Incidental Mutation 'R7501:Nlrp4f'
| ID |
581497 |
| 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 |
045574-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R7501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65342143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 501
(F501L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041908
(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 damaging
Transcript: ENSMUST00000037372
AA Change: F501L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: F501L
| 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 damaging
Transcript: ENSMUST00000221659
AA Change: F501L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222273
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222514
AA Change: F501L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223418
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,142,974 (GRCm39) |
N503S |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,011 (GRCm39) |
A761T |
possibly damaging |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,688,522 (GRCm39) |
E238G |
|
Het |
| Ap3b2 |
A |
T |
7: 81,123,194 (GRCm39) |
I440K |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,049,344 (GRCm39) |
T566I |
probably benign |
Het |
| B3galnt1 |
T |
C |
3: 69,482,632 (GRCm39) |
I210V |
probably benign |
Het |
| Bag5 |
T |
C |
12: 111,676,722 (GRCm39) |
K367R |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,036,080 (GRCm39) |
Y410H |
probably damaging |
Het |
| Cgref1 |
G |
T |
5: 31,102,800 (GRCm39) |
P7Q |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,576,159 (GRCm39) |
I136V |
probably benign |
Het |
| Comp |
A |
G |
8: 70,832,059 (GRCm39) |
D500G |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,395,714 (GRCm39) |
L3872P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,175,336 (GRCm39) |
L91Q |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,525,364 (GRCm39) |
V280A |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,012,597 (GRCm39) |
Y2297* |
probably null |
Het |
| Fem1c |
A |
T |
18: 46,638,868 (GRCm39) |
M378K |
probably damaging |
Het |
| Gata6 |
A |
G |
18: 11,054,082 (GRCm39) |
T4A |
probably damaging |
Het |
| Gatb |
G |
C |
3: 85,544,297 (GRCm39) |
V422L |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,059,508 (GRCm39) |
D510E |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,502,436 (GRCm39) |
Y366N |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,942,666 (GRCm39) |
H492R |
probably damaging |
Het |
| H2bc6 |
A |
G |
13: 23,769,776 (GRCm39) |
I55T |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,953,031 (GRCm39) |
|
probably null |
Het |
| Hnrnph1 |
A |
C |
11: 50,270,383 (GRCm39) |
E62D |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,012,095 (GRCm39) |
V274A |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 941,488 (GRCm39) |
W1230R |
probably damaging |
Het |
| Lctl |
A |
T |
9: 64,038,861 (GRCm39) |
M317L |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,463,471 (GRCm39) |
D570G |
probably damaging |
Het |
| Lrrc9 |
G |
T |
12: 72,496,490 (GRCm39) |
M39I |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,877,419 (GRCm39) |
I402N |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,959,748 (GRCm39) |
G297D |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Nbr1 |
G |
A |
11: 101,457,026 (GRCm39) |
R163Q |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
| Oacyl |
T |
G |
18: 65,858,369 (GRCm39) |
|
probably null |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
C |
T |
1: 194,326,203 (GRCm39) |
R46C |
possibly damaging |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,749 (GRCm39) |
D126E |
probably damaging |
Het |
| Prl6a1 |
A |
T |
13: 27,500,282 (GRCm39) |
R84S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,746 (GRCm39) |
Q1279* |
probably null |
Het |
| Ptx4 |
C |
T |
17: 25,344,166 (GRCm39) |
T472I |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,528,358 (GRCm39) |
V416A |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 76,989,834 (GRCm39) |
D231E |
probably benign |
Het |
| Reln |
A |
T |
5: 22,432,636 (GRCm39) |
F121L |
possibly damaging |
Het |
| Rfx7 |
G |
A |
9: 72,524,054 (GRCm39) |
V415I |
probably benign |
Het |
| Scaf4 |
A |
T |
16: 90,026,964 (GRCm39) |
M951K |
unknown |
Het |
| Sdf4 |
T |
C |
4: 156,080,977 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,331,863 (GRCm39) |
T51A |
probably damaging |
Het |
| Sema3a |
A |
G |
5: 13,607,008 (GRCm39) |
N281S |
probably damaging |
Het |
| Snai2 |
G |
A |
16: 14,524,754 (GRCm39) |
V87I |
possibly damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,791,357 (GRCm39) |
E925G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,040,514 (GRCm39) |
S197T |
possibly damaging |
Het |
| Syt6 |
A |
T |
3: 103,495,018 (GRCm39) |
M328L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,177,516 (GRCm39) |
V946A |
unknown |
Het |
| Trat1 |
A |
T |
16: 48,574,657 (GRCm39) |
|
probably null |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,997 (GRCm39) |
I243K |
possibly damaging |
Het |
| Vmn2r83 |
G |
A |
10: 79,327,771 (GRCm39) |
C793Y |
probably damaging |
Het |
| Wnt9a |
G |
A |
11: 59,219,583 (GRCm39) |
G203D |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,871,676 (GRCm39) |
I366T |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,269,224 (GRCm39) |
D787G |
possibly damaging |
Het |
| Zfp706 |
T |
C |
15: 37,002,169 (GRCm39) |
T53A |
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 |
|
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 |
|
R7283:Nlrp4f
|
UTSW |
13 |
65,343,352 (GRCm39) |
nonsense |
probably null |
|
|
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'- TCTTCCATCTCAAACAGACAGG -3'
(R):5'- ACATCCCCACACTTTTGGAC -3'
Sequencing Primer
(F):5'- GAAAACAATCTCATGCCGTCTATTTG -3'
(R):5'- CCCACACTTTTGGACATTGGAATG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation