Incidental Mutation 'R1655:Nlrp4a'
| ID |
189025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4a
|
| Ensembl Gene |
ENSMUSG00000040601 |
| Gene Name |
NLR family, pyrin domain containing 4A |
| Synonyms |
E330028A19Rik, Nalp-eta, Nalp4a |
| MMRRC Submission |
039691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R1655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26435113-26476142 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26449651 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 228
(I228F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068767
AA Change: I228F
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: I228F
| 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 |
possibly damaging
Transcript: ENSMUST00000119386
AA Change: I228F
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: I228F
| 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 |
noncoding transcript
Transcript: ENSMUST00000146534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146907
AA Change: I228F
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833427G06Rik |
A |
T |
9: 51,083,621 (GRCm38) |
I136N |
probably damaging |
Het |
| 9530053A07Rik |
A |
T |
7: 28,147,110 (GRCm38) |
N1076Y |
probably damaging |
Het |
| A730061H03Rik |
A |
T |
14: 55,560,333 (GRCm38) |
|
probably benign |
Het |
| Abca1 |
C |
T |
4: 53,050,964 (GRCm38) |
A1582T |
probably benign |
Het |
| Acot8 |
A |
T |
2: 164,803,108 (GRCm38) |
S52T |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,213,397 (GRCm38) |
V124M |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,340,883 (GRCm38) |
E397K |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,642,520 (GRCm38) |
Y1180* |
probably null |
Het |
| Clptm1 |
T |
A |
7: 19,645,867 (GRCm38) |
H148L |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,437,427 (GRCm38) |
L743P |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,598,776 (GRCm38) |
M313K |
possibly damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,373,689 (GRCm38) |
I326F |
possibly damaging |
Het |
| Dennd6b |
G |
T |
15: 89,196,340 (GRCm38) |
T19K |
unknown |
Het |
| Disp1 |
A |
T |
1: 183,087,004 (GRCm38) |
I1284N |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,473,854 (GRCm38) |
Y1992H |
probably damaging |
Het |
| Dnah6 |
C |
T |
6: 73,205,732 (GRCm38) |
V205I |
possibly damaging |
Het |
| Dst |
G |
T |
1: 34,282,576 (GRCm38) |
G4391* |
probably null |
Het |
| Dytn |
A |
G |
1: 63,661,198 (GRCm38) |
S258P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,910,866 (GRCm38) |
|
probably null |
Het |
| Ermn |
C |
T |
2: 58,052,584 (GRCm38) |
V45I |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,957,318 (GRCm38) |
V2189A |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,571,851 (GRCm38) |
I934T |
probably damaging |
Het |
| Gbp9 |
T |
A |
5: 105,081,692 (GRCm38) |
Q472L |
possibly damaging |
Het |
| Gimap5 |
G |
T |
6: 48,753,176 (GRCm38) |
E227* |
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,780,043 (GRCm38) |
V240M |
probably benign |
Het |
| H2-Q4 |
G |
T |
17: 35,382,905 (GRCm38) |
V248F |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 181,234,147 (GRCm38) |
E1518G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,630,333 (GRCm38) |
V3814A |
probably benign |
Het |
| Ifna7 |
A |
G |
4: 88,816,660 (GRCm38) |
T145A |
probably benign |
Het |
| Itgam |
T |
A |
7: 128,115,163 (GRCm38) |
M947K |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,376,148 (GRCm38) |
N608H |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,220,211 (GRCm38) |
N242I |
probably damaging |
Het |
| Lonrf2 |
A |
T |
1: 38,811,824 (GRCm38) |
L219Q |
probably damaging |
Het |
| Ly6c2 |
T |
C |
15: 75,108,563 (GRCm38) |
I126V |
probably benign |
Het |
| Mr1 |
G |
A |
1: 155,132,455 (GRCm38) |
T258M |
probably benign |
Het |
| Mrps35 |
T |
G |
6: 147,060,228 (GRCm38) |
D200E |
possibly damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,632,872 (GRCm38) |
S1506A |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,698,245 (GRCm38) |
|
probably null |
Het |
| Olfr1047 |
A |
G |
2: 86,228,080 (GRCm38) |
V297A |
possibly damaging |
Het |
| Olfr1339 |
A |
G |
4: 118,734,999 (GRCm38) |
S157G |
probably benign |
Het |
| Olfr368 |
A |
G |
2: 37,331,939 (GRCm38) |
Y64C |
probably damaging |
Het |
| Olfr483 |
A |
T |
7: 108,103,464 (GRCm38) |
I52F |
probably damaging |
Het |
| Paxx |
T |
C |
2: 25,460,316 (GRCm38) |
E93G |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,448,768 (GRCm38) |
G128W |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 122,496,822 (GRCm38) |
I796T |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,584,129 (GRCm38) |
S235P |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,335,922 (GRCm38) |
F259Y |
probably damaging |
Het |
| Pus7 |
T |
A |
5: 23,747,800 (GRCm38) |
K512* |
probably null |
Het |
| Ralyl |
A |
T |
3: 14,107,236 (GRCm38) |
Y55F |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,383,534 (GRCm38) |
M451K |
probably benign |
Het |
| Rhag |
T |
C |
17: 40,831,596 (GRCm38) |
F231L |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,860,895 (GRCm38) |
C94R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,772,212 (GRCm38) |
D460E |
probably benign |
Het |
| Rpn1 |
T |
C |
6: 88,100,944 (GRCm38) |
V454A |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,191,782 (GRCm38) |
D427G |
probably benign |
Het |
| Scai |
A |
T |
2: 39,080,117 (GRCm38) |
V545D |
possibly damaging |
Het |
| Serpinb3a |
A |
G |
1: 107,046,212 (GRCm38) |
V323A |
probably damaging |
Het |
| Slc13a5 |
C |
A |
11: 72,257,378 (GRCm38) |
C277F |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,465,899 (GRCm38) |
Y557N |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,069,419 (GRCm38) |
V628A |
probably benign |
Het |
| Slc8a2 |
G |
T |
7: 16,141,135 (GRCm38) |
G436V |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,277,515 (GRCm38) |
R838* |
probably null |
Het |
| Supt5 |
T |
C |
7: 28,330,024 (GRCm38) |
I103V |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,843,216 (GRCm38) |
Y346* |
probably null |
Het |
| Tg |
T |
G |
15: 66,828,568 (GRCm38) |
|
probably null |
Het |
| Top1 |
T |
A |
2: 160,703,696 (GRCm38) |
|
probably null |
Het |
| Trmt12 |
T |
C |
15: 58,873,227 (GRCm38) |
L158P |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,651,695 (GRCm38) |
N226S |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,672,756 (GRCm38) |
V2746F |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,375,051 (GRCm38) |
V999E |
probably benign |
Het |
| Virma |
T |
C |
4: 11,494,786 (GRCm38) |
V29A |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,177,266 (GRCm38) |
Y48N |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,703,554 (GRCm38) |
V709A |
possibly damaging |
Het |
|
| Other mutations in Nlrp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Nlrp4a
|
APN |
7 |
26,449,985 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL00972:Nlrp4a
|
APN |
7 |
26,457,048 (GRCm38) |
missense |
probably benign |
|
|
IGL01081:Nlrp4a
|
APN |
7 |
26,449,829 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01788:Nlrp4a
|
APN |
7 |
26,454,067 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02001:Nlrp4a
|
APN |
7 |
26,449,969 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02070:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02175:Nlrp4a
|
APN |
7 |
26,475,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,459,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02197:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02200:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02202:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02207:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02237:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02240:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02658:Nlrp4a
|
APN |
7 |
26,449,713 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02743:Nlrp4a
|
APN |
7 |
26,459,815 (GRCm38) |
splice site |
probably benign |
|
|
IGL02960:Nlrp4a
|
APN |
7 |
26,449,730 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL03064:Nlrp4a
|
APN |
7 |
26,449,509 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL03276:Nlrp4a
|
APN |
7 |
26,464,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB002:Nlrp4a
|
UTSW |
7 |
26,450,586 (GRCm38) |
missense |
probably benign |
0.10 |
|
BB012:Nlrp4a
|
UTSW |
7 |
26,450,586 (GRCm38) |
missense |
probably benign |
0.10 |
|
D3080:Nlrp4a
|
UTSW |
7 |
26,444,341 (GRCm38) |
missense |
probably benign |
0.22 |
|
P0019:Nlrp4a
|
UTSW |
7 |
26,449,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0020:Nlrp4a
|
UTSW |
7 |
26,450,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,462,516 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,462,516 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0372:Nlrp4a
|
UTSW |
7 |
26,449,232 (GRCm38) |
splice site |
probably benign |
|
|
R0466:Nlrp4a
|
UTSW |
7 |
26,462,620 (GRCm38) |
splice site |
probably benign |
|
|
R0544:Nlrp4a
|
UTSW |
7 |
26,457,130 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1006:Nlrp4a
|
UTSW |
7 |
26,453,467 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1072:Nlrp4a
|
UTSW |
7 |
26,444,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1432:Nlrp4a
|
UTSW |
7 |
26,464,197 (GRCm38) |
frame shift |
probably null |
|
|
R1696:Nlrp4a
|
UTSW |
7 |
26,450,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2041:Nlrp4a
|
UTSW |
7 |
26,450,186 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2091:Nlrp4a
|
UTSW |
7 |
26,450,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2163:Nlrp4a
|
UTSW |
7 |
26,453,397 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2174:Nlrp4a
|
UTSW |
7 |
26,449,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2319:Nlrp4a
|
UTSW |
7 |
26,449,894 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2358:Nlrp4a
|
UTSW |
7 |
26,464,198 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2680:Nlrp4a
|
UTSW |
7 |
26,449,230 (GRCm38) |
splice site |
probably null |
|
|
R3812:Nlrp4a
|
UTSW |
7 |
26,449,693 (GRCm38) |
missense |
probably benign |
|
|
R4114:Nlrp4a
|
UTSW |
7 |
26,449,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Nlrp4a
|
UTSW |
7 |
26,449,518 (GRCm38) |
nonsense |
probably null |
|
|
R4676:Nlrp4a
|
UTSW |
7 |
26,450,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4708:Nlrp4a
|
UTSW |
7 |
26,464,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4728:Nlrp4a
|
UTSW |
7 |
26,475,090 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4815:Nlrp4a
|
UTSW |
7 |
26,450,808 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4831:Nlrp4a
|
UTSW |
7 |
26,450,419 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5007:Nlrp4a
|
UTSW |
7 |
26,462,480 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5253:Nlrp4a
|
UTSW |
7 |
26,450,492 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5262:Nlrp4a
|
UTSW |
7 |
26,459,811 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5441:Nlrp4a
|
UTSW |
7 |
26,454,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5639:Nlrp4a
|
UTSW |
7 |
26,457,030 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5641:Nlrp4a
|
UTSW |
7 |
26,450,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5771:Nlrp4a
|
UTSW |
7 |
26,453,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6312:Nlrp4a
|
UTSW |
7 |
26,449,396 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7131:Nlrp4a
|
UTSW |
7 |
26,449,833 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7149:Nlrp4a
|
UTSW |
7 |
26,450,438 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7348:Nlrp4a
|
UTSW |
7 |
26,444,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7384:Nlrp4a
|
UTSW |
7 |
26,449,538 (GRCm38) |
missense |
not run |
|
|
R7548:Nlrp4a
|
UTSW |
7 |
26,450,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7566:Nlrp4a
|
UTSW |
7 |
26,449,245 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7646:Nlrp4a
|
UTSW |
7 |
26,449,562 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7692:Nlrp4a
|
UTSW |
7 |
26,449,265 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7902:Nlrp4a
|
UTSW |
7 |
26,450,057 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7925:Nlrp4a
|
UTSW |
7 |
26,450,586 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7937:Nlrp4a
|
UTSW |
7 |
26,464,146 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7992:Nlrp4a
|
UTSW |
7 |
26,450,645 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8205:Nlrp4a
|
UTSW |
7 |
26,450,794 (GRCm38) |
missense |
probably benign |
|
|
R8477:Nlrp4a
|
UTSW |
7 |
26,459,794 (GRCm38) |
missense |
probably benign |
|
|
R8704:Nlrp4a
|
UTSW |
7 |
26,457,138 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8791:Nlrp4a
|
UTSW |
7 |
26,444,136 (GRCm38) |
splice site |
probably benign |
|
|
R9220:Nlrp4a
|
UTSW |
7 |
26,450,098 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9332:Nlrp4a
|
UTSW |
7 |
26,459,652 (GRCm38) |
missense |
probably damaging |
0.99 |
|
T0975:Nlrp4a
|
UTSW |
7 |
26,449,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Nlrp4a
|
UTSW |
7 |
26,444,342 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1088:Nlrp4a
|
UTSW |
7 |
26,454,163 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATAGAAAGCCCAGTGTTTCTGC -3'
(R):5'- GGGACCTGACATACAGTGAACAGC -3'
Sequencing Primer
(F):5'- CCCAGTGTTTCTGCACAAATTC -3'
(R):5'- ACTGAAGGCTTCATGGGC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation