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 |
Nalp-kappa, Nalp4f, C330026N02Rik |
| MMRRC Submission |
043302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65177111-65205977 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 65190871 bp (GRCm38)
|
| 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: 105,709,512 (GRCm38) |
S139G |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,227,377 (GRCm38) |
D348G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,621,328 (GRCm38) |
V1959A |
probably benign |
Het |
| Bicral |
G |
A |
17: 46,808,369 (GRCm38) |
T742M |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,605,431 (GRCm38) |
I60N |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,569,934 (GRCm38) |
V414A |
probably benign |
Het |
| Cd22 |
T |
G |
7: 30,869,773 (GRCm38) |
Y612S |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,664,421 (GRCm38) |
I320F |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,797,632 (GRCm38) |
N852K |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,329,514 (GRCm38) |
H363L |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,561,358 (GRCm38) |
L320Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,064 (GRCm38) |
D3849G |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,437,309 (GRCm38) |
N164K |
probably damaging |
Het |
| Efs |
T |
C |
14: 54,917,127 (GRCm38) |
T552A |
probably damaging |
Het |
| Fbp1 |
C |
A |
13: 62,875,196 (GRCm38) |
V96L |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,662,654 (GRCm38) |
N1139I |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,422,981 (GRCm38) |
Y152C |
probably damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,245,661 (GRCm38) |
L362Q |
probably damaging |
Het |
| Iqcd |
A |
G |
5: 120,605,126 (GRCm38) |
|
probably null |
Het |
| Klhl41 |
T |
A |
2: 69,683,532 (GRCm38) |
I585N |
possibly damaging |
Het |
| Map6 |
A |
G |
7: 99,336,298 (GRCm38) |
K470E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 70,786,221 (GRCm38) |
T496A |
probably damaging |
Het |
| Mbd6 |
A |
T |
10: 127,285,286 (GRCm38) |
|
probably benign |
Het |
| Melk |
A |
G |
4: 44,312,237 (GRCm38) |
K183R |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,123,139 (GRCm38) |
V152A |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,622,866 (GRCm38) |
|
probably benign |
Het |
| Nav3 |
A |
C |
10: 109,764,633 (GRCm38) |
S1378A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 27,051,645 (GRCm38) |
D415E |
possibly damaging |
Het |
| Olfr1480 |
A |
G |
19: 13,530,380 (GRCm38) |
T280A |
probably benign |
Het |
| Olfr397 |
T |
A |
11: 73,964,710 (GRCm38) |
M34K |
probably damaging |
Het |
| Olfr497 |
A |
G |
7: 108,422,618 (GRCm38) |
I16V |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,673,717 (GRCm38) |
R364W |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,388,703 (GRCm38) |
D2G |
probably benign |
Het |
| Phc3 |
G |
T |
3: 30,965,866 (GRCm38) |
S28R |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,519,974 (GRCm38) |
|
probably null |
Het |
| Prdm10 |
C |
T |
9: 31,353,417 (GRCm38) |
T667M |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 139,255,971 (GRCm38) |
S443T |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,490,072 (GRCm38) |
T1113A |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,636,136 (GRCm38) |
E551G |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,776,784 (GRCm38) |
Y774C |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,419,118 (GRCm38) |
D266G |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,352,886 (GRCm38) |
V1343A |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,973,235 (GRCm38) |
D1064E |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,443,418 (GRCm38) |
K424E |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,154,664 (GRCm38) |
|
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,346,761 (GRCm38) |
L264Q |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,678,407 (GRCm38) |
S93P |
probably damaging |
Het |
| Sult1c1 |
T |
C |
17: 53,964,652 (GRCm38) |
E169G |
probably benign |
Het |
| Sv2a |
A |
G |
3: 96,185,572 (GRCm38) |
D196G |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,594,780 (GRCm38) |
I362M |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,228,762 (GRCm38) |
D2611G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,480,708 (GRCm38) |
F191L |
probably benign |
Het |
| Trbv13-2 |
T |
A |
6: 41,121,694 (GRCm38) |
Y68N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,774,654 (GRCm38) |
D18312A |
possibly damaging |
Het |
| Ublcp1 |
A |
G |
11: 44,465,606 (GRCm38) |
V95A |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 103,250,840 (GRCm38) |
V295A |
probably damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,308,167 (GRCm38) |
L291M |
possibly damaging |
Het |
| Vsig10l |
C |
T |
7: 43,464,151 (GRCm38) |
R176* |
probably null |
Het |
| Zbtb46 |
A |
G |
2: 181,423,417 (GRCm38) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,637,982 (GRCm38) |
V233A |
probably benign |
Het |
|
| Other mutations in Nlrp4f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01608:Nlrp4f
|
APN |
13 |
65,195,543 (GRCm38) |
nonsense |
probably null |
|
|
IGL01676:Nlrp4f
|
APN |
13 |
65,195,119 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01701:Nlrp4f
|
APN |
13 |
65,199,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01799:Nlrp4f
|
APN |
13 |
65,187,462 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02084:Nlrp4f
|
APN |
13 |
65,194,171 (GRCm38) |
nonsense |
probably null |
|
|
IGL02234:Nlrp4f
|
APN |
13 |
65,194,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02481:Nlrp4f
|
APN |
13 |
65,194,734 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02483:Nlrp4f
|
APN |
13 |
65,194,734 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02625:Nlrp4f
|
APN |
13 |
65,199,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02814:Nlrp4f
|
APN |
13 |
65,185,042 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03077:Nlrp4f
|
APN |
13 |
65,194,598 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL03111:Nlrp4f
|
APN |
13 |
65,183,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03175:Nlrp4f
|
APN |
13 |
65,194,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03324:Nlrp4f
|
APN |
13 |
65,195,228 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0398:Nlrp4f
|
UTSW |
13 |
65,194,918 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0477:Nlrp4f
|
UTSW |
13 |
65,190,906 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0707:Nlrp4f
|
UTSW |
13 |
65,194,503 (GRCm38) |
missense |
probably benign |
0.42 |
|
R1052:Nlrp4f
|
UTSW |
13 |
65,185,083 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1302:Nlrp4f
|
UTSW |
13 |
65,194,557 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1460:Nlrp4f
|
UTSW |
13 |
65,190,268 (GRCm38) |
missense |
probably benign |
0.23 |
|
R1970:Nlrp4f
|
UTSW |
13 |
65,194,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2111:Nlrp4f
|
UTSW |
13 |
65,199,353 (GRCm38) |
missense |
probably benign |
0.11 |
|
R2272:Nlrp4f
|
UTSW |
13 |
65,194,408 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2370:Nlrp4f
|
UTSW |
13 |
65,190,846 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2680:Nlrp4f
|
UTSW |
13 |
65,194,343 (GRCm38) |
nonsense |
probably null |
|
|
R3120:Nlrp4f
|
UTSW |
13 |
65,194,716 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3737:Nlrp4f
|
UTSW |
13 |
65,194,007 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4035:Nlrp4f
|
UTSW |
13 |
65,194,007 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4107:Nlrp4f
|
UTSW |
13 |
65,183,065 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4422:Nlrp4f
|
UTSW |
13 |
65,184,962 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4718:Nlrp4f
|
UTSW |
13 |
65,194,989 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5652:Nlrp4f
|
UTSW |
13 |
65,182,989 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5912:Nlrp4f
|
UTSW |
13 |
65,194,908 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5915:Nlrp4f
|
UTSW |
13 |
65,187,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5955:Nlrp4f
|
UTSW |
13 |
65,195,081 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6683:Nlrp4f
|
UTSW |
13 |
65,199,195 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6742:Nlrp4f
|
UTSW |
13 |
65,187,440 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6750:Nlrp4f
|
UTSW |
13 |
65,181,654 (GRCm38) |
nonsense |
probably null |
|
|
R6751:Nlrp4f
|
UTSW |
13 |
65,194,429 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7110:Nlrp4f
|
UTSW |
13 |
65,199,346 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7143:Nlrp4f
|
UTSW |
13 |
65,199,352 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7143:Nlrp4f
|
UTSW |
13 |
65,195,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7187:Nlrp4f
|
UTSW |
13 |
65,195,387 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7230:Nlrp4f
|
UTSW |
13 |
65,194,901 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7283:Nlrp4f
|
UTSW |
13 |
65,195,538 (GRCm38) |
nonsense |
probably null |
|
|
R7501:Nlrp4f
|
UTSW |
13 |
65,194,329 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7863:Nlrp4f
|
UTSW |
13 |
65,194,245 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7889:Nlrp4f
|
UTSW |
13 |
65,195,018 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8472:Nlrp4f
|
UTSW |
13 |
65,194,331 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8553:Nlrp4f
|
UTSW |
13 |
65,195,438 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R8972:Nlrp4f
|
UTSW |
13 |
65,182,935 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9133:Nlrp4f
|
UTSW |
13 |
65,185,069 (GRCm38) |
nonsense |
probably null |
|
|
R9224:Nlrp4f
|
UTSW |
13 |
65,185,015 (GRCm38) |
nonsense |
probably null |
|
|
R9460:Nlrp4f
|
UTSW |
13 |
65,194,192 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9562:Nlrp4f
|
UTSW |
13 |
65,199,239 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1088:Nlrp4f
|
UTSW |
13 |
65,194,302 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Nlrp4f
|
UTSW |
13 |
65,194,661 (GRCm38) |
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