Incidental Mutation 'PIT4403001:Nlrp14'
| ID |
555470 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
PIT4403001 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
106766197-106797309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106784099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 607
(Q607L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
[ENSMUST00000142623]
|
| AlphaFold |
Q6B966 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084763
AA Change: Q607L
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: Q607L
| 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 |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 84.9%
- 20x: 73.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
T |
C |
3: 138,129,939 (GRCm39) |
V255A |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,983,540 (GRCm39) |
I1608T |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,412,282 (GRCm39) |
D955E |
probably benign |
Het |
| Cacybp |
A |
G |
1: 160,033,764 (GRCm39) |
S113P |
probably damaging |
Het |
| Cenpu |
C |
T |
8: 47,015,564 (GRCm39) |
P160S |
possibly damaging |
Het |
| Clstn3 |
C |
T |
6: 124,434,982 (GRCm39) |
G348D |
probably damaging |
Het |
| Cmtr1 |
T |
G |
17: 29,917,047 (GRCm39) |
|
probably null |
Het |
| Dlgap2 |
T |
C |
8: 14,881,528 (GRCm39) |
S867P |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,831 (GRCm39) |
C1654S |
probably damaging |
Het |
| Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
| Garnl3 |
A |
T |
2: 32,880,770 (GRCm39) |
L874Q |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,315 (GRCm39) |
V478A |
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,972,134 (GRCm39) |
I417T |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
| Ighv1-4 |
A |
G |
12: 114,450,824 (GRCm39) |
S95P |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,136,993 (GRCm39) |
T723I |
probably benign |
Het |
| Jup |
A |
G |
11: 100,268,913 (GRCm39) |
|
probably null |
Het |
| Kcng3 |
A |
G |
17: 83,895,611 (GRCm39) |
L285S |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,285,114 (GRCm39) |
P593S |
probably damaging |
Het |
| Matcap1 |
T |
C |
8: 106,011,376 (GRCm39) |
N253D |
probably benign |
Het |
| Mstn |
T |
C |
1: 53,100,944 (GRCm39) |
M7T |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,077,533 (GRCm39) |
K889N |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,124,805 (GRCm39) |
T1787A |
probably damaging |
Het |
| Ntf3 |
C |
T |
6: 126,078,789 (GRCm39) |
R239Q |
probably damaging |
Het |
| Nup85 |
G |
T |
11: 115,472,646 (GRCm39) |
R492L |
probably damaging |
Het |
| Ogfod3 |
A |
C |
11: 121,087,561 (GRCm39) |
|
probably null |
Het |
| Or1j18 |
T |
A |
2: 36,624,930 (GRCm39) |
I199K |
probably damaging |
Het |
| Or4c115 |
T |
A |
2: 88,927,420 (GRCm39) |
M284L |
probably benign |
Het |
| Or4k40 |
A |
T |
2: 111,251,165 (GRCm39) |
F44I |
probably benign |
Het |
| Or52h2 |
A |
G |
7: 103,838,667 (GRCm39) |
V249A |
probably benign |
Het |
| Or8d1 |
T |
C |
9: 38,766,676 (GRCm39) |
I106T |
probably benign |
Het |
| Oxct2a |
A |
T |
4: 123,216,237 (GRCm39) |
D381E |
probably damaging |
Het |
| Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
| Pdgfc |
C |
T |
3: 81,082,268 (GRCm39) |
P154S |
probably damaging |
Het |
| Phkg1 |
T |
C |
5: 129,894,772 (GRCm39) |
T260A |
probably benign |
Het |
| Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
| Plekhj1 |
C |
T |
10: 80,632,293 (GRCm39) |
D150N |
unknown |
Het |
| Plppr1 |
T |
G |
4: 49,337,648 (GRCm39) |
N316K |
probably benign |
Het |
| Pola2 |
A |
C |
19: 6,009,074 (GRCm39) |
S95A |
possibly damaging |
Het |
| Polq |
G |
A |
16: 36,880,949 (GRCm39) |
D1038N |
probably benign |
Het |
| Prim1 |
A |
T |
10: 127,858,745 (GRCm39) |
I218L |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,377,613 (GRCm39) |
|
probably null |
Het |
| Ptgr1 |
T |
C |
4: 58,968,794 (GRCm39) |
K282E |
probably benign |
Het |
| Rbm5 |
A |
G |
9: 107,637,535 (GRCm39) |
M132T |
probably damaging |
Het |
| Scn2a |
C |
T |
2: 65,542,252 (GRCm39) |
T785M |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,023,967 (GRCm39) |
E141G |
probably damaging |
Het |
| Slc24a2 |
A |
G |
4: 86,950,523 (GRCm39) |
F425L |
probably benign |
Het |
| Smarcc2 |
A |
T |
10: 128,298,893 (GRCm39) |
H92L |
probably damaging |
Het |
| Tatdn1 |
C |
G |
15: 58,777,596 (GRCm39) |
E220Q |
probably damaging |
Het |
| Tmc7 |
C |
A |
7: 118,146,623 (GRCm39) |
Q488H |
probably benign |
Het |
| Tmc7 |
T |
G |
7: 118,146,624 (GRCm39) |
Q488P |
possibly damaging |
Het |
| Tmem45b |
C |
T |
9: 31,338,188 (GRCm39) |
D264N |
probably benign |
Het |
| Tmtc4 |
A |
C |
14: 123,210,641 (GRCm39) |
S72R |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
| Ubac1 |
A |
T |
2: 25,896,609 (GRCm39) |
M302K |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,442,597 (GRCm39) |
I30T |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,615,461 (GRCm39) |
N114S |
possibly damaging |
Het |
| Xpo5 |
T |
A |
17: 46,550,495 (GRCm39) |
D992E |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,312,437 (GRCm39) |
P86S |
probably benign |
Het |
| Zfp335 |
T |
C |
2: 164,735,636 (GRCm39) |
H1106R |
possibly damaging |
Het |
| Zfp653 |
T |
A |
9: 21,977,053 (GRCm39) |
Q166L |
probably damaging |
Het |
| Zp3r |
T |
A |
1: 130,510,609 (GRCm39) |
N436I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAATTATGCAGCCTTGAGGG -3'
(R):5'- TTCCCCTAACAAGTAGAAGGTAAG -3'
Sequencing Primer
(F):5'- GGTGCTGCTGTTCAAGTCATTCAC -3'
(R):5'- GGTGGAAGACCCCCATTAAAAATTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation