Incidental Mutation 'R7283:Nlrp4f'
| ID |
565823 |
| 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 |
045361-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 65343352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 76
(R76*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037372]
[ENSMUST00000221659]
[ENSMUST00000222273]
[ENSMUST00000222514]
[ENSMUST00000222559]
[ENSMUST00000223418]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037372
AA Change: R98*
|
| SMART Domains |
Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: R98*
| 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 null
Transcript: ENSMUST00000221659
AA Change: R98*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222273
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222514
AA Change: R98*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222559
AA Change: R76*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223418
AA Change: R98*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,700,504 (GRCm39) |
V278A |
probably benign |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abce1 |
C |
A |
8: 80,411,885 (GRCm39) |
G592* |
probably null |
Het |
| Acad10 |
A |
C |
5: 121,787,538 (GRCm39) |
V137G |
possibly damaging |
Het |
| Adcy3 |
A |
G |
12: 4,253,563 (GRCm39) |
I672V |
not run |
Het |
| Adgrb1 |
A |
T |
15: 74,452,512 (GRCm39) |
Q1166L |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,768,955 (GRCm39) |
N465K |
probably damaging |
Het |
| Avpr1b |
A |
G |
1: 131,537,469 (GRCm39) |
T418A |
probably benign |
Het |
| Azin1 |
G |
A |
15: 38,501,652 (GRCm39) |
T33I |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,706,425 (GRCm39) |
T1339A |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,165,654 (GRCm39) |
Q1346R |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,001,446 (GRCm39) |
Y299C |
probably damaging |
Het |
| Clip1 |
A |
C |
5: 123,751,857 (GRCm39) |
C641W |
|
Het |
| Clip3 |
T |
C |
7: 30,005,237 (GRCm39) |
S524P |
probably damaging |
Het |
| Cnpy4 |
A |
T |
5: 138,191,144 (GRCm39) |
H240L |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,466,339 (GRCm39) |
Y381H |
probably damaging |
Het |
| Cyp3a13 |
T |
A |
5: 137,903,818 (GRCm39) |
N280I |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,104,020 (GRCm39) |
F788S |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,798,207 (GRCm39) |
N484S |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 38,943,842 (GRCm39) |
I912F |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,649,673 (GRCm39) |
K217* |
probably null |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,061 (GRCm39) |
V36A |
probably damaging |
Het |
| Invs |
T |
A |
4: 48,392,526 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
T |
A |
6: 148,725,979 (GRCm39) |
Y30F |
possibly damaging |
Het |
| Kctd14 |
T |
C |
7: 97,100,693 (GRCm39) |
M1T |
probably null |
Het |
| Klrb1c |
A |
T |
6: 128,761,220 (GRCm39) |
C136S |
probably benign |
Het |
| Morn2 |
A |
G |
17: 80,604,688 (GRCm39) |
E48G |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,092,670 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nfxl1 |
A |
G |
5: 72,686,393 (GRCm39) |
S603P |
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,765,741 (GRCm39) |
A351V |
probably benign |
Het |
| Or1e1f |
T |
C |
11: 73,855,634 (GRCm39) |
S67P |
probably damaging |
Het |
| Or52n1 |
G |
T |
7: 104,382,800 (GRCm39) |
T257K |
probably damaging |
Het |
| Or5h22 |
A |
T |
16: 58,894,555 (GRCm39) |
M296K |
probably benign |
Het |
| Or7e176 |
A |
C |
9: 20,171,555 (GRCm39) |
I140L |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,483 (GRCm39) |
I201N |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,817,394 (GRCm39) |
V601A |
not run |
Het |
| Pde4dip |
T |
C |
3: 97,666,198 (GRCm39) |
T349A |
probably benign |
Het |
| Pdlim5 |
T |
C |
3: 142,017,741 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,366,676 (GRCm39) |
N718S |
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,401 (GRCm39) |
H135R |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,191 (GRCm39) |
Y375F |
probably damaging |
Het |
| Prkca |
C |
T |
11: 108,231,471 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,535,628 (GRCm39) |
S1663G |
probably benign |
Het |
| Ptbp3 |
T |
C |
4: 59,514,384 (GRCm39) |
T80A |
probably benign |
Het |
| Ptpn4 |
C |
T |
1: 119,610,261 (GRCm39) |
V696I |
possibly damaging |
Het |
| Pygl |
A |
T |
12: 70,263,342 (GRCm39) |
W175R |
possibly damaging |
Het |
| Rftn1 |
A |
G |
17: 50,354,469 (GRCm39) |
Y298H |
probably damaging |
Het |
| Rit2 |
A |
G |
18: 31,449,892 (GRCm39) |
|
probably null |
Het |
| Runx1t1 |
G |
A |
4: 13,846,935 (GRCm39) |
G240R |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,493,845 (GRCm39) |
|
probably null |
Het |
| Serpina16 |
A |
C |
12: 103,638,691 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
A |
T |
13: 24,039,831 (GRCm39) |
M290L |
|
Het |
| Slc6a4 |
A |
T |
11: 76,901,522 (GRCm39) |
M86L |
probably benign |
Het |
| Spag7 |
A |
T |
11: 70,556,139 (GRCm39) |
V46E |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,127,131 (GRCm39) |
R1960W |
possibly damaging |
Het |
| Sptlc1 |
T |
C |
13: 53,498,914 (GRCm39) |
I271V |
probably benign |
Het |
| Stk17b |
A |
C |
1: 53,796,674 (GRCm39) |
H364Q |
probably benign |
Het |
| Strc |
T |
C |
2: 121,209,933 (GRCm39) |
H130R |
probably damaging |
Het |
| Stxbp1 |
T |
A |
2: 32,705,026 (GRCm39) |
D148V |
probably damaging |
Het |
| Tirap |
G |
A |
9: 35,100,225 (GRCm39) |
P153L |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmem51 |
T |
A |
4: 141,759,094 (GRCm39) |
D218V |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,193,554 (GRCm39) |
D218E |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,039,062 (GRCm39) |
D934G |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,002,914 (GRCm39) |
L108P |
probably damaging |
Het |
| Washc2 |
C |
A |
6: 116,204,379 (GRCm39) |
P429Q |
probably damaging |
Het |
| Wipi1 |
A |
G |
11: 109,502,137 (GRCm39) |
M1T |
probably null |
Het |
| Zfp438 |
A |
G |
18: 5,214,712 (GRCm39) |
V82A |
probably damaging |
Het |
| Zfp853 |
G |
C |
5: 143,273,493 (GRCm39) |
A724G |
unknown |
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 |
|
R0707:Nlrp4f
|
UTSW |
13 |
65,342,317 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 |
|
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'- AGTGTCTTGCCAACTCCAGC -3'
(R):5'- CACATACACACAATTGTTCTAGGTG -3'
Sequencing Primer
(F):5'- AGCCATGCCTTTCAGGAAC -3'
(R):5'- ATTTAACACCTCTGACTTCCATAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation