Incidental Mutation 'R5912:Nlrp4f'
| ID |
461077 |
| 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 |
044109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5912 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65342722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 308
(Y308N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152418
(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: Y308N
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: Y308N
| 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: Y308N
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222273
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222514
AA Change: Y308N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223418
|
| Meta Mutation Damage Score |
0.4859 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,839,897 (GRCm39) |
C166S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,989,267 (GRCm39) |
M3517K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,256,344 (GRCm39) |
V214A |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,389 (GRCm39) |
V365A |
probably benign |
Het |
| Bivm |
G |
T |
1: 44,165,573 (GRCm39) |
G8* |
probably null |
Het |
| Cc2d2a |
A |
C |
5: 43,877,772 (GRCm39) |
D1043A |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,773,507 (GRCm39) |
I331S |
possibly damaging |
Het |
| Clip3 |
A |
C |
7: 29,998,295 (GRCm39) |
D247A |
probably benign |
Het |
| Csf3r |
A |
T |
4: 125,923,753 (GRCm39) |
I88F |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,945,079 (GRCm39) |
N316K |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,491,965 (GRCm39) |
C1133* |
probably null |
Het |
| Glud1 |
G |
A |
14: 34,033,300 (GRCm39) |
|
probably null |
Het |
| Gm5805 |
A |
G |
15: 81,857,018 (GRCm39) |
|
noncoding transcript |
Het |
| Gsg1l2 |
G |
T |
11: 67,665,540 (GRCm39) |
|
probably null |
Het |
| Ikzf1 |
C |
A |
11: 11,698,464 (GRCm39) |
S105* |
probably null |
Het |
| Kif18b |
A |
G |
11: 102,803,817 (GRCm39) |
S448P |
probably benign |
Het |
| Klhl31 |
C |
A |
9: 77,563,012 (GRCm39) |
N592K |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,552,467 (GRCm39) |
F1239L |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,268 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,290,951 (GRCm39) |
L3980R |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,685,126 (GRCm39) |
S524T |
possibly damaging |
Het |
| Or1e33 |
A |
C |
11: 73,738,501 (GRCm39) |
I150R |
possibly damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,046 (GRCm39) |
E22V |
possibly damaging |
Het |
| Rfx5 |
G |
A |
3: 94,866,029 (GRCm39) |
|
probably benign |
Het |
| Scn1b |
C |
T |
7: 30,817,228 (GRCm39) |
V165M |
probably damaging |
Het |
| Sema4c |
A |
C |
1: 36,593,469 (GRCm39) |
V41G |
possibly damaging |
Het |
| Serpini1 |
G |
T |
3: 75,523,914 (GRCm39) |
G174V |
probably benign |
Het |
| Sh2b1 |
T |
C |
7: 126,070,642 (GRCm39) |
E353G |
probably damaging |
Het |
| Slc7a6 |
G |
T |
8: 106,906,289 (GRCm39) |
V174L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,753,809 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,935,251 (GRCm39) |
N21D |
probably damaging |
Het |
| Spdye4c |
C |
T |
2: 128,437,994 (GRCm39) |
R245* |
probably null |
Het |
| Sulf1 |
A |
G |
1: 12,856,976 (GRCm39) |
|
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,287,160 (GRCm39) |
S111P |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,955,721 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,622,030 (GRCm39) |
V383A |
possibly damaging |
Het |
| Tbc1d10b |
G |
T |
7: 126,799,033 (GRCm39) |
A491E |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,686,877 (GRCm39) |
T132A |
probably damaging |
Het |
| Traf3 |
A |
G |
12: 111,221,783 (GRCm39) |
I290V |
probably benign |
Het |
| Traf5 |
A |
G |
1: 191,730,030 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,687 (GRCm39) |
I13687N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,494,767 (GRCm39) |
D415G |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,173,825 (GRCm39) |
Y227H |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,752,071 (GRCm39) |
N705D |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,214,250 (GRCm39) |
E1444G |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,993,750 (GRCm39) |
S545P |
probably benign |
Het |
| Zfp710 |
A |
G |
7: 79,731,222 (GRCm39) |
D133G |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,934 (GRCm39) |
C229S |
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 |
|
R5656:Nlrp4f
|
UTSW |
13 |
65,338,685 (GRCm39) |
nonsense |
probably null |
|
|
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'- ACTGGGCACTTTGGGGAATG -3'
(R):5'- GAAGCAGCCAGTGAGTACAC -3'
Sequencing Primer
(F):5'- CACTTTGGGGAATGAACAAACTG -3'
(R):5'- TGGAGGACAGGATTCAGT -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation