Incidental Mutation 'R5915:Nlrp4f'
| ID |
461281 |
| 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 |
044112-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65335369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 740
(L740P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037372]
[ENSMUST00000220448]
[ENSMUST00000221659]
[ENSMUST00000222514]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037372
AA Change: L740P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: L740P
| 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 damaging
Transcript: ENSMUST00000220448
AA Change: L32P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221659
AA Change: L740P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222514
AA Change: L740P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,550,748 (GRCm39) |
|
probably null |
Het |
| Alox12e |
T |
C |
11: 70,209,050 (GRCm39) |
I399V |
possibly damaging |
Het |
| Apoa5 |
C |
A |
9: 46,180,607 (GRCm39) |
Q42K |
probably damaging |
Het |
| Arfgap1 |
A |
G |
2: 180,620,215 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Arhgap12 |
A |
G |
18: 6,037,016 (GRCm39) |
|
probably null |
Het |
| Arl16 |
G |
A |
11: 120,357,431 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,370,577 (GRCm39) |
D951G |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,942,955 (GRCm39) |
L80Q |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,822,176 (GRCm39) |
V1714I |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,914,550 (GRCm39) |
R1141H |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,252,775 (GRCm39) |
L351P |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,405,829 (GRCm39) |
|
probably benign |
Het |
| Dpy30 |
G |
T |
17: 74,622,906 (GRCm39) |
D25E |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,935,152 (GRCm39) |
W998R |
probably damaging |
Het |
| Fibp |
A |
G |
19: 5,513,644 (GRCm39) |
D220G |
possibly damaging |
Het |
| Grm3 |
C |
T |
5: 9,561,927 (GRCm39) |
C641Y |
probably damaging |
Het |
| Gulo |
A |
T |
14: 66,245,570 (GRCm39) |
V8D |
probably benign |
Het |
| Ifrd1 |
A |
T |
12: 40,263,095 (GRCm39) |
C164S |
possibly damaging |
Het |
| Jam2 |
G |
A |
16: 84,606,295 (GRCm39) |
S103N |
probably benign |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,444 (GRCm39) |
T108A |
unknown |
Het |
| Man2a2 |
A |
G |
7: 80,010,669 (GRCm39) |
F774S |
probably benign |
Het |
| Map1b |
G |
A |
13: 99,566,839 (GRCm39) |
R1961W |
unknown |
Het |
| Mib2 |
A |
G |
4: 155,740,508 (GRCm39) |
|
probably benign |
Het |
| Mr1 |
A |
T |
1: 155,012,534 (GRCm39) |
F127I |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,554 (GRCm39) |
I57T |
probably benign |
Het |
| Ncan |
G |
T |
8: 70,550,731 (GRCm39) |
Y1154* |
probably null |
Het |
| Nfx1 |
T |
A |
4: 40,977,285 (GRCm39) |
S320T |
probably benign |
Het |
| Nprl2 |
T |
C |
9: 107,422,277 (GRCm39) |
|
probably benign |
Het |
| Opn1sw |
A |
G |
6: 29,379,754 (GRCm39) |
|
probably null |
Het |
| Or5bw2 |
A |
T |
7: 6,573,172 (GRCm39) |
I61F |
probably benign |
Het |
| Palld |
A |
G |
8: 61,986,386 (GRCm39) |
|
probably null |
Het |
| Phf14 |
T |
A |
6: 11,933,726 (GRCm39) |
M196K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,433,549 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
T |
7: 109,977,303 (GRCm39) |
C610* |
probably null |
Het |
| Sec24a |
C |
T |
11: 51,646,964 (GRCm39) |
A13T |
probably benign |
Het |
| Smim8 |
TCTCCTC |
TCTC |
4: 34,769,010 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
A |
C |
17: 25,786,443 (GRCm39) |
L420R |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,612 (GRCm39) |
Q349H |
unknown |
Het |
| Sspo |
A |
G |
6: 48,441,530 (GRCm39) |
D1889G |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,468,418 (GRCm39) |
H4382L |
possibly damaging |
Het |
| Tmem65 |
T |
C |
15: 58,662,037 (GRCm39) |
I141V |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,301,400 (GRCm39) |
T1329S |
probably benign |
Het |
| Trim17 |
C |
T |
11: 58,859,388 (GRCm39) |
R201W |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,182 (GRCm39) |
L399P |
possibly damaging |
Het |
| Trim7 |
A |
G |
11: 48,736,477 (GRCm39) |
D277G |
possibly damaging |
Het |
| Vstm2b |
A |
G |
7: 40,552,107 (GRCm39) |
N153S |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,231,561 (GRCm39) |
Q786K |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,154,720 (GRCm39) |
*286W |
probably null |
Het |
| Xpot |
A |
T |
10: 121,450,998 (GRCm39) |
L134Q |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,982,466 (GRCm39) |
Q20* |
probably null |
Het |
| Zfp599 |
C |
T |
9: 22,161,130 (GRCm39) |
C345Y |
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 |
|
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'- GGCAACTTTCATACTACTTCCATAG -3'
(R):5'- TAATGGAGTCACACGCATACAC -3'
Sequencing Primer
(F):5'- ATAGTCTCCCCAGGGTACG -3'
(R):5'- CCACAGCTTACAATCTAGTTCTAGGG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation