Incidental Mutation 'R7646:Nlrp4a'
| ID |
590533 |
| 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 |
045724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7646 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 26148987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 198
(A198G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068767
AA Change: A198G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: A198G
| 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 damaging
Transcript: ENSMUST00000119386
AA Change: A198G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: A198G
| 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 damaging
Transcript: ENSMUST00000146907
AA Change: A198G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,113,937 (GRCm39) |
H936R |
probably benign |
Het |
| Afg3l1 |
C |
A |
8: 124,219,766 (GRCm39) |
D431E |
possibly damaging |
Het |
| Agrn |
T |
C |
4: 156,279,811 (GRCm39) |
N120S |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,059,189 (GRCm39) |
D2557G |
probably damaging |
Het |
| Atl2 |
A |
G |
17: 80,162,036 (GRCm39) |
Y359H |
probably damaging |
Het |
| Banp |
T |
C |
8: 122,750,775 (GRCm39) |
S489P |
possibly damaging |
Het |
| Cage1 |
A |
G |
13: 38,206,823 (GRCm39) |
C341R |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,140,931 (GRCm39) |
N3139S |
possibly damaging |
Het |
| Chd2 |
G |
T |
7: 73,085,521 (GRCm39) |
S1704R |
possibly damaging |
Het |
| Col4a2 |
T |
A |
8: 11,495,086 (GRCm39) |
F1515I |
probably benign |
Het |
| Crocc |
T |
A |
4: 140,748,966 (GRCm39) |
Q1613L |
probably null |
Het |
| Cttnbp2 |
A |
T |
6: 18,375,939 (GRCm39) |
S1533R |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,636,976 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,868,651 (GRCm39) |
D362N |
probably benign |
Het |
| Elf5 |
G |
T |
2: 103,269,588 (GRCm39) |
K56N |
probably benign |
Het |
| Emsy |
G |
A |
7: 98,268,560 (GRCm39) |
P508S |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,067,704 (GRCm39) |
H1055R |
probably benign |
Het |
| Fh1 |
C |
T |
1: 175,442,479 (GRCm39) |
V124I |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,272,111 (GRCm39) |
D1610E |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,155,257 (GRCm39) |
K415E |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,836,361 (GRCm39) |
D496G |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,784,361 (GRCm39) |
I1342V |
probably benign |
Het |
| Hoxa7 |
A |
G |
6: 52,192,699 (GRCm39) |
*230Q |
probably null |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Ildr1 |
T |
A |
16: 36,542,281 (GRCm39) |
M271K |
possibly damaging |
Het |
| Klk1b22 |
T |
G |
7: 43,765,542 (GRCm39) |
|
probably null |
Het |
| Lig3 |
T |
A |
11: 82,674,304 (GRCm39) |
N43K |
probably benign |
Het |
| Mcmdc2 |
A |
G |
1: 9,982,360 (GRCm39) |
T83A |
possibly damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,298,498 (GRCm39) |
S2179T |
possibly damaging |
Het |
| Mrpl38 |
G |
A |
11: 116,023,593 (GRCm39) |
S282L |
probably damaging |
Het |
| Ndst2 |
A |
G |
14: 20,774,527 (GRCm39) |
|
probably null |
Het |
| Nup98 |
A |
C |
7: 101,803,242 (GRCm39) |
S653A |
probably benign |
Het |
| Or12e8 |
A |
G |
2: 87,188,102 (GRCm39) |
I105V |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,864 (GRCm39) |
F13L |
probably damaging |
Het |
| Or14j10 |
G |
T |
17: 37,935,295 (GRCm39) |
T77K |
probably damaging |
Het |
| Or51ai2 |
G |
A |
7: 103,587,504 (GRCm39) |
A306T |
probably damaging |
Het |
| Or8k37 |
C |
A |
2: 86,469,513 (GRCm39) |
D180Y |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,570,909 (GRCm39) |
D98V |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,221 (GRCm39) |
D1000E |
probably benign |
Het |
| Polr3h |
A |
G |
15: 81,801,571 (GRCm39) |
Y131H |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,516,780 (GRCm39) |
I346V |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,301,436 (GRCm39) |
K332M |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,118,102 (GRCm39) |
M404V |
possibly damaging |
Het |
| Septin8 |
T |
A |
11: 53,428,744 (GRCm39) |
|
probably null |
Het |
| Sesn3 |
A |
G |
9: 14,219,911 (GRCm39) |
D100G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,067,561 (GRCm39) |
I2388V |
possibly damaging |
Het |
| Skint5 |
T |
A |
4: 113,620,739 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
C |
T |
17: 57,366,759 (GRCm39) |
|
probably benign |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 74,154,344 (GRCm39) |
A76V |
probably damaging |
Het |
| Stradb |
A |
T |
1: 59,033,567 (GRCm39) |
D410V |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,122,949 (GRCm39) |
D329G |
probably damaging |
Het |
| Syt4 |
A |
C |
18: 31,574,658 (GRCm39) |
S320A |
possibly damaging |
Het |
| Tnfsf4 |
A |
G |
1: 161,244,733 (GRCm39) |
T141A |
possibly damaging |
Het |
| Trim34b |
G |
A |
7: 103,984,559 (GRCm39) |
A279T |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,845,325 (GRCm39) |
D1675V |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,169 (GRCm39) |
M832K |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,079,104 (GRCm39) |
V246A |
probably benign |
Het |
| Xkr6 |
G |
T |
14: 63,844,423 (GRCm39) |
D149Y |
probably damaging |
Het |
| Zfp108 |
A |
G |
7: 23,960,840 (GRCm39) |
Y477C |
probably damaging |
Het |
| Zfp37 |
T |
G |
4: 62,109,532 (GRCm39) |
I552L |
probably damaging |
Het |
| Zfp426 |
A |
T |
9: 20,381,320 (GRCm39) |
S556T |
probably damaging |
Het |
| Zfp954 |
G |
A |
7: 7,118,720 (GRCm39) |
L275F |
possibly damaging |
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 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- TTCCAATCAAAGGGCACTGAATC -3'
(R):5'- ATTCAGGGAGCATCTTCCTCC -3'
Sequencing Primer
(F):5'- GCACTGAATCAAAGCCACAGGTG -3'
(R):5'- AGCAGTACATTCACTGGCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation