Incidental Mutation 'R5656:Nlrp4f'
| ID |
442349 |
| 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 |
043302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 65338685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 651
(R651*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037372]
[ENSMUST00000220448]
[ENSMUST00000221659]
[ENSMUST00000222514]
[ENSMUST00000222559]
[ENSMUST00000223418]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037372
AA Change: R651*
|
| SMART Domains |
Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: R651*
| 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 null
Transcript: ENSMUST00000221659
AA Change: R651*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222514
AA Change: R651*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223418
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,717,405 (GRCm39) |
D348G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,587,587 (GRCm39) |
V1959A |
probably benign |
Het |
| Bicral |
G |
A |
17: 47,119,295 (GRCm39) |
T742M |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,435,912 (GRCm39) |
I60N |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,445,930 (GRCm39) |
V414A |
probably benign |
Het |
| Cd22 |
T |
G |
7: 30,569,198 (GRCm39) |
Y612S |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,555,247 (GRCm39) |
I320F |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,503,393 (GRCm39) |
N852K |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,399,739 (GRCm39) |
H363L |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,489,087 (GRCm39) |
L320Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,210 (GRCm39) |
D3849G |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
| Efs |
T |
C |
14: 55,154,584 (GRCm39) |
T552A |
probably damaging |
Het |
| Fbp1 |
C |
A |
13: 63,023,010 (GRCm39) |
V96L |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,261,826 (GRCm39) |
N1139I |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,660,430 (GRCm39) |
Y152C |
probably damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,143,542 (GRCm39) |
L362Q |
probably damaging |
Het |
| Iqcd |
A |
G |
5: 120,743,191 (GRCm39) |
|
probably null |
Het |
| Klhl41 |
T |
A |
2: 69,513,876 (GRCm39) |
I585N |
possibly damaging |
Het |
| Map6 |
A |
G |
7: 98,985,505 (GRCm39) |
K470E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,238,865 (GRCm39) |
T496A |
probably damaging |
Het |
| Mbd6 |
A |
T |
10: 127,121,155 (GRCm39) |
|
probably benign |
Het |
| Melk |
A |
G |
4: 44,312,237 (GRCm39) |
K183R |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,086,759 (GRCm39) |
V152A |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
A |
C |
10: 109,600,494 (GRCm39) |
S1378A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Or1e1f |
T |
A |
11: 73,855,536 (GRCm39) |
M34K |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,744 (GRCm39) |
T280A |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,021,825 (GRCm39) |
I16V |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,811,780 (GRCm39) |
R364W |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,264,447 (GRCm39) |
D2G |
probably benign |
Het |
| Phc3 |
G |
T |
3: 31,020,015 (GRCm39) |
S28R |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,073,711 (GRCm39) |
|
probably null |
Het |
| Prdm10 |
C |
T |
9: 31,264,713 (GRCm39) |
T667M |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 138,835,887 (GRCm39) |
S443T |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,467,035 (GRCm39) |
T1113A |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,526,962 (GRCm39) |
E551G |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,378,508 (GRCm39) |
Y774C |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,656,567 (GRCm39) |
D266G |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,002,310 (GRCm39) |
V1343A |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,961,674 (GRCm39) |
D1064E |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,334,245 (GRCm39) |
K424E |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,753,887 (GRCm39) |
|
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,393,535 (GRCm39) |
L264Q |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,811,460 (GRCm39) |
S93P |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,271,680 (GRCm39) |
E169G |
probably benign |
Het |
| Sv2a |
A |
G |
3: 96,092,888 (GRCm39) |
D196G |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,813,754 (GRCm39) |
I362M |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,681,797 (GRCm39) |
D2611G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,457,690 (GRCm39) |
F191L |
probably benign |
Het |
| Trbv13-2 |
T |
A |
6: 41,098,628 (GRCm39) |
Y68N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,604,998 (GRCm39) |
D18312A |
possibly damaging |
Het |
| Ublcp1 |
A |
G |
11: 44,356,433 (GRCm39) |
V95A |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 102,900,047 (GRCm39) |
V295A |
probably damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,285,152 (GRCm39) |
L291M |
possibly damaging |
Het |
| Vsig10l |
C |
T |
7: 43,113,575 (GRCm39) |
R176* |
probably null |
Het |
| Zbtb46 |
A |
G |
2: 181,065,210 (GRCm39) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,785,848 (GRCm39) |
V233A |
probably benign |
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 |
|
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'- GTGTCAAGACAGAAAGATTCCAC -3'
(R):5'- AGCTCCAGCAGGTTTTATCATCTG -3'
Sequencing Primer
(F):5'- GTCAAGACAGAAAGATTCCACTTTAG -3'
(R):5'- GATGTTTGTGAACCACCACG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation