: 31,823,764 (GRCm39) |
N379K |
probably benign |
Het |
| Prodh |
T |
G |
16: 17,895,677 (GRCm39) |
Q360P |
probably damaging |
Het |
| Raf1 |
C |
T |
6: 115,609,934 (GRCm39) |
G202S |
probably benign |
Het |
| Rgs11 |
T |
A |
17: 26,426,433 (GRCm39) |
|
probably null |
Het |
| Rilp |
A |
T |
11: 75,401,059 (GRCm39) |
H29L |
probably damaging |
Het |
| Rtel1 |
T |
C |
2: 180,962,839 (GRCm39) |
C31R |
probably damaging |
Het |
| Rubcnl |
T |
A |
14: 75,279,898 (GRCm39) |
I427K |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,751,460 (GRCm39) |
R3706L |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,729,434 (GRCm39) |
D2396G |
probably damaging |
Het |
| Slc45a2 |
T |
C |
15: 11,025,954 (GRCm39) |
S435P |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 186,844,798 (GRCm39) |
V111A |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,116,608 (GRCm39) |
D881N |
possibly damaging |
Het |
| Sypl2 |
T |
A |
3: 108,126,411 (GRCm39) |
N67I |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 48,689,755 (GRCm39) |
Y1944C |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,062,246 (GRCm39) |
D2535E |
possibly damaging |
Het |
| Tkt |
T |
A |
14: 30,294,177 (GRCm39) |
I529N |
probably damaging |
Het |
| Trp53i11 |
T |
G |
2: 93,028,080 (GRCm39) |
V39G |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,761,659 (GRCm39) |
G997D |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,447,449 (GRCm39) |
V219A |
possibly damaging |
Het |
| Usp4 |
T |
A |
9: 108,268,870 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
G |
5: 102,065,277 (GRCm39) |
V1297A |
probably benign |
Het |
| Wdr46 |
T |
A |
17: 34,159,997 (GRCm39) |
F70I |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,998 (GRCm39) |
V303A |
unknown |
Het |
| Zdbf2 |
C |
T |
1: 63,343,165 (GRCm39) |
Q515* |
probably null |
Het |
| Zfhx2 |
A |
G |
14: 55,310,354 (GRCm39) |
Y731H |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGCACGGCTCTGTTCACATAC -3'
(R):5'- ACGCAACTGGGGTTCTTCGTCAAC -3'
Sequencing Primer
(F):5'- ACGGCTCTGTTCACATACTATATCTG -3'
(R):5'- CAGTGGAGCAAGTCTTGAAATCTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation