Incidental Mutation 'R0240:Nlrp4a'
ID |
65847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp4a
|
Ensembl Gene |
ENSMUSG00000040601 |
Gene Name |
NLR family, pyrin domain containing 4A |
Synonyms |
Nalp-eta, E330028A19Rik, Nalp4a |
MMRRC Submission |
038478-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R0240 (G1)
|
Quality Score |
195 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26161941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 863
(V863A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146044
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
AlphaFold |
Q8BU40 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068767
AA Change: V863A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000066841 Gene: ENSMUSG00000040601 AA Change: V863A
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
89 |
6.48e-34 |
SMART |
Pfam:NACHT
|
148 |
317 |
4.9e-37 |
PFAM |
Blast:LRR
|
634 |
661 |
4e-6 |
BLAST |
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
LRR
|
689 |
716 |
5.96e0 |
SMART |
LRR
|
718 |
745 |
1.99e1 |
SMART |
LRR
|
746 |
772 |
1.02e0 |
SMART |
LRR
|
774 |
801 |
4.66e1 |
SMART |
LRR
|
802 |
829 |
1.18e-2 |
SMART |
LRR
|
831 |
858 |
2.2e-2 |
SMART |
LRR
|
859 |
886 |
5.59e-4 |
SMART |
LRR
|
888 |
915 |
9.41e0 |
SMART |
LRR
|
916 |
943 |
8.94e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119386
AA Change: V863A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112441 Gene: ENSMUSG00000040601 AA Change: V863A
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
89 |
6.48e-34 |
SMART |
Pfam:NACHT
|
148 |
317 |
1.3e-37 |
PFAM |
Blast:LRR
|
634 |
661 |
4e-6 |
BLAST |
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
LRR
|
689 |
716 |
5.96e0 |
SMART |
LRR
|
718 |
745 |
1.99e1 |
SMART |
LRR
|
746 |
772 |
1.02e0 |
SMART |
LRR
|
774 |
801 |
4.66e1 |
SMART |
LRR
|
802 |
829 |
1.18e-2 |
SMART |
LRR
|
831 |
858 |
2.2e-2 |
SMART |
LRR
|
859 |
886 |
5.59e-4 |
SMART |
LRR
|
888 |
915 |
9.41e0 |
SMART |
LRR
|
916 |
943 |
8.94e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146907
AA Change: V863A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.3%
- 10x: 91.2%
- 20x: 69.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
T |
C |
8: 123,506,920 (GRCm39) |
L71P |
probably damaging |
Het |
Adamts2 |
A |
T |
11: 50,666,201 (GRCm39) |
D399V |
probably damaging |
Het |
Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
Ankrd27 |
T |
A |
7: 35,318,864 (GRCm39) |
L585Q |
probably damaging |
Het |
Atp7a |
T |
A |
X: 105,153,447 (GRCm39) |
N1117K |
probably damaging |
Het |
Cacna1d |
T |
A |
14: 29,818,926 (GRCm39) |
M1210L |
probably benign |
Het |
Cotl1 |
C |
T |
8: 120,567,063 (GRCm39) |
W26* |
probably null |
Het |
Csmd3 |
T |
C |
15: 47,492,635 (GRCm39) |
T3000A |
probably benign |
Het |
Ddhd2 |
A |
T |
8: 26,229,617 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
Dnm3 |
G |
T |
1: 162,181,194 (GRCm39) |
Q162K |
probably benign |
Het |
Dpy19l2 |
G |
T |
9: 24,569,876 (GRCm39) |
A359D |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,897,873 (GRCm39) |
K1025R |
probably damaging |
Het |
Eml2 |
C |
A |
7: 18,918,797 (GRCm39) |
Y82* |
probably null |
Het |
Eml6 |
A |
G |
11: 29,742,367 (GRCm39) |
V1057A |
possibly damaging |
Het |
Espl1 |
T |
C |
15: 102,220,976 (GRCm39) |
S911P |
probably benign |
Het |
Flrt1 |
A |
T |
19: 7,074,475 (GRCm39) |
|
probably benign |
Het |
G3bp1 |
G |
A |
11: 55,382,854 (GRCm39) |
G139D |
probably damaging |
Het |
Galc |
A |
T |
12: 98,218,293 (GRCm39) |
H186Q |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,890,177 (GRCm39) |
D702G |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,010,085 (GRCm39) |
E291G |
possibly damaging |
Het |
Hectd3 |
T |
G |
4: 116,859,810 (GRCm39) |
V749G |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 192,187,648 (GRCm39) |
I703N |
probably benign |
Het |
Kcnma1 |
G |
A |
14: 23,544,647 (GRCm39) |
T505I |
probably damaging |
Het |
Kctd11 |
A |
G |
11: 69,770,640 (GRCm39) |
C133R |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,672,880 (GRCm39) |
|
probably null |
Het |
Lamb3 |
T |
C |
1: 193,017,335 (GRCm39) |
L842P |
probably damaging |
Het |
Lipk |
G |
A |
19: 34,024,210 (GRCm39) |
R336H |
probably benign |
Het |
Lrrc24 |
T |
A |
15: 76,607,409 (GRCm39) |
D58V |
probably damaging |
Het |
Milr1 |
G |
A |
11: 106,645,722 (GRCm39) |
W88* |
probably null |
Het |
Mmp10 |
A |
G |
9: 7,506,544 (GRCm39) |
D340G |
probably damaging |
Het |
Mybpc1 |
T |
A |
10: 88,391,600 (GRCm39) |
Y285F |
possibly damaging |
Het |
Ncoa3 |
A |
G |
2: 165,896,320 (GRCm39) |
T408A |
probably benign |
Het |
Nefm |
T |
A |
14: 68,358,583 (GRCm39) |
K484* |
probably null |
Het |
Nfasc |
A |
G |
1: 132,529,721 (GRCm39) |
S814P |
probably damaging |
Het |
Nos1 |
C |
T |
5: 118,005,948 (GRCm39) |
P223S |
probably benign |
Het |
Or13c7 |
T |
A |
4: 43,854,512 (GRCm39) |
S68T |
probably damaging |
Het |
Or4c108 |
A |
T |
2: 88,803,740 (GRCm39) |
L165Q |
probably damaging |
Het |
Or5an6 |
A |
T |
19: 12,372,327 (GRCm39) |
E233D |
probably benign |
Het |
Or8k41 |
A |
G |
2: 86,313,730 (GRCm39) |
S119P |
possibly damaging |
Het |
Otog |
C |
A |
7: 45,913,456 (GRCm39) |
|
probably null |
Het |
Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
Pbx1 |
G |
A |
1: 168,031,051 (GRCm39) |
T189I |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 81,993,792 (GRCm39) |
I908T |
possibly damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,697,309 (GRCm39) |
W124R |
probably damaging |
Het |
Phex |
C |
A |
X: 155,969,214 (GRCm39) |
D587Y |
probably damaging |
Het |
Plcb3 |
A |
T |
19: 6,940,363 (GRCm39) |
D435E |
probably benign |
Het |
Plce1 |
A |
C |
19: 38,717,330 (GRCm39) |
K1373T |
probably damaging |
Het |
Prkcd |
G |
A |
14: 30,324,045 (GRCm39) |
A311V |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,232,374 (GRCm39) |
S421T |
probably benign |
Het |
Ptprs |
T |
C |
17: 56,743,087 (GRCm39) |
|
probably null |
Het |
Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
Rcc1 |
C |
A |
4: 132,060,226 (GRCm39) |
G393V |
probably damaging |
Het |
Reln |
T |
C |
5: 22,311,043 (GRCm39) |
N290S |
probably benign |
Het |
Rhpn1 |
C |
T |
15: 75,585,971 (GRCm39) |
T628I |
probably benign |
Het |
Rnf224 |
T |
C |
2: 25,126,219 (GRCm39) |
T45A |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,219,513 (GRCm39) |
V137A |
probably benign |
Het |
Rps6ka1 |
C |
A |
4: 133,575,842 (GRCm39) |
Q693H |
probably benign |
Het |
Scn2a |
G |
T |
2: 65,566,118 (GRCm39) |
V1381F |
probably benign |
Het |
Scp2 |
T |
A |
4: 107,955,275 (GRCm39) |
H112L |
probably benign |
Het |
Sdk1 |
T |
C |
5: 141,984,502 (GRCm39) |
W696R |
probably damaging |
Het |
Slc26a7 |
C |
A |
4: 14,532,651 (GRCm39) |
V408F |
probably damaging |
Het |
Slc28a2 |
T |
A |
2: 122,285,008 (GRCm39) |
I332N |
probably benign |
Het |
Slc45a4 |
T |
A |
15: 73,453,755 (GRCm39) |
E674D |
probably benign |
Het |
Smpd3 |
T |
C |
8: 106,991,788 (GRCm39) |
E255G |
probably damaging |
Het |
Snx29 |
C |
T |
16: 11,478,417 (GRCm39) |
R658W |
probably damaging |
Het |
Sppl2a |
A |
T |
2: 126,762,256 (GRCm39) |
M275K |
probably benign |
Het |
Stac |
T |
C |
9: 111,464,089 (GRCm39) |
N59S |
probably damaging |
Het |
Stk25 |
A |
T |
1: 93,554,782 (GRCm39) |
L131Q |
probably damaging |
Het |
Thbs1 |
C |
A |
2: 117,944,874 (GRCm39) |
N229K |
probably damaging |
Het |
Tmx2 |
A |
T |
2: 84,506,186 (GRCm39) |
H89Q |
probably damaging |
Het |
Trappc3l |
A |
T |
10: 33,974,928 (GRCm39) |
R119* |
probably null |
Het |
Ublcp1 |
G |
T |
11: 44,349,104 (GRCm39) |
Y243* |
probably null |
Het |
Usp24 |
C |
A |
4: 106,271,601 (GRCm39) |
C2158* |
probably null |
Het |
Usp34 |
A |
T |
11: 23,383,206 (GRCm39) |
K2088N |
probably damaging |
Het |
Vmn1r53 |
G |
C |
6: 90,200,925 (GRCm39) |
S133C |
probably damaging |
Het |
Vmn2r52 |
A |
G |
7: 9,893,327 (GRCm39) |
V604A |
probably damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,525,061 (GRCm39) |
K240E |
probably benign |
Het |
Wdr13 |
T |
G |
X: 7,994,284 (GRCm39) |
D242A |
probably damaging |
Het |
Wwp1 |
C |
T |
4: 19,641,734 (GRCm39) |
|
probably null |
Het |
Zan |
G |
A |
5: 137,396,624 (GRCm39) |
H4311Y |
unknown |
Het |
Zc3h12c |
C |
A |
9: 52,055,383 (GRCm39) |
R123L |
possibly damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,739 (GRCm39) |
P266S |
probably benign |
Het |
|
Other mutations in Nlrp4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00487:Nlrp4a
|
APN |
7 |
26,149,410 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL00972:Nlrp4a
|
APN |
7 |
26,156,473 (GRCm39) |
missense |
probably benign |
|
IGL01081:Nlrp4a
|
APN |
7 |
26,149,254 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01788:Nlrp4a
|
APN |
7 |
26,153,492 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02001:Nlrp4a
|
APN |
7 |
26,149,394 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02070:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02175:Nlrp4a
|
APN |
7 |
26,174,522 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02193:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02193:Nlrp4a
|
APN |
7 |
26,159,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02197:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02200:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02202:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02207:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02237:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02240:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02658:Nlrp4a
|
APN |
7 |
26,149,138 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02743:Nlrp4a
|
APN |
7 |
26,159,240 (GRCm39) |
splice site |
probably benign |
|
IGL02960:Nlrp4a
|
APN |
7 |
26,149,155 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03064:Nlrp4a
|
APN |
7 |
26,148,934 (GRCm39) |
missense |
probably benign |
0.23 |
IGL03276:Nlrp4a
|
APN |
7 |
26,163,615 (GRCm39) |
missense |
probably damaging |
1.00 |
BB002:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
BB012:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
D3080:Nlrp4a
|
UTSW |
7 |
26,143,766 (GRCm39) |
missense |
probably benign |
0.22 |
P0019:Nlrp4a
|
UTSW |
7 |
26,149,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R0020:Nlrp4a
|
UTSW |
7 |
26,149,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Nlrp4a
|
UTSW |
7 |
26,161,941 (GRCm39) |
missense |
probably benign |
0.00 |
R0372:Nlrp4a
|
UTSW |
7 |
26,148,657 (GRCm39) |
splice site |
probably benign |
|
R0466:Nlrp4a
|
UTSW |
7 |
26,162,045 (GRCm39) |
splice site |
probably benign |
|
R0544:Nlrp4a
|
UTSW |
7 |
26,156,555 (GRCm39) |
missense |
probably benign |
0.00 |
R1006:Nlrp4a
|
UTSW |
7 |
26,152,892 (GRCm39) |
missense |
probably benign |
0.30 |
R1072:Nlrp4a
|
UTSW |
7 |
26,143,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Nlrp4a
|
UTSW |
7 |
26,163,622 (GRCm39) |
frame shift |
probably null |
|
R1655:Nlrp4a
|
UTSW |
7 |
26,149,076 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1696:Nlrp4a
|
UTSW |
7 |
26,149,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R2041:Nlrp4a
|
UTSW |
7 |
26,149,611 (GRCm39) |
missense |
probably damaging |
0.97 |
R2091:Nlrp4a
|
UTSW |
7 |
26,149,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R2163:Nlrp4a
|
UTSW |
7 |
26,152,822 (GRCm39) |
missense |
probably benign |
0.00 |
R2174:Nlrp4a
|
UTSW |
7 |
26,148,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R2319:Nlrp4a
|
UTSW |
7 |
26,149,319 (GRCm39) |
missense |
probably benign |
0.10 |
R2358:Nlrp4a
|
UTSW |
7 |
26,163,623 (GRCm39) |
missense |
probably benign |
0.03 |
R2680:Nlrp4a
|
UTSW |
7 |
26,148,655 (GRCm39) |
splice site |
probably null |
|
R3812:Nlrp4a
|
UTSW |
7 |
26,149,118 (GRCm39) |
missense |
probably benign |
|
R4114:Nlrp4a
|
UTSW |
7 |
26,149,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Nlrp4a
|
UTSW |
7 |
26,148,943 (GRCm39) |
nonsense |
probably null |
|
R4676:Nlrp4a
|
UTSW |
7 |
26,149,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R4708:Nlrp4a
|
UTSW |
7 |
26,163,533 (GRCm39) |
missense |
probably benign |
0.00 |
R4728:Nlrp4a
|
UTSW |
7 |
26,174,515 (GRCm39) |
missense |
probably benign |
0.24 |
R4815:Nlrp4a
|
UTSW |
7 |
26,150,233 (GRCm39) |
missense |
probably benign |
0.00 |
R4831:Nlrp4a
|
UTSW |
7 |
26,149,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5007:Nlrp4a
|
UTSW |
7 |
26,161,905 (GRCm39) |
missense |
probably damaging |
0.99 |
R5253:Nlrp4a
|
UTSW |
7 |
26,149,917 (GRCm39) |
missense |
probably benign |
0.00 |
R5262:Nlrp4a
|
UTSW |
7 |
26,159,236 (GRCm39) |
critical splice donor site |
probably null |
|
R5441:Nlrp4a
|
UTSW |
7 |
26,153,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R5639:Nlrp4a
|
UTSW |
7 |
26,156,455 (GRCm39) |
missense |
probably benign |
0.02 |
R5641:Nlrp4a
|
UTSW |
7 |
26,149,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R5771:Nlrp4a
|
UTSW |
7 |
26,152,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R6312:Nlrp4a
|
UTSW |
7 |
26,148,821 (GRCm39) |
missense |
probably benign |
0.11 |
R7131:Nlrp4a
|
UTSW |
7 |
26,149,258 (GRCm39) |
missense |
probably benign |
0.21 |
R7149:Nlrp4a
|
UTSW |
7 |
26,149,863 (GRCm39) |
missense |
probably benign |
0.00 |
R7348:Nlrp4a
|
UTSW |
7 |
26,143,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7384:Nlrp4a
|
UTSW |
7 |
26,148,963 (GRCm39) |
missense |
not run |
|
R7548:Nlrp4a
|
UTSW |
7 |
26,149,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R7566:Nlrp4a
|
UTSW |
7 |
26,148,670 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7646:Nlrp4a
|
UTSW |
7 |
26,148,987 (GRCm39) |
missense |
probably damaging |
0.96 |
R7692:Nlrp4a
|
UTSW |
7 |
26,148,690 (GRCm39) |
missense |
probably benign |
0.01 |
R7902:Nlrp4a
|
UTSW |
7 |
26,149,482 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7925:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
R7937:Nlrp4a
|
UTSW |
7 |
26,163,571 (GRCm39) |
missense |
probably benign |
0.00 |
R7992:Nlrp4a
|
UTSW |
7 |
26,150,070 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8205:Nlrp4a
|
UTSW |
7 |
26,150,219 (GRCm39) |
missense |
probably benign |
|
R8477:Nlrp4a
|
UTSW |
7 |
26,159,219 (GRCm39) |
missense |
probably benign |
|
R8704:Nlrp4a
|
UTSW |
7 |
26,156,563 (GRCm39) |
missense |
probably benign |
0.02 |
R8791:Nlrp4a
|
UTSW |
7 |
26,143,561 (GRCm39) |
splice site |
probably benign |
|
R9220:Nlrp4a
|
UTSW |
7 |
26,149,523 (GRCm39) |
missense |
probably damaging |
0.97 |
R9332:Nlrp4a
|
UTSW |
7 |
26,159,077 (GRCm39) |
missense |
probably damaging |
0.99 |
T0975:Nlrp4a
|
UTSW |
7 |
26,149,062 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Nlrp4a
|
UTSW |
7 |
26,143,767 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Nlrp4a
|
UTSW |
7 |
26,153,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
|
Posted On |
2013-08-19 |