Incidental Mutation 'R0707:Nlrp4f'
| ID |
63191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4f
|
| Ensembl Gene |
ENSMUSG00000032999 |
| Gene Name |
NLR family, pyrin domain containing 4F |
| Synonyms |
Nalp4f, C330026N02Rik, Nalp-kappa |
| MMRRC Submission |
038890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0707 (G1)
|
| Quality Score |
139 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65342317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 443
(E443K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037372]
[ENSMUST00000220448]
[ENSMUST00000221659]
[ENSMUST00000222273]
[ENSMUST00000222514]
[ENSMUST00000222559]
[ENSMUST00000223418]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037372
AA Change: E443K
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: E443K
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
88 |
1.44e-26 |
SMART |
|
Pfam:NACHT
|
147 |
316 |
3.4e-39 |
PFAM |
|
LRR
|
632 |
659 |
1.18e1 |
SMART |
|
LRR
|
686 |
713 |
4.22e1 |
SMART |
|
LRR
|
715 |
742 |
5.66e1 |
SMART |
|
LRR
|
743 |
769 |
4.03e0 |
SMART |
|
LRR
|
771 |
798 |
1.17e0 |
SMART |
|
LRR
|
799 |
826 |
1.43e-1 |
SMART |
|
LRR
|
828 |
855 |
1.03e-2 |
SMART |
|
LRR
|
856 |
883 |
5.59e-4 |
SMART |
|
LRR
|
885 |
912 |
2.91e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220448
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221659
AA Change: E443K
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222273
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222514
AA Change: E443K
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223418
|
| Meta Mutation Damage Score |
0.2083 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,617,329 (GRCm39) |
F259S |
probably damaging |
Het |
| Aldh16a1 |
T |
A |
7: 44,793,931 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
A |
T |
10: 81,478,547 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,564,951 (GRCm39) |
S641P |
probably damaging |
Het |
| Arpp21 |
A |
C |
9: 111,986,824 (GRCm39) |
S242R |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Bud31 |
A |
G |
5: 145,083,265 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ccdc65 |
G |
A |
15: 98,607,095 (GRCm39) |
V101I |
possibly damaging |
Het |
| Ccr7 |
T |
A |
11: 99,036,809 (GRCm39) |
T38S |
probably damaging |
Het |
| Cdc14a |
T |
C |
3: 116,087,362 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
C |
T |
8: 105,677,618 (GRCm39) |
H208Y |
possibly damaging |
Het |
| Chst1 |
C |
A |
2: 92,443,964 (GRCm39) |
N145K |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cog6 |
C |
T |
3: 52,921,283 (GRCm39) |
V108I |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,287,805 (GRCm39) |
N2881K |
unknown |
Het |
| Crtc2 |
T |
A |
3: 90,170,804 (GRCm39) |
F626I |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,673,144 (GRCm39) |
F792I |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,049,781 (GRCm39) |
K1780R |
probably benign |
Het |
| Dph5 |
A |
C |
3: 115,708,782 (GRCm39) |
N155H |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,626,982 (GRCm39) |
|
probably null |
Het |
| Etl4 |
C |
A |
2: 20,810,382 (GRCm39) |
|
probably benign |
Het |
| Flt3l |
T |
C |
7: 44,785,450 (GRCm39) |
S9G |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,944,498 (GRCm39) |
E159G |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gatad2b |
T |
A |
3: 90,263,489 (GRCm39) |
S529T |
probably benign |
Het |
| Herc6 |
G |
A |
6: 57,639,347 (GRCm39) |
G905E |
possibly damaging |
Het |
| Hhip |
T |
A |
8: 80,724,884 (GRCm39) |
N296I |
probably damaging |
Het |
| Hmgcr |
A |
T |
13: 96,787,151 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,830,951 (GRCm39) |
N723H |
possibly damaging |
Het |
| Mroh5 |
T |
A |
15: 73,662,588 (GRCm39) |
Y242F |
possibly damaging |
Het |
| Msh3 |
T |
A |
13: 92,483,848 (GRCm39) |
K258* |
probably null |
Het |
| Myo1a |
T |
C |
10: 127,555,732 (GRCm39) |
|
probably benign |
Het |
| Nupr2 |
A |
G |
5: 129,937,533 (GRCm39) |
Y34C |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,452,255 (GRCm39) |
|
probably benign |
Het |
| Or1af1 |
A |
T |
2: 37,110,208 (GRCm39) |
K236* |
probably null |
Het |
| Or5af2 |
T |
A |
11: 58,708,577 (GRCm39) |
L248M |
probably damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,784 (GRCm39) |
M284L |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,414,331 (GRCm39) |
D182G |
probably damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,742,002 (GRCm39) |
N287S |
probably damaging |
Het |
| P2ry12 |
C |
A |
3: 59,124,908 (GRCm39) |
V256F |
probably damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,651,904 (GRCm39) |
I124N |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,256,375 (GRCm39) |
F622L |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,888,863 (GRCm39) |
N361K |
probably benign |
Het |
| Plod2 |
T |
G |
9: 92,487,480 (GRCm39) |
L600V |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,446,854 (GRCm39) |
Y631H |
probably damaging |
Het |
| Proser1 |
T |
C |
3: 53,386,197 (GRCm39) |
L693P |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,875,476 (GRCm39) |
Y1195H |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,459,091 (GRCm39) |
|
probably null |
Het |
| Ric8a |
A |
G |
7: 140,437,886 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scfd1 |
A |
T |
12: 51,459,360 (GRCm39) |
K307M |
probably damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,261,117 (GRCm39) |
F33S |
probably damaging |
Het |
| Smg7 |
T |
G |
1: 152,746,508 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Strn3 |
G |
A |
12: 51,657,187 (GRCm39) |
T642I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,028,837 (GRCm39) |
|
probably null |
Het |
| Syne3 |
A |
G |
12: 104,935,619 (GRCm39) |
L53P |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,950,569 (GRCm39) |
|
probably benign |
Het |
| Tmem30b |
T |
C |
12: 73,592,942 (GRCm39) |
N58D |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,991,954 (GRCm39) |
Y641H |
probably damaging |
Het |
| Trim25 |
A |
T |
11: 88,890,564 (GRCm39) |
T84S |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,746,286 (GRCm39) |
F537I |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,755,900 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
T |
A |
5: 87,040,758 (GRCm39) |
Y388F |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,268,640 (GRCm39) |
V281A |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,882,502 (GRCm39) |
D1030E |
probably damaging |
Het |
| Vps8 |
C |
A |
16: 21,261,107 (GRCm39) |
F82L |
probably damaging |
Het |
| Zfp296 |
A |
G |
7: 19,313,661 (GRCm39) |
D172G |
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,229,958 (GRCm39) |
C189F |
probably damaging |
Het |
|
| Other mutations in Nlrp4f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01608:Nlrp4f
|
APN |
13 |
65,343,357 (GRCm39) |
nonsense |
probably null |
|
|
IGL01676:Nlrp4f
|
APN |
13 |
65,342,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01701:Nlrp4f
|
APN |
13 |
65,347,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01799:Nlrp4f
|
APN |
13 |
65,335,276 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02084:Nlrp4f
|
APN |
13 |
65,341,985 (GRCm39) |
nonsense |
probably null |
|
|
IGL02234:Nlrp4f
|
APN |
13 |
65,342,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02481:Nlrp4f
|
APN |
13 |
65,342,548 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02483:Nlrp4f
|
APN |
13 |
65,342,548 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02625:Nlrp4f
|
APN |
13 |
65,347,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Nlrp4f
|
APN |
13 |
65,332,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03077:Nlrp4f
|
APN |
13 |
65,342,412 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03111:Nlrp4f
|
APN |
13 |
65,330,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03175:Nlrp4f
|
APN |
13 |
65,342,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03324:Nlrp4f
|
APN |
13 |
65,343,042 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0398:Nlrp4f
|
UTSW |
13 |
65,342,732 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0477:Nlrp4f
|
UTSW |
13 |
65,338,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1052:Nlrp4f
|
UTSW |
13 |
65,332,897 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1302:Nlrp4f
|
UTSW |
13 |
65,342,371 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1460:Nlrp4f
|
UTSW |
13 |
65,338,082 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1970:Nlrp4f
|
UTSW |
13 |
65,341,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Nlrp4f
|
UTSW |
13 |
65,347,167 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2272:Nlrp4f
|
UTSW |
13 |
65,342,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2370:Nlrp4f
|
UTSW |
13 |
65,338,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2680:Nlrp4f
|
UTSW |
13 |
65,342,157 (GRCm39) |
nonsense |
probably null |
|
|
R3120:Nlrp4f
|
UTSW |
13 |
65,342,530 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3737:Nlrp4f
|
UTSW |
13 |
65,341,821 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4035:Nlrp4f
|
UTSW |
13 |
65,341,821 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4107:Nlrp4f
|
UTSW |
13 |
65,330,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4422:Nlrp4f
|
UTSW |
13 |
65,332,776 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4718:Nlrp4f
|
UTSW |
13 |
65,342,803 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5652:Nlrp4f
|
UTSW |
13 |
65,330,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5656:Nlrp4f
|
UTSW |
13 |
65,338,685 (GRCm39) |
nonsense |
probably null |
|
|
R5912:Nlrp4f
|
UTSW |
13 |
65,342,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5915:Nlrp4f
|
UTSW |
13 |
65,335,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Nlrp4f
|
UTSW |
13 |
65,342,895 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6683:Nlrp4f
|
UTSW |
13 |
65,347,009 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6742:Nlrp4f
|
UTSW |
13 |
65,335,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6750:Nlrp4f
|
UTSW |
13 |
65,329,468 (GRCm39) |
nonsense |
probably null |
|
|
R6751:Nlrp4f
|
UTSW |
13 |
65,342,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7110:Nlrp4f
|
UTSW |
13 |
65,347,160 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7143:Nlrp4f
|
UTSW |
13 |
65,347,166 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7143:Nlrp4f
|
UTSW |
13 |
65,343,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Nlrp4f
|
UTSW |
13 |
65,343,201 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7230:Nlrp4f
|
UTSW |
13 |
65,342,715 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7283:Nlrp4f
|
UTSW |
13 |
65,343,352 (GRCm39) |
nonsense |
probably null |
|
|
R7501:Nlrp4f
|
UTSW |
13 |
65,342,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7863:Nlrp4f
|
UTSW |
13 |
65,342,059 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7889:Nlrp4f
|
UTSW |
13 |
65,342,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8472:Nlrp4f
|
UTSW |
13 |
65,342,145 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8553:Nlrp4f
|
UTSW |
13 |
65,343,252 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8972:Nlrp4f
|
UTSW |
13 |
65,330,749 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9133:Nlrp4f
|
UTSW |
13 |
65,332,883 (GRCm39) |
nonsense |
probably null |
|
|
R9224:Nlrp4f
|
UTSW |
13 |
65,332,829 (GRCm39) |
nonsense |
probably null |
|
|
R9460:Nlrp4f
|
UTSW |
13 |
65,342,006 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9562:Nlrp4f
|
UTSW |
13 |
65,347,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Nlrp4f
|
UTSW |
13 |
65,342,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Nlrp4f
|
UTSW |
13 |
65,342,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTGCATTGCCACTTAAGGTTTC -3'
(R):5'- TTCATTCCCCAAAGTGCCCAGTATC -3'
Sequencing Primer
(F):5'- ACTTAAGGTTTCCAGGCACTG -3'
(R):5'- AGTGCCCAGTATCCAAGTAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation