Incidental Mutation 'IGL01608:Nlrp4f'
| ID |
91827 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlrp4f
|
| Ensembl Gene |
ENSMUSG00000032999 |
| Gene Name |
NLR family, pyrin domain containing 4F |
| Synonyms |
Nalp4f, C330026N02Rik, Nalp-kappa |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL01608
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
65324925-65353530 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 65343357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 96
(L96*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037372]
[ENSMUST00000221659]
[ENSMUST00000222273]
[ENSMUST00000222514]
[ENSMUST00000222559]
[ENSMUST00000223418]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037372
AA Change: L96*
|
| SMART Domains |
Protein: ENSMUSP00000041908
Gene: ENSMUSG00000032999
AA Change: L96*
| 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 null
Transcript: ENSMUST00000221659
AA Change: L96*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222273
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222514
AA Change: L96*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222559
AA Change: L74*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223418
AA Change: L96*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,038,158 (GRCm39) |
L2068Q |
probably damaging |
Het |
| Abca12 |
G |
T |
1: 71,298,601 (GRCm39) |
D2340E |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,092,535 (GRCm39) |
Y632C |
probably damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,592,855 (GRCm39) |
S311P |
probably damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Atf2 |
G |
T |
2: 73,649,422 (GRCm39) |
H396Q |
probably damaging |
Het |
| Atp8a1 |
G |
A |
5: 67,970,479 (GRCm39) |
R74* |
probably null |
Het |
| Brpf3 |
T |
C |
17: 29,040,491 (GRCm39) |
S971P |
probably benign |
Het |
| Btn1a1 |
T |
C |
13: 23,645,778 (GRCm39) |
E197G |
probably benign |
Het |
| Ccdc136 |
C |
T |
6: 29,406,113 (GRCm39) |
A87V |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,630,560 (GRCm39) |
L376P |
probably damaging |
Het |
| Chrm3 |
G |
A |
13: 9,928,634 (GRCm39) |
A134V |
possibly damaging |
Het |
| Col19a1 |
G |
A |
1: 24,321,626 (GRCm39) |
R961C |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,837,528 (GRCm39) |
V1190A |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,389,614 (GRCm39) |
S515T |
probably benign |
Het |
| Eprs1 |
T |
A |
1: 185,117,311 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,186,776 (GRCm39) |
Y1708* |
probably null |
Het |
| Glt1d1 |
A |
G |
5: 127,741,746 (GRCm39) |
N148S |
possibly damaging |
Het |
| Gm20425 |
T |
A |
9: 103,068,293 (GRCm39) |
I44F |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,758,779 (GRCm39) |
K411* |
probably null |
Het |
| Ipo11 |
A |
G |
13: 106,971,002 (GRCm39) |
|
probably benign |
Het |
| Klri1 |
T |
A |
6: 129,675,130 (GRCm39) |
N210I |
possibly damaging |
Het |
| Kmt2c |
C |
T |
5: 25,559,809 (GRCm39) |
V950M |
probably damaging |
Het |
| Knop1 |
T |
C |
7: 118,445,019 (GRCm39) |
K315R |
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
| Lrrc32 |
T |
A |
7: 98,148,564 (GRCm39) |
V448D |
probably benign |
Het |
| Met |
T |
C |
6: 17,558,729 (GRCm39) |
V1119A |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,478,551 (GRCm39) |
T832A |
probably benign |
Het |
| Mipep |
T |
A |
14: 61,039,679 (GRCm39) |
I236N |
possibly damaging |
Het |
| Mrpl45 |
A |
G |
11: 97,207,747 (GRCm39) |
T81A |
probably benign |
Het |
| Mtbp |
G |
T |
15: 55,421,085 (GRCm39) |
E24* |
probably null |
Het |
| Muc5b |
C |
T |
7: 141,400,174 (GRCm39) |
T476I |
unknown |
Het |
| Mup6 |
C |
T |
4: 60,006,021 (GRCm39) |
T163I |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,466,780 (GRCm39) |
I278F |
possibly damaging |
Het |
| Myo9a |
A |
T |
9: 59,778,119 (GRCm39) |
K1292* |
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,281,694 (GRCm39) |
|
probably benign |
Het |
| Nck1 |
C |
A |
9: 100,379,440 (GRCm39) |
R270S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,060,548 (GRCm39) |
E6035G |
probably damaging |
Het |
| Or11g1 |
A |
T |
14: 50,651,910 (GRCm39) |
H303L |
probably benign |
Het |
| Or4a77 |
A |
T |
2: 89,486,835 (GRCm39) |
|
probably benign |
Het |
| Or51l14 |
A |
T |
7: 103,101,011 (GRCm39) |
I156F |
probably benign |
Het |
| Or5t18 |
A |
C |
2: 86,636,769 (GRCm39) |
Y191* |
probably null |
Het |
| Padi2 |
A |
G |
4: 140,659,541 (GRCm39) |
E282G |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,803 (GRCm39) |
D371G |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,978 (GRCm39) |
D552G |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,982,855 (GRCm39) |
I270T |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,118,516 (GRCm39) |
M407V |
probably benign |
Het |
| Ppm1h |
C |
T |
10: 122,777,185 (GRCm39) |
R103* |
probably null |
Het |
| Rangap1 |
C |
T |
15: 81,593,705 (GRCm39) |
V457M |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,442,461 (GRCm39) |
V257A |
probably benign |
Het |
| Shc1 |
C |
A |
3: 89,332,156 (GRCm39) |
Q204K |
probably damaging |
Het |
| Slc6a4 |
T |
A |
11: 76,917,961 (GRCm39) |
Y568N |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,923,439 (GRCm39) |
F7L |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,098 (GRCm39) |
C99S |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,206,075 (GRCm39) |
D779G |
probably benign |
Het |
| Supt6 |
A |
T |
11: 78,116,309 (GRCm39) |
Y685N |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,869,418 (GRCm39) |
T256A |
probably benign |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,560 (GRCm39) |
I287F |
probably damaging |
Het |
| Zmym2 |
C |
A |
14: 57,185,472 (GRCm39) |
Q1035K |
possibly damaging |
Het |
| Zswim3 |
G |
A |
2: 164,663,440 (GRCm39) |
R640H |
probably damaging |
Het |
|
| Other mutations in Nlrp4f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation